MCID: ATM002
MIFTS: 47

Autoimmune Polyendocrine Syndrome Type 1 malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases, Reproductive diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

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Aliases & Descriptions for Autoimmune Polyendocrine Syndrome Type 1:

Name: Autoimmune Polyendocrine Syndrome Type 1 11 46 13
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 11 46 23 24
Autoimmune Polyendocrinopathy Syndrome Type 1 46 23 24
Polyglandular Type I Autoimmune Syndrome 24 66
Apeced 24 48
Aps1 23 24
Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy 24
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 46
Polyendocrinopathy-Candidiasis-Ectodermal-Dystrophy, Autoimmune 24
Autoimmune Syndrome Type I, Polyglandular 24
Autoimmune Polyglandular Syndrome, Type 1 24
 
Polyglandular Autoimmune Syndrome, Type 1 24
Polyglandular Autoimmune Syndrome Type I 25
Polyglandular Autoimmune Syndrome Type 1 46
Autoimmune Polyglandular Syndrome Type 1 46
Autoimmune Polyglandular Syndrome I 11
Whitaker Syndrom 11
Aire Deficiency 24
Aps Type 1 24
Pga 1 46
Pga I 24
Aps 1 46

Classifications:



External Ids:

Disease Ontology11 DOID:0050167

Summaries for Autoimmune Polyendocrine Syndrome Type 1

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NIH Rare Diseases:46 Autoimmune polyglandular syndrome type 1 is an inherited autoimmune condition that affects many of the body's organs. symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and addison disease. affected individuals typically have at least two of these features, and many have all three. this syndrome can cause a variety of additional signs and symptoms, although they occur less often. complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. type 1 diabetes also occurs in some patients with this condition. mutations in the aire gene cause autoimmune polyglandular syndrome, type 1. this condition is inherited in an autosomal recessive fashion. last updated: 12/28/2015

MalaCards based summary: Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to whitaker syndrome and autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia, and has symptoms including diarrhea and diarrhea. An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (Autoimmune Regulator), and among its related pathways are Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) and Dopamine metabolism. Affiliated tissues include ovary, eye and skin, and related mouse phenotypes are respiratory system and growth/size/body region.

Disease Ontology:11 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Genetics Home Reference:24 Autoimmune polyglandular syndrome, type 1 is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's tissues and organs by mistake.

CDC:2 Outdoor air quality has improved since the 1990s, but many challenges remain in protecting Americans from air quality problems. Ground-level ozone, the main part of smog, and particle pollution are just two of the many threats to air quality and public health in the United States.

Wikipedia:69 Autoimmune polyendocrine syndrome type 1 (APS-1), also known as autoimmune... more...

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

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Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii autoimmune polyendocrine syndrome type 1

Diseases related to Autoimmune Polyendocrine Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1whitaker syndrome11.9
2autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia11.2
3autoimmune polyendocrine syndrome10.7
4angelucci's syndrome10.5AIRE, CASR
5t cell deficiency10.4AIRE, CASR
6chronic conjunctivitis10.4AIRE, IL17A
7hereditary multiple exostoses10.2AIRE, IL17A
8obsessive-compulsive personality disorder10.2TPH1, TPH2
9hypoglycemic coma10.2TPH1, TPH2
10blood group incompatibility10.2AIRE, IL17A
11interstitial lung disease10.1TH, TPH1
12laryngeal adductor paralysis10.1TPH1, TPH2
13perry syndrome10.1TH, TPH1
14autosomal recessive congenital methemoglobinemia10.1AIRE, CYP21A2
15dressler's syndrome10.1AIRE, CYP21A2
16atrichia with papular lesions10.1AIRE, CYP21A2
17space motion sickness10.1DDC, TH
18nail disorder, nonsyndromic congenital, 710.0AIRE, DDC
19systemic lupus erythematosus10.0
20autoimmune hepatitis10.0
21hepatitis10.0
22hypoparathyroidism10.0
23candidiasis10.0
24chronic mucocutaneous candidiasis10.0
25intestinal disease10.0
26neuronitis10.0
27vasculitis10.0
28lupus erythematosus10.0
29keratopathy10.0
30thymoma10.0
31chancroid10.0AIRE, CYP21A2
32noonan syndrome 19.9TH, TPH1
33enthesopathy9.9TPH1, TPH2
34personality disorder9.8AIRE, IL17A
35acute pancreatitis9.7
36pancreatitis9.7
37sudden infant death syndrome9.7TH, TPH1, TPH2
38adrenal gland pheochromocytoma9.6DDC, TH
39craniosynostosis, adelaide type9.6TH, TPH1, TPH2
40omenn syndrome9.6
41myasthenia gravis9.6
42lymphoma9.6
43parkinson disease, late-onset9.5DDC, TH, TPH1
44neonatal myasthenia gravis7.1AIRE, CASR, CYP21A2, DDC, IL17A, NLRP5
45kunjin encephalitis6.6AIRE, CASR, CYP21A2, DDC, IL17A, NLRP5

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 1:



Diseases related to autoimmune polyendocrine syndrome type 1

Symptoms for Autoimmune Polyendocrine Syndrome Type 1

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UMLS symptoms related to Autoimmune Polyendocrine Syndrome Type 1:


diarrhea

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

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Drugs for Autoimmune Polyendocrine Syndrome Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiconazolePhase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
2
Amphotericin BPhase 21171397-89-314956, 5280965
Synonyms:
12633-72-6
1397-89-3
30782-62-8
5-18-10-00525 (Beilstein Handbook Reference)
54482-28-9
8055-20-7
AB00513832
ABLC
AC1L1CN2
AC1L24V6
AC1L70KF
AC1L73U6
AC1NQXTD
AC1NTQ32
AC1NUQG4
AC1NY9JC
AC1O7GCZ
AC1O8FQV
AC1O8PFK
AI3-26528
AMPH-B
AMPH-b
Abelcet
Abelecet
AmBisome (TN)
Ambap1397-89-3
Ambisome
Amfotericina B
Amfotericina B [INN-Spanish]
Ampho-Moronal
Amphocin
Amphomoronal
Amphortericin B
Amphotec
Amphotec (TN)
Amphotericin
Amphotericin .BETA.
Amphotericin B
Amphotericin B (JP15/USP/INN)
Amphotericin B Cholesterol Dispersion
Amphotericin B Colloidal Dispersion
Amphotericin B [USAN:INN:JAN]
Amphotericin B, Lipid-based
Amphotericin B, Streptomyces sp.
Amphotericin-B
Amphotericine B
Amphotericine B [INN-French]
Amphotericinum
Amphotericinum B
Amphotericinum B [INN-Latin]
Amphotherizin
Amphotherizin [German]
Amphotéricine B
Amphozone
BIDD:GT0351
BPBio1_000374
BRN 0078342
BSPBio_000340
C-AmB
C06573
C47H73NO17
CCRIS 5963
CHEBI:2682
CHEMBL1200646
CHEMBL267345
CID10533925
CID10629638
CID10677275
CID14956
CID1972
 
CID352546
CID354192
CID5280965
CID5386092
CID5458486
CID5771695
CID6604295
CID6708817
CID6713692
CID9919339
D00203
DB00681
DivK1c_007045
EINECS 215-742-2
Fungilin
Fungisome
Fungisone
Fungizone
Fungizone (TN)
HMS1569A22
HSDB 3008
HSDB 3008 IAB
Halizon
I06-0257
KBio1_001989
KBio2_000551
KBio2_003119
KBio2_005687
KBioGR_002298
KBioSS_000551
LMPK06000002
LNS-AmB
LS-187721
LS-93
Liposomal Amphotericin B
Liposomal amphotericin b
MLS002702966
MolPort-006-392-260
Mysteclin-F
NCGC00014913
NCGC00090808-01
NCGC00098014-01
NCGC00179595-01
NCI527017
NCI60_004288
NCIStruc1_001042
NCIStruc2_000920
NKTR-024
NS 718
NSC 527017
NSC-527017
NSC527017
Prestwick0_000410
Prestwick1_000410
Prestwick2_000410
Prestwick3_000410
Prestwick_721
SMP1_000302
SMR001566780
SPBio_000715
SPBio_002279
ST50999656
SinuNase
SpecPlus_000949
Spectrum2_000818
Spectrum4_001779
Spectrum_000111
UNII-7XU7A7DROE
amophotericin B
amphotericin B liposomal
amphotericin b

Interventional clinical trials:

idNameStatusNCT IDPhase
1CAMB/MAT2203 in Patients With Mucocutaneous CandidiasisRecruitingNCT02629419Phase 2

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

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Genetic tests related to Autoimmune Polyendocrine Syndrome Type 1:

id Genetic test Affiliating Genes
1 Polyglandular Autoimmune Syndrome, Type 125
2 Autoimmune Polyendocrinopathy Syndrome Type 123 AIRE

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

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MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

34
Ovary, Eye, Skin, Thyroid, Pituitary

Animal Models for Autoimmune Polyendocrine Syndrome Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053887.8AIRE, IL17A, TH, TPH1, TPH2
2MP:00053787.0AIRE, CASR, DDC, IL17A, TH, TPH1

Publications for Autoimmune Polyendocrine Syndrome Type 1

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Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 30)
idTitleAuthorsYear
1
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. (27219120)
2016
2
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. (26830021)
2016
3
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. (27253668)
2016
4
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. (26312540)
2015
5
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. (25475693)
2015
6
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. (24792136)
2014
7
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. (25361846)
2014
8
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. (24988226)
2014
9
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. (23122533)
2013
10
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. (23182718)
2013
11
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. (23365130)
2013
12
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. (23342054)
2013
13
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. (22344197)
2012
14
Autoimmune polyendocrine syndrome type 1: case report and review of literature. (22460196)
2012
15
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. (22506635)
2012
16
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. (21901851)
2012
17
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. (21182094)
2011
18
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. (21198756)
2011
19
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. (20453472)
2010
20
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). (19382992)
2009
21
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. (19251657)
2009
22
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. (19837919)
2009
23
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. (19382990)
2009
24
Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. (18296018)
2008
25
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. (18322283)
2008
26
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. (17374709)
2007
27
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. (17215373)
2007
28
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. (17118990)
2007
29
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. (11207636)
2001
30
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. (10470707)
1999

Variations for Autoimmune Polyendocrine Syndrome Type 1

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Expression for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 1.

Pathways for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.1DDC, TH
29.1DDC, TH
39.1DDC, TH
4
Show member pathways
9.0TH, TPH2
58.9DDC, TPH1, TPH2
6
Show member pathways
8.9DDC, TPH1, TPH2
7
Show member pathways
8.9DDC, TPH1, TPH2
8
Show member pathways
8.7DDC, TH, TPH1
9
Show member pathways
8.1DDC, TH, TPH1, TPH2
108.1DDC, TH, TPH1, TPH2
118.1DDC, TH, TPH1, TPH2
12
Show member pathways
8.1DDC, TH, TPH1, TPH2

GO Terms for genes affiliated with Autoimmune Polyendocrine Syndrome Type 1

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Cellular components related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430058.6TH, TPH1, TPH2

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1aromatic amino acid family metabolic processGO:000907210.1TPH1, TPH2
2response to immobilization stressGO:00359029.7TH, TPH1
3dopamine biosynthetic processGO:00424169.5DDC, TH
4isoquinoline alkaloid metabolic processGO:00330769.5DDC, TH
5catecholamine biosynthetic processGO:00424239.5DDC, TH
6response to pyrethroidGO:00466849.5DDC, TH
7cellular response to alkaloidGO:00713129.5DDC, TH
8aminergic neurotransmitter loading into synaptic vesicleGO:00158429.5DDC, TH
9cellular response to growth factor stimulusGO:00713639.5DDC, TH
10multicellular organism agingGO:00102599.5DDC, TH
11phytoalexin metabolic processGO:00523149.5DDC, TH
12serotonin biosynthetic processGO:00424279.3DDC, TPH1, TPH2
13indolalkylamine biosynthetic processGO:00462199.3DDC, TPH1, TPH2
14response to nutrient levelsGO:00316679.2TH, TPH2
15response to activityGO:00148238.9TH, TPH2
16circadian rhythmGO:00076238.9DDC, TPH1, TPH2
17oxidation-reduction processGO:00551147.8CYP21A2, TH, TPH1, TPH2

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tryptophan 5-monooxygenase activityGO:00045109.9TPH1, TPH2
2iron ion bindingGO:00055068.6CYP21A2, TPH1, TPH2
3amino acid bindingGO:00165978.1DDC, TH, TPH1, TPH2

Sources for Autoimmune Polyendocrine Syndrome Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet