MCID: DBN001
MIFTS: 52

Dubin-Johnson Syndrome malady

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Dubin-Johnson Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Dubin-Johnson Syndrome:

Name: Dubin-Johnson Syndrome 52 11 48 24 25 54 70 12 50 13
Conjugated Hyperbilirubinemia 48 27 68
Jaundice, Chronic Idiopathic 25 39 68
Djs 48 25 70
Chronic Idiopathic Jaundice 11 48
Hyperbilirubinemia Type 2 48 54
 
Dubin Johnson Syndrome 11 27
Hyperbilirubinemia Type Ii 24
Sprinz-Nelson Syndrome 54
Hyperbilirubinemia Ii 25
Dubin-Sprinz Disease 54
Hyperbilirubinemia 2 48

Characteristics:

Orphanet epidemiological data:

54
dubin-johnson syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy

HPO:

64
dubin-johnson syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 237500
Disease Ontology11 DOID:12308
ICD1030 E80.6
MeSH39 D007566
NCIt45 C34741
SNOMED-CT62 44553005
Orphanet54 ORPHA234
MESH via Orphanet40 D007566
UMLS via Orphanet69 C0022350
ICD10 via Orphanet31 E80.6
MedGen37 C0022350

Summaries for Dubin-Johnson Syndrome

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NIH Rare Diseases:48 Dubin-Johnson syndrome (DJS) is an inherited disorder of bilirubin characterized by a by a buildup of bilirubin in the bloodstream (hyperbilirubinemia). When bilirubin builds up in the skin and the whites of the eyes, it can cause a yellowish color to the skin (jaundice). Individuals with DJS may also have a liver that is sometimes enlarged and tender. The symptoms often do not present until puberty or adulthood. Factors that may worsen symptoms include: alcohol use, birth control bills, infection, and pregnancy. In most cases, treatment is not required.  Last updated: 6/17/2016

MalaCards based summary: Dubin-Johnson Syndrome, also known as conjugated hyperbilirubinemia, is related to gilbert syndrome and crigler-najjar syndrome, type ii, and has symptoms including abnormality of urine homeostasis, abnormality of the gastric mucosa and abnormality of coagulation. An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP Binding Cassette Subfamily C Member 2), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include liver, skin and eye, and related mouse phenotype Decreased Salmonella enterica Typhimurium invasion.

Disease Ontology:11 A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.

Genetics Home Reference:25 Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood, although a few individuals have been diagnosed soon after birth. Jaundice is typically the only symptom of Dubin-Johnson syndrome, but some people also experience weakness, mild upper abdominal pain, nausea, and/or vomiting.

OMIM:52 Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase... (237500) more...

UniProtKB/Swiss-Prot:70 Dubin-Johnson syndrome: Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function.

Related Diseases for Dubin-Johnson Syndrome

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Graphical network of the top 20 diseases related to Dubin-Johnson Syndrome:



Diseases related to dubin-johnson syndrome

Symptoms & Phenotypes for Dubin-Johnson Syndrome

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Symptoms by clinical synopsis from OMIM:

237500

Clinical features from OMIM:

237500

Human phenotypes related to Dubin-Johnson Syndrome:

 64 54 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of urine homeostasis64 hallmark (90%) HP:0003110
2 abnormality of the gastric mucosa64 54 typical (50%) Frequent (79-30%) HP:0004295
3 abnormality of coagulation64 54 occasional (7.5%) Occasional (29-5%) HP:0001928
4 abdominal pain64 54 occasional (7.5%) Occasional (29-5%) HP:0002027
5 hepatomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002240
6 abnormality of temperature regulation64 occasional (7.5%) HP:0004370
7 jaundice64 54 Very frequent (99-80%) HP:0000952
8 biliary tract abnormality64 54 Very frequent (99-80%) HP:0001080
9 conjugated hyperbilirubinemia64 54 Very frequent (99-80%) HP:0002908
10 abnormality of the liver54 Very frequent (99-80%)
11 fever54 Occasional (29-5%)
12 abnormal urinary color54 Very frequent (99-80%)
13 fatigue54 Occasional (29-5%)

UMLS symptoms related to Dubin-Johnson Syndrome:


jaundice (not of newborn)

GenomeRNAi Phenotypes related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00133-A-19.1ABCC1, ABCC4, F7

Drugs & Therapeutics for Dubin-Johnson Syndrome

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Drugs for Dubin-Johnson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Protective Agents7190
2Liver Extracts3868
3
Bilirubin112635-65-45280352
Synonyms:
(4Z,15Z)-Bilirubin IXa
(Z,Z)-Bilirubin IXa
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionate
1,10,19,22,23,24-Hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-Biline-8,12-dipropionic acid
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoate
2,17-Diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-Biline-8,12-dipropanoic acid
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoate
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-((3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-2-yl)methyl)-4-methyl-5-((4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl)-1H-pyrrol-3-yl)propanoic acid
 
3-(2-((3-(2-Carboxyethyl)-4-methyl-5-[(Z)-(3-methyl-5-oxo-4-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene)methyl]-1H-pyrrol-2-yl)methyl)-4-methyl-5-[(Z)-(4-methyl-5-oxo-3-vinyl-1,5-dihydro-2H-pyrrol-2-ylidene
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoate
3-[2-[[3-(2-Carboxyethyl)-5-[(Z)-(3-ethenyl-4-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-2-yl]methyl]-5-[(Z)-(4-ethenyl-3-methyl-5-oxo-pyrrol-2-ylidene)methyl]-4-methyl-1H-pyrrol-3-yl]propanoic acid
Bilirubin
Bilirubin IX-alpha
Cholerythrin
Hematoidin
4Antioxidants2928

Interventional clinical trials:

idNameStatusNCT IDPhase
1Conjugated Hyperbilirubinemia and Pulse OximetryTerminatedNCT00741117

Search NIH Clinical Center for Dubin-Johnson Syndrome


Cochrane evidence based reviews: jaundice, chronic idiopathic

Genetic Tests for Dubin-Johnson Syndrome

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Genetic tests related to Dubin-Johnson Syndrome:

id Genetic test Affiliating Genes
1 Dubin-Johnson Syndrome27 24 ABCC2
2 Conjugated Hyperbilirubinemia27

Anatomical Context for Dubin-Johnson Syndrome

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MalaCards organs/tissues related to Dubin-Johnson Syndrome:

36
Liver, Skin, Eye, Testes, Colon

Publications for Dubin-Johnson Syndrome

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Articles related to Dubin-Johnson Syndrome:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome. (27406372)
2016
2
Treatment for tuberculosis in a patient with Dubin-Johnson syndrome. (26264947)
2015
3
Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene. (25336012)
2014
4
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. (23429660)
2013
5
Hepatectomy in a hepatocellular carcinoma case with Dubin-Johnson syndrome and indocyanine green excretory defect. (26181407)
2013
6
Dubin-Johnson syndrome with cholecystolithiasis and choledocholithiasis. (23708305)
2013
7
Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case. (24228133)
2013
8
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome. (23045960)
2013
9
Living donor liver transplantation using a graft from a donor with Dubin-Johnson syndrome. (20819184)
2012
10
Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes. (23065530)
2012
11
Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report. (21948575)
2011
12
Dubin-Johnson syndrome presenting after acute viral hepatitis. (24834177)
2011
13
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. (21044052)
2010
14
Persistent cholestasis following cholecystectomy: a case of Dubin-Johnson syndrome. (20227718)
2010
15
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. (19881259)
2009
16
Dubin-Johnson syndrome. (18460254)
2008
17
Quiz HQ 45. A rare case of conjugated hyperbilirubinemia. Dubin-Johnson syndrome. (18697280)
2008
18
Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations. (17287630)
2007
19
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. (17183837)
2006
20
Identification of a novel 974C-->G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids. (16952291)
2006
21
Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. (16549534)
2006
22
Dubin-Johnson syndrome with systemic lupus erythematosus: a case report. (17085354)
2006
23
Ultrastructure of Kupffer cells and hepatocytes in the Dubin-Johnson syndrome: a case report. (16521235)
2006
24
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. (16835471)
2006
25
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. (15870973)
2005
26
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome. (16012956)
2005
27
A potential Dubin-Johnson syndrome imaging agent: synthesis, biodistribution, and microPET imaging. (15967123)
2005
28
A novel ancestral splicing mutation in the multidrug resistance protein 2 gene causes Dubin-Johnson syndrome in Ashkenazi Jewish patients. (15777714)
2005
29
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. (15565411)
2004
30
Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome. (15519272)
2004
31
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy. (15143928)
2004
32
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). (12388192)
2003
33
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. (12942343)
2003
34
Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. (14662121)
2003
35
Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. (12884082)
2003
36
Association of Dubin-Johnson syndrome and portal vein thrombosis. (12118928)
2002
37
Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome. (12395335)
2002
38
Dubin-Johnson syndrome: molecular basis and pathogenesis]. (12416362)
2002
39
A new mutation of the ATP-binding cassette, sub-family C, member 2 (ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. (12087194)
2002
40
Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid. (12012642)
2002
41
Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin- Johnson syndrome. (11477083)
2001
42
Hepatobiliary scintigraphy in an exacerbation of Dubin-Johnson syndrome. (11416756)
2001
43
Incipient perisinusoidal fibrosis in an adult patient with Dubin-Johnson syndrome. (10979180)
2000
44
Congenital extrahepatic portocaval shunt associated with hepatic hyperplastic nodules in a patient with Dubin-Johnson syndrome. (11029086)
2000
45
Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin- Johnson syndrome. (11093739)
2000
46
Absence of R1066X mutation in six Japanese patients with Dubin-Johnson syndrome. (10319416)
1999
47
Clinical quiz. Dubin-Johnson syndrome or Rotor syndrome. (10507830)
1999
48
Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. (10464142)
1999
49
Cholescintigraphy in Dubin-Johnson syndrome. (14600921)
1999
50
Electron microscopic findings of the liver of a patient with Dubin-Johnson syndrome complicated by chronic hepatitis C and iron overload. (11810446)
1999

Variations for Dubin-Johnson Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Dubin-Johnson Syndrome:

70
id Symbol AA change Variation ID SNP ID
1ABCC2p.Arg768TrpVAR_000099rs56199535
2ABCC2p.Gln1382ArgVAR_010756rs72558202
3ABCC2p.Arg1150HisVAR_013327rs72558200
4ABCC2p.Ile1173PheVAR_013328rs72558201

Clinvar genetic disease variations for Dubin-Johnson Syndrome:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1ABCC2NM_000392.4(ABCC2): c.2273G> T (p.Gly758Val)SNVLikely pathogenicrs786205465GRCh37Chr 10, 101578548: 101578548
2ABCC2NM_000392.4(ABCC2): c.1967+1G> ASNVPathogenicrs146405172GRCh37Chr 10, 101571360: 101571360
3ABCC2NM_000392.4(ABCC2): c.2901C> A (p.Tyr967Ter)SNVPathogenicrs17222547GRCh37Chr 10, 101591385: 101591385
4ABCC2NM_000392.4(ABCC2): c.3741+1G> ASNVPathogenicrs34937870GRCh37Chr 10, 101601851: 101601851
5ABCC2NM_000392.4(ABCC2): c.1013_1014delTG (p.Val338Glufs)deletionPathogenicrs864309675GRCh38Chr 10, 99799352: 99799353
6ABCC2NM_000392.4(ABCC2): c.2125T> C (p.Trp709Arg)SNVPathogenicrs764958537GRCh37Chr 10, 101577095: 101577095
7ABCC2NM_000392.4(ABCC2): c.3399_3400delTT (p.Tyr1134Cysfs)deletionPathogenicrs886044573GRCh37Chr 10, 101594277: 101594278
8ABCC2NM_000392.4(ABCC2): c.974C> G (p.Ser325Ter)SNVPathogenicrs371866713GRCh37Chr 10, 101559070: 101559070
9ABCC2NM_000392.4(ABCC2): c.3196C> T (p.Arg1066Ter)SNVLikely pathogenic, Pathogenicrs72558199GRCh37Chr 10, 101591826: 101591826
10ABCC2ABCC2, 168-BP DEL, NT2272deletionPathogenicChr na, -1: -1
11ABCC2NM_000392.4(ABCC2): c.2302C> T (p.Arg768Trp)SNVPathogenicrs56199535GRCh37Chr 10, 101578577: 101578577
12ABCC2NM_000392.4(ABCC2): c.1815+2T> ASNVPathogenicrs387906395GRCh37Chr 10, 101567988: 101567988
13ABCC2ABCC2, IVS18DS, T-C, +2SNVPathogenicChr na, -1: -1
14ABCC2NM_000392.4(ABCC2): c.4145A> G (p.Gln1382Arg)SNVPathogenicrs72558202GRCh37Chr 10, 101605538: 101605538
15ABCC2NM_000392.4(ABCC2): c.1967+2T> CSNVPathogenicrs387906396GRCh37Chr 10, 101571361: 101571361
16ABCC2NM_000392.4(ABCC2): c.3517A> T (p.Ile1173Phe)SNVPathogenicrs72558201GRCh37Chr 10, 101595950: 101595950
17ABCC2NM_000392.4(ABCC2): c.3449G> A (p.Arg1150His)SNVPathogenicrs72558200GRCh37Chr 10, 101595882: 101595882

Expression for genes affiliated with Dubin-Johnson Syndrome

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Search GEO for disease gene expression data for Dubin-Johnson Syndrome.

Pathways for genes affiliated with Dubin-Johnson Syndrome

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Pathways related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

(show all 15)
idSuper pathwaysScoreTop Affiliating Genes
19.8ABCC2, ABCC3
29.7ABCC1, ABCC2
3
Show member pathways
9.7ABCC1, ABCC2
49.7ABCC1, ABCC3
59.3ABCC1, ABCC2, ABCC3
6
Show member pathways
9.3ABCC2, ABCC3, ABCC4
7
Show member pathways
8.9ABCC2, ABCC3, SLCO1B1
88.9ABCC1, ABCC2, ABCC3, ABCC4
98.9ABCC1, ABCC2, ABCC3, ABCC4
10
Show member pathways
8.9ABCC2, ABCC4, SLCO1B1
118.5ABCC2, ABCC3, ABCC4, SLCO1B1
128.5ABCC2, ABCC3, ABCC4, SLCO1B1
13
Show member pathways
8.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1
14
Show member pathways
8.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1
15
Show member pathways
8.1ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1

GO Terms for genes affiliated with Dubin-Johnson Syndrome

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Cellular components related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:00163239.6ABCC1, ABCC4, SLCO1B1
2membraneGO:00160208.9ABCC1, ABCC2, ABCC3, ABCC4, SLCO1B1
3plasma membraneGO:00058867.5ABCC1, ABCC2, ABCC3, ABCC4, F7, SLCO1B1

Biological processes related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to estrogenGO:004362710.4ABCC2, F7
2thyroid hormone transportGO:007032710.1ABCC2, SLCO1B1
3bile acid and bile salt transportGO:001572110.0ABCC3, SLCO1B1
4response to drugGO:004249310.0ABCC1, ABCC2, ABCC4
5anion transmembrane transportGO:00986569.7ABCC1, ABCC2, ABCC3, ABCC4
6transportGO:00068109.3ABCC1, ABCC2, ABCC3
7transmembrane transportGO:00550859.1ABCC1, ABCC12, ABCC2, ABCC3, ABCC4

Molecular functions related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1organic anion transmembrane transporter activityGO:00085149.8ABCC2, ABCC3
2ATPase activity, coupled to transmembrane movement of substancesGO:00426269.1ABCC1, ABCC12, ABCC2, ABCC3
3ATP bindingGO:00055248.8ABCC1, ABCC12, ABCC2, ABCC3, ABCC4

Sources for Dubin-Johnson Syndrome

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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