MCID: STR042
MIFTS: 18

Stargardt Disease, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Stargardt Disease, Autosomal Recessive

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Sources:
24GeneTests, 49Novoseek, 67UMLS
See all MalaCards sources

Aliases & Descriptions for Stargardt Disease, Autosomal Recessive:

Name: Stargardt Disease, Autosomal Recessive 24
Stgd1 24 49
Macular Dystrophy with Flecks Type 1 24
 
Macular Degeneration, Juvenile 24
Fundus Flavimaculatus 24
Stargardt Disease 1 67

Classifications:



Summaries for Stargardt Disease, Autosomal Recessive

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MalaCards based summary: Stargardt Disease, Autosomal Recessive, also known as stgd1, is related to stargardt disease 1 and multifocal pattern dystrophy simulating fundus flavimaculatus. An important gene associated with Stargardt Disease, Autosomal Recessive is ABCA4 (ATP Binding Cassette Subfamily A Member 4).

Related Diseases for Stargardt Disease, Autosomal Recessive

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Graphical network of diseases related to Stargardt Disease, Autosomal Recessive:



Diseases related to stargardt disease, autosomal recessive

Symptoms for Stargardt Disease, Autosomal Recessive

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Drugs & Therapeutics for Stargardt Disease, Autosomal Recessive

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Drugs for Stargardt Disease, Autosomal Recessive (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
acetic acidapproved, NutraceuticalPhase 210764-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic acid, glacial
Acetic acid, ion(1-)
Azetat
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
2
Vitamin Aapproved, nutraceutical, vet_approvedPhase 246811103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
3VitaminsPhase 25095
4Retinol palmitatePhase 2468
5
Retinol acetatePhase 2103127-47-910245972
Synonyms:
13-cis-Retinyl acetate
Acetateall-trans-Retinol
Acetic acid, retinyl ester
All-trans-Retinyl acetate
All-trans-retinol acetate
All-trans-retinyl acetate
All-trans-retinylacetate
All-trans-vitamin a acetate
Crystalets
Davitan A 650
Myvak (van)
Myvax (van)
O(15)-Acetylretinol
O~15~-Acetyl-retinol
O~15~-Acetylretinol
 
RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)
Retinol acetate
Retinol acetate (JP15)
Retinol, acetate
Retinol, acetate, all-trans- (8CI)
Retinol, acetate, labeled with tritium
Retinyl acetate
Trans-retinyl acetate
Trans-vitamin a acetate
Vitamin A acetate
Vitamin A1 acetate
Vitamin a acetate (tritiated)
Vitamin a acetate (van)
Vitamin a alcohol acetate
Vitamin a ester
Vitamin a, acetate
6retinolNutraceuticalPhase 2468
7Omega 3 Fatty AcidNutraceuticalPhase 1969

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase 2 Tolerability and Effects of ALK-001 on Stargardt DiseaseRecruitingNCT02402660Phase 2
2Effect of DHA Supplements on Macular Function in Patients With Stargardt Macular Dystrophy and Stargardt-like Macular DystrophyCompletedNCT00060749Phase 1

Search NIH Clinical Center for Stargardt Disease, Autosomal Recessive

Genetic Tests for Stargardt Disease, Autosomal Recessive

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Genetic tests related to Stargardt Disease, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Stargardt Disease, Autosomal Recessive24 CNGB3

Anatomical Context for Stargardt Disease, Autosomal Recessive

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Animal Models for Stargardt Disease, Autosomal Recessive or affiliated genes

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Publications for Stargardt Disease, Autosomal Recessive

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Variations for Stargardt Disease, Autosomal Recessive

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Clinvar genetic disease variations for Stargardt Disease, Autosomal Recessive:

5 (show all 67)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCA4NM_000350.2(ABCA4): c.1253T> C (p.Phe418Ser)SNVLikely pathogenic, Pathogenicrs794726979GRCh37Chr 1, 94544249: 94544249
2ABCA4NM_000350.2(ABCA4): c.880C> T (p.Gln294Ter)SNVPathogenicrs794727903GRCh37Chr 1, 94546253: 94546253
3ABCA4NM_000350.2(ABCA4): c.5882G> A (p.Gly1961Glu)SNV, CompoundHeterozygoteLikely pathogenic, Pathogenic, risk factorrs1800553GRCh37Chr 1, 94473807: 94473807
4ABCA4NM_000350.2(ABCA4): c.1A> G (p.Met1Val)SNV, HaplotypePathogenicrs201738997GRCh37Chr 1, 94586601: 94586601
5ABCA4NM_000350.2(ABCA4): c.2588G> C (p.Gly863Ala)SNV, HaplotypePathogenicrs76157638GRCh37Chr 1, 94517254: 94517254
6ABCA4NM_000350.2(ABCA4): c.4947delC (p.Glu1650Argfs)deletionPathogenicrs61750159GRCh37Chr 1, 94486867: 94486867
7ABCA4NM_000350.2(ABCA4): c.3364G> A (p.Glu1122Lys)SNVPathogenicrs61751399GRCh37Chr 1, 94506923: 94506923
8CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
9CNGB3NM_019098.4(CNGB3): c.1405T> G (p.Tyr469Asp)SNVPathogenicrs35365413GRCh37Chr 8, 87641222: 87641222
10ABCA4NM_000350.2(ABCA4): c.6079C> T (p.Leu2027Phe)SNVPathogenicrs61751408GRCh37Chr 1, 94471065: 94471065
11ABCA4NM_000350.2(ABCA4): c.2565G> A (p.Trp855Ter)SNVPathogenicrs61749438GRCh37Chr 1, 94520689: 94520689
12ABCA4NM_000350.2(ABCA4): c.3106G> A (p.Glu1036Lys)SNVPathogenicrs61750061GRCh37Chr 1, 94508976: 94508976
13ABCA4NM_000350.2(ABCA4): c.3210_3211insGT (p.Ser1071Valfs)insertionPathogenicrs61750064GRCh37Chr 1, 94508434: 94508435
14ABCA4NM_000350.2(ABCA4): c.5908C> T (p.Leu1970Phe)SNVLikely pathogenic, Pathogenicrs28938473GRCh37Chr 1, 94473287: 94473287
15ABCA4NM_000350.2(ABCA4): c.1018T> G (p.Tyr340Asp)SNVPathogenicrs61748548GRCh37Chr 1, 94546115: 94546115
16ABCA4NM_000350.2(ABCA4): c.634C> T (p.Arg212Cys)SNVPathogenicrs61750200GRCh37Chr 1, 94564484: 94564484
17ABCA4NM_000350.2(ABCA4): c.52C> T (p.Arg18Trp)SNVLikely pathogenic, Pathogenicrs121909205GRCh37Chr 1, 94586550: 94586550
18ABCA4NM_000350.2(ABCA4): c.1715G> A (p.Arg572Gln)SNVLikely pathogenic, Pathogenicrs61748559GRCh37Chr 1, 94528713: 94528713
19ABCA4NM_000350.2(ABCA4): c.3113C> T (p.Ala1038Val)SNV, HaplotypePathogenicrs61751374GRCh37Chr 1, 94508969: 94508969
20ABCA4NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)SNVPathogenic, risk factorrs61750130GRCh37Chr 1, 94496666: 94496666
21ABCA4NM_000350.2(ABCA4): c.5285C> A (p.Ala1762Asp)SNVPathogenicrs121909206GRCh37Chr 1, 94481322: 94481322
22ABCA4NM_000350.2(ABCA4): c.5819T> C (p.Leu1940Pro)SNVPathogenicrs61753033GRCh37Chr 1, 94474323: 94474323
23ABCA4NM_000350.2(ABCA4): c.3322C> T (p.Arg1108Cys)SNVLikely pathogenic, Pathogenicrs61750120GRCh37Chr 1, 94508323: 94508323
24ABCA4NM_000350.2(ABCA4): c.4540-2A> GSNVPathogenicrs61752435GRCh37Chr 1, 94490606: 94490606
25ABCA4NM_000350.2(ABCA4): c.5461-10T> CSNVLikely pathogenic, Pathogenicrs1800728GRCh37Chr 1, 94476951: 94476951
26ABCA4NM_000350.2(ABCA4): c.1222C> T (p.Arg408Ter)SNVPathogenicrs61748550GRCh37Chr 1, 94544895: 94544895
27ABCA4NM_000350.2(ABCA4): c.122G> A (p.Trp41Ter)SNVPathogenicrs61751410GRCh37Chr 1, 94578567: 94578567
28ABCA4NM_000350.2(ABCA4): c.161G> A (p.Cys54Tyr)SNVLikely pathogenic, Pathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
29ABCA4NM_000350.2(ABCA4): c.161G> T (p.Cys54Phe)SNVPathogenicrs150774447GRCh37Chr 1, 94577135: 94577135
30ABCA4NM_000350.2(ABCA4): c.1760+2T> GSNVPathogenicrs61751385GRCh37Chr 1, 94528666: 94528666
31ABCA4NM_000350.2(ABCA4): c.1804C> T (p.Arg602Trp)SNVPathogenicrs61749409GRCh37Chr 1, 94528266: 94528266
32ABCA4NM_000350.2(ABCA4): c.1903C> T (p.Gln635Ter)SNVPathogenicrs61749414GRCh37Chr 1, 94528167: 94528167
33ABCA4NM_000350.2(ABCA4): c.1937+1G> ASNVPathogenicrs61752401GRCh37Chr 1, 94528132: 94528132
34ABCA4NM_000350.2(ABCA4): c.1938-1G> ASNVPathogenicrs61751263GRCh37Chr 1, 94526316: 94526316
35ABCA4NM_000350.2(ABCA4): c.194G> A (p.Gly65Glu)SNVLikely pathogenic, Pathogenicrs62654395GRCh37Chr 1, 94577102: 94577102
36ABCA4NM_000350.2(ABCA4): c.2041C> T (p.Arg681Ter)SNVLikely pathogenic, Pathogenicrs61749423GRCh37Chr 1, 94526212: 94526212
37ABCA4NM_000350.2(ABCA4): c.2300T> A (p.Val767Asp)SNVPathogenicrs61751395GRCh37Chr 1, 94522239: 94522239
38ABCA4NM_000350.2(ABCA4): c.2564G> A (p.Trp855Ter)SNVPathogenicrs61752406GRCh37Chr 1, 94520690: 94520690
39ABCA4NM_000350.2(ABCA4): c.296dupA (p.Asn99Lysfs)duplicationPathogenicrs62645948GRCh37Chr 1, 94577000: 94577000
40ABCA4NM_000350.2(ABCA4): c.3085C> T (p.Gln1029Ter)SNVPathogenicrs61751397GRCh37Chr 1, 94508997: 94508997
41ABCA4NM_000350.2(ABCA4): c.3808G> T (p.Glu1270Ter)SNVPathogenicrs61752425GRCh37Chr 1, 94502706: 94502706
42ABCA4NM_000350.2(ABCA4): c.4195G> A (p.Glu1399Lys)SNVLikely pathogenic, Pathogenicrs62642573GRCh37Chr 1, 94496610: 94496610
43ABCA4NM_000350.2(ABCA4): c.4234C> T (p.Gln1412Ter)SNVPathogenicrs61750137GRCh37Chr 1, 94496571: 94496571
44ABCA4NM_000350.2(ABCA4): c.4462T> C (p.Cys1488Arg)SNVLikely pathogenic, Pathogenicrs61750146GRCh37Chr 1, 94495078: 94495078
45ABCA4NM_000350.2(ABCA4): c.4469G> A (p.Cys1490Tyr)SNVPathogenicrs61751402GRCh37Chr 1, 94495071: 94495071
46ABCA4NM_000350.2(ABCA4): c.454C> T (p.Arg152Ter)SNVPathogenicrs62646861GRCh37Chr 1, 94568687: 94568687
47ABCA4NM_000350.2(ABCA4): c.4577C> T (p.Thr1526Met)SNVLikely pathogenic, Pathogenicrs61750152GRCh37Chr 1, 94490567: 94490567
48ABCA4NM_000350.2(ABCA4): c.4594G> A (p.Asp1532Asn)SNVLikely pathogenic, Pathogenicrs62642574GRCh37Chr 1, 94490550: 94490550
49ABCA4NM_000350.2(ABCA4): c.45G> A (p.Trp15Ter)SNVPathogenicrs62645957GRCh37Chr 1, 94586557: 94586557
50ABCA4NM_000350.2(ABCA4): c.4610C> T (p.Thr1537Met)SNVPathogenicrs62642575GRCh37Chr 1, 94490534: 94490534
51ABCA4NM_000350.2(ABCA4): c.4918C> T (p.Arg1640Trp)SNVLikely pathogenic, Pathogenicrs61751404GRCh37Chr 1, 94486896: 94486896
52ABCA4NM_000350.2(ABCA4): c.4919G> A (p.Arg1640Gln)SNVPathogenicrs61751403GRCh37Chr 1, 94486895: 94486895
53ABCA4NM_000350.2(ABCA4): c.5018+2T> CSNVPathogenicrs61750562GRCh37Chr 1, 94486794: 94486794
54ABCA4NM_000350.2(ABCA4): c.5161_5162delAC (p.Thr1721Hisfs)deletionPathogenicrs61750566GRCh37Chr 1, 94485172: 94485173
55ABCA4NM_000350.2(ABCA4): c.5196+1G> ASNVPathogenicrs61751377GRCh37Chr 1, 94485137: 94485137
56ABCA4NM_000350.2(ABCA4): c.5196+2T> CSNVPathogenicrs61751405GRCh37Chr 1, 94485136: 94485136
57ABCA4NM_000350.2(ABCA4): c.5714+5G> ASNVPathogenicrs61751407GRCh37Chr 1, 94476351: 94476351
58ABCA4NM_000350.2(ABCA4): c.5917delG (p.Val1973Terfs)deletionPathogenicrs61751389GRCh37Chr 1, 94473278: 94473278
59ABCA4NM_000350.2(ABCA4): c.6112C> T (p.Arg2038Trp)SNVPathogenicrs61750643GRCh37Chr 1, 94471032: 94471032
60ABCA4NM_000350.2(ABCA4): c.6118C> T (p.Arg2040Ter)SNVPathogenicrs61753038GRCh37Chr 1, 94471026: 94471026
61ABCA4NM_000350.2(ABCA4): c.6229C> T (p.Arg2077Trp)SNVLikely pathogenic, Pathogenicrs61750645GRCh37Chr 1, 94467467: 94467467
62ABCA4NM_000350.2(ABCA4): c.6342G> A (p.Val2114=)SNVPathogenicrs61748520GRCh37Chr 1, 94466602: 94466602
63ABCA4NM_000350.2(ABCA4): c.6386+2C> GSNVPathogenicrs61753043GRCh37Chr 1, 94466556: 94466556
64ABCA4NM_000350.2(ABCA4): c.6445C> T (p.Arg2149Ter)SNVPathogenicrs61750654GRCh37Chr 1, 94466426: 94466426
65ABCA4NM_000350.2(ABCA4): c.6609C> A (p.Tyr2203Ter)SNVPathogenicrs61753045GRCh37Chr 1, 94463537: 94463537
66ABCA4NM_000350.2(ABCA4): c.6658C> T (p.Gln2220Ter)SNVPathogenicrs61753046GRCh37Chr 1, 94463488: 94463488
67ABCA4NM_000350.2(ABCA4): c.768G> T (p.Val256=)SNVPathogenicrs62645944GRCh37Chr 1, 94564350: 94564350

Expression for genes affiliated with Stargardt Disease, Autosomal Recessive

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Search GEO for disease gene expression data for Stargardt Disease, Autosomal Recessive.

Pathways for genes affiliated with Stargardt Disease, Autosomal Recessive

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GO Terms for genes affiliated with Stargardt Disease, Autosomal Recessive

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Cellular components related to Stargardt Disease, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:00017509.6ABCA4, CNGB3
2integral component of plasma membraneGO:00058879.1ABCA4, CNGB3

Biological processes related to Stargardt Disease, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transportGO:00068109.1ABCA4, CNGB3
2visual perceptionGO:00076018.8ABCA4, CNGB3

Sources for Stargardt Disease, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet