MCID: PHN003
MIFTS: 73

Phenylketonuria malady

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

Aliases & Classifications for Phenylketonuria

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Aliases & Descriptions for Phenylketonuria:

Name: Phenylketonuria 52 35 11 71 48 24 25 54 70 12 38 13
Pku 11 48 24 25 54 70
Phenylalanine Hydroxylase Deficiency 23 48 24 54
Pah Deficiency 23 24 25 54
Phenylketonurias 50 39 68
Folling Disease 48 24 25
Phenylketonuria, Maternal 39 68
Maternal Phenylketonuria 11 54
Deficiency Disease, Phenylalanine Hydroxylase 25
Phenylalanine Hydroxylase Deficiency Disease 25
Non-Phenylketonuria Hyperphenylalaninemia 70
Hyperphenylalaninemic Embryopathy 54
Maternal Hyperphenylalaninemia 54
Oligophrenia Phenylpyruvica 48
 
Phenylketonuric Embryopathy 54
Phenylalanine Hydroxylase 12
Classical Phenylketonuria 68
Phenylketonuria Maternal 50
Variant Phenylketonuria 27
Hyperphenylalaninaemia 68
Hyperphenylalaninemia 70
Følling's Disease 11
Folling's Disease 25
Phenylalaninemia 11
Maternal Pku 54
Non-Pku Hpa 70
Hpa 70

Characteristics:

Orphanet epidemiological data:

54
phenylketonuria:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (France),1-5/10000 (Ireland),1-9/1000000 (Finland),1-5/10000 (Turkey); Age of onset: Infancy; Age of death: normal life expectancy
maternal phenylketonuria:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal

HPO:

64
phenylketonuria:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 261600
Disease Ontology11 DOID:9281
ICD9CM32 270.1
NCIt45 C81315
ICD10 via Orphanet31 E70.0, E70.1
MESH via Orphanet40 D010661
UMLS via Orphanet69 C0031485, C0085547

Summaries for Phenylketonuria

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NIH Rare Diseases:48 Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. If PKU is not treated, phenylalanine can build up to harmful levels in the body. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Without treatment, these children develop permanent intellectual disability. Light skin and hair, seizures, delayed development, behavioral problems, and psychiatric disorders are also common. Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalaninemia, have a smaller risk of brain damage. Babies born to mothers with PKU and women who no longer follow a low-phenylalanine diet have a risk of intellectual disability because they are exposed to very high levels of phenylalanine before birth. PKU is caused by changes (mutations ) in the PAH gene. It is inherited in an autosomal recessive manner. Because PKU can be detected by a simple blood test and is treatable, newborn screening is available for this disorder. The best treatment for PKU is a diet of low-protein foods. Last updated: 12/28/2015

MalaCards based summary: Phenylketonuria, also known as pku, is related to biotinidase deficiency and classic phenylketonuria, and has symptoms including aminoaciduria, cognitive impairment and microcephaly. An important gene associated with Phenylketonuria is PAH (Phenylalanine Hydroxylase), and among its related pathways are phenylalanine degradation/tyrosine biosynthesis and Folate biosynthesis. Affiliated tissues include brain, testes and skin, and related mouse phenotypes are pigmentation and integument.

UniProtKB/Swiss-Prot:70 Hyperphenylalaninemia: Mildest form of phenylalanine hydroxylase deficiency. Non-phenylketonuria hyperphenylalaninemia: Mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one. Phenylketonuria: Autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.

MedlinePlus:38 Phenylketonuria (pku) is a type of amino acid metabolism disorder. it is inherited. if you have it, your body can't process part of a protein called phenylalanine (phe). phe is in almost all foods. if your phe level gets too high, it can damage your brain and cause severe intellectual disability. all babies born in u.s. hospitals must now have a screening test for pku. this makes it easier to diagnose and treat the problem early. the best treatment for pku is a diet of low-protein foods. there are special formulas for newborns. for older children and adults, the diet includes many fruits and vegetables. it also includes some low-protein breads, pastas and cereals. nutritional formulas provide the vitamins and minerals you can't get from their food. babies who get on this special diet soon after they are born develop normally. many have no symptoms of pku. it is important to stay on the diet for the rest of your life. nih: national institute of child health and human development

Genetics Home Reference:25 Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.

OMIM:52 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine... (261600) more...

Disease Ontology:11 An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.

Wikipedia:71 Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino... more...

GeneReviews for NBK1504

Related Diseases for Phenylketonuria

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1biotinidase deficiency29.4ACADM, BTD
2classic phenylketonuria12.1
3mild phenylketonuria12.0
4tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria11.8
5hyperphenylalaninemia11.4
6maternal hyperphenylalaninemia11.2
7dystonia, dopa-responsive, due to sepiapterin reductase deficiency11.0
8hyperphenylalaninemia, bh4-deficient, c11.0
9glycine encephalopathy10.8
10hyperphenylalaninemia, bh4-deficient, a10.8
11amino acid metabolic disorder10.8
12hyperphenylalaninemia, bh4-deficient, b10.8
13sleep apnea10.4GCH1, PTS
14ostertagiasis10.4GCH1, PTS
15hyperhomocysteinemia10.4PTS, QDPR
16podder-tolmie syndrome10.3G6PD, TTR
17ovarian cystic teratoma10.3BGLAP, TTR
18plummer's disease10.3PAH, QDPR, TTR
19fatal infantile encephalocardiomyopathy10.2ACADM, PAH
20kunjin encephalitis10.1TH, TPH1
21hypothyroidism10.1
22congenital hypothyroidism10.0
23cerebritis10.0
24galactosemia10.0
25mild hyperphenylalaninemia9.9
26perry syndrome9.9TH, TPH1
27vulvovaginal gingival syndrome9.9PAH, PCBD1, PTS, QDPR
28atrial fibrillation, familial, 49.9ACADM, BTD, PTS
29histiocytoid hemangioma9.9GCH1, TPH1
30hyperinsulinemic hypoglycemia, familial, 49.9ACADM, HADHA
31atrophic glossitis9.9ACADM, HADHA
32neonatal myasthenia gravis9.9TH, TPH1
33fga-related congenital afibrinogenemia9.8ACADM, HADHA
34vitamin b12 deficiency9.8
35tetralogy of fallot9.8
36obesity9.8
37dementia9.8
38tetrahydrobiopterin deficiency9.8
39neonatal hypothyroidism9.8
40sudden infant death syndrome9.7ACADM, TH, TPH1
41interstitial lung disease9.7TH, TPH1
42pyruvate kinase deficiency9.7
43attention deficit-hyperactivity disorder9.7
44hepatitis9.7
45leukemia9.7
46microcephaly9.7
47epilepsy9.7
48aminoacidopathies9.7
49precocious puberty9.7
50intellectual disability9.7

Graphical network of the top 20 diseases related to Phenylketonuria:



Diseases related to phenylketonuria

Symptoms & Phenotypes for Phenylketonuria

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Symptoms by clinical synopsis from OMIM:

261600

Clinical features from OMIM:

261600

Human phenotypes related to Phenylketonuria:

 64 54 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aminoaciduria64 54 hallmark (90%) Very frequent (99-80%) HP:0003355
2 cognitive impairment64 typical (50%) HP:0100543
3 microcephaly64 HP:0000252
4 cataract64 HP:0000518
5 blue irides64 HP:0000635
6 psychosis64 HP:0000709
7 aggressive behavior64 HP:0000718
8 obsessive-compulsive behavior64 HP:0000722
9 irritability64 HP:0000737
10 anxiety64 HP:0000739
11 self-mutilation64 HP:0000742
12 dry skin64 HP:0000958
13 eczema64 HP:0000964
14 intellectual disability64 HP:0001249
15 seizures64 HP:0001250
16 hyperreflexia64 HP:0001347
17 fair hair64 HP:0002286
18 cerebral calcification64 HP:0002514
19 phenylpyruvic acidemia64 HP:0004920
20 hyperphenylalaninemia64 HP:0004923
21 reduced phenylalanine hydroxylase activity64 HP:0005982
22 attention deficit hyperactivity disorder64 HP:0007018
23 generalized hypopigmentation64 HP:0007513
24 scleroderma64 HP:0100324
25 maternal hyperphenylalaninemia64 HP:0100610
26 malformation of the heart and great vessels54 Occasional (29-5%)
27 intellectual disability, severe54 Frequent (79-30%)

UMLS symptoms related to Phenylketonuria:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, chyluria, pneumatouria, traumatic hematuria, vertigo/dizziness, sleeplessness, morning sickness, dry skin

MGI Mouse Phenotypes related to Phenylketonuria according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2BTD, PAH, PCBD1, PTS
2MP:00107718.4BTD, NIPSNAP1, PAH, PCBD1, PTS, TH
3MP:00053766.1ACADM, BTD, G6PD, HADHA, NIPSNAP1, PAH

Drugs & Therapeutics for Phenylketonuria

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

(show top 50)    (show all 62)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VerapamilapprovedPhase 4, Phase 3, Phase 2, Phase 112552-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
 
KBio3_002823
KBioGR_000233
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
2
BenzocaineapprovedPhase 4, Phase 218921994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
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
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
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]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
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
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
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
3
DopamineapprovedPhase 4375951-61-6, 62-31-7681
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 [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
Melatoninapproved, nutraceutical, vet_approvedPhase 425573-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide
5tannic acidapproved, NutraceuticalPhase 4, Phase 21892
6Anti-Arrhythmia AgentsPhase 4, Phase 3, Phase 2, Phase 12969
7Neurotransmitter AgentsPhase 417734
8calcium channel blockersPhase 4, Phase 3, Phase 2, Phase 11940
9Calcium, DietaryPhase 4, Phase 3, Phase 2, Phase 15525
10Vasodilator AgentsPhase 4, Phase 3, Phase 2, Phase 13438
11Protective AgentsPhase 47190
12Pharmaceutical SolutionsPhase 47793
13Serotonin AgentsPhase 43102
14
SerotoninPhase 4356650-67-95202
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
15AntioxidantsPhase 42928
16Central Nervous System DepressantsPhase 412806
17Dopamine AgentsPhase 43759
18phenylalanineNutraceuticalPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 1158
19DextransPhase 399
20
Nitric OxideapprovedPhase 259910102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
21
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
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 (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
22CaseinsPhase 2104
23Chelating AgentsPhase 21365
24Trace ElementsPhase 25802
25Vitamin B ComplexPhase 24229
26VitaminsPhase 25095
27MicronutrientsPhase 25802
28HematinicsPhase 21630
29Liver ExtractsPhase 1, Phase 23868
30FolateNutraceuticalPhase 24279
31Folinic AcidNutraceuticalPhase 23150
32Vitamin B9NutraceuticalPhase 24279
33
Ethinyl EstradiolapprovedPhase 171257-63-65991
Synonyms:
17 alpha-Ethinylestradiol
17 alpha-Ethynylestradiol
17 alpha-Ethynyloestradiol
17 alpha-ethinyestradiol
17-Ethinyl-3,17-estradiol
17-Ethinyl-3,17-oestradiol
17-Ethinylestradiol
17-Ethynylestradiol
17-Ethynylestradiol ram
17-Ethynyloestradiol
17-alpha-Ethinyl-17-beta-estradiol
17-alpha-Ethynyl-17-beta-oestradiol
17-alpha-Ethynylestradiol
17-alpha-Ethynylestradiol-17-beta
17-alpha-ethynyl estradiol
17-ethinyl-3,17-estradiol
17-ethinyl-3,17-oestradiol
17-ethinylestradiol
17.alpha.-Ethinyl-17.beta.-estradiol
17.alpha.-Ethinylestradiol
17.alpha.-Ethynyl-17.beta.-oestradiol
17.alpha.-Ethynylestradiol
17.alpha.-Ethynylestradiol-l7.beta.
17.alpha.-Ethynyloestradiol
17.alpha.-Ethynyloestradiol-17.beta.
17a-Ethinyl-17b-estradiol
17a-Ethinylestradiol
17a-Ethynyl-17b-oestradiol
17a-Ethynylestradiol
17a-Ethynylestradiol-l7b
17a-Ethynyloestradiol
17a-Ethynyloestradiol-17b
17alpha-Ethinyl estradiol
17alpha-Ethinylestradiol
17alpha-Ethinylestradiol-17beta
17alpha-Ethynylestradiol
17alpha-Ethynyloestradiol
17alpha-Ethynyloestradiol-17beta
17α-ethynylestradiol
406932-93-2
46263_FLUKA
46263_RIEDEL
57-63-6
77538-56-8
AC-2169
AC1L1LK6
AI3-52941
Aethinyloestradiolum
Aethinyoestradiol
Aethinyoestradiol [German]
Alora
Amenoron
Amenorone
Anovlar
BIDD:ER0162
BRN 2419975
Bio-0610
C07534
CCRIS 286
CHEBI:4903
CHEMBL691
CID5991
CPD000058319
Certostat
Chee-O-Gen
Chee-O-Genf
Cyclosa
D004997
D00554
DB00977
Dicromil
Diognat-E
Diogyn E
Diogyn-E
Diprol
Dyloform
E4876_SIGMA
EE
EE(sub 2)
EE2
EINECS 200-342-2
EO
ETHINYLESTRADIOL
Effik Brand of Ethinyl Estradiol
Ertonyl
Esclim
Esteed
Estigyn
Estinyl
Estinyl (TN)
Eston-E
Estopherol
Estoral
Estoral (Orion)
Estoral (VAN)
Estoral [Orion]
Estoral {[Orion]}
Estorals
Estradiol, Ethinyl
Estradiol, Ethynyl
Estring
Estrogen
Ethidol
Ethinoral
Ethinyl E2
Ethinyl Estradiol Hemihydrate
Ethinyl Estradiol [USP]
 
Ethinyl Estradiol, (8 alpha)-Isomer
Ethinyl Oestradiol Effik
Ethinyl estradiol
Ethinyl estradiol (USP)
Ethinyl-Oestradiol Effik
Ethinyl-Oestranol
Ethinyl-oestranol
Ethinylestradiol
Ethinylestradiol (JP15/INN)
Ethinylestradiol Jenapharm
Ethinylestradiol [INN:BAN:JAN]
Ethinylestradiolum
Ethinylestradiolum [INN-Latin]
Ethinylestriol
Ethinyloestradiol
Ethinyloestradiol [Steroidal oestrogens]
Ethy 11
Ethynyl estradiol
Ethynylestradiol
Ethynylestradiol, Ethinyl Estradiol
Ethynyloestradiol
Eticyclin
Eticyclol
Eticylol
Etinestrol
Etinestryl
Etinilestradiol
Etinilestradiol [INN-Spanish]
Etinilestradiolo
Etinilestradiolo [DCIT]
Etinoestryl
Etistradiol
Etivex
Evra
Feminone
Fempatch
Follicoral
Ginestrene
Gynodiol
Gynolett
HMS2051I19
HSDB 3587
Halodrin
Hemihydrate, Ethinyl Estradiol
Inestra
Innofem
Jenapharm Brand of Ethinyl Estradiol
Jenapharm, Ethinylestradiol
Kolpolyn
LMST02010036
LS-231
Linoral
Lynoral
MLS000028479
MLS000758274
Marvelon
Menolyn
Menostar
Mercilon
Microfollin
Microfollin Forte
MolPort-001-794-636
NCGC00091533-01
NCGC00091533-04
NCGC00091533-05
NCI60_000234
NSC-10973
NSC10973
Neo-Estrone
Nogest-S
Novestrol
OVULEN-21
OVULEN-28
Oradiol
Orestralyn
Orestrayln
Organon Brand of Ethinyl Estradiol
Ortho-Cyclen
Ovex
Oviol
PUBERTAL ETHINYL ESTRADIOL STUDY
Palonyl
Perovex
Primogyn
Primogyn C
Primogyn M
Progynon C
Progynon M
Prosexol
S1625_Selleck
SAM001247008
SGCUT00127
SMR000058319
Schering Brand of Ethinyl Estradiol
Spanestrin
Thiuram E
Thiuranide
UNII-423D2T571U
Vagifem
Varnoline
WLN: L E5 B666TTT&J E1 FQ F1UU1 OQ
Ylestrol
component of Demulen
component of Oracon
component of Ortrel
ethinyl estradiol
ethynyl estradiol
to_000048
34
NorgestimateapprovedPhase 138135189-28-76540478
Synonyms:
(+)-13-Ethyl-17-hydroxy-18,19-dinor-17alpha-pregn-4-en-20-yn-3-one oxime acetate (ester)
(17-alpha)-17-(Acetyloxy)-13-ethyl-18,19-dinorpregn-4-en-20-yn-3-one 3-oxime
(17alpha)-17-(Acetyloxy)-13-ethyl-18,19-dinorpregn-4-en-20-yn-3-one 3-oxime
(3E)-17alpha-ethynyl-3-(hydroxyimino)-18a-homoestr-4-en-17beta-yl acetate
35189-28-7
AC-655
AC1O712U
C017576
CHEBI:50815
CHEMBL1200934
CID6540478
D 138
D-13beta-Ethyl-17alpha-ethynyl-17beta-acetoxygon-4-en-3-one oxime
D05209
DB00957
Dexnorgestrel Acetime
Dexnorgestrel acetime
I14-9729
 
LS-62080
NCGC00181353-01
NORGESTIMATE
Norgestimate (USP/INN)
Norgestimate [USAN:INN:BAN]
Norgestimato
Norgestimato [INN-Spanish]
Norgestimatum
Norgestimatum [INN-Latin]
ORF 10131
ORF-10131
Ortho-Prefest
RWJ 10131
RWJ-10131
UNII-C291HFX4DY
ZINC03938695
[(3E,8R,9S,10R,13S,14S,17R)-13-ethyl-17-ethynyl-3-hydroxyimino-1,2,6,7,8,9,10,11,12,14,15,16-dodecahydrocyclopenta[a]phenanthren-17-yl] acetate
d-13-beta-Ethyl-17-alpha-ethynyl-17-beta-acetoxygon-4-en-3-one oxime
d-13beta-Ethyl-17alpha-ethynyl-17beta-acetoxygon-4-en-3-one oxime
norgestrel oxime acetate
35
Estradiolapproved, investigational, vet_approvedPhase 1128350-28-25757, 53477783
Synonyms:
(+)-3,17b-Estradiol
(17b)-Estra-1,3,5(10)-triene-3,17-diol
(17beta)-Estra-1,3,5(10)-triene-3,17-diol
.alpha.-Estradiol
.alpha.-Oestradiol
.beta.-Estradiol
.beta.-Oestradiol
1,3,5[10]-Estratriene-3,17beta-diol 3-sulfate
1,3,5[10]-Estratriene-3,17beta-diol 3-sulphate
13b-Methyl-1,3,5(10)-gonatriene-3,17b-ol
17 beta-Estradiol
17-.BETA.-Estradiol
17-E
17-beta
17-beta-OH-estradiol
17-beta-estradiol
17.beta.-Estradiol
17.beta.-Oestradiol
17E
17b-Estradiol
17b-Oestradiol
17beta Oestradiol
17beta oestradiol
17beta-Estra-1,3,5(10)-triene-3,17-diol
17beta-Estradiol
17beta-Oestradiol
1jgl
1qkt
1qku
2d06
3,17-Epidihydroxyestratriene
3,17-beta-Estradiol
3,17-beta-Oestradiol
3,17.beta.-Estradiol
3,17b-Dihydroxyestra-1,3,5(10)-triene
3,17b-Estradiol
3,17beta-Estradiol
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulfate
3,17beta-dihydroxy-1,3,5[10]-estratriene 3-sulphate
50-28-2
73459-61-7
873662-39-6
AC-10460
AC1L1L2K
Aerodiol
Agofollin
Alora
Altrad
Amnestrogen
Aquadiol
B-Estradiol
BEDOs
BIDD:ER0125
BIDD:PXR0065
BPBio1_000532
BSPBio_000482
BSPBio_001065
Bardiol
Benzhormovarine
Beta-estradiol
Bio-0812
Bio-E-Gel
Bio1_000403
Bio1_000892
Bio1_001381
Bio2_000363
Bio2_000843
C00951
C18H24O2
CCRIS 280
CHEBI:16469
CHEMBL135
CID5757
CMC_11154
CPD-352
CPD000059126
Climaderm
Climara
Climara (TN)
Climara Forte
Compudose
Compudose 200
Compudose 365
Corpagen
D-3,17beta-Estradiol
D-Estradiol
D-Oestradiol
D00105
DB00783
Dermestril
Destradiol
Dihydro-Theelin
Dihydrofollicular hormone
Dihydrofolliculin
Dihydromenformon
Dihydrotheelin
Dihydroxyesterin
Dihydroxyestrin
Dihydroxyoestrin
Dimenformon
Diogyn
Diogynets
Divigel
Divigel (TN)
E 2
E 8875
E(sub 2)
E0025
E1024_SIGMA
E1132_SIGMA
E2257_SIGMA
E2758_SIGMA
E8875_SIGMA
EINECS 200-023-8
EU-0100503
Elestrin
Encore
Epiestriol 50
Esclim
Estra-1,3,5(10)-triene-3,17b-diol
Estrace
Estrace (TN)
Estraderm
Estraderm (TN)
Estraderm MX
Estraderm TTS
Estraderm TTS 100
Estraderm TTS 50
Estradiol
Estradiol [USAN:INN]
Estradiol-17 beta
Estradiol-17-beta
Estradiol-17.beta.
Estradiol-17beta
Estradiol-3,17beta
Estradiolo
Estradiolo [DCIT]
Estradiolum
Estradiolum [INN]
Estradot
Estraldine
Estrapak 50
Estrasorb
Estrasorb (TN)
Estreva
Estrifam
Estring
Estring (TN)
Estring Vaginal Ring
Estring vaginal ring
Estroclim
Estroclim 50
Estrodiolum
Estrofem 2
Estrofem Forte
Estrogel
 
Estrogel (TN)
Estrogel HBF
Estrovite
Evamist
Evorel
Extrasorb
Femanest
Femestral
Femestrol
Femogen
Fempatch
Femtrace
Femtran
Follicyclin
Gelestra
Ginedisc
Ginosedol
GynPolar
Gynergon
Gynestrel
Gynodiol
Gynoestryl
HMS1362E07
HMS1569I04
HMS1792E07
HMS1990E07
HMS2051C17
HMS2090E18
HSDB 3589
IDI1_002118
Innofem
Innofem (TN)
KBio2_000405
KBio2_002269
KBio2_002973
KBio2_004837
KBio2_005541
KBio2_007405
KBio3_000769
KBio3_000770
KBio3_002749
KBioGR_000405
KBioGR_002269
KBioSS_000405
KBioSS_002270
LMST02010001
LS-137
Lamdiol
Lio-Oid
Lopac0_000503
MLS000069494
MLS000758312
MLS001076331
Macrodiol
Macrol
Menest
Menorest
Menostar
Microdiol
MolPort-001-794-632
NCGC00091544-00
NCGC00091544-01
NCGC00091544-02
NCGC00091544-04
NCGC00091544-05
NCGC00091544-06
NCGC00091544-07
NCGC00091544-08
NCGC00091544-09
NCGC00091544-12
NCGC00179321-01
NCGC00179321-02
NSC-9895
NSC9895
Nordicol
Oesclim
Oestergon
Oestra-1,3,5(10)-triene-3,17b-diol
Oestradiol
Oestradiol Berco
Oestradiol R
Oestradiol-17-beta
Oestradiol-17.beta.
Oestradiol-17beta
Oestradiolum
Oestrogel
Oestroglandol
Oestrogynal
Ovahormon
Ovasterol
Ovastevol
Ovociclina
Ovocyclin
Ovocycline
Ovocylin
Perlatanol
Polyestradiol
Prestwick0_000441
Prestwick1_000441
Prestwick2_000441
Prestwick3_000441
Prestwick_207
Primofol
Profoliol
Profoliol B
Progynon
Progynon DH
Progynon-DH
S-21400
S1709_Selleck
SAM001247032
SK-Estrogens
SL-1100
SMP1_000121
SMR000059126
SPBio_002421
Sandrena 1
Sandrena Gel
Sisare Gel
Spectrum5_002055
Syndiol
Systen
Tradelia
Trial SAT
Trocosone
UNII-4TI98Z838E
VIVELLE-DOT
Vagifem
Vagifem (TN)
Vivelle
Vivelle (TN)
Zerella
Zesteem
Zesteen
Zumenon
[2,4,6,7-3H]-E2
[3H]-estradiol
[3H]]estradiol
b-Estradiol
beta-Estradiol
beta-Estradiol 3-sulfate
beta-Estradiol 3-sulphate
bmse000642
cMAP_000005
cis-Estradiol
cis-Oestradiol
component of Menrium
delta-Estradiol
delta-Oestradiol
estradiol
estradiol-17beta
nchembio.168-comp3
nchembio.76-comp2
nchembio775-comp2
nchembio794-comp6
nchembio860-comp1
progynon
36
Moxifloxacinapproved, investigationalPhase 1427354812-41-2, 151096-09-2152946
Synonyms:
(1'S,6'S)-1-Cyclopropyl-7-(2,8-diazabicyclo[4.3.0]non-8-yl)-6-fluoro-8-methoxy-4-oxo-1,4-dihydroquinoline-3-carboxylic acid
1-Cyclopropyl-6-fluoro-1,4-dihydro-8-methoxy-7-((4aS,7aS)-octahydro-6H-pyrrolo(3,4-b)pyridin-6-yl)-4-oxo-3-quinolinecarboxylic acid
1-Cyclopropyl-6-fluoro-1,4-dihydro-8-methoxy-7-((4as,7as)-octahydro-6H-pyrrolo(3,4-b)pyridin-6-yl)-4-oxo-3-quinolinecarboxylic acid
151096-09-2
186826-86-8
192927-63-2
7-[(4aS,7aS)-1,2,3,4,4a,5,7,7a-octahydropyrrolo[3,4-b]pyridin-6-yl]-1-cyclopropyl-6-fluoro-8-methoxy-4-oxoquinoline-3-carboxylic acid
AC1L49EP
Actira (*Hydrochloride*)
Avelox
Avelox (*Hydrochloride*)
Avelox I.V.
BAY 12-8039
 
BAY 12-8039 (*Hydrochloride*)
CCRIS 8690
CHEMBL32
CID152946
DB00218
I06-1961
LS-141510
MFX
MXF
MXFX
Moxifloxacin [INN:BAN]
UNII-U188XYD42P
Vigamox
moxifloxacin
37Norgestimate, ethinyl estradiol drug combinationPhase 1429
38Anti-Bacterial AgentsPhase 110884
39Nucleic Acid Synthesis InhibitorsPhase 14855
40Polyestradiol phosphatePhase 11283
41Contraceptives, Oral, CombinedPhase 1625
42Anti-Infective AgentsPhase 121402
43Topoisomerase InhibitorsPhase 14945
44FluoroquinolonesPhase 1388
45Contraceptives, OralPhase 11292
46Estradiol 3-benzoatePhase 11283
47Estradiol 17 beta-cypionatePhase 11283
48Estradiol valeratePhase 11283979-32-8
49Contraceptive AgentsPhase 11901
50
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

(show top 50)    (show all 72)
idNameStatusNCT IDPhase
1Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing PeriodCompletedNCT01082328Phase 4
2Antioxidant Signature in Adult Patients With PhenylketonuriaCompletedNCT02212288Phase 4
3Effects of Kuvan on Melatonin SecretionCompletedNCT01617070Phase 4
4Kuvan®'s Effect on the Cognition of Children With PhenylketonuriaActive, not recruitingNCT01965912Phase 4
5The Effectiveness of Kuvan in Amish PKU PatientsNot yet recruitingNCT02677870Phase 4
6Phase 3 Open-label Study to Evaluate the Response and Safety of Kuvan® in Subjects With PhenylketonuriaCompletedNCT01732471Phase 3
7Study of Phenoptin in Subjects With Phenylketonuria Who Participated in Protocols PKU-004 or PKU-006CompletedNCT00332189Phase 3
8Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine LevelsCompletedNCT00104247Phase 3
9Safety and Therapeutic Effects of Sapropterin Dihydrochloride on Neuropsychiatric Symptoms in Phenylketonuria (PKU) PatientsCompletedNCT01114737Phase 3
10Study of Phenoptin to Increase Phenylalanine Tolerance in Phenylketonuric Children on a Phenylalanine-restricted DietCompletedNCT00272792Phase 3
11A Phase 3, Multicenter, Open-Label Extension Study of Phenoptin in Subjects With PKU Who Have Elevated Phenylalanine LevelsCompletedNCT00225615Phase 3
12An Open-Label Phase 3 Study of BMN 165 for Adults With PKU Not Previously Treated w/ BMN 165CompletedNCT01819727Phase 3
13Kuvan® in Phenylketonuria Patients Less Than 4 Years OldActive, not recruitingNCT01376908Phase 3
14Effect of Kuvan on Neurocognitive Function, Blood Phenylalanine Level, Safety, and Pharmacokinetics in Children With PKUActive, not recruitingNCT00838435Phase 3
15Phase 3 Study to Evaluate the Efficacy & Safety of Self-Administered Injections of BMN165 by Adults With PKUActive, not recruitingNCT01889862Phase 3
16Long-Term Tetrahydrobiopterin Treatment in PKU Patients of 0-18 Years - Study on Phenylalanine Tolerance and SafetyTerminatedNCT00432822Phase 2, Phase 3
17The Effects of Sapropterin Dihydrochloride Supplementation on in Vivo Redox Status in Patients With Classical PKUWithdrawnNCT01650909Phase 3
18Study to Evaluate the Response to and Safety of an 8-Day Course of Phenoptin™ Treatment in Subjects With PhenylketonuriaCompletedNCT00104260Phase 2
19Safety, Tolerability, and Efficacy Study of rAvPAL-PEG Administered Daily in Subjects With Phenylketonuria (PKU)CompletedNCT01212744Phase 2
20Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of PhenylketonuriaCompletedNCT01428258Phase 2
21A Study to Evaluate Subcutaneously Administered rAvPAL-PEG in Patients With Phenylketonuria for 24 WeeksCompletedNCT01560286Phase 2
22Dose-Finding Study to Evaluate the Safety, Efficacy, & Tolerability of Multiple Doses of rAvPAL-PEG in Subjects With PKUCompletedNCT00925054Phase 2
23Study of BH4, a New and Simple Treatment of Mild PKUCompletedNCT00260000Phase 2
24Safety and Efficacy Study of Phenoptin in Subjects With Hyperphenylalaninemia Due to BH4 DeficiencyCompletedNCT00355264Phase 2
25Neurovascular Transduction During Exercise in Chronic Kidney DiseaseRecruitingNCT02947750Phase 2
26Long-Term Extension of Previous rAvPAL-PEG Protocols in Subjects With PKU (PAL-003)Active, not recruitingNCT00924703Phase 2
27Liver Cell Transplant for PhenylketonuriaSuspendedNCT01465100Phase 1, Phase 2
28Phenylketonuria, Oxidative Stress, and BH4TerminatedNCT01395394Phase 2
29Sapropterin on Cognitive Abilities in Young Adults With PhenylketonuriaTerminatedNCT01977820Phase 2
30Response to Phenylketonuria to Tetrahydrobiopterin (BH4)Unknown statusNCT00244218Phase 1
31Safety and Tolerability Study of rAvPAL-PEG to Treat PhenylketonuriaCompletedNCT00634660Phase 1
32A Phase 1 Study to Evaluate Effects of Sapropterin Dihydrochloride on QTc Intervals in Healthy Adult SubjectsCompletedNCT00789568Phase 1
33Sapropterin in Individuals With PhenylketonuriaUnknown statusNCT00730080
34Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan ResponseUnknown statusNCT00841100
35Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan NonrespondersUnknown statusNCT01274026
36Sapropterin Expanded Access ProgramApproved for marketingNCT00484991
37Impact of Phenylketonuria-type Diet on Appetite, Appetite Hormones and Diet Induced ThermogenesisCompletedNCT02440932
38Quantitative Requirements of Docosahexaenoic Acid for Neural Function in Children With PhenylketonuriaCompletedNCT00909012
39Protein Requirements in Children With Phenylketonuria (PKU)CompletedNCT01965691
40The Brain, Neurological Features and Neuropsychological Functioning in Adults With Phenylketonuria: A Pilot StudyCompletedNCT01917344
41Low Phenylalanine Diet for Mothers With Phenylketonuria (PKU)CompletedNCT00065299
42Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive BehaviorsCompletedNCT00728676
43Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN TherapyCompletedNCT00986973
44The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)CompletedNCT00964236
45Phenylketonuria and Hyperphenylalaninemia Nutrition StudyCompletedNCT01879995
46Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With PhenylketonuriaCompletedNCT01659749
47The Effect of Supplemental Docosahexaenoic Acid (DHA) on Neurocognitive Outcomes in Teen and Adult Women With Phenylketonuria(PKU)CompletedNCT00892554
48Simple Breath Test to Examine Phenylalanine MetabolismCompletedNCT02009904Early Phase 1
49Study of a Phenylalanine Restricted Diet During Pregnancy to Prevent Symptoms in Offspring of Patients With PhenylketonuriaCompletedNCT00006142
50Nutritional and Neurotransmitter Changes in PKU Subjects on BH4CompletedNCT00688844

Search NIH Clinical Center for Phenylketonuria

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Phenylketonuria cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Phenylketonuria:
Hepatocyte transplantation for treatment of liver disorders
Embryonic/Adult Cultured Cells Related to Phenylketonuria:
Hepatocytes, PMIDs: 15239608, 12777539, 9580649, 22789058, 22167636


Cochrane evidence based reviews: phenylketonuria, maternal

Genetic Tests for Phenylketonuria

About this section

Genetic tests related to Phenylketonuria:

id Genetic test Affiliating Genes
1 Phenylketonuria27 24
2 Phenylalanine Hydroxylase Deficiency24 PAH

Anatomical Context for Phenylketonuria

About this section

MalaCards organs/tissues related to Phenylketonuria:

36
Brain, Testes, Skin, Heart, Bone, Liver, Kidney

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Phenylketonuria:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Publications for Phenylketonuria

About this section

Articles related to Phenylketonuria:

(show top 50)    (show all 891)
idTitleAuthorsYear
1
Key European guidelines for the diagnosis and management of patients with phenylketonuria. (28082082)
2017
2
50 Years Ago in The Journal of Pediatrics: Conference on Treatment of Phenylketonuria. (28010791)
2017
3
Cognitive Outcomes in Early-Treated Adults With Phenylketonuria (PKU): A Comprehensive Picture Across Domains. (28080075)
2017
4
The Indicator Amino Acid Oxidation Method with the Use of l-[1-13C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria. (28053173)
2017
5
The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background. (28066199)
2016
6
Challenges of Implementation of the National Phenylketonuria Screening Program in Iran: A Qualitative Study. (27957302)
2016
7
Nutritional status of patients with phenylketonuria in Japan. (27595068)
2016
8
Phenylketonuria screening in the Republic of Macedonia. (27496147)
2016
9
Phenylketonuria (PKU): A problem solved? (27014571)
2016
10
Relationship between age and white matter integrity in children with phenylketonuria. (27114916)
2016
11
Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria. (27450369)
2016
12
Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria. (27121329)
2016
13
Evaluation of trace element and mineral status and related to levels of amino acid in children with phenylketonuria. (27348726)
2016
14
Biochemical analysis of Centaurea depressa phenylalanine ammonia lyase (PAL) for biotechnological applications in phenylketonuria (PKU). (27246528)
2016
15
Analysis of body composition and nutritional status in Brazilian phenylketonuria patients. (27014574)
2016
16
Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters. (27513937)
2016
17
The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism. (27830119)
2016
18
A Specific Nutrient Combination Attenuates the Reduced Expression of PSD-95 in the Proximal Dendrites of Hippocampal Cell Body Layers in a Mouse Model of Phenylketonuria. (27102170)
2016
19
Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder. (27922243)
2016
20
Phenylketonuria is not a risk factor for changes of inflammation status as assessed by interleukin 6 and interleukin 8 concentrations. (28071012)
2016
21
Household financial burden of phenylketonuria and its impact on treatment in China: a cross-sectional study. (27832415)
2016
22
One too many: intellectual disability secondary to undiagnosed phenylketonuria. (27738300)
2016
23
The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014. (27469133)
2016
24
Prooxidant-antioxidant balance in patients with phenylketonuria and its correlation to biochemical and hematological parameters. (27008692)
2016
25
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model. (27786189)
2016
26
Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids. (27623981)
2016
27
Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria. (27269713)
2016
28
I Feel Lucky" - Gratitude Among Young Adults with Phenylketonuria (PKU). (26888542)
2016
29
Analysis of the functional muscle-bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography. (27878409)
2016
30
Dietary glycemic index, glycemic load and metabolic profile in children with phenylketonuria. (28081989)
2016
31
Genetics of Phenylketonuria: Then and Now. (26919687)
2016
32
Demethylation of the promoter region of GPX3 in a newborn with classical phenylketonuria. (27742442)
2016
33
Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria. (27805419)
2016
34
Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial. (27413125)
2016
35
Inhibition of Fibrillar Assemblies of l-Phenylalanine by Crown Ethers: A Potential Approach toward Phenylketonuria. (27403653)
2016
36
Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria. (26947918)
2016
37
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride. (27898272)
2016
38
Protein substitutes for phenylketonuria in Europe: access and nutritional composition. (27117930)
2016
39
Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study. (27169416)
2016
40
Therapeutic brain modulation with targeted large neutral amino acid supplements in the Pah-enu2 phenylketonuria mouse model. (27655443)
2016
41
Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing. (27336782)
2016
42
Is Propofol Safe in Patients With Phenylketonuria? (28027068)
2016
43
A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria. (27300702)
2016
44
The Use of Glycomacropeptide in Dietary Management of Phenylketonuria. (27313877)
2016
45
Phenylketonuria patients' and their parents' acceptance of the disease: multi-centre study. (27245777)
2016
46
Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study. (26914933)
2016
47
Phenylketonuria: Direct and indirect effects of phenylalanine. (27091224)
2016
48
Ten years of specialized adult care for phenylketonuria - a single-centre experience. (27008844)
2016
49
Successful Linkage Analysis in Classical Phenylketonuria Families Followed by Direct Sequencing and Mutation Detection. (27156318)
2016
50
An Efficient Trio-Based Mini-Haplotyping Method for Genetic Diagnosis of Phenylketonuria. (27540528)
2016

Variations for Phenylketonuria

About this section

UniProtKB/Swiss-Prot genetic disease variations for Phenylketonuria:

70 (show all 206)
id Symbol AA change Variation ID SNP ID
1PAHp.Ser16ProVAR_000869rs62642946
2PAHp.Phe39LeuVAR_000870rs62642926
3PAHp.Ser40LeuVAR_000872rs62642938
4PAHp.Leu41PheVAR_000873rs62642928
5PAHp.Lys42IleVAR_000874rs62635346
6PAHp.Gly46SerVAR_000875rs74603784
7PAHp.Ala47ValVAR_000876rs118203925
8PAHp.Leu48SerVAR_000877rs5030841
9PAHp.Arg53HisVAR_000878rs118092776
10PAHp.Phe55LeuVAR_000879rs199475598
11PAHp.Glu56AspVAR_000880rs199475567
12PAHp.Ile65AsnVAR_000882rs75193786
13PAHp.Ile65ThrVAR_000883rs75193786
14PAHp.Ser67ProVAR_000884rs5030842
15PAHp.Arg68SerVAR_000885rs76394784
16PAHp.Glu76AlaVAR_000886rs62507347
17PAHp.Asp84TyrVAR_000887rs62514902
18PAHp.Ser87ArgVAR_000888rs62516151
19PAHp.Thr92IleVAR_000889rs62514903
20PAHp.Leu98SerVAR_000891rs62517167
21PAHp.Ala104AspVAR_000892rs62642929
22PAHp.Thr124IleVAR_000893rs199475571
23PAHp.Asp129TyrVAR_000894rs199475606
24PAHp.Asp143GlyVAR_000895rs199475572
25PAHp.His146TyrVAR_000896rs199475599
26PAHp.Gly148SerVAR_000897rs80297647
27PAHp.Asp151HisVAR_000898rs199475597
28PAHp.Tyr154AsnVAR_000899rs199475587
29PAHp.Arg157AsnVAR_000900
30PAHp.Arg158GlnVAR_000901rs5030843
31PAHp.Arg158TrpVAR_000902rs75166491
32PAHp.Gln160ProVAR_000903rs199475601
33PAHp.Phe161SerVAR_000904rs79635844
34PAHp.Ile164ThrVAR_000905rs199475595
35PAHp.Asn167IleVAR_000906rs77554925
36PAHp.His170ArgVAR_000907rs199475573
37PAHp.Gly171AlaVAR_000908rs199475596
38PAHp.Gly171ArgVAR_000909rs199475613
39PAHp.Pro173ThrVAR_000910rs199475574
40PAHp.Ile174ThrVAR_000911rs138809906
41PAHp.Pro175AlaVAR_000912rs199475604
42PAHp.Arg176LeuVAR_000913rs74486803
43PAHp.Arg176ProVAR_000914rs74486803
44PAHp.Val177LeuVAR_000915rs199475602
45PAHp.Glu178GlyVAR_000916rs77958223
46PAHp.Val190AlaVAR_000917rs62514919
47PAHp.Leu194ProVAR_000918rs5030844
48PAHp.His201ArgVAR_000922rs62517180
49PAHp.His201TyrVAR_000923rs62517205
50PAHp.Tyr204CysVAR_000924rs62514927
51PAHp.Tyr206AspVAR_000925rs62517170
52PAHp.Asn207AspVAR_000926rs62508572
53PAHp.Asn207SerVAR_000927rs62508721
54PAHp.Pro211ThrVAR_000928rs62514931
55PAHp.Leu212ProVAR_000929rs62517198
56PAHp.Leu213ProVAR_000930rs62516109
57PAHp.Cys217GlyVAR_000931rs62508718
58PAHp.Gly218ValVAR_000932rs62514933
59PAHp.Glu221GlyVAR_000933rs62514934
60PAHp.Asp222ValVAR_000934rs62507319
61PAHp.Ile224MetVAR_000935rs199475576
62PAHp.Pro225ArgVAR_000936rs62517204
63PAHp.Pro225ThrVAR_000937rs199475589
64PAHp.Val230IleVAR_000938rs62516152
65PAHp.Ser231ProVAR_000939rs5030845
66PAHp.Phe233LeuVAR_000940rs62517208
67PAHp.Thr238ProVAR_000941rs199475577
68PAHp.Gly239SerVAR_000942rs62517178
69PAHp.Arg241CysVAR_000943rs76687508
70PAHp.Arg241HisVAR_000944rs62508730
71PAHp.Arg241LeuVAR_000945rs62508730
72PAHp.Leu242PheVAR_000946rs199475578
73PAHp.Arg243GlnVAR_000947rs62508588
74PAHp.Pro244LeuVAR_000948rs118203923
75PAHp.Val245AlaVAR_000949rs796052017
76PAHp.Val245GluVAR_000950rs76212747
77PAHp.Val245LeuVAR_000951rs62508694
78PAHp.Ala246AspVAR_000952rs199475610
79PAHp.Gly247ValVAR_000953rs199475579
80PAHp.Leu248ProVAR_000954rs62507340
81PAHp.Leu249PheVAR_000955rs74503222
82PAHp.Arg252GlyVAR_000956rs5030847
83PAHp.Arg252GlnVAR_000957rs62644503
84PAHp.Arg252TrpVAR_000958rs5030847
85PAHp.Leu255ValVAR_000959rs62642931
86PAHp.Leu255SerVAR_000960rs62642930
87PAHp.Gly257CysVAR_000961rs5030848
88PAHp.Ala259ThrVAR_000962rs62642932
89PAHp.Ala259ValVAR_000963rs118203921
90PAHp.Arg261ProVAR_000964rs5030849
91PAHp.Arg261GlnVAR_000965rs5030849
92PAHp.Phe263LeuVAR_000966rs62642944
93PAHp.His264LeuVAR_000967rs199475580
94PAHp.Cys265GlyVAR_000968rs62517181
95PAHp.Ile269LeuVAR_000969rs62508692
96PAHp.Arg270LysVAR_000970rs62514950
97PAHp.Arg270SerVAR_000971rs62514951
98PAHp.His271TyrVAR_000972rs62517164
99PAHp.Ser273PheVAR_000973rs62514953
100PAHp.Met276IleVAR_000974rs62514954
101PAHp.Met276ValVAR_000975rs62516149
102PAHp.Tyr277CysVAR_000976rs62516155
103PAHp.Tyr277AspVAR_000977rs78655458
104PAHp.Thr278AlaVAR_000978rs62516156
105PAHp.Thr278AsnVAR_000979rs62507262
106PAHp.Glu280LysVAR_000980rs62508698
107PAHp.Pro281LeuVAR_000981rs5030851
108PAHp.Asp282AsnVAR_000982rs199475582
109PAHp.Ile283PheVAR_000983rs62517168
110PAHp.Ile283AsnVAR_000984rs62508693
111PAHp.Arg297CysVAR_000985rs62642945
112PAHp.Arg297HisVAR_000986rs62642939
113PAHp.Phe299CysVAR_000987rs62642933
114PAHp.Ala300SerVAR_000988rs5030853
115PAHp.Ala300ValVAR_000989rs199475609
116PAHp.Ser303ProVAR_000990rs199475608
117PAHp.Gln304ArgVAR_000991rs199475592
118PAHp.Ile306ValVAR_000992rs62642934
119PAHp.Ala309AspVAR_000993rs62642935
120PAHp.Ala309ValVAR_000994rs62642935
121PAHp.Ser310PheVAR_000995rs62642913
122PAHp.Leu311ProVAR_000996rs62642936
123PAHp.Pro314HisVAR_000997rs62642940
124PAHp.Ala322GlyVAR_000998rs62514958
125PAHp.Ala322ThrVAR_000999rs62514957
126PAHp.Phe331LeuVAR_001000rs62517179
127PAHp.Leu333PheVAR_001001rs62516060
128PAHp.Cys334SerVAR_001002rs62517174
129PAHp.Gly337ValVAR_001003rs62517206
130PAHp.Asp338TyrVAR_001004rs62516150
131PAHp.Lys341ArgVAR_001005rs62516153
132PAHp.Lys341ThrVAR_001006rs62516153
133PAHp.Ala342ThrVAR_001007rs62507282
134PAHp.Tyr343CysVAR_001008rs62507265
135PAHp.Ala345SerVAR_001009rs62516062
136PAHp.Ala345ThrVAR_001010rs62516062
137PAHp.Leu347PheVAR_001011rs62516154
138PAHp.Leu348ValVAR_001012rs62516092
139PAHp.Ser349LeuVAR_001013rs62507279
140PAHp.Ser349ProVAR_001014rs62508646
141PAHp.Ser350ThrVAR_001015rs62517183
142PAHp.Pro362ThrVAR_001016rs62507329
143PAHp.Pro366HisVAR_001019rs62516098
144PAHp.Thr372SerVAR_001020rs62517163
145PAHp.Tyr377CysVAR_001021rs62642942
146PAHp.Thr380MetVAR_001022rs62642937
147PAHp.Tyr386CysVAR_001023rs62516141
148PAHp.Tyr387HisVAR_001024rs62517194
149PAHp.Val388LeuVAR_001025rs62516101
150PAHp.Val388MetVAR_001026rs62516101
151PAHp.Glu390GlyVAR_001027rs5030856
152PAHp.Asp394AlaVAR_001028rs62516102
153PAHp.Asp394HisVAR_001029rs62516142
154PAHp.Ala395GlyVAR_001030rs62508736
155PAHp.Ala395ProVAR_001031rs62516103
156PAHp.Ala403ValVAR_001033rs5030857
157PAHp.Arg408GlnVAR_001034rs5030859
158PAHp.Arg408TrpVAR_001035rs5030858
159PAHp.Arg413ProVAR_001036rs79931499
160PAHp.Arg413SerVAR_001037rs62644467
161PAHp.Tyr414CysVAR_001038rs5030860
162PAHp.Asp415AsnVAR_001039rs62644499
163PAHp.Thr418ProVAR_001040rs62644501
164PAHp.Leu430ProVAR_001041rs199475607
165PAHp.Ala447AspVAR_001042rs76542238
166PAHp.Gln20LeuVAR_009239rs199475662
167PAHp.Leu41ProVAR_009240rs62642916
168PAHp.Ser110CysVAR_009241
169PAHp.Arg155ProVAR_009242rs199475663
170PAHp.Glu183GlnVAR_009243rs199475664
171PAHp.Ser231PheVAR_009244rs62508577
172PAHp.Tyr325CysVAR_009245rs62508578
173PAHp.Glu330AspVAR_009246rs62508580
174PAHp.Gly344ArgVAR_009247rs62508679
175PAHp.Gly344ValVAR_009248rs62508582
176PAHp.Phe410SerVAR_009249rs62644475
177PAHp.Asp145ValVAR_011566rs140175796
178PAHp.Asn167SerVAR_011567rs77554925
179PAHp.Arg169HisVAR_011568rs199475679
180PAHp.His170AspVAR_011569rs199475655
181PAHp.Ile174ValVAR_011570rs199475632
182PAHp.Glu205AlaVAR_011571rs62508593
183PAHp.Phe240SerVAR_011572rs62508594
184PAHp.Ile318ThrVAR_011574rs62642918
185PAHp.Cys357GlyVAR_011575rs62508595
186PAHp.Pro407SerVAR_011576rs62644465
187PAHp.His290TyrVAR_067758
188PAHp.Ala322ValVAR_067759
189PAHp.Ile421SerVAR_067760
190PAHp.Val45AlaVAR_067994
191PAHp.Asn61AspVAR_067995rs199475651
192PAHp.Leu62ProVAR_067996
193PAHp.Ile65SerVAR_067997rs75193786
194PAHp.Ile65ValVAR_067998rs199475643
195PAHp.Glu76GlyVAR_067999rs62507347
196PAHp.Arg157SerVAR_068000rs199475612
197PAHp.His170GlnVAR_068001rs199475652
198PAHp.Val177MetVAR_068002rs199475602
199PAHp.Gln226HisVAR_068003rs62508615
200PAHp.Pro275LeuVAR_068004rs62508715
201PAHp.Ser310TyrVAR_068005rs62642913
202PAHp.Pro314SerVAR_068006rs199475650
203PAHp.Pro407LeuVAR_068007rs62644473
204PAHp.Tyr417HisVAR_068008rs62644471
205PAHp.Phe121LeuVAR_069776
206PAHp.Ser196TyrVAR_069777

Clinvar genetic disease variations for Phenylketonuria:

5 (show all 188)
id Gene Variation Type Significance SNP ID Assembly Location
1PAHNM_000277.1(PAH): c.1024delG (p.Ala342Hisfs)deletionPathogenicrs63581460GRCh37Chr 12, 103238155: 103238155
2PAHNM_000277.1(PAH): c.1055delG (p.Gly352Valfs)deletionPathogenicrs62516094GRCh37Chr 12, 103238124: 103238124
3PAHNM_000277.1(PAH): c.1065+1G> ASNVPathogenicrs62516147GRCh37Chr 12, 103238113: 103238113
4PAHNM_000277.1(PAH): c.1089delG (p.Lys363Asnfs)deletionLikely pathogenicrs5030654GRCh37Chr 12, 103237534: 103237534
5PAHNM_000277.1(PAH): c.1114A> T (p.Thr372Ser)SNVLikely pathogenicrs62517163GRCh37Chr 12, 103237509: 103237509
6PAHNM_000277.1(PAH): c.1157A> G (p.Tyr386Cys)SNVLikely pathogenic, Pathogenicrs62516141GRCh37Chr 12, 103237466: 103237466
7PAHNM_000277.1(PAH): c.1184C> G (p.Ala395Gly)SNVLikely pathogenic, Pathogenicrs62508736GRCh37Chr 12, 103237439: 103237439
8PAHNM_000277.1(PAH): c.1199+17G> ASNVLikely pathogenicrs62508613GRCh37Chr 12, 103237407: 103237407
9PAHNM_000277.1(PAH): c.1199+1G> CSNVLikely pathogenic, Pathogenicrs62509015GRCh37Chr 12, 103237423: 103237423
10PAHNM_000277.1(PAH): c.1301C> A (p.Ala434Asp)SNVLikely pathogenicrs199475659GRCh37Chr 12, 103234192: 103234192
11PAHNM_000277.1(PAH): c.1315+2T> CSNVLikely pathogenicrs1799970GRCh37Chr 12, 103234176: 103234176
12PAHNM_000277.1(PAH): c.1355dupA (p.Ter453Valfs)duplicationLikely pathogenicrs199475641GRCh37Chr 12, 103232957: 103232957
13PAHNM_000277.1(PAH): c.168+1G> ASNVLikely pathogenicrs62514898GRCh37Chr 12, 103306568: 103306568
14PAHNM_000277.1(PAH): c.168+5G> CSNVPathogenicrs62507288GRCh37Chr 12, 103306564: 103306564
15PAHNM_000277.1(PAH): c.208_210delTCT (p.Ser70del)deletionPathogenicrs62642094GRCh37Chr 12, 103288655: 103288657
16PAHNM_000277.1(PAH): c.250G> T (p.Asp84Tyr)SNVPathogenicrs62514902GRCh37Chr 12, 103288615: 103288615
17PAHNM_000277.1(PAH): c.311C> A (p.Ala104Asp)SNVPathogenicrs62642929GRCh37Chr 12, 103288554: 103288554
18PAHNM_000277.1(PAH): c.400C> T (p.Gln134Ter)SNVLikely pathogenicrs199475680GRCh37Chr 12, 103271281: 103271281
19PAHNM_000277.1(PAH): c.441+1G> ASNVLikely pathogenic, Pathogenicrs62517166GRCh37Chr 12, 103271239: 103271239
20PAHNM_000277.1(PAH): c.472C> T (p.Arg158Trp)SNVPathogenicrs75166491GRCh37Chr 12, 103260411: 103260411
21PAHNM_000277.1(PAH): c.47_48delCT (p.Ser16Terfs)deletionLikely pathogenic, Pathogenicrs62642906GRCh37Chr 12, 103310861: 103310862
22PAHNM_000277.1(PAH): c.503delA (p.Tyr168Serfs)deletionPathogenicrs199475661GRCh37Chr 12, 103260380: 103260380
23PAHNM_000277.1(PAH): c.526C> T (p.Arg176Ter)SNVPathogenicrs199475575GRCh37Chr 12, 103249094: 103249094
24PAHNM_000277.1(PAH): c.558_559delAT (p.Trp187Glyfs)deletionLikely pathogenicrs62517207GRCh37Chr 12, 103249061: 103249062
25PAHNM_000277.1(PAH): c.561G> A (p.Trp187Ter)SNVLikely pathogenicrs62507336GRCh37Chr 12, 103249059: 103249059
26PAHNM_000277.1(PAH): c.580_581delCT (p.Leu194Glufs)deletionLikely pathogenicrs62508587GRCh37Chr 12, 103249039: 103249040
27PAHNM_000277.1(PAH): c.581T> C (p.Leu194Pro)SNVLikely pathogenicrs5030844GRCh37Chr 12, 103249039: 103249039
28PAHNM_000277.1(PAH): c.58C> T (p.Gln20Ter)SNVLikely pathogenicrs199475585GRCh37Chr 12, 103310851: 103310851
29PAHNM_000277.1(PAH): c.60+5G> TSNVPathogenicrs62514895GRCh37Chr 12, 103310844: 103310844
30PAHNM_000277.1(PAH): c.631C> A (p.Pro211Thr)SNVLikely pathogenicrs62514931GRCh37Chr 12, 103248989: 103248989
31PAHNM_000277.1(PAH): c.632delC (p.Pro211Hisfs)deletionPathogenicrs62514929GRCh37Chr 12, 103248988: 103248988
32PAHNM_000277.1(PAH): c.648C> G (p.Tyr216Ter)SNVPathogenicrs62509013GRCh37Chr 12, 103248972: 103248972
33PAHNM_000277.1(PAH): c.688G> A (p.Val230Ile)SNVLikely pathogenic, Pathogenicrs62516152GRCh37Chr 12, 103248932: 103248932
34PAHNM_000277.1(PAH): c.691T> C (p.Ser231Pro)SNVPathogenicrs5030845GRCh37Chr 12, 103248929: 103248929
35PAHNM_000277.1(PAH): c.694C> T (p.Gln232Ter)SNVLikely pathogenicrs62507348GRCh37Chr 12, 103248926: 103248926
36PAHNM_000277.1(PAH): c.721C> T (p.Arg241Cys)SNVPathogenicrs76687508GRCh37Chr 12, 103246714: 103246714
37PAHNM_000277.1(PAH): c.722delG (p.Arg241Profs)deletionLikely pathogenicrs199475657GRCh37Chr 12, 103246713: 103246713
38PAHNM_000277.1(PAH): c.724C> T (p.Leu242Phe)SNVLikely pathogenicrs199475578GRCh37Chr 12, 103246711: 103246711
39PAHNM_000277.1(PAH): c.733G> C (p.Val245Leu)SNVPathogenicrs62508694GRCh37Chr 12, 103246702: 103246702
40PAHNM_000277.1(PAH): c.740G> T (p.Gly247Val)SNVLikely pathogenicrs199475579GRCh37Chr 12, 103246695: 103246695
41PAHNM_000277.1(PAH): c.745C> T (p.Leu249Phe)SNVPathogenicrs74503222GRCh37Chr 12, 103246690: 103246690
42PAHNM_000277.1(PAH): c.755G> A (p.Arg252Gln)SNVPathogenicrs62644503GRCh37Chr 12, 103246680: 103246680
43PAHNM_000277.1(PAH): c.775G> A (p.Ala259Thr)SNVLikely pathogenicrs62642932GRCh37Chr 12, 103246660: 103246660
44PAHNM_000277.1(PAH): c.782G> C (p.Arg261Pro)SNVLikely pathogenicrs5030849GRCh37Chr 12, 103246653: 103246653
45PAHNM_000277.1(PAH): c.805A> C (p.Ile269Leu)SNVPathogenicrs62508692GRCh37Chr 12, 103246630: 103246630
46PAHNM_000277.1(PAH): c.806delT (p.Ile269Thrfs)deletionLikely pathogenic, Pathogenicrs62508687GRCh37Chr 12, 103246629: 103246629
47PAHNM_000277.1(PAH): c.809G> A (p.Arg270Lys)SNVPathogenicrs62514950GRCh37Chr 12, 103246626: 103246626
48PAHNM_000277.1(PAH): c.830A> G (p.Tyr277Cys)SNVLikely pathogenicrs62516155GRCh37Chr 12, 103246605: 103246605
49PAHNM_000277.1(PAH): c.842+5G> ASNVLikely pathogenicrs62516146GRCh37Chr 12, 103246588: 103246588
50PAHNM_000277.1(PAH): c.844G> A (p.Asp282Asn)SNVLikely pathogenicrs199475582GRCh37Chr 12, 103245533: 103245533
51PAHNM_000277.1(PAH): c.847A> T (p.Ile283Phe)SNVLikely pathogenicrs62517168GRCh37Chr 12, 103245530: 103245530
52PAHNM_000277.1(PAH): c.941C> A (p.Pro314His)SNVLikely pathogenicrs62642940GRCh37Chr 12, 103240701: 103240701
53PAHNM_000277.1(PAH): c.975C> G (p.Tyr325Ter)SNVPathogenicrs62508573GRCh37Chr 12, 103238204: 103238204
54PAHNM_000277.1(PAH): c.1004A> C (p.Lys335Thr)SNVLikely pathogenicrs281865434GRCh37Chr 12, 103238175: 103238175
55PAHNM_000277.1(PAH): c.1066-2A> TSNVLikely pathogenicrs281865447GRCh38Chr 12, 102843781: 102843781
56PAHNM_000277.1(PAH): c.1163T> C (p.Val388Ala)SNVLikely pathogenicrs281865435GRCh37Chr 12, 103237460: 103237460
57PAHNM_000277.1(PAH): c.1171A> G (p.Ser391Gly)SNVLikely pathogenicrs281865453GRCh38Chr 12, 102843674: 102843674
58PAHNM_000277.1(PAH): c.1180G> T (p.Asp394Tyr)SNVLikely pathogenicrs62516142GRCh37Chr 12, 103237443: 103237443
59PAHNM_000277.1(PAH): c.1196T> C (p.Val399Ala)SNVLikely pathogenicrs281865436GRCh38Chr 12, 102843649: 102843649
60PAHNM_000277.1(PAH): c.1240T> C (p.Tyr414His)SNVLikely pathogenicrs281865437GRCh38Chr 12, 102840475: 102840475
61PAHNM_000277.1(PAH): c.164T> C (p.Phe55Ser)SNVLikely pathogenicrs281865438GRCh38Chr 12, 102912795: 102912795
62PAHNM_000277.1(PAH): c.169G> T (p.Glu57Ter)SNVLikely pathogenicrs140945592GRCh38Chr 12, 102894918: 102894918
63PAHNM_000277.1(PAH): c.183C> A (p.Asn61Lys)SNVLikely pathogenicrs199475634GRCh37Chr 12, 103288682: 103288682
64PAHNM_000277.1(PAH): c.196G> T (p.Glu66Ter)SNVLikely pathogenicrs281865454GRCh38Chr 12, 102894891: 102894891
65PAHNM_000277.1(PAH): c.205_210dupCCTTCT (p.Ser70_Arg71insProSer)duplicationLikely pathogenicrs281865431GRCh38Chr 12, 102894877: 102894882
66PAHNM_000277.1(PAH): c.284_285delTCinsCA (p.Ile95Thr)indelLikely pathogenicrs281865432GRCh37Chr 12, 103288580: 103288581
67PAHNM_000277.1(PAH): c.350C> T (p.Thr117Ile)SNVLikely pathogenicrs281865439GRCh38Chr 12, 102894737: 102894737
68PAHNM_000277.1(PAH): c.350delC (p.Thr117Lysfs)deletionLikely pathogenicrs281865428GRCh37Chr 12, 103288515: 103288515
69PAHNM_000277.1(PAH): c.441+6T> ASNVLikely pathogenicrs199475698GRCh38Chr 12, 102877456: 102877456
70PAHNM_000277.1(PAH): c.442-2A> CSNVLikely pathogenic, Pathogenicrs281865448GRCh37Chr 12, 103260443: 103260443
71PAHNM_000277.1(PAH): c.504C> A (p.Tyr168Ter)SNVLikely pathogenicrs281865455GRCh38Chr 12, 102866601: 102866601
72PAHNM_000277.1(PAH): c.547_548delGAinsTT (p.Glu183Leu)indelLikely pathogenicrs281865433GRCh37Chr 12, 103249072: 103249073
73PAHNM_000277.1(PAH): c.568G> A (p.Val190Met)SNVLikely pathogenicrs281865441GRCh37Chr 12, 103249052: 103249052
74PAHNM_000277.1(PAH): c.591G> C (p.Leu197Phe)SNVLikely pathogenicrs281865442GRCh38Chr 12, 102855251: 102855251
75PAHNM_000277.1(PAH): c.60+5G> ASNVLikely pathogenicrs62514895GRCh37Chr 12, 103310844: 103310844
76PAHNM_000277.1(PAH): c.632C> T (p.Pro211Leu)SNVLikely pathogenicrs281865443GRCh38Chr 12, 102855210: 102855210
77PAHNM_000277.1(PAH): c.682G> A (p.Glu228Lys)SNVLikely pathogenicrs281865444GRCh38Chr 12, 102855160: 102855160
78PAHNM_000277.1(PAH): c.785T> G (p.Val262Gly)SNVLikely pathogenicrs281865445GRCh38Chr 12, 102852872: 102852872
79PAHNM_000277.1(PAH): c.796A> C (p.Thr266Pro)SNVLikely pathogenicrs62508752GRCh37Chr 12, 103246639: 103246639
80PAHNM_000277.1(PAH): c.812A> T (p.His271Leu)SNVLikely pathogenicrs199475692GRCh38Chr 12, 102852845: 102852845
81PAHNM_000277.1(PAH): c.837delC (p.Glu280Asnfs)deletionLikely pathogenicrs281865429GRCh37Chr 12, 103246598: 103246598
82PAHNM_000277.1(PAH): c.841C> G (p.Pro281Ala)SNVLikely pathogenicrs199475654GRCh38Chr 12, 102852816: 102852816
83PAHNM_000277.1(PAH): c.869A> T (p.His290Leu)SNVLikely pathogenicrs62642919GRCh38Chr 12, 102851730: 102851730
84PAHNM_000277.1(PAH): c.887A> G (p.Asp296Gly)SNVLikely pathogenicrs281865446GRCh38Chr 12, 102851712: 102851712
85PAHNM_000277.1(PAH): c.912+2T> CSNVLikely pathogenicrs281865449GRCh38Chr 12, 102851685: 102851685
86PAHNM_000277.1(PAH): c.912+3A> CSNVLikely pathogenicrs281865450GRCh37Chr 12, 103245462: 103245462
87PAHNM_000277.1(PAH): c.913-3C> GSNVLikely pathogenicrs281865451GRCh38Chr 12, 102846954: 102846954
88PAHNM_000277.1(PAH): c.913-8A> GSNVLikely pathogenicrs281865452GRCh37Chr 12, 103240737: 103240737
89PAHNM_000277.1(PAH): c.916delA (p.Ile306Leufs)deletionLikely pathogenicrs281865456GRCh38Chr 12, 102846948: 102846948
90PAHNM_000277.1(PAH): c.931_932delCT (p.Leu311Glyfs)deletionLikely pathogenicrs281865430GRCh38Chr 12, 102846932: 102846933
91PAHNM_000277.1(PAH): c.970-1G> ASNVLikely pathogenicrs202183605GRCh37Chr 12, 103238210: 103238210
92PAHNM_000277.1(PAH): c.505C> T (p.Arg169Cys)SNVLikely pathogenicrs281865440GRCh38Chr 12, 102866600: 102866600
93PAHNM_000277.1(PAH): c.781C> G (p.Arg261Gly)SNVLikely pathogenicrs5030850GRCh37Chr 12, 103246654: 103246654
94PAHNM_000277.1(PAH): c.664_665delGA (p.Asp222Terfs)deletionLikely pathogenicrs62514936GRCh37Chr 12, 103248955: 103248956
95PAHNM_000277.1(PAH): c.168_168+1delGGinsAAindelLikely pathogenicrs786204457GRCh38Chr 12, 102912790: 102912791
96PAHNM_000277.1(PAH): c.116_118delTCT (p.Phe39del)deletionLikely pathogenic, Pathogenicrs199475565GRCh37Chr 12, 103306619: 103306621
97PAHNM_000277.1(PAH): c.1352_1356delTAAAG (p.Ter453Profs)deletionPathogenicrs794727086GRCh37Chr 12, 103232956: 103232960
98PAHNM_000277.1(PAH): c.357delC (p.Trp120Glyfs)deletionPathogenicrs794727619GRCh37Chr 12, 103271324: 103271324
99PAHNM_000277.1(PAH): c.1025C> A (p.Ala342Glu)SNVLikely pathogenicrs796064501GRCh37Chr 12, 103238154: 103238154
100PAHNM_000277.1(PAH): c.242C> A (p.Thr81Asn)SNVLikely pathogenicrs796064502GRCh38Chr 12, 102894845: 102894845
101PAHNM_000277.1(PAH): c.836C> T (p.Pro279Leu)SNVLikely pathogenicrs796064503GRCh37Chr 12, 103246599: 103246599
102PAHNM_000277.1(PAH): c.895T> C (p.Phe299Leu)SNVLikely pathogenicrs796064504GRCh37Chr 12, 103245482: 103245482
103PAHNM_000277.1(PAH): c.754C> T (p.Arg252Trp)SNV, HaplotypeLikely pathogenic, Pathogenicrs5030847GRCh37Chr 12, 103246681: 103246681
104PAHNM_000277.1(PAH): c.110T> C (p.Leu37Pro)SNVLikely pathogenicrs869312996GRCh37Chr 12, 103306627: 103306627
105PAHNM_000277.1(PAH): c.320A> G (p.His107Arg)SNVLikely pathogenicrs542645236GRCh37Chr 12, 103288545: 103288545
106PAHNM_000277.1(PAH): c.800A> T (p.Gln267Leu)SNVLikely pathogenicrs778154939GRCh37Chr 12, 103246635: 103246635
107PAHNM_000277.1(PAH): c.1172G> C (p.Ser391Thr)SNVLikely pathogenicrs869312997GRCh38Chr 12, 102843673: 102843673
108PAHNM_000277.1: c.1315+1G> TSNVLikely pathogenicChr na, -1: -1
109PAHNM_000277.1: c.1298dupTduplicationLikely pathogenicChr na, -1: -1
110PAHNM_000277.1: c.329delCdeletionLikely pathogenicChr na, -1: -1
111PAHNM_000277.1: c.352+2dupTduplicationLikely pathogenicChr na, -1: -1
112PAHNM_000277.1: c.1147C> TSNVLikely pathogenicChr na, -1: -1
113PAHNM_000277.1: c.745delCdeletionLikely pathogenicChr na, -1: -1
114PAHNM_000277.1: c.790delCdeletionLikely pathogenicChr na, -1: -1
115PAHNM_000277.1: c.992T> CSNVLikely pathogenicChr na, -1: -1
116PAHNM_000277.1: c.498C> GSNVPathogenicChr na, -1: -1
117PAHNM_000277.1: c.1282C> TSNVLikely pathogenicChr na, -1: -1
118PAHNM_000277.1(PAH): c.1315+1G> ASNVPathogenicrs5030861GRCh37Chr 12, 103234177: 103234177
119PAHNM_000277.1(PAH): c.1222C> T (p.Arg408Trp)SNVPathogenicrs5030858GRCh37Chr 12, 103234271: 103234271
120PAHNM_000277.1(PAH): c.932T> C (p.Leu311Pro)SNVLikely pathogenic, Pathogenicrs62642936GRCh37Chr 12, 103240710: 103240710
121PAHNM_000277.1(PAH): c.977G> A (p.Trp326Ter)SNVPathogenicrs62514959GRCh37Chr 12, 103238202: 103238202
122PAHNM_000277.1(PAH): c.838G> A (p.Glu280Lys)SNVPathogenicrs62508698GRCh37Chr 12, 103246597: 103246597
123PAHNM_000277.1(PAH): c.331C> T (p.Arg111Ter)SNVPathogenicrs76296470GRCh37Chr 12, 103288534: 103288534
124PAHNM_000277.1(PAH): c.782G> A (p.Arg261Gln)SNVLikely pathogenic, Pathogenicrs5030849GRCh37Chr 12, 103246653: 103246653
125NG_008690.1: g.22736_29335delinsGGCACCTGindelPathogenicGRCh38Chr 12, 65658016: 65664615
126PAHNM_000277.1(PAH): c.1A> G (p.Met1Val)SNVLikely pathogenic, Pathogenicrs62514891GRCh37Chr 12, 103310908: 103310908
127PAHNM_000277.1(PAH): c.473G> A (p.Arg158Gln)SNVPathogenicrs5030843GRCh37Chr 12, 103260410: 103260410
128PAHNM_000277.1(PAH): c.727C> T (p.Arg243Ter)SNVPathogenicrs5030846GRCh37Chr 12, 103246708: 103246708
129PAHNM_000277.1(PAH): c.842C> T (p.Pro281Leu)SNVPathogenicrs5030851GRCh37Chr 12, 103246593: 103246593
130PAHNM_000277.1(PAH): c.611A> G (p.Tyr204Cys)SNVLikely pathogenic, Pathogenicrs62514927GRCh37Chr 12, 103249009: 103249009
131PAHNM_000277.1(PAH): c.728G> A (p.Arg243Gln)SNVPathogenicrs62508588GRCh37Chr 12, 103246707: 103246707
132PAHNM_000277.1(PAH): c.1238G> C (p.Arg413Pro)SNVPathogenicrs79931499GRCh37Chr 12, 103234255: 103234255
133PAHNM_000277.1(PAH): c.1241A> G (p.Tyr414Cys)SNVPathogenicrs5030860GRCh37Chr 12, 103234252: 103234252
134PAHNM_000277.1(PAH): c.442-1G> ASNVPathogenicrs62514907GRCh37Chr 12, 103260442: 103260442
135PAHNM_000277.1(PAH): c.1068C> G (p.Tyr356Ter)SNVLikely pathogenic, Pathogenicrs62516095GRCh37Chr 12, 103237555: 103237555
136PAHNM_000277.1(PAH): c.814G> T (p.Gly272Ter)SNVPathogenicrs62514952GRCh37Chr 12, 103246621: 103246621
137PAHNM_000277.1(PAH): c.1092_1094delTCT (p.Leu365del)deletionPathogenicrs62516096GRCh38Chr 12, 102843751: 102843753
138PAHNM_000277.1(PAH): c.818C> T (p.Ser273Phe)SNVPathogenicrs62514953GRCh37Chr 12, 103246617: 103246617
139PAHNM_000277.1(PAH): c.842+1G> ASNVLikely pathogenic, Pathogenicrs5030852GRCh37Chr 12, 103246592: 103246592
140PAHNM_000277.1(PAH): c.764T> C (p.Leu255Ser)SNVPathogenicrs62642930GRCh37Chr 12, 103246671: 103246671
141PAHNM_000277.1(PAH): c.1197A> T (p.Val399=)SNVPathogenicrs199475584GRCh38Chr 12, 102843648: 102843648
142PAHNM_000277.1(PAH): c.776C> T (p.Ala259Val)SNVLikely pathogenic, Pathogenicrs118203921GRCh37Chr 12, 103246659: 103246659
143PAHNM_000277.1(PAH): c.829T> G (p.Tyr277Asp)SNVPathogenicrs78655458GRCh37Chr 12, 103246606: 103246606
144PAHNM_000277.1(PAH): c.284_286delTCA (p.Ile95del)deletionLikely pathogenic, Pathogenicrs62508727GRCh37Chr 12, 103288579: 103288581
145PAHNM_000277.1(PAH): c.117C> G (p.Phe39Leu)SNVPathogenicrs62642926GRCh37Chr 12, 103306620: 103306620
146PAHPAH, SER349ARGundetermined variantPathogenicChr na, -1: -1
147PAHNM_000277.1(PAH): c.1066-11G> ASNVPathogenicrs5030855GRCh37Chr 12, 103237568: 103237568
148PAHNM_000277.1(PAH): c.143T> C (p.Leu48Ser)SNVPathogenicrs5030841GRCh37Chr 12, 103306594: 103306594
149PAHNM_000277.1(PAH): c.662A> G (p.Glu221Gly)SNVPathogenicrs62514934GRCh37Chr 12, 103248958: 103248958
150PAHNM_000277.1(PAH): c.781C> T (p.Arg261Ter)SNVPathogenicrs5030850GRCh37Chr 12, 103246654: 103246654
151PAHNM_000277.1(PAH): c.165delT (p.Phe55Leufs)deletionLikely pathogenic, Pathogenicrs199475566GRCh37Chr 12, 103306572: 103306572
152PAHNM_000277.1(PAH): c.1223G> A (p.Arg408Gln)SNVPathogenicrs5030859GRCh37Chr 12, 103234270: 103234270
153PAHNM_000277.1(PAH): c.896T> G (p.Phe299Cys)SNVLikely pathogenic, Pathogenicrs62642933GRCh37Chr 12, 103245481: 103245481
154PAHNM_000277.1(PAH): c.842+2T> ASNVPathogenicrs62514955GRCh37Chr 12, 103246591: 103246591
155PAHNM_000277.1(PAH): c.1045T> C (p.Ser349Pro)SNVLikely pathogenic, Pathogenicrs62508646GRCh37Chr 12, 103238134: 103238134
156PAHNM_000277.1(PAH): c.1243G> A (p.Asp415Asn)SNVPathogenicrs62644499GRCh37Chr 12, 103234250: 103234250
157PAHNM_000277.1(PAH): c.916A> G (p.Ile306Val)SNVLikely pathogenic, Pathogenicrs62642934GRCh37Chr 12, 103240726: 103240726
158PAHNM_000277.1(PAH): c.1162G> A (p.Val388Met)SNVPathogenicrs62516101GRCh37Chr 12, 103237461: 103237461
159PAHNM_000277.1(PAH): c.1092_1106delTCTCCCCCTGGAGCT (p.Leu365_Leu369del)deletionPathogenicrs62516097GRCh37Chr 12, 103237517: 103237531
160PAHNM_000277.1(PAH): c.731C> T (p.Pro244Leu)SNVPathogenicrs118203923GRCh37Chr 12, 103246704: 103246704
161PAHNM_000277.1(PAH): c.3G> A (p.Met1Ile)SNVPathogenicrs62514893GRCh37Chr 12, 103310906: 103310906
162PAHNM_000277.1(PAH): c.1066-3C> TSNVLikely pathogenic, Pathogenicrs62507344GRCh37Chr 12, 103237560: 103237560
163PAHNM_000277.1(PAH): c.1169A> G (p.Glu390Gly)SNVLikely pathogenic, Pathogenicrs5030856GRCh37Chr 12, 103237454: 103237454
164PAHNM_000277.1(PAH): c.1076C> G (p.Ser359Ter)SNVPathogenicrs5030854GRCh37Chr 12, 103237547: 103237547
165PAHNM_000277.1(PAH): c.1139C> T (p.Thr380Met)SNVLikely pathogenic, Pathogenicrs62642937GRCh37Chr 12, 103237484: 103237484
166PAHNM_000277.1(PAH): c.136G> A (p.Gly46Ser)SNVPathogenicrs74603784GRCh37Chr 12, 103306601: 103306601
167PAHNM_000277.1(PAH): c.527G> T (p.Arg176Leu)SNVPathogenicrs74486803GRCh37Chr 12, 103249093: 103249093
168PAHNM_000277.1(PAH): c.1129delT (p.Tyr377Thrfs)deletionPathogenicrs62642941GRCh37Chr 12, 103237494: 103237494
169PAHNM_000277.1(PAH): c.1220C> T (p.Pro407Leu)SNVPathogenicrs62644473GRCh37Chr 12, 103234273: 103234273
170PAHNM_000277.1(PAH): c.194T> C (p.Ile65Thr)SNVLikely pathogenic, Pathogenicrs75193786GRCh37Chr 12, 103288671: 103288671
171PAHNM_000277.1(PAH): c.913_1199del (p.Ile306Leufs)deletionPathogenicChr na, -1: -1
172PAHNM_000277.1(PAH): c.1042C> G (p.Leu348Val)SNVPathogenicrs62516092GRCh37Chr 12, 103238137: 103238137
173PAHNM_000277.1(PAH): c.1068C> A (p.Tyr356Ter)SNVPathogenicrs62516095GRCh37Chr 12, 103237555: 103237555
174PAHNM_000277.1(PAH): c.1200-1G> ASNVPathogenicrs62507322GRCh37Chr 12, 103234294: 103234294
175PAHNM_000277.1(PAH): c.1208C> T (p.Ala403Val)SNVPathogenicrs5030857GRCh37Chr 12, 103234285: 103234285
176PAHNM_000277.1(PAH): c.165T> G (p.Phe55Leu)SNVLikely pathogenic, Pathogenicrs199475598GRCh37Chr 12, 103306572: 103306572
177PAHNM_000277.1(PAH): c.204A> T (p.Arg68Ser)SNVLikely pathogenic, Pathogenicrs76394784GRCh37Chr 12, 103288661: 103288661
178PAHNM_000277.1(PAH): c.355C> T (p.Pro119Ser)SNVLikely pathogenicrs398123292GRCh37Chr 12, 103271326: 103271326
179PAHNM_000277.1(PAH): c.441+5G> TSNVPathogenicrs62507321GRCh37Chr 12, 103271235: 103271235
180PAHNM_000277.1(PAH): c.508C> G (p.His170Asp)SNVPathogenicrs199475655GRCh37Chr 12, 103260375: 103260375
181PAHNM_000277.1(PAH): c.533A> G (p.Glu178Gly)SNVPathogenicrs77958223GRCh37Chr 12, 103249087: 103249087
182PAHNM_000277.1(PAH): c.638T> C (p.Leu213Pro)SNVLikely pathogenic, Pathogenicrs62516109GRCh37Chr 12, 103248982: 103248982
183PAHNM_000277.1(PAH): c.890G> A (p.Arg297His)SNVPathogenicrs62642939GRCh37Chr 12, 103245487: 103245487
184PAHNM_000277.1(PAH): c.898G> T (p.Ala300Ser)SNVPathogenicrs5030853GRCh37Chr 12, 103245479: 103245479
185PAHNM_000277.1(PAH): c.912+1G> ASNVPathogenicrs62514956GRCh37Chr 12, 103245464: 103245464
186PAHNM_000277.1(PAH): c.926C> T (p.Ala309Val)SNVLikely pathogenic, Pathogenicrs62642935GRCh37Chr 12, 103240716: 103240716
187PAHNM_000277.1(PAH): c.955G> T (p.Glu319Ter)SNVPathogenicrs398123294GRCh37Chr 12, 103240687: 103240687
188PAHNM_000277.1(PAH): c.974A> G (p.Tyr325Cys)SNVPathogenicrs62508578GRCh37Chr 12, 103238205: 103238205

Expression for genes affiliated with Phenylketonuria

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Search GEO for disease gene expression data for Phenylketonuria.

Pathways for genes affiliated with Phenylketonuria

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Pathways related to Phenylketonuria according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.0PAH, QDPR
29.6GCH1, PTS, QDPR
3
Show member pathways
9.5PAH, PCBD1, QDPR
4
Show member pathways
9.4TH, TPH1
5
Show member pathways
9.4ACADM, HADHA
69.4ACADM, HADHA
7
Show member pathways
9.2PAH, TH, TPH1
8
Show member pathways
8.7ACADM, G6PD, HADHA, PAH
98.1ACADM, HADHA, PAH, TH, TPH1
10
Show member pathways
5.7ACADM, BTD, G6PD, GCH1, HADHA, PAH

GO Terms for genes affiliated with Phenylketonuria

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Cellular components related to Phenylketonuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular exosomeGO:00700628.6ACADM, BTD, G6PD, PAH, PCBD1, QDPR
2mitochondrionGO:00057398.1ACADM, HADHA, NIPSNAP1, PTS, QDPR, TH
3cytosolGO:00058297.9G6PD, GCH1, PAH, PCBD1, PTS, QDPR

Biological processes related to Phenylketonuria according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1dihydrobiopterin metabolic processGO:005106610.6GCH1, QDPR
2catecholamine biosynthetic processGO:004242310.5PAH, TH
3neurotransmitter biosynthetic processGO:004213610.5PAH, TH
4regulation of nitric-oxide synthase activityGO:005099910.5GCH1, PTS
5dopamine biosynthetic processGO:004241610.4GCH1, TH
6cellular amino acid metabolic processGO:000652010.4PTS, QDPR, SLC7A5
7L-phenylalanine catabolic processGO:000655910.2PAH, PCBD1, QDPR
8fatty acid beta-oxidationGO:000663510.1ACADM, HADHA
9response to immobilization stressGO:003590210.0TH, TPH1
10response to ethanolGO:00454719.7BGLAP, G6PD, TH
11response to organic cyclic compoundGO:00140709.3BGLAP, G6PD, TH
12tetrahydrobiopterin biosynthetic processGO:00067299.1GCH1, PCBD1, PTS, QDPR
13oxidation-reduction processGO:00551148.3ACADM, G6PD, PAH, PCBD1, QDPR, TH

Molecular functions related to Phenylketonuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phenylalanine 4-monooxygenase activityGO:000450510.4PAH, PCBD1
2fatty-acyl-CoA bindingGO:000006210.1ACADM, HADHA
3amino acid bindingGO:00165979.9PAH, TH, TPH1
4identical protein bindingGO:00428029.4ACADM, G6PD, PCBD1, PTS, TTR
5protein homodimerization activityGO:00428039.0G6PD, GCH1, PAH, PTS, QDPR

Sources for Phenylketonuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet