MCID: CHN016
MIFTS: 50

Cohen Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Cohen Syndrome

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Aliases & Descriptions for Cohen Syndrome:

Name: Cohen Syndrome 49 11 21 45 22 23 47 67 24
Pepper Syndrome 45 23 67
Coh1 45 67
Prominent Incisors-Obesity-Hypotonia Syndrome 23
Hypotonia, Obesity, and Prominent Incisors 23
 
Hypotonia-Obesity-Prominent Incisors 67
Obesity-Hypotonia Syndrome 23
Stage 4s Neuroblastoma 65
Norio Syndrome 23
Chs1 67

Characteristics:

HPO:

61
cohen syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 216550
MedGen34 C0265223
UMLS65 C1135161

Summaries for Cohen Syndrome

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NIH Rare Diseases:45 Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by dr. m.m. cohen, jr. when the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. since cohen syndrome was first described, over 100 cases have been reported worldwide. it is now known that the signs and symptoms present in people with cohen syndrome may vary considerably. although the exact cause of cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called coh1 (also referred to as vps13b). when cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. no cure is currently available; however, treatment for cohen syndrome is focused on improving or alleviating signs and symptoms as they arise. last updated: 3/21/2013

MalaCards based summary: Cohen Syndrome, also known as pepper syndrome, is related to camera marugo cohen syndrome and salt and pepper syndrome, and has symptoms including cognitive impairment, hypoplasia of the zygomatic bone and long toe. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B (Yeast)). Affiliated tissues include eye, bone and kidney.

Genetics Home Reference:23 Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. Characteristic facial features include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open-mouth appearance.

OMIM:49 Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial... (216550) more...

UniProtKB/Swiss-Prot:67 Cohen syndrome: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.

Wikipedia:68 Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William... more...

GeneReviews summary for NBK1482

Related Diseases for Cohen Syndrome

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



Diseases related to cohen syndrome

Symptoms for Cohen Syndrome

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Symptoms by clinical synopsis from OMIM:

216550

Clinical features from OMIM:

216550

HPO human phenotypes related to Cohen Syndrome:

(show all 96)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
3 long toe hallmark (90%) HP:0010511
4 aplasia/hypoplasia of the tongue hallmark (90%) HP:0010295
5 reduced number of teeth hallmark (90%) HP:0009804
6 neurological speech impairment hallmark (90%) HP:0002167
7 abnormality of neutrophils hallmark (90%) HP:0001874
8 sandal gap hallmark (90%) HP:0001852
9 muscular hypotonia hallmark (90%) HP:0001252
10 tapered finger hallmark (90%) HP:0001182
11 arachnodactyly hallmark (90%) HP:0001166
12 thick eyebrow hallmark (90%) HP:0000574
13 myopia hallmark (90%) HP:0000545
14 chorioretinal abnormality hallmark (90%) HP:0000532
15 abnormality of the eyelashes hallmark (90%) HP:0000499
16 downslanted palpebral fissures hallmark (90%) HP:0000494
17 prominent nasal bridge hallmark (90%) HP:0000426
18 micrognathia hallmark (90%) HP:0000347
19 short philtrum hallmark (90%) HP:0000322
20 low anterior hairline hallmark (90%) HP:0000294
21 microcephaly hallmark (90%) HP:0000252
22 gingival overgrowth hallmark (90%) HP:0000212
23 open mouth hallmark (90%) HP:0000194
24 abnormality of the palate hallmark (90%) HP:0000174
25 finger syndactyly typical (50%) HP:0006101
26 short stature typical (50%) HP:0004322
27 clinodactyly of the 5th finger typical (50%) HP:0004209
28 cubitus valgus typical (50%) HP:0002967
29 genu valgum typical (50%) HP:0002857
30 coarse hair typical (50%) HP:0002208
31 abnormality of the voice typical (50%) HP:0001608
32 macrodontia typical (50%) HP:0001572
33 prenatal movement abnormality typical (50%) HP:0001557
34 obesity typical (50%) HP:0001513
35 intrauterine growth retardation typical (50%) HP:0001511
36 joint hypermobility typical (50%) HP:0001382
37 aplasia/hypoplasia of the earlobes occasional (7.5%) HP:0009906
38 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
39 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
40 abnormality of the hip bone occasional (7.5%) HP:0003272
41 kyphosis occasional (7.5%) HP:0002808
42 abnormality of the mitral valve occasional (7.5%) HP:0001633
43 ventricular septal defect occasional (7.5%) HP:0001629
44 seizures occasional (7.5%) HP:0001250
45 pectus excavatum occasional (7.5%) HP:0000767
46 optic atrophy occasional (7.5%) HP:0000648
47 nystagmus occasional (7.5%) HP:0000639
48 iris coloboma occasional (7.5%) HP:0000612
49 strabismus occasional (7.5%) HP:0000486
50 sensorineural hearing impairment occasional (7.5%) HP:0000407
51 preauricular skin tag occasional (7.5%) HP:0000384
52 cryptorchidism occasional (7.5%) HP:0000028
53 short metatarsal HP:0010743
54 short metacarpal HP:0010049
55 childhood-onset truncal obesity HP:0008915
56 feeding difficulties in infancy HP:0008872
57 reduced visual acuity HP:0007663
58 thick corpus callosum HP:0007074
59 short stature HP:0004322
60 narrow palm HP:0004283
61 cubitus valgus HP:0002967
62 thoracic scoliosis HP:0002943
63 lumbar hyperlordosis HP:0002938
64 genu valgum HP:0002857
65 high, narrow palate HP:0002705
66 leukopenia HP:0001882
67 neutropenia HP:0001875
68 pes planus HP:0001763
69 mitral valve prolapse HP:0001634
70 laryngomalacia HP:0001601
71 small for gestational age HP:0001518
72 joint hypermobility HP:0001382
73 cerebellar hypoplasia HP:0001321
74 neonatal hypotonia HP:0001319
75 motor delay HP:0001270
76 seizures HP:0001250
77 intellectual disability HP:0001249
78 tapered finger HP:0001182
79 chorioretinal dystrophy HP:0001135
80 single transverse palmar crease HP:0000954
81 growth hormone deficiency HP:0000824
82 delayed puberty HP:0000823
83 macrodontia of permanent maxillary central incisor HP:0000675
84 optic atrophy HP:0000648
85 thick eyebrow HP:0000574
86 myopia HP:0000545
87 visual impairment HP:0000505
88 downslanted palpebral fissures HP:0000494
89 convex nasal ridge HP:0000444
90 prominent nasal bridge HP:0000426
91 micrognathia HP:0000347
92 hypoplasia of the maxilla HP:0000327
93 short philtrum HP:0000322
94 facial hypotonia HP:0000297
95 microcephaly HP:0000252
96 open mouth HP:0000194

Drugs & Therapeutics for Cohen Syndrome

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

(show top 50)    (show all 274)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Efavirenzapproved, investigationalPhase 4, Phase 3398154598-52-464139
Synonyms:
(-)-6-CHLORO-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-2H-3,1-benzoxazin-2-one
(-)-Efavirenz
(4S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(4S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(4S)-6-chloro-4-(2-cyclopropylethynyl)-4-(trifluoromethyl)-1H-3,1-benzoxazin-2-one
(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-(2-cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-ben
(S)-6-Chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-Chloro-4-cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[d][1,3]oxazin-2-one
(S)-6-chloro-4-(Cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-2H-3,1-benzoxazin-2-one
(S)-6-chloro-4-Cyclopropylethynyl-4-trifluoromethyl-1,4-dihydro-benzo[D][1,3]oxazin-2-one
154598-52-4
1ikv
1ikw
2H-3,1-Benzoxazin-2-one, 6-chloro-4-(cyclopropylethynyl)-1,4-dihydro-4-(trifluoromethyl)-, (4S)- (9
6-chloro-4-(2-Cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[D][1,3]oxazin-2-one
6-chloro-4-(2-cyclopropyl-1-ethynyl)-4-trifluoromethyl-(4S)-1,4-dihydro-2H-benzo[d][1,3]oxazin-2-one
AC-19049
AC1L20IX
BIDD:GT0383
C08088
C14H9ClF3NO2
CHEBI:119486
CHEMBL223228
CID64139
CPD000466351
D00896
DB00625
DB07709
DMP 266
DMP-266
EFV
 
EFZ
Efavirenz
Efavirenz (JAN/INN)
Efavirenzum
Eravirenz
HMS2051J08
HMS2090N16
HSDB 7163
L 743726
L-741211
L-743,726
L-743725
L-743726
LS-173464
MLS000759465
MLS001424087
Met-SDF-1.beta. & Efavirenz
Met-Stromal Cell-derived Factor-1.beta. (Human) & Efavirenz
MolPort-003-983-924
NSC742403
SAM001246667
SBB066062
SMR000466351
Stocrin
Strocin (TM)
Sustiva
Sustiva (TM)
Sustiva (TN)
UNII-JE6H2O27P8
ZINC02020233
efavirenz
efavirenz, (S)-isomer
zoxazin-2-one
Éfavirenz
2
Tenofovirapproved, investigationalPhase 4, Phase 3666147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
HHA & Tenofovir
 
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir Disoproxil Fumarate
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
3
Emtricitabineapproved, investigationalPhase 4, Phase 3394143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
4
HydrocortisoneapprovedPhase 4, Phase 358350-23-75754, 657311
Synonyms:
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
1 Hydrocortisone maximum strength
11-Hydrocortisone
11-beta-Hydrocortisone
11-beta-Hydroxycortisone
11a-Hydroxycorticosterone
11alpha-Hydroxycorticosterone
11b,17,21-Trihydroxyprogesterone
11b-Hydrocortisone
11b-Hydroxycortisone
11beta,17,21-Trihydroxyprogesterone
11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione
11beta-Hydrocortisone
11beta-Hydroxycortisone
11beta-hydrocortisone
11β-hydrocortisone
17-Hydroxycorticosterone
17a-Hydroxycorticosterone
17alpha-Hydroxycorticosterone
2v95
4-Pregnen-11beta,17alpha,21-triol-3,20-dione
4-Pregnene-11alpha,21-triol 3,20-dione
4-Pregnene-11b,17a,21-triol-3,20-dione
50-23-7
8056-08-4
80562-38-5
8063-42-1
999 Itch Relieving
A-hydrocort
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Advanced Hydrocortisone
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti Itch
Anti Itch maximum strength
Anti Itch maximum strength plus
Anti-inflammatory hormone
Anti-itch
Anti-itch Scalp Relief Maximum Strength
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Apres Peel Soothing Balm
Aquacort
Aquanil HC
Atopalm Maximum Strength Anti-itch
Atopalm Moisturizing Hydrocortisone
Aveeno Hydrocortisone Anti Itch
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
Bioelements Immediate Comfort Hydrocortisone
Budpak Anti-itch
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Caldecort
Care One Hydrocortisone maximum strength
Cetacort
Chronocort
Cicatricure Ultra Moisturizing
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortaid 12-hour Advanced Anti-Itch
Cortaid Intensive Therapy Cooling
Cortaid Maximum Strength
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisone
Cortisone Cream Intensive Healing
Cortisone Maximum Strength
Cortisone maximum strength
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortizone 10
Cortizone 10 Cooling Cream Anti-itch
Cortizone 10 Cooling Relief
Cortizone 10 Easy Relief
Cortizone 10 Hydratensive Healing Anti Itch
Cortizone 10 Hydratensive Soothing Anti Itch
Cortizone 10 Intensive Healing
Cortizone 10 Intensive Healing Feminine Itch Relief
Cortizone 10 Intensive Healing For Eczema
Cortizone 10 Plus
Cortizone 10 Poison Ivy Relief Pads
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cvs Anti-itch Hydrocortisone
Cvs Cools Itch Fast
Cvs Cortisone
Cvs Pharmacy Anti-itch
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermacort Anti-Itch
Dermaquest Skin Therapy Post-skin Resurfacing Balm
Dermarest Eczema Medicated
Dermaspray
Dermil
Dermocortal
Dermolate
Dg Health Hydrocortisone
Dg Health Hydrocortisone Cream Maximum Strength
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Dr. Sheffield Hydrocortisone Anti Itch
Drotic
Duane Reade
Duane Reade hydrocortisone
Duane Reade hydrocortisone plus 12 moisturizers
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Equaline Anti Itch
Equaline Anti Itch maximum strength
Equate Hydrocortisone
Esiderm H
Evacort
Family Care Hydrocortisone
Family Wellness
Family Wellness Hydrocortisone
Family Wellness Maximum Strength Hydrocortisone
Ficortril
Fiocortril
Fixmyskin Healing Balm Fragrance-free
Fixmyskin Healing Balm Unflavored
Fixmyskin Healing Balm Vanilla Flavor
Fixmyskin Healing Balm Vanilla Fragrance
Flexicort
Foille Insetti
Formu Care Anti Itch maximum strength
Fulton Street Market Anti Itch
Genacort
Genacort (lotion)
Genuine Hydrocortisone
Glycort
Good Neighbor Pharmacy Anti Itch
Good Neighbor Pharmacy Hydrocortisone
Good Neighbor Pharmacy Hydrocortisone Plus 12 Moisturizers
Good Sense Anti Itch
Gyno-Cortisone
H 4001
H-Cort
H-releve Anti-itch
H0135_SIGMA
H0396_SIGMA
H0888_SIGMA
H3160_SIGMA
H4001_SIGMA
H6909_SIGMA
HC
HC #1
HC #4
HC (HYDROCORTISONE)
HMS1569I16
HMS2090M04
HSDB 3339
HYDROCORTISONE AND ACETIC ACID
HYDROCORTISONE IN ABSORBASE
Healerz For Itches
Health Mart Pharmacy Hydrocortisone Maximum Strength Plus 12 Moisturizers
Healthy Accents Cortisone maximum strength
Heb Cort
Heb-Cort
 
Hem-easy Relief Herbal Anti-itch Maximum Itch Relief
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro Skin
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone 1 plus 10
Hydrocortisone Acetate
Hydrocortisone Anti-itch Plus
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone D
Hydrocortisone HC
Hydrocortisone Intensive Healing Formula
Hydrocortisone Maximum Strength
Hydrocortisone Maximum Strength Plus 12 Moisturizers
Hydrocortisone Plus
Hydrocortisone Plus 12 Moisturizers
Hydrocortisone Probutate
Hydrocortisone Regular Strength
Hydrocortisone Sodium Phosphate
Hydrocortisone Ultra Strength
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone anti itch
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone maximum strength
Hydrocortisone solution
Hydrocortisone-Water Soluble
Hydrocortisonum
Hydrocortisonum [INN-Latin]
Hydrocortistab
Hydrocortisyl
Hydrocortone
Hydroskin
Hydroxycortisone
Hysone
Hytisone
Hytone
Hytone (TN)
Hytone lotion
Idrocortisone
Idrocortisone [DCIT]
Incortin-H
Incortin-hydrogen
Intensive Healing Anti Itch
Kaiser Permanente Hydrocortisone
Kendall'S compound F
Kendall's compound F
Kera Hc Hydrocortisone
Kirkland Signature Hydrocortisone Plus maximum strength
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Leader Hydrocortisone
Locoid
Loesch Anti-Itch Therapy
Lopac0_000594
Lubricort
Lucky Supersoft MAXIMUM STRENGTH
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Makesense MAXIMUM STRENGTH
Maximum Strength Cortizone 10 Quick Shot 360 Continuous
Maximum Strength Hydrocortisone
Maximum-h
Medicort
Medpride
Meijer Anti Itch
Meijer Anti Itch Cream Plus
Meijer Hydrocortisone
Meijer Hydrocortisone Plus 12 Moisturizers
Members Mark Hydrocortisone
Meusicort
Mildison
Milliderm
MolPort-001-794-637
Monistat Complete Care Instant Itch Relief
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Natureplex Hydrocortisone Hydro
Neo-Cort-Dome
Neo-Cortef
Neosporin Eczema Essentials Anti Itch
Neosporin-H Ear
Nogenic HC
Nu-derm Tolereen Anti-pruritic
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pandel
Pediaderm Hc
Pediotic Suspension
Penecort
Permicort
Piyanping Antiitch
Polcort H
Premier Value Hydrocortisone
Premier Value Hydrocortisone Plus 12 Moisturizers
Preparation H Hydrocortisone
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proactiv Solution Anti-itch Scalp
Procto-pak
Proctocort
Proctocream HC
Proctofoam
Proctosol-hc
Proctozone HC
Procure
Protocort
Publix Hydro
Publix hydro plus
Quadrydern
Quality Choice Hydrocortisone
Quality Choice Hydrocortisone Maximum Strength
Quality Choice Maximum Strength Anti Itch
Racet
Rectasol-HC
Rectoid
Refuge Hc
Reichstein'S substance M
Reichstein's substance M
Remederm HC
Rexall Anti Itch maximum strength relief
Rexall Hydrocortisone 1
Rexall Hydrocortisone plus moisturizers
Rite Aid anti-itch
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Safeway Hydrocortisone Plus 12 Moisturizers
Sanatison
Scalp-Cort
Scalpicin Anti-Itch Maximum Strength
Scalpicin Capilar
Scalpicin Maximum Strength
Scalpicin Scalp Itch Medication Maximum Strength
Schericur
Scheroson F
Shopko Hydrocortisone
Shopko Hydrocortisone Intensive Healing Formula
Shopko Hydrocortisone Maximum Strength
Shopko Hydrocortisone Plus 12 Moisturizers Maximum Strength
Shopko Maximum Strength
Shoprite Hydrocortisone
Sigmacort
Signef
Smart Sense Anti Itch
Smart Sense Anti Itch maximum strength
Smart Sense Hydrocortisone
Solu-cortef
Soothe Rodan Fields
Stie-cort
Stiefcorcil
Sunmark Hydrocortisone
Sunmark Hydrocortisone Plus 12 Moisturizers
Synacort
Systral Hydrocort
Tarcortin
Tecnu Corticool
Texacort
Texacort lotion 25
Thera Plus
Timocort
Topcare Hydrocortisone
Topcare Hydrocortisone Intensive Healing Formula
Topcare Hydrocortisone Plus 12 Moisturizers
Topicort
Transderma H
Traumaide
Truelipids Anti-itch Barrier
U-cort
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Walgreens Hydrocortisone Plus 12 Moisturizers
Westcort
Western Family HydroCortisone
Western Family HydroCortisone Plus 12 Moisturizers
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
5
Vareniclineapproved, investigationalPhase 4255249296-44-45310966
Synonyms:
249296-44-4
7,8,9,10-Tetrahydro-6,10-methano-6H-pyrazino(2,3-h)(3)benzazepine
7,8,9,10-tetrahydro-6h-6,10-methanoazepino[4,5-g]quinoxaline
AC1L55H0
AC1Q4W6H
AKOS005145561
AR-1H2911
CHEBI:430452
CHEMBL1396
CID170361
CP 526555
 
CP-526,555
Champix
Chantix
D08669
HSDB 7591
I14-1963
LS-187375
UNII-W6HS99O8ZO
Varenicline
Varenicline (INN)
Varenicline tartrate
varenicline
6
BenzocaineapprovedPhase 4, Phase 316841994-09-7, 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
7
CitalopramapprovedPhase 449459729-33-82771
Synonyms:
1,3-Dihydro-1-(3-(dimethylamino)propyl)-1-(4-fluorophenyl)-5-isobenzofurancarbonitrile
1,3-dihydro[3,4]benzofuran-5-carbonitrile
1-(3-(Dimethylamino)propyl)-1-(p-fluorophenyl)-5-phthalancarbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-3H-2-benzofuran-5-carbonitrile
59729-33-8
AB00513896
AC-12214
AC1L1EFH
AE-641/00603021
Akarin
BPBio1_000929
BRD-A47598013-004-02-0
BSPBio_000843
Bonitrile
C07572
C20H21FN2O
CHEBI:3723
CHEMBL549
CID2771
CPD000465669
Celapram
Celexa
Celius
Ciazil
Cilift
Cipram
Cipramil
Ciprapine
Citabax
Citadur
Citadur (TN)
Citalec
Citalopram
Citalopram (USP/INN)
Citalopram Hydrobromide
Citalopram [Celexa]
Citalopram [INN:BAN]
Citalopram hydrobromide
Citalopramum
Citalopramum [INN-Latin]
 
Citol
Citopam
Citox
Citrol
Cytalopram
D07704
DB00215
Dalsan
EINECS 261-891-1
Elopram
HMS2090O09
HMS2093A14
Humorup
I01-0382
InChI=1/C20H21FN2O/c1-23(2)11-3-10-20(17-5-7-18(21)8-6-17)19-9-4-15(13-22)12-16(19)14-24-20/h4-9,12H,3,10-11,14H2,1-2H3
L001223
LS-84327
Lopac0_000258
Lu 10-171
Lu-10-171
MolPort-003-666-794
NCGC00015267-07
NCGC00025160-02
Nitalapram
Oropram
Perrigo Citalopram
Pramcit
Prestwick3_000692
Recital
SAM002589960
ST069372
STL058639
Seropram
Talam
Talohexal
Temperax
UNII-0DHU5B8D6V
Vodelax
Zentius
Zetalo
[3H]Citalopram
citalopram
8
TicagrelorapprovedPhase 4275274693-27-59871419
Synonyms:
(1S,2S,3R,5S)-3-(7-((1R,2S)-2-(3,4-Difluorophenyl)cyclopropylamino)-5-(propylthio)-3H-(1,2,3)triazolo(4,5-D)pyrimidin-3-yl)-5-(2-hydroxyethoxy)cyclopentane-1,2-diol
AZD 6140
 
AZD-6140
AZD6140
Brilinta
9
Bivalirudinapproved, investigationalPhase 464128270-60-016129704
Synonyms:
(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-1-[(2S,3S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[(2S)-2-[[2-[[(2S)-4-amino-2-[[2-[[2-[[2-[[2-[[(2S)-1-[(2S)-2-[[(2S)-1-[(2R)-2-amino-3-cyclohexylpropanoyl]pyrrolidine-2-carbonyl]amino]-5-carbamimidamidopentanoyl]pyrrolidine-2-carbonyl]amino]acetyl]amino]acetyl]amino]acetyl]amino]acetyl]amino]-4-oxobutanoyl]amino]acetyl]amino]-4-hydroxy-4-oxobutanoyl]amino]-3-cyclohexylpropanoyl]amino]-5-hydroxy-5-oxopentanoyl]amino]-5-hydroxy-5-oxopentanoyl]amino]-3-methylpentanoyl]pyrrolidine-2-carbonyl]amino]-5-hydroxy-5-oxopentanoyl]amino]-5-hydroxy-5-oxopentanoyl]amino]-3-(4-hydroxyphenyl)propanoyl]amino]-4-methylpentanoic acid
128270-60-0
Angiomax
BG 8967
BG-8967
BG8967
Bivalirudin
Bivalirudin [USAN:BAN:INN]
C074619
C9H11NO.C2H6.CH4
CHEBI:59173
D-Phenylalanyl-L-prolyl-L-arginyl-L-prolylglycylglycylglycylglycyl-L-asparaginylglycyl-L-alpha-aspartyl-L-phenylalanyl-L-alpha-glutamyl-L-alpha-glutamyl-L-isoleucyl-L-prolyl-L-alpha-glutamyl-L-alpha-glutamyl-L-tyrosyl-L-leucine
 
DB02351
HS-2004
Hirulog
Hirulog-1
LS-172701
Phe-Pro-Arg-Pro-(Gly)4 desulfato-Tyr63'-hirugen
Phe-Pro-Arg-Pro-(Gly)4-Asn-Gly-Asp-Phe-Glu-Glu-Ile-Pro-Glu-Glu-Tyr-Leu
Phe-Pro-Arg-Pro-(Gly)4-desulfohirudin-(53-64)
The Medicines Company brand of bivalirudin
UNII-TN9BEX005G
bivalirudina
bivalirudine
bivalirudinum
10
Clopidogrelapproved, nutraceuticalPhase 4, Phase 3717120202-66-6, 113665-84-260606
Synonyms:
( )-(S)-Clopidogrel
(+)-(S)-Clopidogrel
(+)-Clopidogrel
(S)-Clopidogrel
(S)-Methyl 2-(2-chlorophenyl)-2-(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)acetate
113665-84-2
AC-19024
AC1L1TKZ
AC1Q41I9
BIDD:GT0284
BRD-K27721098-065-02-9
BSPBio_003211
C16H16ClNO2S
CGE
CHEBI:37941
CHEMBL1771
CID60606
CLOPIDOGREL SULFATE
CPD000550475
Clopidogrel
Clopidogrel (INN)
Clopidogrel (TN)
Clopidogrel Bisulfate
Clopidogrel [BAN:INN]
Clopidogrel [Ban:Inn]
Clopidogrel [INN:BAN]
Clopidogrel bisulfate
Clopidogrel bisulphate
Clopidogrel sulfate
Clopidogrelum
D07729
DB00758
DivK1c_000787
HMS2090O21
HMS502H09
HSDB 7430
 
IDI1_000787
Isocover
KBio1_000787
KBio2_000545
KBio2_003113
KBio2_005681
KBio3_002431
KBioGR_000689
KBioSS_000545
LS-172232
MLS001165708
MLS001195633
MLS001304711
Methyl (+)-(S)-alpha-(o-chlorophenyl)-6,7-dihydrothieno(3,2-c)pyridine-5(4H)-acetate
MolPort-002-885-817
MolPort-003-845-991
NCGC00163329-02
NINDS_000787
Plavix
Plavix (TN)
SAM002589956
SMR000550475
SPBio_000463
SR 25990
STK580572
STOCK5S-27782
Spectrum2_000512
Spectrum3_001606
Spectrum4_000175
Spectrum_000105
TL8000400
UNII-A74586SNO7
Zyllt
clopidogrel
clopidogrel, (+)(S)-isomer
methyl (2S)-(2-chlorophenyl)(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)ethanoate
methyl (2S)-2-(2-chlorophenyl)-2-(6,7-dihydro-4H-thieno[3,2-c]pyridin-5-yl)acetate
nchem.651-comp8
11
butyric acidexperimentalPhase 4, Phase 3292107-92-6264
Synonyms:
1-Butanoate
1-Butanoic acid
1-Butyrate
1-Butyric acid
1-Propanecarboxylate
1-Propanecarboxylic acid
Butanate
Butanic acid
Butanoate
Butanoic acid
Buttersaeure
Butyrate
 
Butyric acid
Ethylacetate
Ethylacetic acid
Honey robber
Kyselina maselna
N-Butanoate
N-Butanoic acid
N-Butyrate
N-Butyric acid
Propanecarboxylate
Propanecarboxylic acid
Propylformate
Propylformic acid
12Dermatologic AgentsPhase 4, Phase 34555
13Anti-Infective AgentsPhase 4, Phase 3, Phase 2, Phase 117220
14Nucleic Acid Synthesis InhibitorsPhase 4, Phase 3, Phase 23836
15Reverse Transcriptase InhibitorsPhase 4, Phase 31656
16Antiviral AgentsPhase 4, Phase 3, Phase 28071
17Anti-Retroviral AgentsPhase 4, Phase 32794
18Protease InhibitorsPhase 4, Phase 34558
19HIV Protease InhibitorsPhase 4, Phase 34558
20Emtricitabine, Tenofovir Disoproxil Fumarate Drug CombinationPhase 4, Phase 3130
21Neurotransmitter Uptake InhibitorsPhase 42857
22Neurotransmitter AgentsPhase 4, Phase 314795
23ParasympatholyticsPhase 4902
24Peripheral Nervous System AgentsPhase 4, Phase 318510
25Psychotropic DrugsPhase 45501
26Cholinergic AntagonistsPhase 41423
27Cholinergic AgentsPhase 43243
28Antidepressive AgentsPhase 42367
29Anti-Inflammatory AgentsPhase 4, Phase 38478
30Antidepressive Agents, Second-GenerationPhase 41087
31Antiparkinson AgentsPhase 41312
32
SerotoninPhase 4314750-67-95202
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
33Muscarinic AntagonistsPhase 4961
34Hydrocortisone 17-butyrate 21-propionatePhase 4, Phase 3583
35Hydrocortisone-17-butyratePhase 4, Phase 3583
36Contraceptives, OralPhase 43734
37Nicotinic AgonistsPhase 4701
38Cortisol succinatePhase 4, Phase 3583
39Serotonin AgentsPhase 42668
40AnticoagulantsPhase 4, Phase 31760
41Hydrocortisone acetatePhase 4, Phase 3583
42Serotonin Uptake InhibitorsPhase 41369
43Antithrombin IIIPhase 4563
44Platelet Aggregation InhibitorsPhase 4, Phase 31935
45Purinergic P2Y Receptor AntagonistsPhase 4, Phase 3654
46Purinergic P2 Receptor AntagonistsPhase 4, Phase 3656
47AntithrombinsPhase 4574
48Serine Proteinase InhibitorsPhase 4705
49tannic acidNutraceuticalPhase 4, Phase 31684
50serineNutraceuticalPhase 4770

Interventional clinical trials:

(show top 50)    (show all 82)
idNameStatusNCT IDPhase
1Prognosis of Acute Coronary Syndrome in HIV-infected PatientsCompletedNCT00139958Phase 4
2Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia, and Mixed Vascular and Alzheimer’s DementiaRecruitingNCT00229333Phase 4
3Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and DiabetesRecruitingNCT02236481Phase 4
4Safety and Efficacy of the Novel Selective Nicotinic Receptor Partial Agonist, CHANTIX (Varenicline) in Patients With Acute Coronary SyndromeRecruitingNCT01170338Phase 4
5ADjunctive coRticosteroid trEatment iN criticAlly ilL Patients With Septic ShockRecruitingNCT01448109Phase 4
6Ticagrelor vs Clopidogrel in Non-ST Elevation Acute Coronary Syndrome Patients Undergoing PCI With Bivalirudin.TerminatedNCT02052635Phase 4
7A Pilot Study to Determine if Raltegravir Eradicates HIV From Peripheral Blood Mononuclear CellsWithdrawnNCT01173510Phase 4
8PROVIGIL® (Modafinil) Treatment in Children and Adolescents With Excessive Sleepiness Associated With Narcolepsy or Obstructive Sleep Apnea/Hypopnea SyndromeCompletedNCT00107848Phase 3
9Sedation Management in Pediatric Patients With Acute Respiratory Failure (The RESTORE Study)CompletedNCT00814099Phase 3
10Efficacy and Safety Study of StemEx®, to Treat Subjects With High Risk Hematologic Malignancies, Following Myeloablative TherapyCompletedNCT00469729Phase 2, Phase 3
11Vincristine, Dactinomycin, and Doxorubicin With or Without Radiation Therapy or Observation Only in Treating Younger Patients Who Are Undergoing Surgery for Newly Diagnosed Stage I, Stage II, or Stage III Wilms' TumorCompletedNCT00352534Phase 3
12Study of Lopinavir/Ritonavir Tablets Versus Soft Gel Capsules and Once Daily Versus Twice Daily Administration, When Coadministered With Nucleoside Reverse Transcriptase Inhibitors in Antiretroviral Naive Human Immunodeficiency Virus Type 1 Infected SubjeCompletedNCT00262522Phase 3
13Preventing Sexual Transmission of HIV With Anti-HIV DrugsCompletedNCT00074581Phase 3
14Treatment for Endogenous Cushing's SyndromeRecruitingNCT01838551Phase 3
15Cardiovascular Inflammation Reduction TrialRecruitingNCT01594333Phase 3
16Stem Cell Transplantation From HLA Partially-Matched Related Donors for Patients With Hematologic MalignanciesRecruitingNCT02566395Phase 3
17Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic LymphomaRecruitingNCT01190930Phase 3
18Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk Acute Lymphoblastic LeukemiaRecruitingNCT01406756Phase 3
19Evaluation of the Duration of Therapy for Thrombosis in ChildrenRecruitingNCT00687882Phase 3
20Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC)RecruitingNCT01737814Phase 3
21Heart And Lung Failure - Pediatric INsulin Titration TrialRecruitingNCT01565941Phase 3
22Dry Eye Assessment and Management StudyRecruitingNCT02128763Phase 3
23Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)RecruitingNCT02579759Phase 3
24Randomized Trial of Lenalidomide, Bortezomib, Dexamethasone vs High-Dose Treatment With SCT in MM Patients up to Age 65RecruitingNCT01208662Phase 3
25Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Lymphoblastic LeukemiaActive, not recruitingNCT00103285Phase 3
26Trial of Eflornithine Plus Sulindac in Patients With Familial Adenomatous Polyposis (FAP)Active, not recruitingNCT01483144Phase 3
27Combination Chemotherapy With or Without Radiation Therapy in Treating Young Patients With Newly Diagnosed Stage III or Stage IV Wilms' TumorActive, not recruitingNCT00379340Phase 3
28Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
29Clopidogrel and the Optimization of Gastrointestinal Events (COGENT-1)TerminatedNCT00557921Phase 3
30A Trial of Low Dose Sulindac Combined With Eflornithine in Patients With Familial Adenomatous Polyposis (FAP)WithdrawnNCT01245816Phase 3
31Pleconaril Enteroviral Sepsis SyndromeCompletedNCT00031512Phase 2
32Combination Chemotherapy, Radiation Therapy, and/or Surgery in Treating Patients With High-Risk Kidney TumorsCompletedNCT00335556Phase 2
33Safety and Efficacy Study of Rebamipide 2% Ophthalmic Suspension in Subjects With Dry Eye - Effects on Central CorneaCompletedNCT01057147Phase 2
34Evaluation of Safety/Efficacy of Diagnostic Skin Test Panel and Desensitization Hormone Kit for Treatment of Premenstrual Syndrome (PMS)RecruitingNCT00873262Phase 2
35A Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients With Transfusion-Dependent Diamond Blackfan AnemiaRecruitingNCT01362595Phase 1, Phase 2
36Transplantation of NiCord®, Umbilical Cord Blood-derived Ex Vivo Expanded Cells, in Patients With HMRecruitingNCT01816230Phase 1, Phase 2
37Expanded Cord Blood in Patients in Need of an Allogeneic Stem Cell TransplantRecruitingNCT02668315Phase 1, Phase 2
38Congenital CMV and Hearing Loss in Children up to 4 Years of Age: Treating With Valganciclovir TherapyRecruitingNCT01649869Phase 2
39Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan AnemiaActive, not recruitingNCT01464164Phase 1, Phase 2
40Randomized, Double-Blind, Safety and Efficacy Study of RE-021 (Sparsentan) in Focal Segmental GlomerulosclerosisActive, not recruitingNCT01613118Phase 2
41Evaluating the Safety and Effectiveness of Bone Marrow Transplants in Children With Sickle Cell Disease (BMT CTN 0601)Active, not recruitingNCT00745420Phase 2
42Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh SyndromeEnrolling by invitationNCT02352896Phase 2
43A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
44Sodium Benzoate for Treatment of Attenuated/Transient Psychosis. A Randomized Placebo-controlled Trial.WithdrawnNCT02026947Phase 2
45Anti-CD20 Antibody Therapy for Sjogren's SyndromeCompletedNCT00101829Phase 1
46Metronidazole Pharmacokinetics (PK) in Premature InfantsCompletedNCT01222585Phase 1
47Ayurvedic Versus Conventional Counseling in Mothers With Burnout-SyndromeCompletedNCT01797887
48Study of the Efficiency of Education About Cardiovascular Risk Factors in Patients After an Acute Coronary SyndromeCompletedNCT00337480
49Cognitive Behavioural Therapy (CBT) and Recreational Activity for Autism Spectrum Disorders (ASD)CompletedNCT01655173
50EValuation of REsidual Platelet REactivity After Acute Coronary Syndrome (ST+/ST-) in HIVCompletedNCT02380391

Search NIH Clinical Center for Cohen Syndrome

Genetic Tests for Cohen Syndrome

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Genetic tests related to Cohen Syndrome:

id Genetic test Affiliating Genes
1 Cohen Syndrome22 VPS13B

Anatomical Context for Cohen Syndrome

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MalaCards organs/tissues related to Cohen Syndrome:

33
Eye, Bone, Kidney, Heart, Lung, Skin, Testes

Animal Models for Cohen Syndrome or affiliated genes

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Publications for Cohen Syndrome

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Articles related to Cohen Syndrome:

(show top 50)    (show all 111)
idTitleAuthorsYear
1
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. (25492866)
2015
2
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. (26358774)
2015
3
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. (25502226)
2014
4
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). (24803775)
2014
5
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. (23557616)
2013
6
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. (22233653)
2012
7
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. (21605373)
2011
8
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. (21330571)
2011
9
Ophthalmic findings in the Greek isolate of Cohen syndrome. (21344628)
2011
10
Cohen syndrome - a rare genetic cause of hypotonia in children. (21977120)
2010
11
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. (19190672)
2009
12
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. (20098905)
2009
13
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. (18655112)
2008
14
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. (17383910)
2007
15
Pediatric ophthalmologic findings of Cohen syndrome in twins. (15724900)
2005
16
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. (15793684)
2005
17
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. (16354227)
2005
18
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. (15691367)
2005
19
Delineation of Cohen syndrome following a large-scale genotype- phenotype screen. (15141358)
2004
20
Cohen syndrome with insulin resistance and seizure. (14738954)
2004
21
The anesthetic management of a patient with Cohen syndrome. (15333397)
2004
22
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. (15173253)
2004
23
Cohen syndrome in the Ohio Amish. (15211651)
2004
24
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. (12676892)
2003
25
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
26
Neuropsychological assessment of a group of UK patients with Cohen syndrome. (12690562)
2003
27
Cohen syndrome and rheumatoid arthritis. (12017242)
2002
28
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia. (12558120)
2002
29
Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22. (11980891)
2002
30
Does a Jewish type of Cohen syndrome truly exist? (12210312)
2002
31
Cohen syndrome with acanthosis nigricans and insulin resistance. (11453534)
2001
32
Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy. (11754073)
2001
33
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. (10842298)
2000
34
The Camera-Marugo-Cohen syndrome: report of two new patients. (10482867)
1999
35
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. (9825573)
1998
36
Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports. (9803437)
1998
37
A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. (9457500)
1997
38
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. (7920642)
1994
39
Cohen syndrome is neither uncommon nor new. (7856650)
1994
40
Cohen Syndrome (20301655)
1993
41
Cohen syndrome: fertility in a female patient. (1778007)
1991
42
Growth hormone deficiency in a girl with the Cohen syndrome. (1999833)
1991
43
The Cohen syndrome. Retinal lesions and granulocytopenia. (2348983)
1990
44
Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus. (1981180)
1990
45
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). (2260606)
1990
46
Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? (3096139)
1986
47
Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome? (6713711)
1984
48
Sexual development in a girl with Cohen syndrome. (7086576)
1982
49
Cardiac involvement in the Cohen syndrome: a case report. (7438489)
1980
50
Confirmation of the Cohen syndrome. (671157)
1978

Variations for Cohen Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1VPS13Bp.Tyr2341CysVAR_038422
2VPS13Bp.Gly2645AspVAR_038423
3VPS13Bp.Asn2993SerVAR_038424rs28940272
4VPS13Bp.Ser2773LeuVAR_058754
5VPS13Bp.Ile2820ThrVAR_058755

Clinvar genetic disease variations for Cohen Syndrome:

5 (show all 100)
id Gene Variation Type Significance SNP ID Assembly Location
1VPS13BNM_017890.4(VPS13B): c.5983+2dupTduplicationPathogenicrs587777381GRCh37Chr 8, 100654728: 100654728
2VPS13BNM_017890.4(VPS13B): c.11119+2T> Csingle nucleotide variantPathogenicrs587777382GRCh37Chr 8, 100871710: 100871710
3VPS13BNM_017890.4(VPS13B): c.8945T> A (p.Leu2982Ter)single nucleotide variantPathogenicrs727504219GRCh37Chr 8, 100832226: 100832226
4VPS13BNM_017890.4(VPS13B): c.11906_11916delCCAGCTGTTCTinsG (p.Pro3969Argfs)indelLikely pathogenicrs786204456GRCh37Chr 8, 100887731: 100887741
5VPS13BNM_017890.4(VPS13B): c.5334dupT (p.Gly1779Trpfs)duplicationLikely pathogenicrs786204533GRCh37Chr 8, 100654077: 100654077
6VPS13BNM_017890.4(VPS13B): c.11780_11784delCAGTGinsAGAA (p.Thr3927Lysfs)indelLikely pathogenicrs386834067GRCh37Chr 8, 100883885: 100883889
7VPS13BNM_017890.4(VPS13B): c.9406-1G> Csingle nucleotide variantPathogenicrs386834119GRCh37Chr 8, 100844596: 100844596
8VPS13BNM_017890.4(VPS13B): c.11453C> G (p.Ser3818Ter)single nucleotide variantPathogenicrs794727771GRCh37Chr 8, 100880679: 100880679
9VPS13BNM_017890.4(VPS13B): c.8990G> A (p.Trp2997Ter)single nucleotide variantPathogenicrs797046098GRCh37Chr 8, 100832271: 100832271
10VPS13BNM_017890.4(VPS13B): c.3348_3349delCT (p.Cys1117Phefs)deletionPathogenicrs180177327GRCh37Chr 8, 100454766: 100454767
11VPS13BNM_017890.4(VPS13B): c.6578T> G (p.Leu2193Arg)single nucleotide variantPathogenicrs120074149GRCh37Chr 8, 100729447: 100729447
12VPS13BNM_017890.4(VPS13B): c.7051C> T (p.Arg2351Ter)single nucleotide variantPathogenicrs120074150GRCh37Chr 8, 100733201: 100733201
13VPS13BNM_017890.4(VPS13B): c.4471G> T (p.Glu1491Ter)single nucleotide variantPathogenicrs120074151GRCh37Chr 8, 100523503: 100523503
14VPS13BNM_017890.4(VPS13B): c.2911C> T (p.Arg971Ter)single nucleotide variantPathogenicrs120074152GRCh37Chr 8, 100396522: 100396522
15VPS13BNM_017890.4(VPS13B): c.7934G> A (p.Gly2645Asp)single nucleotide variantPathogenicrs120074153GRCh37Chr 8, 100796622: 100796622
16VPS13BNM_017890.4(VPS13B): c.10888C> T (p.Gln3630Ter)single nucleotide variantPathogenicrs120074154GRCh37Chr 8, 100866430: 100866430
17VPS13BNM_017890.4(VPS13B): c.9260dupT (p.Leu3087Phefs)duplicationLikely pathogenic, Pathogenicrs180177329GRCh37Chr 8, 100836061: 100836061
18VPS13BNM_017890.4(VPS13B): c.8459T> C (p.Ile2820Thr)single nucleotide variantPathogenicrs120074155GRCh37Chr 8, 100830701: 100830701
19VPS13BVPS13B, EX6-16DELdeletionPathogenic
20VPS13BVPS13B, 1-BP DEL, 11564AdeletionPathogenic
21VPS13BVPS13B, EX46-50DELdeletionPathogenic
22VPS13BNM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs)deletionLikely pathogenicrs386834054GRCh37Chr 8, 100861062: 100861063
23VPS13BNM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs)duplicationLikely pathogenicrs386834055GRCh37Chr 8, 100865698: 100865698
24VPS13BNM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs)deletionLikely pathogenicrs386834056GRCh37Chr 8, 100866383: 100866386
25VPS13BNM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter)single nucleotide variantLikely pathogenicrs386834057GRCh37Chr 8, 100871535: 100871535
26VPS13BNM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs)deletionLikely pathogenicrs386834058GRCh37Chr 8, 100874009: 100874009
27VPS13BNM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs)duplicationLikely pathogenicrs386834059GRCh37Chr 8, 100874053: 100874056
28VPS13BNM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter)single nucleotide variantLikely pathogenicrs386834060GRCh37Chr 8, 100874100: 100874100
29VPS13BNM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter)single nucleotide variantLikely pathogenicrs386834061GRCh37Chr 8, 100880540: 100880540
30VPS13BNM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs)deletionLikely pathogenicrs386834062GRCh37Chr 8, 100883050: 100883050
31VPS13BNM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs)duplicationLikely pathogenicrs386834063GRCh37Chr 8, 100883101: 100883101
32VPS13BNM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs)deletionLikely pathogenicrs386834064GRCh37Chr 8, 100883109: 100883109
33VPS13BNM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs)deletionLikely pathogenicrs386834065GRCh37Chr 8, 100883703: 100883703
34VPS13BNM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs)deletionLikely pathogenicrs386834066GRCh37Chr 8, 100883800: 100883803
35VPS13BNM_017890.4(VPS13B): c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys)indelLikely pathogenicrs386834067GRCh37Chr 8, 100883885: 100883889
36VPS13BNM_017890.4(VPS13B): c.11825_11827dupATG (p.Asp3942_Gly3943insAsp)duplicationLikely pathogenicrs386834068GRCh37Chr 8, 100887650: 100887652
37VPS13BNM_017890.4(VPS13B): c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs)deletionLikely pathogenicrs386834069GRCh37Chr 8, 100887731: 100887740
38VPS13BNM_017890.4(VPS13B): c.11907dupC (p.Ser3970Glnfs)duplicationLikely pathogenic, Pathogenicrs180177374GRCh37Chr 8, 100887732: 100887732
39VPS13BNM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter)single nucleotide variantLikely pathogenicrs386834070GRCh37Chr 8, 100146872: 100146872
40VPS13BNM_017890.4(VPS13B): c.1225G> T (p.Glu409Ter)single nucleotide variantLikely pathogenicrs386834071GRCh37Chr 8, 100146878: 100146878
41VPS13BNM_017890.4(VPS13B): c.1269_1273delATTGT (p.Cys425Glyfs)deletionLikely pathogenicrs386834072GRCh37Chr 8, 100146922: 100146926
42VPS13BNM_017890.4(VPS13B): c.1844-2A> Gsingle nucleotide variantLikely pathogenicrs386834073GRCh37Chr 8, 100160067: 100160067
43VPS13BNM_017890.4(VPS13B): c.2047delC (p.Gln683Serfs)deletionLikely pathogenicrs386834074GRCh37Chr 8, 100168810: 100168810
44VPS13BNM_017890.4(VPS13B): c.2074C> T (p.Arg692Ter)single nucleotide variantLikely pathogenic, Pathogenicrs180177356GRCh37Chr 8, 100168837: 100168837
45VPS13BNM_017890.4(VPS13B): c.219_220delACinsT (p.Lys73Asnfs)indelLikely pathogenicrs386834075GRCh37Chr 8, 100050722: 100050723
46VPS13BNM_017890.4(VPS13B): c.22_23delCCinsA (p.Pro8Lysfs)indelLikely pathogenicrs386834076GRCh37Chr 8, 100026038: 100026039
47VPS13BNM_017890.4(VPS13B): c.2651-1G> Asingle nucleotide variantLikely pathogenicrs386834077GRCh37Chr 8, 100287308: 100287308
48VPS13BNM_017890.4(VPS13B): c.2727_2730dupGCTC (p.Asn911Alafs)duplicationLikely pathogenic, Pathogenicrs180177357GRCh37Chr 8, 100287385: 100287388
49VPS13BNM_017890.4(VPS13B): c.2889G> A (p.Trp963Ter)single nucleotide variantLikely pathogenicrs386834078GRCh37Chr 8, 100396500: 100396500
50VPS13BNM_017890.4(VPS13B): c.292-2A> Gsingle nucleotide variantLikely pathogenicrs386834079GRCh37Chr 8, 100108538: 100108538
51VPS13BNM_017890.4(VPS13B): c.2934+1_2934+2delGTdeletionLikely pathogenic, Pathogenicrs180177358GRCh37Chr 8, 100396546: 100396547
52VPS13BNM_017890.4(VPS13B): c.3427C> T (p.Arg1143Ter)single nucleotide variantLikely pathogenicrs386834080GRCh37Chr 8, 100454845: 100454845
53VPS13BNM_017890.4(VPS13B): c.3618T> A (p.Cys1206Ter)single nucleotide variantLikely pathogenicrs386834081GRCh37Chr 8, 100479814: 100479814
54VPS13BNM_017890.4(VPS13B): c.3666+2T> Csingle nucleotide variantLikely pathogenicrs386834082GRCh37Chr 8, 100479864: 100479864
55VPS13BNM_017890.4(VPS13B): c.404dupT (p.Leu135Phefs)duplicationLikely pathogenicrs386834083GRCh37Chr 8, 100108652: 100108652
56VPS13BNM_017890.4(VPS13B): c.4334delA (p.Gln1445Argfs)deletionLikely pathogenicrs386834084GRCh37Chr 8, 100523366: 100523366
57VPS13BNM_017890.4(VPS13B): c.4396dupA (p.Thr1466Asnfs)duplicationLikely pathogenicrs386834085GRCh37Chr 8, 100523428: 100523428
58VPS13BNM_017890.4(VPS13B): c.4411C> T (p.Arg1471Ter)single nucleotide variantLikely pathogenicrs386834086GRCh37Chr 8, 100523443: 100523443
59VPS13BNM_017890.4(VPS13B): c.4474delA (p.Ile1492Phefs)deletionLikely pathogenicrs386834087GRCh37Chr 8, 100523506: 100523506
60VPS13BNM_017890.4(VPS13B): c.4480_4482delCTT (p.Leu1494del)deletionLikely pathogenicrs386834088GRCh37Chr 8, 100523512: 100523514
61VPS13BNM_017890.4(VPS13B): c.4572dupA (p.Glu1525Argfs)duplicationLikely pathogenicrs386834089GRCh37Chr 8, 100523604: 100523604
62VPS13BNM_017890.4(VPS13B): c.467_470delATAA (p.Asn156Ilefs)deletionLikely pathogenicrs386834090GRCh37Chr 8, 100115235: 100115238
63VPS13BNM_017890.4(VPS13B): c.4820+2T> Csingle nucleotide variantLikely pathogenicrs386834091GRCh37Chr 8, 100533240: 100533240
64VPS13BNM_017890.4(VPS13B): c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer)duplicationLikely pathogenic, Pathogenicrs180177359GRCh37Chr 8, 100568735: 100568737
65VPS13BNM_017890.4(VPS13B): c.5215_5232del18 (p.Ser1739_Gln1744del)deletionLikely pathogenic, Pathogenicrs180177362GRCh37Chr 8, 100589781: 100589798
66VPS13BNM_017890.4(VPS13B): c.5331dupT (p.Asp1778Terfs)duplicationLikely pathogenicrs386834094GRCh37Chr 8, 100654074: 100654074
67VPS13BNM_017890.4(VPS13B): c.5426_5427dupAG (p.Gln1810Serfs)duplicationLikely pathogenic, Pathogenicrs180177363GRCh37Chr 8, 100654169: 100654170
68VPS13BNM_017890.4(VPS13B): c.5461dupC (p.Arg1821Profs)duplicationLikely pathogenic, Pathogenicrs180177364GRCh37Chr 8, 100654204: 100654204
69VPS13BNM_017890.4(VPS13B): c.5613_5614insT (p.Lys1872Terfs)insertionLikely pathogenicrs386834095GRCh37Chr 8, 100654356: 100654357
70VPS13BNM_017890.4(VPS13B): c.5737dupA (p.Ile1913Asnfs)duplicationLikely pathogenicrs386834096GRCh37Chr 8, 100654480: 100654480
71VPS13BNM_017890.4(VPS13B): c.5750delC (p.Ser1917Phefs)deletionLikely pathogenicrs386834097GRCh37Chr 8, 100654493: 100654493
72VPS13BNM_017890.4(VPS13B): c.5809_5810delAT (p.Ile1937Cysfs)deletionLikely pathogenicrs386834098GRCh37Chr 8, 100654552: 100654553
73VPS13BNM_017890.4(VPS13B): c.5827C> T (p.Arg1943Ter)single nucleotide variantLikely pathogenicrs386834099GRCh37Chr 8, 100654570: 100654570
74VPS13BNM_017890.4(VPS13B): c.626_627delCA (p.Thr209Serfs)deletionLikely pathogenicrs386834100GRCh37Chr 8, 100123371: 100123372
75VPS13BNM_017890.4(VPS13B): c.6420_6421delGA (p.Gln2140Hisfs)deletionLikely pathogenicrs386834101GRCh37Chr 8, 100712051: 100712052
76VPS13BNM_017890.4(VPS13B): c.6687delA (p.Gln2229Hisfs)deletionLikely pathogenicrs386834102GRCh37Chr 8, 100729556: 100729556
77VPS13BNM_017890.4(VPS13B): c.6732+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs180177366GRCh37Chr 8, 100729602: 100729602
78VPS13BNM_017890.4(VPS13B): c.6733-2A> Gsingle nucleotide variantLikely pathogenicrs386834103GRCh37Chr 8, 100732571: 100732571
79VPS13BNM_017890.4(VPS13B): c.7022A> G (p.Tyr2341Cys)single nucleotide variantLikely pathogenicrs386834104GRCh37Chr 8, 100733172: 100733172
80VPS13BNM_017890.4(VPS13B): c.7221delG (p.Gln2407Hisfs)deletionLikely pathogenicrs386834105GRCh37Chr 8, 100779097: 100779097
81VPS13BNM_017890.4(VPS13B): c.7504+1G> Asingle nucleotide variantLikely pathogenicrs386834106GRCh37Chr 8, 100789185: 100789185
82VPS13BNM_017890.4(VPS13B): c.7603C> T (p.Arg2535Ter)single nucleotide variantLikely pathogenicrs386834107GRCh37Chr 8, 100791008: 100791008
83VPS13BNM_017890.4(VPS13B): c.7610G> A (p.Trp2537Ter)single nucleotide variantLikely pathogenicrs386834108GRCh37Chr 8, 100791015: 100791015
84VPS13BNM_017890.4(VPS13B): c.7936delC (p.Gln2646Argfs)deletionLikely pathogenicrs386834109GRCh37Chr 8, 100796624: 100796624
85VPS13BNM_017890.4(VPS13B): c.8119C> T (p.Arg2707Ter)single nucleotide variantLikely pathogenicrs386834110GRCh37Chr 8, 100821705: 100821705
86VPS13BNM_017890.4(VPS13B): c.8341delC (p.Leu2781Terfs)deletionLikely pathogenicrs386834111GRCh37Chr 8, 100829936: 100829936
87VPS13BNM_017890.4(VPS13B): c.8472G> A (p.Trp2824Ter)single nucleotide variantLikely pathogenicrs386834112GRCh37Chr 8, 100830714: 100830714
88VPS13BNM_017890.4(VPS13B): c.8515C> T (p.Arg2839Ter)single nucleotide variantLikely pathogenicrs386834113GRCh37Chr 8, 100830757: 100830757
89VPS13BNM_017890.4(VPS13B): c.8611delA (p.Thr2871Hisfs)deletionLikely pathogenicrs386834114GRCh37Chr 8, 100831031: 100831031
90VPS13BNM_017890.4(VPS13B): c.8697-2A> Gsingle nucleotide variantLikely pathogenicrs386834115GRCh37Chr 8, 100831638: 100831638
91VPS13BNM_017890.4(VPS13B): c.8697-9A> Gsingle nucleotide variantLikely pathogenicrs386834116GRCh37Chr 8, 100831631: 100831631
92VPS13BNM_017890.4(VPS13B): c.916_917delGA (p.Asp306Tyrfs)deletionLikely pathogenicrs386834117GRCh37Chr 8, 100128081: 100128082
93VPS13BNM_017890.4(VPS13B): c.9406-1G> Tsingle nucleotide variantLikely pathogenicrs386834119GRCh37Chr 8, 100844596: 100844596
94VPS13BNM_017890.4(VPS13B): c.9690-2A> Gsingle nucleotide variantLikely pathogenicrs386834120GRCh37Chr 8, 100847423: 100847423
95VPS13BNM_017890.4(VPS13B): c.9706delT (p.Tyr3236Ilefs)deletionLikely pathogenicrs386834121GRCh37Chr 8, 100847441: 100847441
96VPS13BNM_017890.4(VPS13B): c.9731delA (p.Tyr3244Phefs)deletionLikely pathogenicrs386834122GRCh37Chr 8, 100847466: 100847466
97VPS13BNM_017890.4(VPS13B): c.5086C> T (p.Arg1696Ter)single nucleotide variantLikely pathogenicrs386834093GRCh37Chr 8, 100587947: 100587947
98VPS13BNM_017890.4(VPS13B): c.4923G> A (p.Trp1641Ter)single nucleotide variantLikely pathogenic, Pathogenicrs180177360GRCh37Chr 8, 100568780: 100568780
99VPS13BNM_017890.4(VPS13B): c.2591C> A (p.Ser864Ter)single nucleotide variantPathogenicrs140936527GRCh37Chr 8, 100286501: 100286501
100VPS13BNM_017890.4(VPS13B): c.3598C> T (p.Arg1200Ter)single nucleotide variantPathogenicrs140353201GRCh37Chr 8, 100479794: 100479794

Expression for genes affiliated with Cohen Syndrome

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Search GEO for disease gene expression data for Cohen Syndrome.

Pathways for genes affiliated with Cohen Syndrome

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GO Terms for genes affiliated with Cohen Syndrome

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Sources for Cohen 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