MCID: RTT002
MIFTS: 71

Rett Syndrome malady

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Rett Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 35MedlinePlus, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Rett Syndrome:

Name: Rett Syndrome 49 10 11 68 45 22 23 46 47 12 51 67 36 35 65
Atypical Rett Syndrome 45 51 24
Rtt 68 23 67
Rts 68 23 67
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome 68 23
Cerebroatrophic Hyperammonemia 10 68
Rett Syndrome, Atypical 49 65
Rett Syndrome Variant 45 51
Rett's Disorder 10 23
 
Rett's Syndrome 23 24
Rett Disorder 23 67
Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use 45
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use 67
Rett Syndrome, Preserved Speech Variant 49
Rett Syndrome Preserved Speech Variant 67
Rett Syndrome Zappella Variant 67
Rett Like Syndrome 45
Atypical Rtt 51

Characteristics:

Orphanet epidemiological data:

51
rett syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: adult
atypical rett syndrome:
Inheritance: Autosomal dominant,X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
rett syndrome:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 312750
Disease Ontology10 DOID:1206
ICD1027 F84.2
MeSH36 D015518
NCIt42 C75488
SNOMED-CT59 192583003, 68618008
Orphanet51 778, 3095
ICD10 via Orphanet28 F84.2
MESH via Orphanet37 D015518
UMLS via Orphanet66 C0035372
UMLS65 C0035372, C2748910

Summaries for Rett Syndrome

About this section
NIH Rare Diseases:45 Atypical rett syndrome is a neurodevelopmental disorder that is diagnosed when a child has some of the symptoms of rett syndrome but does not meet all the diagnostic criteria. like the classic form of rett syndrome, atypical rett syndrome mostly affects girls. children with atypical rett syndrome can have symptoms that are either milder or more severe than those seen in rett syndrome. several subtypes of atypical rett syndrome have been defined:the early-onset seizure type is characterized by seizures in the first months of life with later development of rett features (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements). it is frequently caused by mutations in the x-linked cdkl5 gene (xp22). the congenital variant is the most severe form of atypical rett syndrome, with onset of classic rett features during the first three months of life. this variant is generally caused by mutations in the foxg1 gene (14q11-q13). the forme fruste is a milder variant with onset in early childhood and an incomplete and prolonged course. the late childhood regression form is characterized by a normal head circumference and by a more gradual and later onset (late childhood) regression of language and motor skills. the preserved speech variant is marked by recovery of some verbal and manual skills and is caused in at least some cases by mutations in the mecp2 (xq28) gene, which is also responsible for the majority of cases of classic rett syndrome. diagnosis relies on clinical evaluation using the diagnostic criteria for atypical rett syndrome which was defined by hagberg in 1994. molecular genetic testing may confirm the diagnosis. last updated: 2/12/2013

MalaCards based summary: Rett Syndrome, also known as atypical rett syndrome, is related to encephalopathy, neonatal severe and neuronal ceroid-lipofuscinoses, and has symptoms including developmental regression, neurological speech impairment and abnormality of the voice. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include brain, testes and lung, and related mouse phenotypes are taste/olfaction and craniofacial.

Disease Ontology:10 A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.

Genetics Home Reference:23 Rett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, seizures, an abnormal side-to-side curvature of the spine (scoliosis), and sleep disturbances.

OMIM:49 Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. It is characterized by... (312750) more...

MedlinePlus:35 Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. it's related to autism spectrum disorder. babies with rett syndrome seem to grow and develop normally at first. between 3 months and 3 years of age, though, they stop developing and even lose some skills. symptoms include loss of speech loss of hand movements such as grasping compulsive movements such as hand wringing balance problems breathing problems behavior problems learning problems or intellectual disability rett syndrome has no cure. you can treat some of the symptoms with medicines, surgery, and physical and speech therapy. most people with rett syndrome live into middle age and beyond. they will usually need care throughout their lives. nih: national institute of child health and human development

NINDS:46

UniProtKB/Swiss-Prot:67 Rett syndrome: An X-linked dominant neurodevelopmental disorder, and one of the most common causes of mental retardation in females. Patients appear to develop normally until 6 to 18 months of age, then gradually lose speech and purposeful hand movements, and develop microcephaly, seizures, autism, ataxia, mental retardation and stereotypic hand movements. After initial regression, the condition stabilizes and patients usually survive into adulthood.

Wikipedia:68 Rett syndrome (RTT), originally termed cerebroatrophic hyperammonemia, is a rare genetic postnatal... more...

Related Diseases for Rett Syndrome

About this section

Diseases in the Rett Syndrome family:

Rett Syndrome, Congenital Variant

Diseases related to Rett Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 504)
idRelated DiseaseScoreTop Affiliating Genes
1encephalopathy, neonatal severe31.1MECP2, MRXSL
2neuronal ceroid-lipofuscinoses30.4BDNF, CHAT
3mental retardation, x-linked, syndromic 1327.5BDNF, CDKL5, CHAT, DLX5, DLX6, FOXG1
4rett syndrome, congenital variant12.6
5classic rett syndrome12.3
6epileptic encephalopathy, early infantile, 212.0
7rothmund-thomson syndrome12.0
8atypical teratoid rhabdoid tumor11.7
9rubinstein-taybi syndrome11.6
10developmental disabilities10.7
11rhabdoid cancer10.6
12clcf1-related cold-induced sweating syndrome including crisponi syndrome10.6FOXG1, MECP2
13cdkl5-related disorder10.5
14breast cancer10.4
15angiomyoma10.4CDKL5, MECP2
16alcohol-related neurodevelopmental disorder10.4NTNG1, NTNG2
17autism spectrum disorder10.4BDNF, CDKL5, MECP2, UBE3A
18endotheliitis10.4
19roifman-chitayat syndrome10.4CDKL5, MBD4, MECP2, UBE3A
20kashin-beck disease10.4CDKL5, FOXG1, STXBP1
21hepatocellular carcinoma10.3
22leukemia10.3
23lymphoma10.3
24isodicentric 1510.3MECP2, VAMP7
25hepatitis10.3
26coffin-lowry syndrome10.3
27pervasive developmental disorder10.3
28autoimmune hepatitis10.3BDNF, CDKL5, MBD4, MECP2, UBE3A
29prostatitis10.3
30neuronitis10.3
31childhood electroclinical syndrome10.3CDKL5, STXBP1
32lung cancer10.3
33esophagitis10.3
34autism susceptibility, x-linked 310.2MECP2, MRXSL
35mental retardation, x-linked syndromic, lubs type10.2MECP2, MRXSL
36colorectal cancer10.2
37arthritis10.2
38thyroiditis10.2
39microphthalmia, syndromic 110.2MECP2, MRXSL
40prostate cancer10.2
41asthma10.2
42obesity10.2
43multiple myeloma10.2
44atherosclerosis10.2
45myeloma10.2
46heart disease10.2
47melanoma10.2
48adenocarcinoma10.2
49cerebritis10.2
50pancreatitis10.2

Graphical network of the top 20 diseases related to Rett Syndrome:



Diseases related to rett syndrome

Symptoms for Rett Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

312750

Clinical features from OMIM:

312750

Symptoms:

 51 (show all 46)
  • skull/cranial anomalies
  • abnormal cry/voice/phonation disorder/nasal speech
  • abnormal gait
  • movement disorder
  • tics/stereotypias
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • x-linked dominant inheritance
  • anomalies of eyes and vision
  • kyphosis
  • scoliosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • muscle weakness/flaccidity
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • hepatomegaly/liver enlargement (excluding storage disease)
  • respiratory rhythm disorder
  • apnea/sleep apnea
  • cardiac rhythm disorder/arrhythmia
  • dysautonomia/autonomous nervous sytem anomalies
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autism/autistic disoders
  • auto-aggressivity/auto-mutilation
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • early death/lethality
  • fine hair
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • eeg anomalies
  • hypotonia
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • generalized obesity
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Rett Syndrome:

(show all 66)
id Description Frequency HPO Source Accession
1 developmental regression hallmark (90%) HP:0002376
2 neurological speech impairment hallmark (90%) HP:0002167
3 abnormality of the voice hallmark (90%) HP:0001608
4 gait disturbance hallmark (90%) HP:0001288
5 stereotypic behavior hallmark (90%) HP:0000733
6 cognitive impairment hallmark (90%) HP:0100543
7 kyphosis typical (50%) HP:0002808
8 scoliosis typical (50%) HP:0002650
9 sleep disturbance typical (50%) HP:0002360
10 incoordination typical (50%) HP:0002311
11 cerebral cortical atrophy typical (50%) HP:0002120
12 respiratory insufficiency typical (50%) HP:0002093
13 tremor typical (50%) HP:0001337
14 muscle weakness typical (50%) HP:0001324
15 hypertonia typical (50%) HP:0001276
16 seizures typical (50%) HP:0001250
17 abnormality of the eye typical (50%) HP:0000478
18 acrocyanosis typical (50%) HP:0001063
19 muscular hypotonia typical (50%) HP:0001252
20 gait disturbance typical (50%) HP:0001288
21 neurological speech impairment typical (50%) HP:0002167
22 fine hair typical (50%) HP:0002213
23 eeg abnormality typical (50%) HP:0002353
24 abnormal pattern of respiration typical (50%) HP:0002793
25 self-injurious behavior occasional (7.5%) HP:0100716
26 arrhythmia occasional (7.5%) HP:0011675
27 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
28 reduced bone mineral density occasional (7.5%) HP:0004349
29 skeletal muscle atrophy occasional (7.5%) HP:0003202
30 abnormality of the autonomic nervous system occasional (7.5%) HP:0002270
31 hepatomegaly occasional (7.5%) HP:0002240
32 apnea occasional (7.5%) HP:0002104
33 limitation of joint mobility occasional (7.5%) HP:0001376
34 autism occasional (7.5%) HP:0000717
35 microcephaly occasional (7.5%) HP:0000252
36 brachydactyly syndrome occasional (7.5%) HP:0001156
37 hypertonia occasional (7.5%) HP:0001276
38 obesity occasional (7.5%) HP:0001513
39 weight loss occasional (7.5%) HP:0001824
40 short toe occasional (7.5%) HP:0001831
41 gait apraxia HP:0010521
42 postnatal microcephaly HP:0005484
43 prolonged qtc interval HP:0005184
44 ekg HP:0005135
45 intermittent hyperventilation HP:0004879
46 cachexia HP:0004326
47 short stature HP:0004322
48 bruxism HP:0003763
49 skeletal muscle atrophy HP:0003202
50 kyphosis HP:0002808
51 scoliosis HP:0002650
52 developmental regression HP:0002376
53 eeg abnormality HP:0002353
54 motor deterioration HP:0002333
55 intellectual disability, profound HP:0002187
56 cerebral cortical atrophy HP:0002120
57 truncal ataxia HP:0002078
58 gait ataxia HP:0002066
59 gastroesophageal reflux HP:0002020
60 constipation HP:0002019
61 short foot HP:0001773
62 dystonia HP:0001332
63 spasticity HP:0001257
64 seizures HP:0001250
65 autistic behavior HP:0000729
66 abnormality of the teeth HP:0000164

Drugs & Therapeutics for Rett Syndrome

About this section

Drugs for Rett Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 114)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GuaifenesinapprovedPhase 3, Phase 251293-14-13516
Synonyms:
3-(2-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-1,2-propanediol
3-(O-Methoxyphenoxy)-propanediol-1,2
3-O-Methoxyphenoxypropane 1:2-diol
7 Select Mucus Relief
Actifed C
Adult Tussin
Adult Tussin chest congestion
Aeronesin
Air Power
Amonidren
Amonidrin
Aresol
Benylin-E
Bidex-400
Bronchol
Broncomar SF
Careone Adult Tussin
Careone Mucus Er
Careone Mucus Relief childrens
Chest Congestion
Chest Congestion Relief
Chest Congestion childrens
Childrens Chest Congestion
Childrens Chest Congestion Relief
Childrens Mucinex Chest Congestion
Childrens Mucinex Mini-Melts Chest Congestion
Childrens Mucus Relief
Childrens Mucus Relief Expectorant Grape
Childrensrelief Expectorant Grape
Cough
Cough Out
Dg Health Mucus Relief Er
Diabetic Siltussin Das-na
Diabetic Tussin Expectorant
Diabetic Tussin Mucus Relief
Equaline Mucus Er
Equaline Tussin chest congestion
Equate Mucus Er
Equate Tussin Adult Chest Congestion
Expectorant
Expectorant 12 Hour
Gadavyt Cough
Geri-tussin Expectorant
Glycerin ether
Glycerin guaiacolate
Glycero-guaiacol ether
Glycerol a-(2-methoxyphenyl) ether
Glycerol a-(O-methoxyphenyl)ether
Glycerol a-guaiacyl ether
Glycerol a-guiacyl ether
Glycerol a-monoguaiacol ether
Glycerol guaiacolate
Glycerol mono(2-methoxyphenyl) ether
Glycerol-a-guajakolether
Glycerol-alpha-guajakolether
Glyceryl guaiacol
Glyceryl guaiacol ether
Glyceryl guaiacolate
Glyceryl guaiacolate ether
Glyceryl guaiacyl ether
Glyceryl guaicolate
Glyceryl guiacolate
Glycerylguaiacol
Good Neighbor Pharmacy Mucus Er
Good Neighbor Pharmacy Mucus Relief
Good Neighbor Pharmacy Tabtussin
Good Neighbor Pharmacy Tussin
Good Sense Mucus Er
Good Sense Mucus Relief
Good Sense Tussin chest congestion
Guaap
Guaiacol glycerol ether
Guaiacol glyceryl ether
Guaiacolglicerinetere
Guaiacuran
Guaiacurane
Guaiacyl glyceryl ether
Guaiamar
Guaianesin
Guaicol glycerine ether
Guaicol glyceryl ether
Guaifenesin
Guaifenesin Extended Release
Guaifenesine
Guaiphenesin
Guaiphenesine
Guaiphesin
Guiatuss
Health Mart Adult Tussin
Health Mart Mucus Er
Healthmart Chest Congestion Relief
Healthy Accents Childrens Mucus Relief
Healthy Accents Mucus Relief
Healthy Accents Tussin
Healthy Accents Tussin Chest Congestion adult
Hustosil
 
Iophen Nr
Kids-eeze Chest Relief
Leader Adult Tussin Chest Congestion
Leader Adult Tussin Mucus Plus Chest Congestion
Leader Chest Congestion Relief G450
Leader Cough Tabs
Leader Mucus Er
Leader Mucus Relief childrens
Leader Tabtussin 400
Licorice Coughing Liquid
Liqufruta
Liquituss Gg
Little Remedies Little Colds Mucus Relief Expectorant Melt Aways
Methoxypropanediol
Methphenoxydiol
Metossipropandiolo
Mucaplex
Mucinex
Mucinex For Kids
Mucinex Maximum Strength
Mucinex for Kids
Mucosa
Mucus Er
Mucus Extended Release
Mucus Releif Expectorant
Mucus Relief
Mucus Relief Chest
Mucus Relief Er
Mucus Relief Expectorant
Mucus Relief Immediate Release
O-Methoxyphenyl glyceryl ether
Organ-i Nr
Organidin NR
Pancold S
Pneumomist
Preferred Plus Chest Congestion Relief
Preferred Plus Mucus Er
Preferred Plus Tabtussin
Premier Value Chest Congestion Relief
Propanosedyl
Q-tussin
Qtussin
Quality Choice Mucus Relief
Reduton
Refenesen
Refenesen Chest Congestion Relief
Respaire-30
Ritussin Expectorant
Robafen Cough Formula
Robitussin
Robitussin Mucus Plus Chest Congestion
Rompe Pecho
Rompe Pecho EX
Rompe Pecho SF
Rugby Mucus Er
Rx Act Tussin Chest Congestion
Scot-tussin Expectorant Sf Cough
Select Brand Coughtab 400
Select Brand Mucus Relief
Select Brand Tab Tussin
Selecthealth Tussin Dm
Shopko Chest Congestion Relief
Shoprite Adult Tussin
Shoprite Mucus Relief
Siltussin Das
Siltussin Sa
Simpex Guaifenesin
Simply Right Mucus Relief
Smart Sense Childrens Mucus Relief
Smart Sense Mucus Er
Smart Sense Tussin adult
Sunmark Mucus Er
Sunmark Tussin
Sunmark Tussin chest congestion
The Medicine Shoppe Chest Congestion Relief
Topcare Mucus Er
Topcare Mucus Relief
Topcare Tussin Chest Congestion
Topcare Tussin mucus plus chest congestion
Tussin
Tussin Adult chest congestion
Tussin Chest
Tussin Chest Congestion Adult Non Drowsy
Tussin Chest Congestion Non Drowsy
Tussin EXPECTORANT
Tussin Non Drowsy
Tussin Original
Tussin adult chest congestion
Tussin adults non drowsy
Tussin expectorant for adults
Tussin mucus plus chest congestion
Ultra Tuss
Wal Tussin adult chest congestion
a-Glyceryl guaiacol ether
a-Glyceryl guaiacolate ether
alpha-Glyceryl guaiacol ether
alpha-Glyceryl guaiacolate ether
guaiphenesin
p-Cresyl acetate
2
Risperidoneapproved, investigationalPhase 3477106266-06-25073
Synonyms:
106266-06-2
3-(2-(4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperidino)ethyl)-6,7,8,9-tetrahydro-2-methyl-4H-pyrido(1,2-a)pyrimidin-4-one
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydro-pyrido[
3-(2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl)-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-[2-[-4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido [1,2-a] pyrimidin-4-one
3-[2-[4-(6-Fluoro-1,2-benzisoxazol-3-yl)piperi-dino]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]-pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)-1-piperidinyl]ethyl]-6,7,8,9-tetrahydro-2-methyl-4H-pyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-[2-[4-(6-fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl]-2-methyl-6,7,8,9-tetrahydropyrido[1,
3-{2-[4-(6-Fluoro-benzo[d]isoxazol-3-yl)-piperidin-1-yl]-ethyl}-2-methyl-6,7,8,9-tetrahydropyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
3-{2-[4-(6-fluoro-1,2-benzoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one
AB00514010
AC-1306
AC1L1JJU
BIDD:GT0262
BRD-K53857191-001-04-5
BRN 4891881
Belivon
Bio-0092
Buspirone
C23H27FN4O2
CAS-106266-06-2
CHEBI:8871
CHEMBL85
CID5073
CPD000466323
Consta, Risperdal
D00426
D018967
DB00734
EU-0101074
HMS1571M19
HMS2051H07
HMS2089C22
HSDB 7580
I01-1156
Jsp000573
KS-1106
L000510
LS-134196
Lopac-R-118
MLS000759429
MLS001165758
MLS001424081
MolPort-002-885-858
NCGC00015883-01
 
NCGC00015883-02
NCGC00015883-03
NCGC00094352-01
NCGC00094352-02
NCGC00094352-03
NCGC00179257-01
Prestwick0_001029
Prestwick1_001029
R 62 766
R 64 766, Risperdal, Risperidone
R 64,766
R 64766
R-118
R-64,766
R-64-766
R-64766
R64,766
R64766
Rispen
Risperdal
Risperdal (TN)
Risperdal Consta
Risperdal M-Tab
Risperdal M-tab
Risperidal
Risperidal M-Tab
Risperidona
Risperidona [Spanish]
Risperidone
Risperidone (JAN/USAN/INN)
Risperidone (RIS)
Risperidone M-tab
Risperidone [USAN:BAN:INN]
Risperidone, placebo
Risperidonum
Risperidonum [Latin]
Risperin
Rispolept
Rispolin
S1615_Selleck
SAM001246595
SMR000466323
SPBio_003078
STK646402
Sequinan
Spiron
TL8000230
UNII-L6UH7ZF8HC
risperdone
risperidone
3
DopamineapprovedPhase 3308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
4
DonepezilapprovedPhase 3271120014-06-43152
Synonyms:
( inverted exclamation markA)-E 2020
1-Benzyl-4-[(5,6-dimethoxy-1-oxoindan-2-yl)methyl]piperidine
120014-06-4
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxy-2,3-dihydroinden-1-one
2-[(1-benzylpiperidin-4-yl)methyl]-5,6-dimethoxyindan-1-one
AB1004836
AC-6969
AC1L1FAE
AKOS000277311
Aricept
Aricept ODT
C24H29NO3
CHEBI:53289
CHEMBL502
CID3152
D07869
DB00843
Domepezil
Donaz
Donaz (TN)
 
Donepezil
Donepezil (INN)
Donepezil Hydrochloride
Donepezil [INN:BAN]
Donepezil hydrochloride
Donepezilo
Donepezilum
Eranz
I06-0343
KBio2_002144
KBio2_004712
KBio2_007280
KBioSS_002144
LS-81819
MolPort-000-881-588
MolPort-003-847-014
NCGC00167537-01
Oprea1_188452
Spectrum5_001662
Spectrum_001664
TL8000531
UNII-8SSC91326P
5
DextromethorphanapprovedPhase 3, Phase 2122125-71-35360696, 5362449
Synonyms:
( )-3-Methoxy-N-methylmorphinon
( )-cis-1,3,4,9,10,10a-Hexahydro-6-methoxy-11-methyl-2H-10,4alpha-iminoethanophenanthren
(+)-3-Methoxy-17-methylmorphinan
(-)-3-Methoxy-N-methylmorphinan
(9alpha,13alpha,14alpha)-17-methyl-3-(methyloxy)morphinan
125-69-9 (hydrobromide)
125-70-2
125-71-3
18046-32-7
18609-21-7 (hydrochloride)
3-Methoxy-17-methyl-9alpha,13alpha,14alpha-morphinan
3-Methoxy-17-methylmorphinan
32062-10-5
4-21-00-01367 (Beilstein Handbook Reference)
6700-34-1 (hydrobromide, mono-hydrate)
9alpha,13alpha,14alpha-Morphinan, 3-methoxy-17-methyl- (8CI)
AC-13098
AC1L1EYT
Albutussin
Antussan
BA 2666
BPBio1_000503
BRD-K33211335-337-03-7
BRN 0088549
BSPBio_000457
Balminil DM
Balminil DM Children
Bayer Select Flu Relief
Bayer Select Head & Chest Cold
Bayer Select Night Time Cold
Benylin Adult Formula Cough Suppressant
Benylin DM
Benylin DM (TN)
Benylin DM 12 Hour
Benylin DM for Children
Benylin DM for Children 12 Hour
Benylin Pediatric Cough Suppressant
C06947
CHEBI:128891
CHEBI:4470
CHEBI:580686
CHEMBL22207
CHEMBL52440
CID3008
CID5360696
CID5362449
Calmylin #1
Canfodion
Cerose-DM
Chloraseptic DM
Contac Day & Night Cold/Flu Day Caplets
Contac Jr. Non-drowsy Formula
Contac Nighttime Cold Medicine
Contac Severe Cold Formula Maximum Strength
Contac Severe Cold Formula Non-Drowsy
Coricidin Syrup
Cosylan
Cough Medicine soothing relief
Cough-X
Creo-Terpin
D-Methorphan
D-Methorphan Hydrobromide
D03742
DB00514
DEA No. 9210
DM
DMHM
DXM
Delsym
Delsym (dextromethorphan)
Delsym Cough Formula
Delta-Methorphan
Demorphan
Demorphan Hydrobromide
Demorphan hydrobromide
Demorphine
Destrometerfano
Destrometerfano [DCIT]
Destrometerfano [Dcit]
Dextromethorfan
Dextromethorfan [Czech]
Dextromethorphan
Dextromethorphan (USP)
Dextromethorphan Bromhydrate
Dextromethorphan Bromide
Dextromethorphan Hydrobromide
Dextromethorphan [USP:INN:BAN]
Dextromethorphan hydrobromide
Dextromethorphan hydrobromide OROS Tablets
Dextromethorphan hydrobromide [BAN:JAN]
Dextromethorphan hydrobromide monohydrate
Dextromethorphane
Dextromethorphane [INN-French]
Dextromethorphanum
Dextromethorphanum [INN-Latin]
Dextrometorfano
Dextrometorfano [INN-Spanish]
Dextrometorphan
Dextromorphan
Dextrométhorphane
Dexyromethorphan
 
Diabe-Tuss DM Syrup
Dimacol
Dimetapp DM
Dormetan
Dormethan
Drixoral Cough
Drixoral Cough & Congestion
Drixoral Cough & Sore Throat
EINECS 204-751-7
EINECS 204-752-2
Endotussin-NN
Endotussin-NN Pediatric
HMS2090C08
HSDB 3056
Hihustan M.
Hold
Hold DM
Koffex DM
L-Methorphan
LS-91837
LS-91838
Levomethorphan
Levomethorphan [BAN:DCF:INN]
Levomethorphan [Ban:Dcf:Inn]
Levomethorphan [INN:BAN:DCF]
Levomethorphane
Levomethorphane [INN-French]
Levomethorphanum
Levomethorphanum [INN-Latin]
Levometorfano
Levometorfano [INN-Spanish]
Lopac-D-2531
Lopac0_000337
MLS000758303
Medicon
Methorate
Methorate Hydrobromide
Methorphan
Metrorat
Mielim Y Mas
MolPort-003-940-943
MolPort-004-285-957
Morphinan, 3-methoxy-17-methyl-, (9-alpha,13-alpha,14-alpha)- (9CI)
NCGC00015333-01
NCGC00015333-02
NCGC00015333-04
NCGC00162126-01
Naldecon-DX
Novahistex DM
Novahistine DM
Ornex Severe Cold Formula
Orthoxicol
PediaCare 1
PediaCare Cough-Cold Formula
Pertussin CS Children's Strength
Pertussin DM Extra Strength
Prestwick0_000359
Prestwick1_000359
Prestwick2_000359
Prestwick3_000359
Prestwick_686
RACEMETHORPHAN
Robitussin CF
Robitussin Cold & Cough
Robitussin Cough Calmers
Robitussin DM
Robitussin Maximum Strength Cough
Robitussin Maximum Strength Cough Suppressant
Robitussin Pediatric
Robitussin Pediatric Cough
Robitussin Pediatric Cough & Cold
Robitussin Pediatric Cough Suppressant
Robitussin Pediatric Night Relief
Romilar
Rondec dm
Ru-Tuss Expectorant
SPBio_002378
St. Joseph Cough Syrup
Sucrets 4 Hour Cough Suppressant
Sudafed Cough Syrup
Triaminic
Triaminic DM Long Lasting for Children
Trind-DM
Trocal
Tusilan
Tussade
Tussar DM
Tussi-Organidin
Tussi-Organidin DM NR
Tussi-Organidin DM-S NR
Tylenol Cold No Drowsiness
Tylenol Cold and Flu Multi-Symptom
Tylenol Cold and Flu No Drowsiness
Tylenol Cough + Decongestant Liquid
Tylenol Cough Liquid
Tylenol Flu No Drowsiness Gelcaps
UNII-7355X3ROTS
Vicks 44 Cough Relief
Viro-Med
d-Methorphan
delta-Methorphan
dextromethorphan
l-Methorphan
6Chlorpheniramine, phenylpropanolamine drug combinationPhase 3, Phase 2512
7Antitussive AgentsPhase 3, Phase 2425
8Excitatory Amino Acid AntagonistsPhase 3, Phase 2, Phase 11095
9Antipsychotic AgentsPhase 32130
10Respiratory System AgentsPhase 3, Phase 23931
11Tranquilizing AgentsPhase 33597
12Excitatory Amino AcidsPhase 3, Phase 2, Phase 11109
13Neurotransmitter AgentsPhase 3, Phase 2, Phase 114795
14Dopamine AgentsPhase 33084
15Serotonin AntagonistsPhase 31175
16Central Nervous System DepressantsPhase 3, Phase 110016
17Psychotropic DrugsPhase 3, Phase 25501
18Dopamine AntagonistsPhase 3927
19
SerotoninPhase 3314750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
20Serotonin AgentsPhase 32668
21Cholinesterase InhibitorsPhase 3498
22Cholinergic AgentsPhase 33243
23Nootropic AgentsPhase 3604
24Glutamic AcidNutraceuticalPhase 3, Phase 2201
25
DesipramineapprovedPhase 23950-47-52995
Synonyms:
(3-(10H,11H-Dibenzo[b,f]azepin-5-yl)propyl)methylamine
10, 11-Dihydro-N-methyl-5H-dibez[b,f]azepine-5-propanamine
10,11-Dihydro-5-(3-methylaminopropyl)-5H-dibenz(b,f)azepine
3-(10,11-DIHYDRO-5H-DIBENZO[B,F]AZEPIN-5-YL)-N-METHYLPROPAN-1-AMINE
3-(10,11-DIHYDRO-5H-dibenzo[b,F]azepin-5-yl)-N-methylpropan-1-amine
3-(5,6-dihydrobenzo[b][1]benzazepin-11-yl)-N-methylpropan-1-amine
5-(gamma-Methylaminopropyl)iminodibenzyl
5-(γ-methylaminopropyl)iminodibenzyl
50-47-5
58-28-6 (hydrochloride)
AB00053450
AC-15977
AC1L1EXQ
AKOS001681456
BPBio1_000447
BRN 1432747
BSPBio_000405
BSPBio_002137
C06943
CAS-58-28-6
CCRIS 7091
CHEBI:47781
CHEMBL72
CID2995
D07791
DB01151
DB07682
DMI
DMI (pharmaceutical)
DMI 50475
Demethylimipramine
Desimipramine
Desimpramine
Desipramin
Desipramina
Desipramina [INN-Spanish]
Desipramine
Desipramine (D4)
Desipramine (INN)
Desipramine Hcl
Desipramine Hydrochloride
Desipramine [INN:BAN]
Desipraminum
Desipraminum [INN-Latin]
Desmethylimipramine
Dezipramine
Dimethylimipramine
DivK1c_000190
 
Déméthylimipramine
EINECS 200-040-0
HSDB 3052
IDI1_000190
KBio1_000190
KBio2_000921
KBio2_003489
KBio2_006057
KBio3_001357
KBioGR_000928
KBioSS_000921
L001089
LS-60421
Lopac-D-3900
Lopac0_000358
Methylaminopropyliminodibenzyl
MolPort-002-051-955
Monodemethylimipramine
N-(3-Methylaminopropyl)iminobibenzyl
N-(3-methylaminopropyl)iminobibenzyl
NCGC00015340-01
NCGC00015340-02
NCGC00015340-03
NCGC00015340-10
NCGC00024375-04
NINDS_000190
Norimipramine
Norpramin
Norpramine
Pentofran
Pertofran
Pertrofane
Prestwick0_000343
Prestwick1_000343
Prestwick2_000343
Prestwick3_000343
SPBio_000042
SPBio_002326
STK735144
STOCK2S-34822
Sertofran
Spectrum2_000091
Spectrum3_000379
Spectrum4_000314
Spectrum5_000833
Spectrum_000441
UNII-TG537D343B
ZERO/006017
desipramine
desipraminum
26
Mycophenolic acidapprovedPhase 289824280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
Melbex
 
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolic Acid
Mycophenolsaeure
Myfortic
27
Mycophenolate mofetilapproved, investigationalPhase 2898128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate Mofetil
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
28
AcetylcysteineapprovedPhase 2293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
29
ZincapprovedPhase 214777440-66-623994, 32051
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
30
MethylprednisoloneapprovedPhase 2108283-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
A-methapred
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Depo-medrol
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
31
PrednisoloneapprovedPhase 2108250-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
Flo-pred
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
MLS001304083
 
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
32
FludarabineapprovedPhase 2105921679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
 
Fludara, Fludarabine
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine Phosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
33
Cyclophosphamideapproved, investigationalPhase 2264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
34
Lovastatinapproved, investigationalPhase 25975330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
Liposcler
 
Lovalip
Lovalord
Lovastatin
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
35
Glatiramer Acetateapproved, investigationalPhase 2, Phase 194147245-92-93081884
Synonyms:
(2S)-2,6-diaminohexanoic acid
(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid
(2S)-2-aminopentanedioic acid
(2S)-2-aminopropanoic acid
147245-92-9
AC1MIXQC
Aventis brand of copolymer 1
C089995
CID3081884
COP-1
Copaxone
Copolymer 1
 
Copolymer-1
Copoylmer 1
Glatiramer acetate
Glatiramer acetate [USAN]
L-Glutamic acid peptide with L-alanine, L-lysine and L-tyrosine, acetate (salt)
L-Glutamic acid polymer with L-alanine, L-lysine and L-tyrosine, acetate (salt)
LS-186971
LS-71889
TV 5010
TV-5010
TV5010
Teva brand of copolymer 1
UNII-5M691HL4BO
acetic acid
36
Celecoxibapproved, investigationalPhase 2419169590-42-52662
Synonyms:
169590-42-5
184007-95-2
1oq5
4-(5-(4-Methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)benzenesulfonamide
4-[5-(4-METHYLPHENYL)-3-(TRIFLUOROMETHYL)-1H-PYRAZOL-1-YL]BENZENESULFONAMIDE
4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1Hpyrazol-1-yl] benzenesulfonamide
4-[5-(4-methylphenyl)-3-(trifluoromethyl)pyrazol-1-yl]benzenesulfonamide
AC-4228
AC1L1E6K
AI-525
BIDD:GT0408
BRD-K02637541-001-02-4
BSPBio_003596
Benzenesulfonamide,4-(5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl)
C07589
C105934
C17H14F3N3O2S
CCRIS 8679
CEL
CEP-33222
CHEBI:41423
CHEMBL118
CID2662
CPD000550473
Celebra
Celebrex
Celebrex (TN)
Celebrex, Celebra, Celecoxib
Celecox
Celecoxi
Celecoxib
Celecoxib (JAN/USAN/INN)
Celecoxib (SC-58635)
Celecoxib [Old RN]
Celecoxib [USAN]
Celecoxibum
Celocoxib
Célécoxib
D00567
DB00482
DivK1c_000893
Eurocox
FT-0080064
HMS1922G14
HMS2089L18
HMS2093I07
HMS502M15
HSDB 7038
I01-1033
IDI1_000893
KBio1_000893
KBio2_000912
 
KBio2_002351
KBio2_003480
KBio2_004919
KBio2_006048
KBio2_007487
KBio3_002830
KBio3_003037
KBioGR_000723
KBioGR_002351
KBioSS_000912
KBioSS_002354
LS-31667
MLS001165684
MLS001195656
MLS001304708
Medicoxib
MolPort-002-885-815
NCGC00091455-01
NCGC00091455-02
NCGC00091455-03
NCGC00091455-04
NCI60_041049
NINDS_000893
NSC719627
Onsenal
P-(5-P-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
Pfizer brand of celecoxib
S1261_Selleck
SAM002589995
SC 58635
SC-58553, SC-58635
SC-58635
SC58635
SMR000550473
SPBio_001512
SPECTRUM1503678
Solexa
Spectrum2_001576
Spectrum3_001996
Spectrum4_000182
Spectrum5_001324
Spectrum_000432
TL8001323
TPI-336
UNM-0000305813
Xilebao
YM 177
YM-177
YM177
ZINC02570895
cMAP_000027
celecoxib
p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide
37
Busulfanapproved, investigationalPhase 250655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
38
BenzocaineapprovedPhase 216841994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
39
Folic Acidapproved, nutraceuticalPhase 2292459-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic Acid
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
 
Folsaeure
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10
40
Vitamin Eapproved, nutraceuticalPhase 237159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
41Neurotransmitter Uptake InhibitorsPhase 22857
42Pharmaceutical SolutionsPhase 27004
43Antidepressive AgentsPhase 22367
44Antidepressive Agents, TricyclicPhase 2250
45Adrenergic AgentsPhase 24204
46lenograstimPhase 21134
47
MesnaPhase 22433375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
CoM
Coenzyme M
HS-CoM
48Antirheumatic AgentsPhase 2, Phase 18496
49VitaminsPhase 23857
50KrestinPhase 2189

Interventional clinical trials:

(show all 37)
idNameStatusNCT IDPhase
1A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)CompletedNCT00261508Phase 3
2Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett SyndromeRecruitingNCT00069550Phase 3
3Phase 2 Study of EPI-743 for Treatment of Rett SyndromeCompletedNCT01822249Phase 2
4Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)CompletedNCT01253317Phase 1, Phase 2
5Pilot Study of the Effects of the Desipramine on the Neurovegetative Parameters of the Child With Rett SyndromeCompletedNCT00990691Phase 2
6A Safety Study of NNZ-2566 in Patients With Rett SyndromeCompletedNCT01703533Phase 2
7Study to Assess Safety and Efficacy of Fingolimod in Children With Rett SyndromeRecruitingNCT02061137Phase 1, Phase 2
8Treatment of Rett Syndrome With Recombinant Human IGF-1RecruitingNCT01777542Phase 2
9A Safety Study of NNZ-2566 in Pediatric Rett SyndromeRecruitingNCT02715115Phase 2
10Placebo Controlled Trial of Dextromethorphan in Rett SyndromeRecruitingNCT01520363Phase 2
11Pharmacological Treatment of Rett Syndrome With StatinsRecruitingNCT02563860Phase 2
12MT2013-31: Allo HCT for Metabolic Disorders and Severe OsteopetrosisRecruitingNCT02171104Phase 2
13Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)Active, not recruitingNCT02153723Phase 2
14Treatment of Mitochondrial Dysfunction in Rett Syndrome With TriheptanoinNot yet recruitingNCT02696044Phase 2
15Trial of Dextromethorphan in Rett SyndromeTerminatedNCT00593957Phase 2
16An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum DisorderWithdrawnNCT02226458Phase 2
17An Open Label, Exploratory Study to Investigate the Treatment Effect of Glatiramer Acetate on Girls Woth Rett SyndromeRecruitingNCT02023424Phase 1
18An Exploratory Trial of Ketamine for the Treatment of Rett SyndromeActive, not recruitingNCT02562820Phase 1
19Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PWCompletedNCT02670694
20Creatine Metabolism in Rett SyndromeCompletedNCT01198015
21Effects of Creatine Supplementation in Rett SyndromeCompletedNCT01147575
22Metabolic Evaluation of Nutrition in Rett SyndromeCompletedNCT00786071
23Genetic and Physical Characteristics of Rett SyndromeCompletedNCT00299312
24Functional Abilities in Rett SyndromeCompletedNCT00630422
25The Role of Family Functioning in Adaptation to Being a Caregiver of an Individual With Rett SyndromeCompletedNCT00891956
26Study of Cardiac and Paroxysmal Abnormalities in Rett SyndromeCompletedNCT00004773
27Nutritional Aspects of Rett SyndromeCompletedNCT00004656
28Study of the Pathogenesis of Rett SyndromeCompletedNCT00004807
29Advanced Grandparental Age as a Risk Factor for AutismCompletedNCT00464477
30Predictors of Caregiver Adaptation to Pervasive Developmental DisordersCompletedNCT00496210
31Natural History of Rett Syndrome & Related DisordersRecruitingNCT02738281
32Biobanking of Rett Syndrome and Related DisordersRecruitingNCT02705677
33Brainstem and PrematurityRecruitingNCT02669056
34Screening for Studies on Autism Spectrum DisordersRecruitingNCT00271622
35Osteoporosis in RETT SyndromeActive, not recruitingNCT02110797
36Effects of Standing on Non-Ambulatory Children With Neuromuscular ConditionsNot yet recruitingNCT02428673
37Analysis of the Glutathione Cycle in Children With Rett SyndromeWithdrawnNCT02360436

Search NIH Clinical Center for Rett Syndrome


Cochrane evidence based reviews: rett syndrome

Genetic Tests for Rett Syndrome

About this section

Genetic tests related to Rett Syndrome:

id Genetic test Affiliating Genes
1 Rett Syndrome22

Anatomical Context for Rett Syndrome

About this section

MalaCards organs/tissues related to Rett Syndrome:

33
Brain, Testes, Lung, Bone, T cells, Endothelial, Heart

Animal Models for Rett Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Rett Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.1BDNF, CDKL5, DLX5, FOXG1, SYN1
2MP:00053829.7BDNF, DLX5, DLX6, FOXG1, MBD4, MECP2
3MP:00053919.6BDNF, CDKL5, CHAT, FOXG1, GPM6B, JMJD1C
4MP:00053779.4BDNF, DLX5, DLX6, FOXG1, GPM6B, MECP2
5MP:00053868.6BDNF, CDKL5, CHAT, DLX5, FOXG1, GABRA3
6MP:00036318.3BDNF, CDKL5, CHAT, DLX5, DLX6, FOXG1
7MP:00107688.2BDNF, CHAT, DLX5, DLX6, FOXG1, GPM6B

Publications for Rett Syndrome

About this section

Articles related to Rett Syndrome:

(show top 50)    (show all 766)
idTitleAuthorsYear
1
The additional lateralizing and localizing value of the postictal EEG in frontal lobe epilepsy. (26750581)
2016
2
PfRH5 as a candidate vaccine for Plasmodium falciparum malaria. (25704640)
2015
3
Fer tyrosine kinase oligomer mediates and amplifies Src-induced tumor progression. (25867068)
2015
4
Does Lymphadenectomy Improve Survival in Uterine Leiomyosarcoma? (25853382)
2015
5
Asymptomatic intraperitoneal ascariasis: Importance of diagnostic laparoscopy. (25013334)
2014
6
Early detection of metabolic syndrome in workers: a one-year follow-up study. (24360158)
2014
7
Dysfunctional and compensatory synaptic plasticity in Parkinson's disease. (24313650)
2013
8
De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis. (23918747)
2013
9
PTPN22 modulates macrophage polarization and susceptibility to dextran sulfate sodium-induced colitis. (23913970)
2013
10
The incidence of hepatosplenic T-cell lymphoma in a large managed care organization, with reference to anti-tumor necrosis factor therapy, Northern California, 2000-2006. (21823196)
2012
11
Leukotriene Inhibitors in Sinusitis. (22286339)
2012
12
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (20978473)
2011
13
Alternative splicing in class V myosins determines association with Rab10. (19008234)
2009
14
Quantitative sensation and autonomic test abnormalities in transthyretin amyloidosis polyneuropathy. (19618439)
2009
15
Synthesis of novel tadalafil analogues and their evaluation as phosphodiesterase inhibitors and anticancer agents. (19813465)
2009
16
STIM1-Orai1 interactions and Orai1 conformational changes revealed by live-cell FRET microscopy. (18832420)
2008
17
A requirement for calcium in the caspase-independent killing of Burkitt lymphoma cell lines by Rituximab. (18544085)
2008
18
Modulation of porcine wound repair with a transfected ErbB3 gene and relevant EGF-like ligands. (17124505)
2007
19
Therapeutic T cells induce tumor-directed chemotaxis of innate immune cells through tumor-specific secretion of chemokines and stimulation of B16BL6 melanoma to secrete chemokines. (18001476)
2007
20
Effect of constitutive androstane receptor on the cytotoxicity of mitomycin C and 5-(aziridin-1-yl)-3-hydroxymethyl-1-methylindole-4,7-dione]. (17633202)
2007
21
Indoleamine 2,3-dioxygenase (IDO) expression in lung cancer. (17700060)
2007
22
Adenomatous polyposis coli determines sensitivity to histone deacetylase inhibitor-induced apoptosis in colon cancer cells. (16982769)
2006
23
Apolipoprotein A5 gene promoter region T-1131C polymorphism associates with elevated circulating triglyceride levels and confers susceptibility for development of ischemic stroke. (16954607)
2006
24
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. (15691365)
2005
25
Bcr-Abl regulates osteopontin transcription via Ras, PI-3K, aPKC, Raf-1, and MEK. (15857938)
2005
26
CXCR4 antagonist inhibits stromal cell-derived factor 1-induced migration and invasion of human pancreatic cancer. (14749473)
2004
27
Gene expression profiles for detecting and distinguishing potential endocrine-disrupting compounds in environmental samples. (15597897)
2004
28
Effects of chemokines on proliferation and apoptosis of human mesangial cells. (15265234)
2004
29
Association of the T45G polymorphism in exon 2 of the adiponectin gene with polycystic ovary syndrome: role of Delta4-androstenedione. (15178661)
2004
30
Gamma (gamma) tocopherol upregulates peroxisome proliferator activated receptor (PPAR) gamma (gamma) expression in SW 480 human colon cancer cell lines. (14521714)
2003
31
Roles of FAK family kinases in nervous system. (12700130)
2003
32
Nedocromil sodium ophthalmic solution 2% twice daily in patients with allergic conjunctivitis. (12069370)
2002
33
Accessory proteins that control the assembly of MHC molecules with peptides. (11444385)
2001
34
High levels of human herpesvirus 8 viral load, human interleukin-6, interleukin-10, and C reactive protein correlate with exacerbation of multicentric castleman disease in HIV-infected patients. (10979949)
2000
35
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. (10465108)
1999
36
A new mouse model of experimental melanoma for vaccine and lymphokine therapy. (9664134)
1998
37
Alpha-fetoprotein-mediated targeting--a new strategy to overcome multidrug resistance of tumour cells in vitro. (9812343)
1997
38
Mycobacterium tuberculosis antigen, interleukin 2 and interleukin 2 inhibitor in patients with rheumatoid arthritis. (8575840)
1995
39
Case report: granular cell myoblastoma of the breast: a rare benign tumour mimicking breast carcinoma. (7489634)
1995
40
Intrauterine intravascular transfusions in fetal erythroblastosis: the influence of net transfusion volume on fetal survival. (8382426)
1993
41
Adhesion of dentin bonding agents after smear layer treatments. (1524739)
1992
42
Family study of hereditary xanthinuria--decreased duodenal xanthine oxidase activity and increased urinary excretion of xanthine and hypoxanthine in heterozygotes. (2624237)
1989
43
Mycetoma due to Exophiala jeanselmei (a case report with description of the fungus). (3781614)
1986
44
Arteriovenous shunting in quadriplegia. (2946017)
1986
45
Spermatic cord torsion in the neonate. (6827663)
1983
46
Duodenal atresia and stenosis--long-term results. (141056)
1977
47
A comparative study of glycopeptides derived from selected vertebrate collagens. A possible role of the carbohydrate in fibril formation. (4319110)
1970
48
OCULAR MANIFESTATIONS OF FACIAL HEMIATROPHY. (14064456)
1963
49
50

Variations for Rett Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Rett Syndrome:

67 (show all 39)
id Symbol AA change Variation ID SNP ID
1MECP2p.Arg106TrpVAR_010272rs28934907
2MECP2p.Arg133CysVAR_010273rs28934904
3MECP2p.Phe155SerVAR_010274rs28934905
4MECP2p.Thr158MetVAR_010275rs28934906
5MECP2p.Pro101ArgVAR_010276
6MECP2p.Leu124PheVAR_010277
7MECP2p.Ser134CysVAR_010278
8MECP2p.Pro152ArgVAR_010280
9MECP2p.Arg306CysVAR_010282rs28935468
10MECP2p.Leu100ValVAR_017462rs28935168
11MECP2p.Glu10GlnVAR_018180
12MECP2p.Asp97TyrVAR_018182
13MECP2p.Pro101HisVAR_018183
14MECP2p.Pro101LeuVAR_018184
15MECP2p.Pro101ThrVAR_018185
16MECP2p.Arg106GlnVAR_018186
17MECP2p.Arg111GlyVAR_018187
18MECP2p.Gln128ProVAR_018188
19MECP2p.Arg133HisVAR_018189
20MECP2p.Lys135GluVAR_018190
21MECP2p.Asp156GlyVAR_018191
22MECP2p.Lys210IleVAR_018197
23MECP2p.Pro225ArgVAR_018198
24MECP2p.Pro302AlaVAR_018206
25MECP2p.Pro302HisVAR_018207
26MECP2p.Pro302LeuVAR_018208
27MECP2p.Pro302ArgVAR_018209
28MECP2p.Lys305ArgVAR_018210
29MECP2p.Arg306HisVAR_018211
30MECP2p.Pro322AlaVAR_018212
31MECP2p.Pro322LeuVAR_018213
32MECP2p.Arg344TrpVAR_018214
33MECP2p.Asp97GluVAR_023552
34MECP2p.Leu100ArgVAR_023553
35MECP2p.Pro101SerVAR_023554
36MECP2p.Tyr120AspVAR_023555
37MECP2p.Phe155IleVAR_023556
38MECP2p.Thr158AlaVAR_023557
39MECP2p.Gly161ValVAR_023558

Clinvar genetic disease variations for Rett Syndrome:

5 (show all 434)
id Gene Variation Type Significance SNP ID Assembly Location
1CDKL5NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe)single nucleotide variantPathogenicrs122460157GRCh37Chr X, 18600062: 18600062
2CDKL5NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser)single nucleotide variantPathogenicrs61749700GRCh37Chr X, 18602444: 18602444
3CDKL5NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter)single nucleotide variantPathogenicrs122460158GRCh37Chr X, 18646494: 18646494
4CDKL5NM_003159.2(CDKL5): c.119C> T (p.Ala40Val)single nucleotide variantPathogenicrs122460159GRCh37Chr X, 18582616: 18582616
5CDKL5NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr)single nucleotide variantLikely pathogenic, Pathogenicrs62641235GRCh37Chr X, 18593543: 18593543
6MECP2NM_004992.3(MECP2): c.397C> T (p.Arg133Cys)single nucleotide variantPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
7MECP2NM_004992.3(MECP2): c.464T> C (p.Phe155Ser)single nucleotide variantPathogenicrs28934905GRCh37Chr X, 153296815: 153296815
8MECP2NM_004992.3(MECP2): c.473C> T (p.Thr158Met)single nucleotide variantPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
9MECP2MECP2, 1-BP DEL, 806GdeletionPathogenic
10MECP2MECP2, 44-BP DEL, NT1152deletionPathogenic
11MECP2NM_004992.3(MECP2): c.316C> T (p.Arg106Trp)single nucleotide variantPathogenicrs28934907GRCh37Chr X, 153297719: 153297719
12MECP2NM_004992.3(MECP2): c.808C> T (p.Arg270Ter)single nucleotide variantPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
13MECP2MECP2, IVS2, A-G, -2single nucleotide variantPathogenic
14MECP2NM_004992.3(MECP2): c.1180G> T (p.Glu394Ter)single nucleotide variantPathogenicrs63094662GRCh37Chr X, 153296099: 153296099
15MECP2NM_004992.3(MECP2): c.167_168delCC (p.Pro56Argfs)deletionPathogenicrs267608434GRCh37Chr X, 153297867: 153297868
16MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
17MECP2MECP2, 41-BP DEL, NT1157deletionPathogenic, risk factor
18MECP2MECP2, 41-BP DEL, NT1159deletionPathogenic
19MECP2NM_004992.3(MECP2): c.419C> T (p.Ala140Val)single nucleotide variantLikely pathogenic, Pathogenicrs28934908GRCh37Chr X, 153296860: 153296860
20MECP2NM_004992.3(MECP2): c.916C> T (p.Arg306Cys)single nucleotide variantPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
21MECP2MECP2, 1-BP DEL, 76CdeletionPathogenic
22MECP2MECP2, 14-BP DUP, NT766duplicationPathogenic
23MECP2NM_004992.3(MECP2): c.502C> T (p.Arg168Ter)single nucleotide variantPathogenicrs61748421GRCh37Chr X, 153296777: 153296777
24MECP2NM_004992.3(MECP2): c.763C> T (p.Arg255Ter)single nucleotide variantPathogenicrs61749721GRCh37Chr X, 153296516: 153296516
25MECP2MECP2, 52-BP DELdeletionPathogenic
26MECP2NM_004992.3(MECP2): c.423C> G (p.Tyr141Ter)single nucleotide variantPathogenicrs61748396GRCh37Chr X, 153296856: 153296856
27MECP2NM_004992.3(MECP2): c.1363G> T (p.Glu455Ter)single nucleotide variantPathogenicrs104894864GRCh37Chr X, 153295916: 153295916
28MECP2NM_004992.3(MECP2): c.298C> G (p.Leu100Val)single nucleotide variantPathogenicrs28935168GRCh37Chr X, 153297737: 153297737
29MECP2MECP2, 11-BP DEL, EX1deletionPathogenic
30MECP2MECP2, 5-BP DUP, EX1duplicationPathogenic
31MECP2MECP2, 1-BP DEL AND 2-BP INSindelPathogenic
32MECP2MECP2, 2-BP DEL, 488GGdeletionPathogenic
33MECP2NM_004992.3(MECP2): c.674C> T (p.Pro225Leu)single nucleotide variantPathogenicrs61749715GRCh37Chr X, 153296605: 153296605
34MECP2NM_001110792.1(MECP2): c.5C> T (p.Ala2Val)single nucleotide variantLikely pathogenic, Pathogenicrs179363901GRCh37Chr X, 153363118: 153363118
35MECP2NM_004992.3(MECP2): c.710delG (p.Gly237Valfs)deletionPathogenicrs61749743GRCh37Chr X, 153296569: 153296569
36MECP2NM_004992.3(MECP2): c.602C> T (p.Ala201Val)single nucleotide variantPathogenicrs61748381GRCh37Chr X, 153296677: 153296677
37MECP2NM_004992.3(MECP2): c.(?_-1)_(26_?)deldeletionPathogenic
38MECP2NM_004992.3(MECP2): c.1009_1027del19 (p.Lys337Glyfs)deletionPathogenicrs267608559GRCh37Chr X, 153296252: 153296270
39MECP2NM_004992.3(MECP2): c.100_103delGATA (p.Asp34Argfs)deletionPathogenicrs61754428GRCh37Chr X, 153297932: 153297935
40MECP2NM_004992.3(MECP2): c.1038C> G (p.Ser346Arg)single nucleotide variantPathogenicrs61752365GRCh37Chr X, 153296241: 153296241
41MECP2NM_004992.3(MECP2): c.1069_1071delAGC (p.Ser357del)deletionPathogenicrs267608564GRCh37Chr X, 153296208: 153296210
42MECP2NM_004992.3(MECP2): c.1079C> A (p.Ser360Ter)single nucleotide variantPathogenicrs61752372GRCh37Chr X, 153296200: 153296200
43MECP2NM_004992.3(MECP2): c.107_108delAA (p.Lys36Argfs)deletionPathogenicrs267608425GRCh37Chr X, 153297927: 153297928
44MECP2NM_001110792.1(MECP2): c.143_149delAAGAAGA (p.Lys48Argfs)deletionPathogenicrs267608424GRCh37Chr X, 153297922: 153297928
45MECP2NM_004992.3(MECP2): c.1087A> T (p.Lys363Ter)single nucleotide variantPathogenicrs61752375GRCh37Chr X, 153296192: 153296192
46MECP2NM_004992.3(MECP2): c.108_111delAGAA (p.Glu37Argfs)deletionPathogenicrs267608426GRCh37Chr X, 153297924: 153297927
47MECP2NM_004992.3(MECP2): c.1099_1118del20 (p.His367Argfs)deletionPathogenicrs267608567GRCh37Chr X, 153296161: 153296180
48MECP2NM_004992.3(MECP2): c.1118C> G (p.Ser373Ter)single nucleotide variantPathogenicrs267608569GRCh37Chr X, 153296161: 153296161
49MECP2NM_001110792.1(MECP2): c.1163_1173delCAAAGGCCCCC (p.Pro388Argfs)deletionPathogenicrs267608570GRCh37Chr X, 153296142: 153296152
50MECP2NM_004992.3(MECP2): c.1145_1194del50 (p.Leu382Profs)deletionPathogenicrs267608573GRCh37Chr X, 153296085: 153296134
51MECP2NM_004992.3(MECP2): c.1150_1192del43 (p.Pro384Thrfs)deletionPathogenicrs63749023GRCh37Chr X, 153296087: 153296129
52MECP2NM_004992.3(MECP2): c.1151_1188del38 (p.Pro384Argfs)deletionPathogenicrs267608574GRCh37Chr X, 153296091: 153296128
53MECP2NM_004992.3(MECP2): c.1151_1191del41 (p.Pro384Argfs)deletionPathogenicrs63749024GRCh37Chr X, 153296088: 153296128
54MECP2NM_001110792.1(MECP2): c.1188_1191delACCC (p.Pro397Cysfs)deletionPathogenicrs267608576GRCh38Chr X, 154030673: 154030676
55MECP2NM_004992.3(MECP2): c.1152_1195del44 (p.Pro385Hisfs)deletionPathogenicrs267608372GRCh37Chr X, 153296084: 153296127
56MECP2NM_004992.3(MECP2): c.1153_1190del38 (p.Pro385Glyfs)deletionPathogenicrs267608577GRCh37Chr X, 153296089: 153296126
57MECP2NM_004992.3(MECP2): c.1154_1185del32 (p.Pro385Leufs)deletionPathogenicrs267608578GRCh37Chr X, 153296094: 153296125
58MECP2NM_004992.3(MECP2): c.1154_1197del44 (p.Pro385Hisfs)deletionPathogenicrs267608579GRCh37Chr X, 153296082: 153296125
59MECP2NM_004992.3(MECP2): c.1155_1183del29 (p.Pro387Argfs)deletionPathogenicrs267608580GRCh37Chr X, 153296096: 153296124
60MECP2NM_004992.3(MECP2): c.1155_1200del46 (p.Leu386Alafs)deletionPathogenicrs267608329GRCh37Chr X, 153296079: 153296124
61MECP2NM_004992.3(MECP2): c.1156_1157dupCT (p.Pro387Cysfs)duplicationPathogenicrs267608584GRCh37Chr X, 153296122: 153296123
62MECP2NM_004992.3(MECP2): c.1156_1172del17 (p.Leu386Terfs)deletionPathogenicrs267608582GRCh37Chr X, 153296107: 153296123
63MECP2NM_004992.3(MECP2): c.1157_1187del31 (p.Leu386Profs)deletionPathogenicrs61754419GRCh37Chr X, 153296092: 153296122
64MECP2NM_004992.3(MECP2): c.1157_1188del32 (p.Leu386Argfs)deletionPathogenicrs267608585GRCh37Chr X, 153296091: 153296122
65MECP2NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs)deletionPathogenicrs267608327GRCh37Chr X, 153296082: 153296122
66MECP2NM_004992.3(MECP2): c.1157_1199del43 (p.Leu386Profs)deletionPathogenicrs267608587GRCh37Chr X, 153296080: 153296122
67MECP2NM_004992.3(MECP2): c.1157_1200del44 (p.Leu386Glnfs)deletionPathogenicrs63749748GRCh37Chr X, 153296079: 153296122
68MECP2NM_001110792.1(MECP2): c.1194_1203delGCCCCCACCT (p.Pro399Hisfs)deletionPathogenicrs63583161GRCh37Chr X, 153296112: 153296121
69MECP2NM_004992.3(MECP2): c.1158_1186del29 (p.Pro387Argfs)deletionPathogenicrs63749029GRCh37Chr X, 153296093: 153296121
70MECP2NM_004992.3(MECP2): c.1158_1186del29insCCA (p.Pro387Hisfs)indelPathogenicrs386134271GRCh37Chr X, 153296093: 153296121
71MECP2NM_004992.3(MECP2): c.1158_1198del41 (p.Pro387Glnfs)deletionPathogenicrs267608588GRCh37Chr X, 153296081: 153296121
72MECP2NM_004992.3(MECP2): c.1158_1200del43 (p.Pro387Alafs)deletionPathogenicrs63009262GRCh37Chr X, 153296079: 153296121
73MECP2NM_004992.3(MECP2): c.1159_1160delCCinsT (p.Pro387Serfs)indelPathogenicrs267608590GRCh37Chr X, 153296119: 153296120
74MECP2NM_004992.3(MECP2): c.1159_1201del43 (p.Pro387Alafs)deletionPathogenicrs63749030GRCh37Chr X, 153296078: 153296120
75MECP2NM_001110792.1(MECP2): c.1196_1202delCCCCACC (p.Pro399Leufs)deletionPathogenicrs267608595GRCh37Chr X, 153296113: 153296119
76MECP2NM_004992.3(MECP2): c.1160_1185del26 (p.Pro387Leufs)deletionPathogenicrs267608591GRCh37Chr X, 153296094: 153296119
77MECP2NM_004992.3(MECP2): c.1160_1188del29 (p.Pro387Argfs)deletionPathogenicrs267608593GRCh37Chr X, 153296091: 153296119
78MECP2NM_004992.3(MECP2): c.1160_1200del41 (p.Pro387Glnfs)deletionPathogenicrs267608592GRCh37Chr X, 153296079: 153296119
79MECP2NM_004992.3(MECP2): c.1161_1205del45insA (p.Pro389Terfs)indelPathogenicrs267608596GRCh37Chr X, 153296074: 153296118
80MECP2NM_004992.3(MECP2): c.1163_1179del17 (p.Pro388Argfs)deletionPathogenicrs267608601GRCh37Chr X, 153296100: 153296116
81MECP2NM_004992.3(MECP2): c.1163_1188del26 (p.Pro388Argfs)deletionPathogenicrs267608600GRCh37Chr X, 153296091: 153296116
82MECP2NM_004992.3(MECP2): c.1163_1197del35 (p.Pro388Hisfs)deletionPathogenicrs267608589GRCh37Chr X, 153296082: 153296116
83MECP2NM_004992.3(MECP2): c.1164_1206del43 (p.Pro389Leufs)deletionPathogenicrs267608603GRCh37Chr X, 153296073: 153296115
84MECP2NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs)deletionPathogenicrs61752992GRCh37Chr X, 153296072: 153296115
85MECP2NM_004992.3(MECP2): c.1164delA (p.Pro389Leufs)deletionPathogenicrs267608606GRCh37Chr X, 153296115: 153296115
86MECP2NM_004992.3(MECP2): c.1165_1190del26 (p.Pro389Glyfs)deletionPathogenicrs267608607GRCh37Chr X, 153296089: 153296114
87MECP2NM_004992.3(MECP2): c.1167_1200del34 (p.Pro390Alafs)deletionPathogenicrs267608343GRCh37Chr X, 153296079: 153296112
88MECP2NM_004992.3(MECP2): c.(?_1169)_(1170_?)del (p.(?))deletionPathogenic
89MECP2NM_004992.3(MECP2): c.1170_1207del38 (p.Pro391Terfs)deletionPathogenicrs267608609GRCh37Chr X, 153296072: 153296109
90MECP2NM_004992.3(MECP2): c.117dupA (p.Glu40Argfs)duplicationPathogenicrs267608427GRCh37Chr X, 153297918: 153297918
91MECP2NM_004992.3(MECP2): c.1189G> T (p.Glu397Ter)single nucleotide variantPathogenicrs56268439GRCh37Chr X, 153296090: 153296090
92MECP2NM_004992.3(MECP2): c.1190dupA (p.Asp398Glyfs)duplicationPathogenicrs267608610GRCh37Chr X, 153296089: 153296089
93MECP2NM_004992.3(MECP2): c.1194_1195insT (p.Pro399Serfs)insertionPathogenicrs61753011GRCh37Chr X, 153296084: 153296085
94MECP2NM_004992.3(MECP2): c.1197dupC (p.Thr400Hisfs)duplicationPathogenicrs267608612GRCh37Chr X, 153296082: 153296082
95MECP2NM_004992.3(MECP2): c.119_120delAG (p.Glu40Glyfs)deletionPathogenicrs267608428GRCh37Chr X, 153297915: 153297916
96MECP2NM_004992.3(MECP2): c.1200dupC (p.Ser401Glnfs)duplicationPathogenicrs267608613GRCh37Chr X, 153296079: 153296079
97MECP2NM_004992.3(MECP2): c.1202dupG (p.Ser401Argfs)duplicationPathogenicrs267608614GRCh37Chr X, 153296077: 153296077
98MECP2NM_004992.3(MECP2): c.1216C> T (p.Gln406Ter)single nucleotide variantPathogenicrs61753965GRCh37Chr X, 153296063: 153296063
99MECP2NM_004992.3(MECP2): c.1223_1265del43 (p.Leu408Serfs)deletionPathogenicrs63749038GRCh37Chr X, 153296014: 153296056
100MECP2NM_004992.3(MECP2): c.1235_1260del26 (p.Val412Glyfs)deletionPathogenicrs267608617GRCh37Chr X, 153296019: 153296044
101MECP2NM_004992.3(MECP2): c.1265_1289del25insAGCGGCCG (p.Gly422Glufs)indelPathogenicrs63749064GRCh37Chr X, 153295990: 153296014
102MECP2NM_004992.3(MECP2): c.126dupG (p.His43Alafs)duplicationPathogenicrs61754430GRCh37Chr X, 153297909: 153297909
103MECP2NM_004992.3(MECP2): c.1308_1309delTC (p.Gln437Alafs)deletionPathogenicrs61753972GRCh37Chr X, 153295970: 153295971
104MECP2NM_004992.3(MECP2): c.1320dupT (p.Ala441Cysfs)duplicationPathogenicrs267608624GRCh37Chr X, 153295959: 153295959
105MECP2NM_004992.3(MECP2): c.1357C> T (p.Arg453Ter)single nucleotide variantPathogenicrs61753979GRCh37Chr X, 153295922: 153295922
106MECP2NM_004992.3(MECP2): c.1364_1365insC (p.Glu455Aspfs)insertionPathogenicrs267608627GRCh37Chr X, 153295914: 153295915
107MECP2NM_004992.3(MECP2): c.(?_1367)_(1431_?)del (p.(?))deletionPathogenic
108MECP2NM_004992.3(MECP2): c.140dupA (p.Pro48Alafs)duplicationPathogenicrs61754431GRCh37Chr X, 153297895: 153297895
109MECP2NM_004992.3(MECP2): c.1450_*12del24deletionPathogenicrs267608637GRCh37Chr X, 153295806: 153295829
110MECP2NM_004992.3(MECP2): c.1450_1453delAGAG (p.Arg484Leufs)deletionPathogenicrs267608638GRCh37Chr X, 153295826: 153295829
111MECP2NM_001110792.1(MECP2): c.1488_1489dupAG (p.Val497Glufs)duplicationPathogenicrs267608639GRCh37Chr X, 153295826: 153295827
112MECP2NM_001110792.1(MECP2): c.1490_1493delTTAG (p.Val497Alafs)deletionLikely pathogenicrs267608640GRCh37Chr X, 153295822: 153295825
113MECP2NM_004992.3(MECP2): c.1455_1456dupTA (p.Ser486Ilefs)duplicationPathogenicrs267608641GRCh37Chr X, 153295823: 153295824
114MECP2NM_004992.3(MECP2): c.146C> A (p.Ser49Ter)single nucleotide variantPathogenicrs61754432GRCh37Chr X, 153297889: 153297889
115MECP2NM_004992.3(MECP2): c.146C> G (p.Ser49Ter)single nucleotide variantPathogenicrs61754432GRCh37Chr X, 153297889: 153297889
116MECP2NM_004992.3(MECP2): c.189_190delGA (p.Glu63Aspfs)deletionPathogenicrs61754436GRCh37Chr X, 153297845: 153297846
117MECP2NM_004992.3(MECP2): c.194C> G (p.Ser65Ter)single nucleotide variantPathogenicrs61754437GRCh37Chr X, 153297841: 153297841
118MECP2NM_004992.3(MECP2): c.201delG (p.Ser68Glnfs)deletionPathogenicrs61754438GRCh37Chr X, 153297834: 153297834
119MECP2NM_004992.3(MECP2): c.203C> G (p.Ser68Ter)single nucleotide variantPathogenicrs267608438GRCh37Chr X, 153297832: 153297832
120MECP2NM_004992.3(MECP2): c.215_216insT (p.Ala73Glyfs)insertionPathogenicrs61754441GRCh37Chr X, 153297819: 153297820
121MECP2NM_004992.3(MECP2): c.215dupC (p.Ala73Glyfs)duplicationPathogenicrs61754441GRCh37Chr X, 153297820: 153297820
122MECP2NM_004992.3(MECP2): c.224C> T (p.Pro75Leu)single nucleotide variantPathogenicrs267608440GRCh37Chr X, 153297811: 153297811
123MECP2NM_004992.3(MECP2): c.233delC (p.Ser78Leufs)deletionPathogenicrs267608442GRCh37Chr X, 153297802: 153297802
124MECP2NM_004992.3(MECP2): c.243dupC (p.Lys82Glnfs)duplicationPathogenicrs267608443GRCh37Chr X, 153297792: 153297792
125MECP2NM_004992.3(MECP2): c.258_259delCA (p.Ile87Hisfs)deletionPathogenicrs267608444GRCh37Chr X, 153297776: 153297777
126MECP2NM_004992.3(MECP2): c.274G> T (p.Gly92Ter)single nucleotide variantPathogenicrs267608445GRCh37Chr X, 153297761: 153297761
127MECP2NM_004992.3(MECP2): c.275dupG (p.Pro93Thrfs)duplicationPathogenicrs267608446GRCh37Chr X, 153297760: 153297760
128MECP2NM_004992.3(MECP2): c.28G> T (p.Glu10Ter)single nucleotide variantPathogenicrs61754421GRCh37Chr X, 153298007: 153298007
129MECP2NM_004992.3(MECP2): c.295_297delACC (p.Thr99del)deletionPathogenicrs267608449GRCh37Chr X, 153297738: 153297740
130MECP2NM_004992.3(MECP2): c.302C> A (p.Pro101His)single nucleotide variantPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
131MECP2NM_004992.3(MECP2): c.302C> G (p.Pro101Arg)single nucleotide variantPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
132MECP2NM_004992.3(MECP2): c.302C> T (p.Pro101Leu)single nucleotide variantPathogenicrs61754453GRCh37Chr X, 153297733: 153297733
133MECP2NM_004992.3(MECP2): c.311G> A (p.Trp104Ter)single nucleotide variantPathogenicrs61754455GRCh37Chr X, 153297724: 153297724
134MECP2NM_001110792.1(MECP2): c.347_359delGGACACGGAAGCT (p.Trp116Leufs)deletionPathogenicrs63749010GRCh37Chr X, 153297712: 153297724
135MECP2NM_004992.3(MECP2): c.315dupA (p.Arg106Thrfs)duplicationPathogenicrs61754456GRCh37Chr X, 153297720: 153297720
136MECP2NM_004992.3(MECP2): c.317G> A (p.Arg106Gln)single nucleotide variantPathogenicrs61754457GRCh37Chr X, 153297718: 153297718
137MECP2NM_004992.3(MECP2): c.326dupA (p.Gln110Alafs)duplicationPathogenicrs267608452GRCh37Chr X, 153297709: 153297709
138MECP2NM_004992.3(MECP2): c.345delC (p.Ser116Leufs)deletionPathogenicrs61755761GRCh37Chr X, 153297690: 153297690
139MECP2NM_001110792.1(MECP2): c.71_78dupAGTCAGAA (p.Asp27Serfs)duplicationPathogenicrs63749008GRCh37Chr X, 153297993: 153298000
140MECP2NM_004992.3(MECP2): c.375delC (p.Asn126Ilefs)deletionPathogenicrs267608457GRCh37Chr X, 153297660: 153297660
141MECP2NM_004992.3(MECP2): c.382C> T (p.Gln128Ter)single nucleotide variantPathogenicrs267608469GRCh37Chr X, 153296897: 153296897
142MECP2NM_004992.3(MECP2): c.398G> A (p.Arg133His)single nucleotide variantPathogenicrs61748389GRCh37Chr X, 153296881: 153296881
143MECP2NM_004992.3(MECP2): c.401C> G (p.Ser134Cys)single nucleotide variantPathogenicrs61748390GRCh37Chr X, 153296878: 153296878
144MECP2NM_004992.3(MECP2): c.411delG (p.Glu137Aspfs)deletionPathogenicrs61748393GRCh37Chr X, 153296868: 153296868
145MECP2NM_004992.3(MECP2): c.413T> A (p.Leu138Ter)single nucleotide variantPathogenicrs267608475GRCh37Chr X, 153296866: 153296866
146MECP2NM_004992.3(MECP2): c.420delG (p.Tyr141Thrfs)deletionPathogenicrs267608476GRCh37Chr X, 153296859: 153296859
147MECP2NM_004992.3(MECP2): c.428_429insT (p.Glu143Aspfs)insertionPathogenicrs61748398GRCh37Chr X, 153296850: 153296851
148MECP2NM_004992.3(MECP2): c.430A> T (p.Lys144Ter)single nucleotide variantPathogenicrs61748399GRCh37Chr X, 153296849: 153296849
149MECP2NM_004992.3(MECP2): c.431delA (p.Lys144Argfs)deletionPathogenicrs61748400GRCh37Chr X, 153296848: 153296848
150MECP2NM_004992.3(MECP2): c.439delG (p.Asp147Thrfs)deletionPathogenicrs62952161GRCh37Chr X, 153296840: 153296840
151MECP2NM_004992.3(MECP2): c.451delG (p.Asp151Thrfs)deletionPathogenicrs61748402GRCh37Chr X, 153296828: 153296828
152MECP2NM_004992.3(MECP2): c.455C> G (p.Pro152Arg)single nucleotide variantPathogenicrs61748404GRCh37Chr X, 153296824: 153296824
153MECP2NM_004992.3(MECP2): c.470_471delTC (p.Phe157Tyrfs)deletionPathogenicrs267608483GRCh38Chr X, 154031357: 154031358
154MECP2NM_004992.3(MECP2): c.470dupT (p.Thr158Hisfs)duplicationPathogenicrs267608482GRCh37Chr X, 153296809: 153296809
155MECP2NM_004992.3(MECP2): c.475delG (p.Val159Terfs)deletionPathogenicrs267608485GRCh37Chr X, 153296804: 153296804
156MECP2NM_004992.3(MECP2): c.480_481delTG (p.Gly161Glufs)deletionPathogenicrs267608486GRCh37Chr X, 153296798: 153296799
157MECP2NM_004992.3(MECP2): c.480delT (p.Arg162Glufs)deletionPathogenicrs61748415GRCh37Chr X, 153296799: 153296799
158MECP2NM_004992.3(MECP2): c.483delG (p.Arg162Glufs)deletionPathogenicrs61748418GRCh37Chr X, 153296796: 153296796
159MECP2NM_004992.3(MECP2): c.484dupA (p.Arg162Lysfs)duplicationPathogenicrs267608487GRCh37Chr X, 153296795: 153296795
160MECP2NM_004992.3(MECP2): c.488_489delGG (p.Gly163Glufs)deletionPathogenicrs267608488GRCh37Chr X, 153296790: 153296791
161MECP2NM_004992.3(MECP2): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs61748420GRCh37Chr X, 153296780: 153296780
162MECP2NM_004992.3(MECP2): c.508C> T (p.Gln170Ter)single nucleotide variantPathogenicrs61748425GRCh38Chr X, 154031320: 154031320
163MECP2NM_004992.3(MECP2): c.50dupA (p.Asp17Glufs)duplicationPathogenicrs267608416GRCh37Chr X, 153297985: 153297985
164MECP2NM_004992.3(MECP2): c.518C> G (p.Pro173Arg)single nucleotide variantPathogenicrs267608492GRCh37Chr X, 153296761: 153296761
165MECP2NM_004992.3(MECP2): c.531delA (p.Lys177Asnfs)deletionPathogenicrs61749703GRCh37Chr X, 153296748: 153296748
166MECP2NM_004992.3(MECP2): c.538A> T (p.Lys180Ter)single nucleotide variantPathogenicrs267608495GRCh37Chr X, 153296741: 153296741
167MECP2NM_004992.3(MECP2): c.543_544delTC (p.Pro182Argfs)deletionPathogenicrs267608496GRCh37Chr X, 153296735: 153296736
168MECP2NM_004992.3(MECP2): c.554delG (p.Gly185Alafs)deletionPathogenicrs61749707GRCh37Chr X, 153296725: 153296725
169MECP2NM_004992.3(MECP2): c.55C> T (p.Gln19Ter)single nucleotide variantPathogenicrs61754425GRCh37Chr X, 153297980: 153297980
170MECP2NM_004992.3(MECP2): c.566delG (p.Gly189Aspfs)deletionPathogenicrs61749708GRCh37Chr X, 153296713: 153296713
171MECP2NM_004992.3(MECP2): c.566dupG (p.Arg190Thrfs)duplicationPathogenicrs267608499GRCh37Chr X, 153296713: 153296713
172MECP2NM_004992.3(MECP2): c.567dupA (p.Arg190Thrfs)duplicationPathogenicrs61749709GRCh37Chr X, 153296712: 153296712
173MECP2NM_004992.3(MECP2): c.56dupA (p.Leu21Profs)duplicationPathogenicrs267608417GRCh37Chr X, 153297979: 153297979
174MECP2NM_004992.3(MECP2): c.592A> T (p.Arg198Ter)single nucleotide variantPathogenicrs61749717GRCh37Chr X, 153296687: 153296687
175MECP2NM_004992.3(MECP2): c.598A> T (p.Lys200Ter)single nucleotide variantPathogenicrs61749718GRCh37Chr X, 153296681: 153296681
176MECP2NM_004992.3(MECP2): c.601dupG (p.Ala201Glyfs)duplicationPathogenicrs267608503GRCh37Chr X, 153296678: 153296678
177MECP2NM_004992.3(MECP2): c.608_609insA (p.Ser204Valfs)insertionPathogenicrs267608506GRCh37Chr X, 153296670: 153296671
178MECP2NM_001110792.1(MECP2): c.647_648delCAinsAG (p.Ser216Ter)indelPathogenicrs267608507GRCh37Chr X, 153296667: 153296668
179MECP2NM_004992.3(MECP2): c.613G> T (p.Glu205Ter)single nucleotide variantPathogenicrs61749726GRCh37Chr X, 153296666: 153296666
180MECP2NM_004992.3(MECP2): c.617delG (p.Gly206Valfs)deletionPathogenicrs61749727GRCh37Chr X, 153296662: 153296662
181MECP2NM_004992.3(MECP2): c.620dupT (p.Gln208Alafs)duplicationPathogenicrs61749728GRCh37Chr X, 153296659: 153296659
182MECP2NM_004992.3(MECP2): c.622C> T (p.Gln208Ter)single nucleotide variantPathogenicrs61749729GRCh37Chr X, 153296657: 153296657
183MECP2NM_004992.3(MECP2): c.(?_631)_(657_?)del (p.(?))deletionPathogenic
184MECP2NM_001110792.1(MECP2): c.677_689delAGAAAAGTCCTGG (p.Glu226Glyfs)deletionLikely pathogenicrs267608386GRCh37Chr X, 153296626: 153296638
185MECP2NM_004992.3(MECP2): c.64A> T (p.Lys22Ter)single nucleotide variantPathogenicrs62641234GRCh37Chr X, 153297971: 153297971
186MECP2NM_004992.3(MECP2): c.651_652delTG (p.Gly218Glufs)deletionPathogenicrs267608510GRCh37Chr X, 153296627: 153296628
187MECP2NM_004992.3(MECP2): c.654_657delGAAG (p.Lys219Serfs)deletionPathogenicrs61749734GRCh37Chr X, 153296622: 153296625
188MECP2NM_004992.3(MECP2): c.673C> A (p.Pro225Thr)single nucleotide variantPathogenicrs267608513GRCh37Chr X, 153296606: 153296606
189MECP2NM_004992.3(MECP2): c.674C> G (p.Pro225Arg)single nucleotide variantPathogenicrs61749715GRCh37Chr X, 153296605: 153296605
190MECP2NM_004992.3(MECP2): c.676_677insA (p.Phe226Tyrfs)insertionPathogenicrs267608514GRCh37Chr X, 153296602: 153296603
191MECP2NM_004992.3(MECP2): c.677_678insA (p.Phe226Leufs)insertionPathogenicrs61749736GRCh37Chr X, 153296601: 153296602
192MECP2NM_004992.3(MECP2): c.686C> A (p.Ser229Ter)single nucleotide variantPathogenicrs61749739GRCh37Chr X, 153296593: 153296593
193MECP2NM_004992.3(MECP2): c.695delG (p.Gly232Alafs)deletionPathogenicrs63260260GRCh38Chr X, 154031133: 154031133
194MECP2NM_004992.3(MECP2): c.695dupG (p.Lys233Glnfs)duplicationPathogenicrs267608516GRCh37Chr X, 153296584: 153296584
195MECP2NM_004992.3(MECP2): c.696delC (p.Lys233Argfs)deletionPathogenicrs61749741GRCh37Chr X, 153296583: 153296583
196MECP2NM_004992.3(MECP2): c.710dupG (p.Gly238Trpfs)duplicationPathogenicrs267608517GRCh37Chr X, 153296569: 153296569
197MECP2NM_004992.3(MECP2): c.720dupC (p.Thr241Hisfs)duplicationPathogenicrs267608518GRCh37Chr X, 153296559: 153296559
198MECP2NM_004992.3(MECP2): c.734_759del26 (p.Val245Glufs)deletionPathogenicrs267608519GRCh37Chr X, 153296520: 153296545
199MECP2NM_004992.3(MECP2): c.736_737insAT (p.Met246Asnfs)insertionPathogenicrs61749749GRCh37Chr X, 153296542: 153296543
200MECP2NM_001110792.1(MECP2): c.772_779delATGGTGATinsGTG (p.Met258Valfs)indelPathogenicrs267608520GRCh37Chr X, 153296536: 153296543
201MECP2NM_004992.3(MECP2): c.739delG (p.Val247Terfs)deletionPathogenicrs61749750GRCh37Chr X, 153296540: 153296540
202MECP2NM_001110792.1(MECP2): c.783_787dupACGCC (p.Pro263Hisfs)duplicationPathogenicrs61749751GRCh37Chr X, 153296528: 153296532
203MECP2NM_004992.3(MECP2): c.748_749insT (p.Arg250Leufs)insertionPathogenicrs61749752GRCh37Chr X, 153296530: 153296531
204MECP2NM_001110792.1(MECP2): c.784_789delCGCCCCinsGGCCG (p.Arg262Glyfs)indelPathogenicrs61750225GRCh37Chr X, 153296526: 153296531
205MECP2NM_004992.3(MECP2): c.748dupC (p.Arg250Profs)duplicationPathogenicrs61749752GRCh37Chr X, 153296531: 153296531
206MECP2NM_001110792.1(MECP2): c.786delCinsTCAGGAAGCTT (p.Pro263Glnfs)indelPathogenicrs267608521GRCh37Chr X, 153296529: 153296529
207MECP2NM_004992.3(MECP2): c.752_753dupCC (p.Gly252Profs)duplicationPathogenicrs267608522GRCh37Chr X, 153296526: 153296527
208MECP2NM_004992.3(MECP2): c.753delC (p.Gly252Alafs)deletionPathogenicrs61750231GRCh37Chr X, 153296526: 153296526
209MECP2NM_004992.3(MECP2): c.753dupC (p.Gly252Argfs)duplicationPathogenicrs61749751GRCh38Chr X, 154031075: 154031075
210MECP2NM_004992.3(MECP2): c.755delG (p.Gly252Alafs)deletionPathogenicrs61750233GRCh37Chr X, 153296524: 153296524
211MECP2NM_004992.3(MECP2): c.755dupG (p.Arg253Glnfs)duplicationPathogenicrs61750232GRCh37Chr X, 153296524: 153296524
212MECP2NM_004992.3(MECP2): c.756_759delCAGG (p.Arg253Serfs)deletionPathogenicrs267608523GRCh37Chr X, 153296520: 153296523
213MECP2NM_001110792.1(MECP2): c.792_799dupCAGGAAGC (p.Arg267Profs)duplicationPathogenicrs61750235GRCh37Chr X, 153296516: 153296523
214MECP2NM_001110792.1(MECP2): c.802_815dupAAAGCTGAGGCCGA (p.Asp272Glufs)duplicationPathogenicrs267608524GRCh37Chr X, 153296500: 153296513
215MECP2NM_004992.3(MECP2): c.76delC (p.Leu26Serfs)deletionPathogenicrs61754426GRCh37Chr X, 153297959: 153297959
216MECP2NM_004992.3(MECP2): c.784C> T (p.Gln262Ter)single nucleotide variantPathogenicrs267608525GRCh37Chr X, 153296495: 153296495
217MECP2NM_004992.3(MECP2): c.792_793delTC (p.Pro265Glnfs)deletionPathogenicrs267608526GRCh37Chr X, 153296486: 153296487
218MECP2NM_004992.3(MECP2): c.799A> T (p.Lys267Ter)single nucleotide variantPathogenicrs61750238GRCh37Chr X, 153296480: 153296480
219MECP2NM_004992.3(MECP2): c.808delC (p.Arg270Glufs)deletionPathogenicrs62931162GRCh37Chr X, 153296471: 153296471
220MECP2NM_004992.3(MECP2): c.810_813delAAAG (p.Lys271Argfs)deletionPathogenicrs267608529GRCh37Chr X, 153296466: 153296469
221MECP2NM_001110792.1(MECP2): c.848_854delAGCCGGG (p.Lys283Argfs)deletionPathogenicrs61750242GRCh37Chr X, 153296461: 153296467
222MECP2NM_004992.3(MECP2): c.816_832del17 (p.Gly273Argfs)deletionPathogenicrs63749012GRCh37Chr X, 153296447: 153296463
223MECP2NM_004992.3(MECP2): c.830delC (p.Ala277Glufs)deletionPathogenicrs61750247GRCh37Chr X, 153296449: 153296449
224MECP2NM_004992.3(MECP2): c.856_859delAAAG (p.Lys286Profs)deletionPathogenicrs61750256GRCh37Chr X, 153296420: 153296423
225MECP2NM_004992.3(MECP2): c.865A> T (p.Lys289Ter)single nucleotide variantPathogenicrs61750259GRCh37Chr X, 153296414: 153296414
226MECP2NM_004992.3(MECP2): c.865_866delAA (p.Lys289Glyfs)deletionPathogenicrs267608536GRCh37Chr X, 153296413: 153296414
227MECP2NM_004992.3(MECP2): c.869dupA (p.Ser291Valfs)duplicationPathogenicrs267608538GRCh37Chr X, 153296410: 153296410
228MECP2NM_004992.3(MECP2): c.874_875insA (p.Ser292Tyrfs)insertionPathogenicrs61751361GRCh37Chr X, 153296404: 153296405
229MECP2NM_001110792.1(MECP2): c.916_920delCGATC (p.Arg306Cysfs)deletionPathogenicrs61751364GRCh37Chr X, 153296395: 153296399
230MECP2NM_004992.3(MECP2): c.881_902del22 (p.Arg294Profs)deletionPathogenicrs267608540GRCh38Chr X, 154030926: 154030947
231MECP2NM_004992.3(MECP2): c.883delT (p.Ser295Leufs)deletionPathogenicrs267608541GRCh37Chr X, 153296396: 153296396
232MECP2NM_004992.3(MECP2): c.889C> T (p.Gln297Ter)single nucleotide variantPathogenicrs61751367GRCh37Chr X, 153296390: 153296390
233MECP2NM_001110792.1(MECP2): c.934_937delGTAC (p.Val312Serfs)deletionPathogenicrs62701461GRCh37Chr X, 153296378: 153296381
234MECP2NM_001110792.1(MECP2): c.934_940delGTACTCC (p.Val312Profs)deletionPathogenicrs267608543GRCh37Chr X, 153296375: 153296381
235MECP2NM_004992.3(MECP2): c.898delG (p.Val300Tyrfs)deletionPathogenicrs267608544GRCh37Chr X, 153296381: 153296381
236MECP2NM_004992.3(MECP2): c.905C> G (p.Pro302Arg)single nucleotide variantPathogenicrs61749723GRCh37Chr X, 153296374: 153296374
237MECP2NM_004992.3(MECP2): c.906delC (p.Ile303Serfs)deletionPathogenicrs267608548GRCh37Chr X, 153296373: 153296373
238MECP2NM_004992.3(MECP2): c.917G> A (p.Arg306His)single nucleotide variantPathogenicrs61751443GRCh37Chr X, 153296362: 153296362
239MECP2NM_004992.3(MECP2): c.91delG (p.Val31Terfs)deletionPathogenicrs61754427GRCh37Chr X, 153297944: 153297944
240MECP2NM_004992.3(MECP2): c.925C> T (p.Arg309Trp)single nucleotide variantPathogenicrs61751444GRCh37Chr X, 153296354: 153296354
241MECP2NM_004992.3(MECP2): c.964C> G (p.Pro322Ala)single nucleotide variantPathogenicrs61751449GRCh37Chr X, 153296315: 153296315
242MECP2NM_001110792.1(MECP2)indelPathogenicrs672601302GRCh37Chr X, 153296285: 153296290
243MECP2NM_004992.3(MECP2): c.994_998delAGCGG (p.Ser332Glufs)deletionPathogenicrs267608558GRCh37Chr X, 153296281: 153296285
244CDKL5NM_003159.2(CDKL5): c.1311dupC (p.Ser438Glnfs)duplicationPathogenicrs267608623GRCh37Chr X, 18622355: 18622355
245CDKL5NM_003159.2(CDKL5): c.163_166delGAAA (p.Glu55Argfs)deletionPathogenicrs267608433GRCh37Chr X, 18593491: 18593494
246CDKL5NM_003159.2(CDKL5): c.1648C> T (p.Arg550Ter)single nucleotide variantPathogenicrs267608643GRCh37Chr X, 18622692: 18622692
247CDKL5NM_003159.2(CDKL5): c.1675C> T (p.Arg559Ter)single nucleotide variantPathogenicrs267608395GRCh37Chr X, 18622719: 18622719
248CDKL5NM_003159.2(CDKL5): c.1708G> T (p.Glu570Ter)single nucleotide variantPathogenicrs267608644GRCh37Chr X, 18622752: 18622752
249CDKL5NM_003159.2(CDKL5): c.175C> T (p.Arg59Ter)single nucleotide variantPathogenicrs62653623GRCh37Chr X, 18593503: 18593503
250CDKL5NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs)deletionPathogenicrs62643608GRCh37Chr X, 18593511: 18593511
251CDKL5NM_003159.2(CDKL5): c.1892_1893dupTA (p.Gly632Terfs)duplicationPathogenicrs267608646GRCh38Chr X, 18604816: 18604817
252CDKL5NM_003159.2(CDKL5): c.2045_2046delAGins18 (p.?)indelPathogenicrs672601303GRCh37Chr X, 18627031: 18627032
253CDKL5NM_003159.2(CDKL5): c.215T> A (p.Ile72Asn)single nucleotide variantPathogenicrs62641235GRCh37Chr X, 18593543: 18593543
254CDKL5NM_003159.2(CDKL5): c.2343delG (p.Arg781Serfs)deletionPathogenicrs62643614GRCh37Chr X, 18638053: 18638053
255CDKL5NM_003159.2(CDKL5): c.2635_2636delCT (p.Leu879Glufs)deletionPathogenicrs61753251GRCh38Chr X, 18628509: 18628510
256CDKL5NM_003159.2(CDKL5): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs267608453GRCh37Chr X, 18598037: 18598037
257CDKL5NM_003159.2(CDKL5): c.380A> G (p.His127Arg)single nucleotide variantLikely pathogenic, Pathogenicrs267608468GRCh37Chr X, 18598065: 18598065
258CDKL5NM_003159.2(CDKL5): c.532C> T (p.Arg178Trp)single nucleotide variantLikely pathogenic, Pathogenicrs267608493GRCh37Chr X, 18602451: 18602451
259CDKL5NM_003159.2(CDKL5): c.607G> T (p.Glu203Ter)single nucleotide variantPathogenicrs267608505GRCh37Chr X, 18606126: 18606126
260CDKL5NM_003159.2(CDKL5): c.838_847delTTGGACCCAG (p.Asp281Thrfs)deletionPathogenicrs61750250GRCh37Chr X, 18616594: 18616603
261MECP2NM_004992.3(MECP2): c.26+2T> Asingle nucleotide variantPathogenicrs267608409GRCh38Chr X, 154092182: 154092182
262MECP2NM_004992.3(MECP2): c.27-2A> Gsingle nucleotide variantPathogenicrs267608412GRCh38Chr X, 154032559: 154032559
263MECP2NM_004992.3(MECP2): c.27-6C> Gsingle nucleotide variantPathogenicrs267608411GRCh38Chr X, 154032563: 154032563
264MECP2NM_004992.3(MECP2): c.377+1G> Asingle nucleotide variantPathogenicrs267608463GRCh37Chr X, 153297657: 153297657
265MECP2NM_004992.3(MECP2): c.377+1G> Tsingle nucleotide variantPathogenicrs267608463GRCh38Chr X, 154032206: 154032206
266MECP2NM_004992.3(MECP2): c.378-2A> Csingle nucleotide variantPathogenicrs267608464GRCh38Chr X, 154031452: 154031452
267MECP2NM_004992.3(MECP2): c.378-2A> Gsingle nucleotide variantPathogenicrs267608464GRCh38Chr X, 154031452: 154031452
268MECP2NM_004992.3(MECP2): c.378-2A> Tsingle nucleotide variantPathogenicrs267608464GRCh37Chr X, 153296903: 153296903
269MECP2NM_004992.3(MECP2): c.378-3C> Gsingle nucleotide variantPathogenicrs267608465GRCh37Chr X, 153296904: 153296904
270CDKL5NM_003159.2(CDKL5): c.145+2T> Csingle nucleotide variantPathogenicrs267608430GRCh37Chr X, 18582644: 18582644
271CDKL5NM_003159.2(CDKL5): c.2047-1G> Asingle nucleotide variantPathogenicrs267608650GRCh38Chr X, 18609464: 18609464
272CDKL5NM_003159.2(CDKL5): c.463+1G> Asingle nucleotide variantPathogenicrs267608479GRCh37Chr X, 18600071: 18600071
273MECP2NM_004992.3(MECP2): c.1116_1201del86 (p.His372Glnfs)deletionPathogenicGRCh38Chr X, 154030627: 154030712
274CDKL5NM_003159.2(CDKL5): c.211A> G (p.Asn71Asp)single nucleotide variantLikely pathogenic, Pathogenicrs587783072GRCh38Chr X, 18575419: 18575419
275MECP2NM_001110792.1(MECP2): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs587783132GRCh38Chr X, 154097665: 154097665
276MECP2NM_001110792.1(MECP2): c.520A> G (p.Arg174Gly)single nucleotide variantPathogenicrs727505391GRCh37Chr X, 153296795: 153296795
277MECP2NM_004992.3(MECP2): c.573delC (p.Ser194Alafs)deletionLikely pathogenicrs786204307GRCh37Chr X, 153296706: 153296706
278MECP2NM_001110792.1(MECP2): c.738_752delTGAGGGGGGTGGGGC (p.Glu247_Ala251del)deletionLikely pathogenicrs786204309GRCh38Chr X, 154031112: 154031126
279MECP2NM_001110792.1(MECP2): c.790_818del29 (p.Gly264Serfs)deletionLikely pathogenicrs786204310GRCh38Chr X, 154031046: 154031074
280MECP2NM_001110792.1(MECP2): c.853_871dup19 (p.Ala291Glyfs)duplicationLikely pathogenicrs786204311GRCh38Chr X, 154030993: 154031011
281MECP2NM_001110792.1(MECP2): c.1289_1492del204 (p.Met430_Val497del)deletionPathogenicGRCh38Chr X, 154030372: 154030575
282MECP2NM_004992.3(MECP2): c.1410_1411delCA (p.Asn470Lysfs)deletionLikely pathogenicrs786204316GRCh37Chr X, 153295868: 153295869
283MECP2NM_001110792.1(MECP2): c.863_*44del679deletionLikely pathogenicGRCh38Chr X, 154030323: 154031001
284CDKL5NM_003159.2(CDKL5): c.656A> C (p.Gln219Pro)single nucleotide variantLikely pathogenicrs786204963GRCh37Chr X, 18606175: 18606175
285CDKL5NM_003159.2(CDKL5): c.1090G> T (p.Glu364Ter)single nucleotide variantPathogenicrs786204966GRCh37Chr X, 18622134: 18622134
286CDKL5NM_003159.2(CDKL5): c.1341delC (p.Phe447Leufs)deletionPathogenicrs786204968GRCh38Chr X, 18604265: 18604265
287CDKL5NM_003159.2(CDKL5): c.1375C> T (p.Gln459Ter)single nucleotide variantPathogenicrs786204969GRCh37Chr X, 18622419: 18622419
288CDKL5NM_003159.2(CDKL5): c.1417dupA (p.Ile473Asnfs)duplicationPathogenicrs786204970GRCh38Chr X, 18604341: 18604341
289CDKL5NM_003159.2(CDKL5): c.1550delT (p.Phe517Serfs)deletionPathogenicrs786204972GRCh38Chr X, 18604474: 18604474
290CDKL5NM_003159.2(CDKL5): c.-162-?_99+?deldeletionPathogenic
291CDKL5NM_003159.2(CDKL5): c.1854delC (p.Asp618Glufs)deletionPathogenicrs786204975GRCh37Chr X, 18622898: 18622898
292CDKL5NM_003159.2(CDKL5): c.2046+1G> Asingle nucleotide variantPathogenicrs786204976GRCh37Chr X, 18627033: 18627033
293CDKL5NM_003159.2(CDKL5): c.(?_-253)_-162-27968deldeletionPathogenicGRCh37Chr X, 18443725: 18497087
294CDKL5NM_003159.2(CDKL5): c.-253_64+?deldeletionPathogenicGRCh37Chr X, 18443725: 18525280
295CDKL5NM_003159.2(CDKL5): c.-253_99+?deldeletionPathogenicGRCh37Chr X, 18443725: 18528974
296CDKL5NM_003159.2(CDKL5): c.2704C> T (p.Gln902Ter)single nucleotide variantPathogenicrs786204981GRCh37Chr X, 18646698: 18646698
297CDKL5NM_003159.2(CDKL5): c.283-3_290del11deletionPathogenicrs786204983GRCh38Chr X, 18579845: 18579855
298CDKL5NM_003159.2(CDKL5): c.403+1G> Asingle nucleotide variantPathogenicrs786204984GRCh38Chr X, 18579969: 18579969
299CDKL5NM_003159.2(CDKL5): c.404-?_554+?deldeletionPathogenic
300CDKL5NM_003159.2(CDKL5): c.464-1G> Asingle nucleotide variantPathogenicrs786204986GRCh38Chr X, 18584262: 18584262
301CDKL5NM_003159.2(CDKL5): c.510_511dupGT (p.Tyr171Cysfs)duplicationPathogenicrs786204988GRCh38Chr X, 18584309: 18584310
302CDKL5NM_003159.2(CDKL5): c.528G> T (p.Trp176Cys)single nucleotide variantPathogenicrs786204989GRCh38Chr X, 18584327: 18584327
303CDKL5NM_003159.2(CDKL5): c.660_664dupTTTTA (p.Thr222Ilefs)duplicationPathogenicrs786204990GRCh38Chr X, 18588059: 18588063
304CDKL5NM_003159.2(CDKL5): c.942delA (p.Lys314Asnfs)deletionPathogenicrs786204992GRCh38Chr X, 18598578: 18598578
305MECP2NM_004992.3(MECP2): c.(?_1169)_*(1_?)deldeletionPathogenicGRCh37Chr X, 153295817: 153296110
306MECP2NM_004992.3(MECP2): c.1012_1193del182 (p.Thr338Profs)deletionPathogenicGRCh37Chr X, 153296086: 153296267
307MECP2NM_004992.3(MECP2): c.1012_1202del191 (p.Thr338Profs)deletionPathogenicGRCh38Chr X, 154030626: 154030816
308MECP2NM_004992.3(MECP2): c.(?_1017)_(1397_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295882: 153296262
309NC_000023.10: g.153281346_153296256del14911deletionPathogenicGRCh37Chr X, 153281346: 153296256
310MECP2NM_001110792.1(MECP2): c.1064_1194del131 (p.Gly355Alafs)deletionPathogenicGRCh38Chr X, 154030670: 154030800
311MECP2NM_004992.3(MECP2): c.1030_1195del166insGT (p.Arg344Valfs)indelPathogenicGRCh37Chr X, 153296084: 153296249
312MECP2NM_004992.3(MECP2): c.1039_1195del157insGT (p.Lys347Valfs)indelPathogenicGRCh37Chr X, 153296084: 153296240
313MECP2NM_004992.3(MECP2): c.(?_1044)_(1442_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295837: 153296235
314MECP2NM_004992.3(MECP2): c.1046_1206del161 (p.Ser349Thrfs)deletionPathogenicGRCh38Chr X, 154030622: 154030782
315MECP2NM_001110792.1(MECP2): c.1084_1235del152 (p.Ser362Glnfs)deletionPathogenicGRCh38Chr X, 154030629: 154030780
316MECP2NM_004992.3(MECP2): c.1052_1200del149 (p.Pro351Glnfs)deletionPathogenicGRCh38Chr X, 154030628: 154030776
317MECP2NM_004992.3(MECP2): c.1057_1219del163 (p.Gly353Thrfs)deletionPathogenicGRCh37Chr X, 153296060: 153296222
318MECP2NM_004992.3(MECP2): c.1078_*2524del2908deletionPathogenicGRCh37Chr X, 153293294: 153296201
319MECP2NM_004992.3(MECP2): c.1096_1201del106 (p.His366Alafs)deletionPathogenicGRCh37Chr X, 153296078: 153296183
320MECP2NM_004992.3(MECP2): c.1097_*13del378deletionPathogenicGRCh37Chr X, 153295805: 153296182
321MECP2NM_004992.3(MECP2): c.1097_1203del107 (p.His366Profs)deletionPathogenicGRCh38Chr X, 154030625: 154030731
322MECP2NM_004992.3(MECP2): c.1101_1201del101 (p.His367Glnfs)deletionPathogenicGRCh37Chr X, 153296078: 153296178
323MECP2NM_004992.3(MECP2): c.1101_(1396_?)del (p.His(368_?)Alafs)deletionPathogenicGRCh38Chr X, 154030432: 154030727
324MECP2NM_004992.3(MECP2): c.1105_1225del121 (p.His369Alafs)deletionPathogenicGRCh37Chr X, 153296054: 153296174
325MECP2NM_004992.3(MECP2): c.1115_1326del212 (p.His372Argfs)deletionPathogenicGRCh37Chr X, 153295953: 153296164
326MECP2NM_004992.3(MECP2): c.1121_1191del71 (p.Glu374Glyfs)deletionPathogenicGRCh37Chr X, 153296088: 153296158
327MECP2NM_004992.3(MECP2): c.1123_1202del80 (p.Ser375Profs)deletionPathogenicGRCh38Chr X, 154030626: 154030705
328MECP2NM_004992.3(MECP2): c.1127_1179del53 (p.Pro376Argfs)deletionPathogenicGRCh38Chr X, 154030649: 154030701
329MECP2NM_001110792.1(MECP2): c.1165_*568delinsCCGTGGindelPathogenicGRCh37Chr X, 153295250: 153296150
330MECP2NM_004992.3(MECP2): c.1132_1202del71 (p.Ala378Profs)deletionPathogenicGRCh37Chr X, 153296077: 153296147
331MECP2NM_004992.3(MECP2): c.1142_1227del86 (p.Pro381Glnfs)deletionPathogenicGRCh37Chr X, 153296052: 153296137
332MECP2NM_001110792.1(MECP2): c.1188_*29del339deletionPathogenicGRCh37Chr X, 153295789: 153296127
333MECP2NM_004992.3(MECP2): c.1157_*944del1249deletionPathogenicGRCh37Chr X, 153294874: 153296122
334MECP2NM_004992.3(MECP2): c.1159_1458del300 (p.Pro387_Ser486del)deletionPathogenicGRCh37Chr X, 153295821: 153296120
335MECP2NM_004992.3(MECP2): c.1163_*39del338deletionPathogenicGRCh37Chr X, 153295779: 153296116
336MECP2NM_001110792.1(MECP2)indelPathogenicrs786205019GRCh38Chr X, 154030644: 154030664
337MECP2NM_004992.3(MECP2): c.1164_1194del31 (p.Pro391Alafs)deletionPathogenicrs786205020GRCh37Chr X, 153296085: 153296115
338MECP2NM_004992.3(MECP2): c.(?_1169)_(1397_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295882: 153296110
339MECP2NM_004992.3(MECP2): c.1180_1181insT (p.Glu394Valfs)insertionPathogenicrs786205021GRCh37Chr X, 153296098: 153296099
340MECP2NM_004992.3(MECP2): c.1196_1266del71 (p.Pro399Leufs)deletionPathogenicGRCh38Chr X, 154030562: 154030632
341MECP2NM_004992.3(MECP2): c.1276_*113del299ins3indelPathogenicGRCh38Chr X, 154030254: 154030552
342MECP2NM_004992.3(MECP2): c.(?_1336)_*(1_?)deldeletionPathogenicGRCh37Chr X, 153295817: 153295943
343MECP2NM_001110792.1(MECP2): c.1444_1447delAACAinsTG (p.Asn482Trpfs)indelPathogenicrs786205023GRCh38Chr X, 154030417: 154030420
344MECP2NM_004992.3: c.(?_184)_(1065_?)deldeletionPathogenic
345MECP2NM_004992.3(MECP2): c.(?_-226)_(*1_?)deldeletionPathogenic
346MECP2NM_004992.3(MECP2): c.(?_-226)_26+?deldeletionPathogenicGRCh37Chr X, 153357642: 153363188
347MECP2NM_004992.3(MECP2): c.(?_248)_(320_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153297715: 153297787
348NC_000023.10indelPathogenicGRCh37Chr X, 153281940: 153332471
349MECP2NM_004992.3: c.(?_27)_(378_1461)deldeletionPathogenic
350MECP2NM_004992.3: c.(?_27)_(*1_?)deldeletionPathogenic
351MECP2NM_004992.3: c.(?_27)_(*8554_?)deldeletionPathogenic
352MECP2NM_004992.3: c.(?_27)_(1018_?)deldeletionPathogenic
353MECP2NM_004992.3: c.(?_27)_(1021_?)deldeletionPathogenic
354MECP2NM_004992.3: c.(?_27)_(1029_?)deldeletionPathogenic
355MECP2NM_004992.3: c.(?_27)_(1170_?)deldeletionPathogenic
356MECP2NM_004992.3: c.(?_27)_(1185_?)deldeletionPathogenic
357MECP2NM_004992.3: c.(?_27)_(1337_?)deldeletionPathogenic
358MECP2NM_004992.3: c.(?_27)_(1397_?)deldeletionPathogenic
359MECP2NM_004992.3(MECP2): c.(?_27)_(367_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153297668: 153298008
360MECP2NM_004992.3: c.(?_27)_(378_?)deldeletionPathogenic
361MECP2NM_004992.3(MECP2): c.27-12521_*5072deldeletionPathogenicGRCh37Chr X, 153290746: 153310529
362MECP2NM_004992.3(MECP2): c.27-3928_1184deldeletionPathogenicGRCh37Chr X, 153296095: 153301936
363MECP2NM_004992.3(MECP2): c.27-4722_*112delinsCACTTTGTGindelPathogenicGRCh37Chr X, 153295706: 153302730
364MECP2NM_004992.3(MECP2): c.27-4722_*739delins43indelPathogenicGRCh37Chr X, 153295079: 153302730
365MECP2NM_004992.3(MECP2): c.27-5774_902delinsGTGCCCGGACTGATGTCAindelPathogenicGRCh37Chr X, 153296377: 153303782
366MECP2NM_004992.3(MECP2): c.27-6026_1190delinsGTindelPathogenicGRCh37Chr X, 153296089: 153304034
367MECP2NM_004992.3(MECP2): c.27-6215_1190deldeletionPathogenicGRCh38Chr X, 154030638: 154038772
368MECP2NM_004992.3(MECP2): c.27-96_1205deldeletionPathogenicGRCh37Chr X, 153296074: 153298104
369MECP2NM_001110792.1(MECP2): c.354_357dupGAAG (p.Leu120Glufs)duplicationPathogenicrs786205025GRCh38Chr X, 154032263: 154032266
370MECP2NM_004992.3: c.343_1182deldeletionPathogenic
371MECP2NM_004992.3(MECP2): c.(?_378)_*(1_?)deldeletionPathogenicGRCh37Chr X, 153295817: 153296901
372MECP2NM_004992.3(MECP2): c.(?_378)_(1170_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153296109: 153296901
373MECP2NM_004992.3(MECP2): c.(?_378)_(1185_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153296094: 153296901
374MECP2NM_004992.3(MECP2): c.(?_378)_(1337_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153295942: 153296901
375MECP2NM_001110792.1(MECP2): c.414_1497del1084 (p.Pro139Phefs)deletionPathogenicGRCh37Chr X, 153295818: 153296901
376MECP2NM_004992.3(MECP2): c.382_1189del808 (p.Gln128Argfs)deletionPathogenicGRCh37Chr X, 153296090: 153296897
377MECP2NM_001110792.1(MECP2): c.445_1194del750 (p.Glu149_Leu398del)deletionPathogenicGRCh37Chr X, 153296121: 153296870
378MECP2NM_004992.3(MECP2): c.481_987del507ins8indelPathogenicGRCh37Chr X, 153296292: 153296798
379MECP2NM_004992.3(MECP2): c.488_1189del702 (p.Gly163_Ser396del)deletionPathogenicGRCh37Chr X, 153296090: 153296791
380MECP2NM_004992.3(MECP2): c.502C> A (p.Arg168=)single nucleotide variantPathogenicrs61748421GRCh38Chr X, 154031326: 154031326
381MECP2NM_004992.3(MECP2): c.616_1122del507 (p.Gly206_Glu374del)deletionPathogenicGRCh38Chr X, 154030706: 154031212
382MECP2NM_004992.3(MECP2): c.689_756del68 (p.Pro230Glnfs)deletionPathogenicGRCh37Chr X, 153296523: 153296590
383MECP2NM_004992.3(MECP2): c.711_1269del559 (p.Gly238Trpfs)deletionPathogenicGRCh38Chr X, 154030559: 154031117
384MECP2NM_004992.3(MECP2): c.731_1166del436 (p.Gln244Leufs)deletionPathogenicGRCh37Chr X, 153296113: 153296548
385MECP2NM_004992.3(MECP2): c.763_1383del621ins15 (p.?)indelPathogenicGRCh37Chr X, 153295896: 153296516
386MECP2NM_004992.3(MECP2): c.766A> T (p.Lys256Ter)single nucleotide variantPathogenicrs786205027GRCh37Chr X, 153296513: 153296513
387MECP2NM_004992.3(MECP2): c.767_1175del409 (p.Lys256Serfs)deletionPathogenicGRCh38Chr X, 154030653: 154031061
388MECP2NM_004992.3(MECP2): c.785_818del34 (p.Gln262Argfs)deletionPathogenicrs786205028GRCh38Chr X, 154031010: 154031043
389MECP2NM_004992.3(MECP2): c.820_1153del334ins67 (p.?)indelPathogenicGRCh37Chr X, 153296126: 153296459
390MECP2NM_004992.3(MECP2): c.822_1184del363 (p.Val275_Ser395del)deletionPathogenicGRCh37Chr X, 153296095: 153296457
391MECP2NM_004992.3(MECP2): c.830_831ins23 (p.?)insertionPathogenicrs786205029GRCh37Chr X, 153296448: 153296449
392MECP2NM_004992.3(MECP2): c.834_939del106 (p.Ala279Serfs)deletionPathogenicGRCh38Chr X, 154030889: 154030994
393MECP2NM_004992.3(MECP2): c.849_1236del388 (p.Lys284Alafs)deletionPathogenicGRCh38Chr X, 154030592: 154030979
394MECP2NM_004992.3(MECP2): c.851_1188del338 (p.Lys284Argfs)deletionPathogenicGRCh38Chr X, 154030640: 154030977
395MECP2NM_004992.3(MECP2): c.855_859delGAAAGinsAAAAAAAAGACT (p.Ala287Lysfs)indelPathogenicrs786205030GRCh38Chr X, 154030969: 154030973
396MECP2NM_001110792.1(MECP2): c.903_1259del357insA (p.Ser303Glnfs)indelPathogenicGRCh38Chr X, 154030605: 154030961
397MECP2NM_001110792.1(MECP2): c.905_916delAGTCTTCTATCCinsCACA (p.Glu302Alafs)indelPathogenicrs786205031GRCh37Chr X, 153296399: 153296410
398MECP2NM_001110792.1(MECP2): c.907_1080del174 (p.Ile305_Ser362del)deletionPathogenicGRCh37Chr X, 153296235: 153296408
399MECP2NM_004992.3(MECP2): c.894_1095del202 (p.Glu298Aspfs)deletionPathogenicGRCh37Chr X, 153296184: 153296385
400MECP2NM_004992.3(MECP2): c.898_1099del202 (p.Val300Thrfs)deletionPathogenicGRCh38Chr X, 154030729: 154030930
401MECP2NM_001110792.1(MECP2): c.942_1174del233insAC (p.Ile315_Val392delinsLeu)indelPathogenicGRCh37Chr X, 153296141: 153296373
402MECP2NM_004992.3(MECP2): c.914_1172del259 (p.Lys305Metfs)deletionPathogenicGRCh37Chr X, 153296107: 153296365
403MECP2NM_004992.3(MECP2): c.943_1140del198ins6indelPathogenicGRCh38Chr X, 154030688: 154030885
404MECP2NM_001110792.1(MECP2): c.998_1303del306insG (p.Lys333Serfs)indelPathogenicGRCh38Chr X, 154030561: 154030866
405MECP2NM_004992.3(MECP2): c.-98-?_377+?deldeletionPathogenic
406MECP2NM_004992.3(MECP2): c.994_1346del353 (p.Ser332Valfs)deletionPathogenicGRCh37Chr X, 153295933: 153296285
407MECP2NM_001110792.1(MECP2): c.23_27dupCGCCG (p.Ser10Argfs)duplicationPathogenicrs786205038GRCh38Chr X, 154097639: 154097643
408MECP2NM_001110792.1(MECP2): c.30delCinsGA (p.Ser10Argfs)indelPathogenicrs786205040GRCh38Chr X, 154097636: 154097636
409MECP2NM_001110792.1(MECP2): c.47_57delGCGAGGAGGAG (p.Gly16Glufs)deletionPathogenicrs786205042GRCh38Chr X, 154097609: 154097619
410MECP2NM_001110792.1(MECP2): c.48_55delCGAGGAGG (p.Glu18Thrfs)deletionPathogenicrs786205043GRCh38Chr X, 154097611: 154097618
411MECP2NM_001110792.1(MECP2): c.48_55dupCGAGGAGG (p.Glu19Alafs)duplicationPathogenicrs786205044GRCh37Chr X, 153363068: 153363075
412MECP2NM_001110792.1(MECP2): c.48C> T (p.Gly16=)single nucleotide variantPathogenicrs786205045GRCh38Chr X, 154097618: 154097618
413MECP2NM_001110792.1(MECP2): c.59_60delGA (p.Arg20Thrfs)deletionPathogenicrs786205047GRCh37Chr X, 153363063: 153363064
414MECP2NM_001110792.1(MECP2): c.62+2_62+3delTGdeletionPathogenicrs786205049GRCh37Chr X, 153363058: 153363059
415MECP2NM_001110792.1(MECP2): c.(?_1)_(62_?)del (p.(?))deletionPathogenicGRCh37Chr X, 153363061: 153363122
416MECP2NM_004992.3(MECP2): c.1A> T (p.Met1Leu)single nucleotide variantPathogenicrs786205892GRCh37Chr X, 153357667: 153357667
417MECP2NM_004992.3(MECP2)indelPathogenicGRCh37Chr X, 153295996: 153296116
418MECP2NM_004992.3(MECP2): c.1146_*452del768deletionPathogenicGRCh37Chr X, 153295366: 153296133
419MECP2NM_004992.3(MECP2): c.390delA (p.Ala131Profs)deletionPathogenicrs786205895GRCh37Chr X, 153296889: 153296889
420MECP2NM_001110792.1(MECP2): c.1202dupC (p.Pro402Serfs)duplicationPathogenicrs797044733GRCh37Chr X, 153296113: 153296113
421MECP2NM_001110792.1(MECP2): c.1043_1230del188 (p.Leu348Profs)deletionPathogenicGRCh37Chr X, 153296085: 153296272
422MECP2NM_001110792.1(MECP2): c.1193_*116del421deletionPathogenicGRCh37Chr X, 153295702: 153296122
423MECP2NM_001110792.1(MECP2): c.30_31delCG (p.Ser10Argfs)deletionPathogenicrs797045693GRCh38Chr X, 154097635: 154097636
424MECP2NM_001110792.1(MECP2): c.83_93delAGGACCTCCAG (p.Gln28Argfs)deletionPathogenicrs797045694GRCh38Chr X, 154032527: 154032537
425MECP2NM_001110792.1(MECP2): c.701_707dupTCAAGAT (p.Met236Ilefs)duplicationPathogenicrs797045695GRCh37Chr X, 153296608: 153296614
426MECP2NM_001110792.1(MECP2): c.934_1202del269 (p.Val312Serfs)deletionPathogenicGRCh37Chr X, 153296113: 153296381
427MECP2NM_001110792.1: c.384_1164deldeletionPathogenic
428MECP2NM_004992.3(MECP2): c.1151C> T (p.Pro384Leu)single nucleotide variantLikely pathogenicrs193922676GRCh37Chr X, 153296128: 153296128
429MECP2NM_004992.3(MECP2): c.1327G> A (p.Ala443Thr)single nucleotide variantLikely pathogenicrs193922677GRCh37Chr X, 153295952: 153295952
430MECP2NM_004992.3(MECP2): c.574A> T (p.Lys192Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922679GRCh37Chr X, 153296705: 153296705
431MECP2NM_004992.3(MECP2): c.468C> G (p.Asp156Glu)single nucleotide variantPathogenicrs61748408GRCh37Chr X, 153296811: 153296811
432MECP2NM_004992.3(MECP2): c.611C> G (p.Ser204Ter)single nucleotide variantPathogenicrs61749724GRCh37Chr X, 153296668: 153296668
433MECP2NM_004992.3(MECP2): c.730C> T (p.Gln244Ter)single nucleotide variantPathogenicrs61749747GRCh37Chr X, 153296549: 153296549
434MECP2NM_004992.3(MECP2): c.806delG (p.Gly269Alafs)deletionPathogenicrs61750241GRCh37Chr X, 153296473: 153296473

Expression for genes affiliated with Rett Syndrome

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LifeMap Discovery
Genes differentially expressed in tissues of Rett Syndrome patients vs. healthy controls: 32 (show all 47)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1EPHB2EPH receptor B2Brain+6.860.000
2SLC9A3R1solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1Brain+5.980.000
3CARTPTCART prepropeptideBrain-5.940.000
4GLRA2glycine receptor, alpha 2Brain+5.440.000
5APOC4apolipoprotein C-IVBrain-5.140.039
6FLOT2flotillin 2Brain+5.090.017
7GRIN2Cglutamate receptor, ionotropic, N-methyl D-aspartate 2CBrain+5.020.012
8ACVR2Bactivin A receptor, type IIBBrain+4.940.000
9ASMTacetylserotonin O-methyltransferaseBrain+4.780.000
10DCTN5dynactin 5 (p25)Brain+4.720.000
11F2RL1coagulation factor II (thrombin) receptor-like 1Brain-4.690.004
12INHBBinhibin, beta BBrain+4.590.028
13FOLR1folate receptor 1 (adult)Brain-4.590.006
14NPRL3NPR3-like, GATOR1 complex subunitBrain+4.450.044
15CCDC106coiled-coil domain containing 106Brain-4.430.047
16S100A1S100 calcium binding protein A1Brain+4.300.045
17CCScopper chaperone for superoxide dismutaseBrain+4.290.027
18MKL1megakaryoblastic leukemia (translocation) 1Brain+4.190.012
19ASB4ankyrin repeat and SOCS box containing 4Brain+4.150.012
20CHRNB2cholinergic receptor, nicotinic, beta 2 (neuronal)Brain+4.080.049
21SOX11SRY (sex determining region Y)-box 11Brain+3.980.000
22KIFC3kinesin family member C3Brain+3.910.017
23APBA3amyloid beta (A4) precursor protein-binding, family A, member 3Brain-3.870.012
24CCHCR1coiled-coil alpha-helical rod protein 1Brain+3.830.026
25ITGA9integrin, alpha 9Brain+3.820.036
26MYL5myosin, light chain 5, regulatoryBrain+3.740.000
27KCNMA1potassium channel, calcium activated large conductance subfamily M alpha, member 1Brain+3.690.028
28SFTPBsurfactant protein BBrain-3.480.003
29XPNPEP1X-prolyl aminopeptidase (aminopeptidase P) 1, solubleBrain+3.480.044
30HNRNPFheterogeneous nuclear ribonucleoprotein FBrain+3.470.010
31PPP1R3Cprotein phosphatase 1, regulatory subunit 3CBrain+3.450.008
32TBX1T-box 1Brain+3.410.008
33MYCLv-myc avian myelocytomatosis viral oncogene lung carcinoma derived homologBrain+3.390.007
34TRADDTNFRSF1A-associated via death domainBrain+3.360.010
35NFATC1nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1Brain-3.330.019
36PANX1pannexin 1Brain+3.300.019
37ENOSF1enolase superfamily member 1Brain+3.290.024
38MT4metallothionein 4Brain-3.200.001
39FEZ2fasciculation and elongation protein zeta 2 (zygin II)Brain+3.170.001
40IFNA5interferon, alpha 5Brain+3.160.006
41CEP57centrosomal protein 57kDaBrain+3.130.029
42ZG16zymogen granule protein 16Brain+3.120.045
43ADAM10ADAM metallopeptidase domain 10Brain+3.090.039
44ATP7BATPase, Cu++ transporting, beta polypeptideBrain+3.090.046
45ESR1estrogen receptor 1Brain+3.070.017
46ZKSCAN8zinc finger with KRAB and SCAN domains 8Brain-3.070.006
47EGFRepidermal growth factor receptorBrain+3.030.030

Search GEO for disease gene expression data for Rett Syndrome.

Pathways for genes affiliated with Rett Syndrome

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GO Terms for genes affiliated with Rett Syndrome

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Biological processes related to Rett Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anatomical structure formation involved in morphogenesisGO:004864610.2DLX5, DLX6
2neurotransmitter secretionGO:000726910.2CHAT, STXBP1, SYN1
3nervous system developmentGO:00073999.5BDNF, DLX5, DLX6, GPM6B

Sources for Rett Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet