DJS
MCID: DBN001
MIFTS: 64

Dubin-Johnson Syndrome (DJS) malady

Genetic diseases, Rare diseases, Liver diseases categories
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Summaries for Dubin-Johnson Syndrome

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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Fully expand this MalaCard
NIH Rare Diseases:43 Dubin-johnson syndrome is a type of hereditary hyperbilirubinemia with a relatively benign course. symptoms may include a yellowish color to the skin (jaundice), and a liver that is sometimes enlarged and tender.  the symptoms often do not present until puberty or adulthood. the syndrome interferes with the body's ability to move bilirubin from the liver. in most cases, treatment is not required.  last updated: 12/19/2008

MalaCards: Dubin-Johnson Syndrome, also known as dubin johnson syndrome, is related to cholestasis and factor vii deficiency, and has symptoms including asthenia/fatigue/weakness, fever/chilling and clotting/hemostasis disorders. An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP-binding cassette, sub-family C (CFTR/MRP), member 2), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Drug Induction of Bile Acid Pathway. The compounds cmfda and potassium antimonyltartrate have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and testes, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Disease Ontology:8 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:21 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.

Description from OMIM:47 237500

Aliases & Classifications for Dubin-Johnson Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Liver diseases


Characteristics (Orphanet epidemiological data):

49
dubin-johnson syndrome:
Inheritance: Autosomal recessive; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

dubin-johnson syndrome 8 9 43 21 47 10 45 49
dubin johnson syndrome 8 20 22
conjugated hyperbilirubinemia 43 62
jaundice, chronic idiopathic 21 62
chronic idiopathic jaundice 8 43
hyperbilirubinemia type 2 43 49
djs 43 21
sprinz-nelson syndrome 49
hyperbilirubinemia ii 21
dubin-sprinz disease 49
hyperbilirubinemia 2 43


External Ids:

Disease Ontology8 DOID:12308
MeSH35 D007566
NCIt40 C34741
OMIM47 237500
SNOMED-CT58 44553005
MESH via Orphanet36 D007566
ICD10 via Orphanet26 E80.6
SNOMED-CT via Orphanet59 44553005
UMLS via Orphanet63 C0022350

Related Diseases for Dubin-Johnson Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Dubin-Johnson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis31.1ABCC2, ABCC1, ABCC3
2factor vii deficiency30.9F7
3hepatocellular carcinoma30.5ABCC1, ABCC3, ABCC2, UGT1A1, TK1, F7
4hepatitis10.9
5gilbert syndrome10.4
6viral hepatitis10.4
7rotor syndrome10.4
8hepatitis c10.3
9abetalipoproteinemia10.3
10congenital dyserythropoietic anemia10.3
11hereditary spherocytosis10.3
12portal vein thrombosis10.3
13choledocholithiasis10.3
14cholelithiasis10.3
15cholecystolithiasis10.3
16systemic lupus erythematosus10.3
17atherosclerosis10.3
18cavernous hemangioma10.3
19colon cancer10.3
20hemangioma10.3
21liver cirrhosis10.3
22liver disease10.3
23lupus erythematosus10.3
24neonatal jaundice10.3
25neurofibroma10.3
26pneumonia10.3
27purpura10.3
28thalassemia10.3
29dwarfism10.3
30crigler najjar syndrome, type 210.3
31hyperbilirubinemia, rotor type, digenic10.3
32short bowel syndrome10.2
33neonatal thyrotoxicosis10.2
34biliary atresia10.2
35thyrotoxicosis10.2
36hemorrhagic disease10.2
37mitochondrial dna depletion syndrome10.2
38lung cancer10.1ABCC3
39intrahepatic cholestasis10.1ABCC2, ABCC1
40extrahepatic cholestasis10.1ABCC2, ABCC3, ABCC1
41colon adenocarcinoma10.0ABCC1, ABCC2, ABCC3
42precursor t-cell acute lymphoblastic leukemia10.0ABCC1, ABCC3, ABCC2
43microphthalmia10.0
44retinitis10.0
45acute leukemia10.0ABCC3, ABCC1, ABCC2
46bilirubin metabolic disorder10.0ABCC3, UGT1A1, ABCC2
47pseudoxanthoma elasticum10.0MRPS7, ABCC6, ABCC1
48galactosemia10.0UGT1A1, ABCC2
49acute lymphocytic leukemia10.0UGT1A1, ABCC2, ABCC3, ABCC1
50ovarian cancer10.0ABCC2, ABCC1, ABCC3

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



Diseases related to dubin-johnson syndrome

Symptoms for Dubin-Johnson Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

237500

Clinical features from OMIM:

237500

Symptoms:

49 (show all 10)
  • asthenia/fatigue/weakness
  • fever/chilling
  • clotting/hemostasis disorders
  • hepatomegaly/liver enlargement (excluding storage disease)
  • acute abdominal pain/colic
  • epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  • autosomal recessive inheritance
  • abnormal colour of the urine/cholic/dark urines
  • hepatitis/icterus/cholestasis
  • structural anomalies of the liver and the biliary tract

Drugs & Therapeutics for Dubin-Johnson Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Dubin-Johnson Syndrome

Search NIH Clinical Center for Dubin-Johnson Syndrome

Genetic Tests for Dubin-Johnson Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Dubin-Johnson Syndrome:

id Genetic test Affiliating Genes
1 Dubin-Johnson Syndrome20 22 ABCC2

Anatomical Context for Dubin-Johnson Syndrome

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33MalaCards
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MalaCards organs/tissues related to Dubin-Johnson Syndrome:

33
Liver, Skin, Testes, Colon

Animal Models for Dubin-Johnson Syndrome or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Dubin-Johnson Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1TK1, UROS, ABCC2, ABCC3
2MP:00053767.6F7, ABCC1, ABCC3, ABCC6, ABCC2, UROS

Publications for Dubin-Johnson Syndrome

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Sources:
52PubMed
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Articles related to Dubin-Johnson Syndrome:

(show top 50)    (show all 174)
idTitleAuthorsYear
1
Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case. (24228133)
2013
2
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. (19881259)
2009
3
Dubin-Johnson syndrome. (18460254)
2008
4
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. (17183837)
2006
5
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. (15565411)
2004
6
Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome. (15519272)
2004
7
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy. (15143928)
2004
8
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). (12388192)
2003
9
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. (12942343)
2003
10
Association of Dubin-Johnson syndrome and portal vein thrombosis. (12118928)
2002
11
Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin- Johnson syndrome. (11477083)
2001
12
Congenital extrahepatic portocaval shunt associated with hepatic hyperplastic nodules in a patient with Dubin-Johnson syndrome. (11029086)
2000
13
A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome. (9878557)
1998
14
Dubin-Johnson syndrome as a cause of neonatal jaundice: the importance of coproporphyrins investigation. (9729708)
1998
15
Defective hepatobiliary leukotriene elimination in patients with the Dubin-Johnson syndrome. (8737590)
1996
16
Neonatal cholestasis in two siblings: a variant of Dubin-Johnson syndrome? (8924312)
1995
17
Defective biliary excretion of epinephrine metabolites in mutant (TR-) rats: relation to the pathogenesis of black liver in the Dubin-Johnson syndrome and Corriedale sheep with an analogous excretory defect. (1592353)
1992
18
Hepatobiliary gammagraphy in the diagnosis of Dubin-Johnson syndrome in children]. (2249271)
1990
19
A new diagnostic approach to the Dubin-Johnson syndrome. (2296972)
1990
20
Dubin-Johnson syndrome presenting with neonatal cholestasis. (2400232)
1990
21
Melanosis coli--histochemical and immunohistochemical comparison of the pigments of melanosis coli and Dubin-Johnson syndrome. (2346038)
1990
22
Hepatobiliary function studies on Dubin-Johnson syndrome using 99mTc-pyridoxyl-methyl-tryptophan (PMT). (3393702)
1988
23
Further evidence that the pigment in the Dubin-Johnson syndrome is not melanin. (2853343)
1987
24
Dubin-Johnson syndrome. (A case report and review of literature). (7108821)
1982
25
The pigment in Dubin-Johnson syndrome. (467939)
1979
26
Dubin-Johnson syndrome in a neonate. (520367)
1979
27
Dubin-Johnson Syndrome: Report of two cases in a family. (739199)
1978
28
Uroporphyrinogen III cosynthetase in liver and blood in the Dubin-Johnson syndrome. (839109)
1977
29
Dubin-Johnson syndrome (Dubin-Johnson-Sprinze disease). (1018126)
1976
30
Letter: Dubin-johnson syndrome. (1175877)
1975
31
Incidence of benign conjugated hyperbilirubinemia with pigment in the liver in Spis (Dubin-Johnson syndrome) II. Attempts at screening of carrier state by means of BSP test]. (1204005)
1975
32
Dubin-Johnson syndrome (report of 5 cases). (1232054)
1975
33
Letter: Dubin-Johnson syndrome in a neonate. (1117948)
1975
34
The inheritance of Dubin-Johnson syndrome. (4775129)
1973
35
The Dubin-Johnson syndrome and pregnancy. (4742659)
1973
36
Pregnancy, oral contraceptives, and chronic familial jaundice with predominantly conjugated hyperbilirubinemia (Dubin-Johnson syndrome). (5050316)
1972
37
Abnormal excretion of the isomers of urinary coproporphyrin by patients with Dubin-Johnson syndrome in Israel. (5539298)
1971
38
Dubin-Johnson syndrome in immature sheep. (5749221)
1968
39
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait. (5926936)
1966
40
Chronic idiopathic jaundice (Dubin--Johnson syndrome): (report of a case with a long follow-up). (5826676)
1965
41
DUBIN-JOHNSON SYNDROME WITH EXTRAHEPATIC PIGMENTATION IN A NEUROFIBROMA. REPORT OF A CASE. (14333143)
1965
42
On the relation between Dubin-Johnson syndrome and Rotor type. A case of Dubin-Johnson syndrome complicated with serum hepatitis. (5860916)
1965
43
HEPATITIS WITH RESULTING MOBILIZATION OF HEPATIC PIGMENT IN A PATIENT WITH DUBIN-JOHNSON SYNDROME. (14234683)
1964
44
ELECTRON MICROSCOPIC OBSERVATIONS ON LIVER CELLS OF CASES WITH DUBIN-JOHNSON SYNDROME. (14334655)
1964
45
THE DUBIN-JOHNSON SYNDROME. (14123788)
1964
46
Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). I. Demonstration of hepatic excretory defect. (13992285)
1963
47
Chronic idiopathic jaundice with hepatic pigmentation (Dubin-Johnson syndrome). (13695356)
1961
48
Dubin-Johnson syndrome: report of a case occurring in a Negro male. (13799514)
1960
49
A case of the Dubin-Johnson syndrome. (13835225)
1959
50
The Dubin-Johnson syndrome or chronic idiopathic jaundice; report of a case. (13546234)
1958

Variations for Dubin-Johnson Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Dubin-Johnson Syndrome:

64
id Symbol AA change Variation ID SNP ID
1ABCC2p.Arg768TrpVAR_000099rs56199535
2ABCC2p.Gln1382ArgVAR_010756
3ABCC2p.Arg1150HisVAR_013327
4ABCC2p.Ile1173PheVAR_013328

Clinvar genetic disease variations for Dubin-Johnson Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1ABCC2NM_000392.4(ABCC2): c.3196C> T (p.Arg1066Ter)single nucleotide variantPathogenicrs72558199GRCh37Chr 10, 101591826: 101591826
2ABCC2ABCC2, 168-BP DEL, NT2272deletionPathogenic
3ABCC2NM_000392.4(ABCC2): c.2302C> T (p.Arg768Trp)single nucleotide variantPathogenicrs56199535GRCh37Chr 10, 101578577: 101578577
4ABCC2ABCC2: c.1815+2T> Asingle nucleotide variantPathogenicrs387906395GRCh37Chr 10, 101567988: 101567988
5ABCC2ABCC2, IVS18DS, T-C, +2single nucleotide variantPathogenic
6ABCC2NM_000392.4(ABCC2): c.4145A> G (p.Gln1382Arg)single nucleotide variantPathogenicrs72558202GRCh37Chr 10, 101605538: 101605538
7ABCC2ABCC2: c.1967+2T> Csingle nucleotide variantPathogenicrs387906396GRCh37Chr 10, 101571361: 101571361
8ABCC2NM_000392.4(ABCC2): c.3517A> T (p.Ile1173Phe)single nucleotide variantPathogenicrs72558201GRCh37Chr 10, 101595950: 101595950
9ABCC2NM_000392.4(ABCC2): c.3449G> A (p.Arg1150His)single nucleotide variantPathogenicrs72558200GRCh37Chr 10, 101595882: 101595882

Expression for genes affiliated with Dubin-Johnson Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dubin-Johnson Syndrome

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

Pathways for genes affiliated with Dubin-Johnson Syndrome

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Sources:
50PathCards, 38NCBI BioSystems Database, 51PharmGKB, 55Reactome, 30KEGG
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Pathways related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ABCC3, ABCC2
29.9ABCC2, ABCC3
3
Show member pathways
9.9ABCC2, ABCC1
4
Show member pathways
9.8ABCC2, UGT1A1
59.8ABCC1, UGT1A1
6
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
9.8UROS, UGT1A1
7
Show member pathways
9.7TK1, ABCC3
89.6ABCC1, ABCC3, ABCC2
9
Show member pathways
9.6ABCC1, ABCC3, ABCC2
109.6ABCC1, ABCC3, ABCC2
11
Show member pathways
Codeine and morphine metabolism38
9.6UGT1A1, ABCC2, ABCC3
12
Show member pathways
9.5UGT1A1, ABCC2, ABCC1
139.5UGT1A1, ABCC3, ABCC1
14
Show member pathways
8.7ABCC3, UGT1A1, UROS, TK1, ABCC1
15
Show member pathways
8.6ABCC1, ABCC3, ABCC6, ABCC11, ABCC2
16
Show member pathways
8.2ABCC12, ABCC2, ABCC11, ABCC6, ABCC3, ABCC1

Compounds for genes affiliated with Dubin-Johnson Syndrome

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 112)
idCompoundScoreTop Affiliating Genes
1cmfda4510.3ABCC1, ABCC2
2potassium antimonyltartrate4510.2ABCC1, ABCC2
3etoposide glucuronide4510.2ABCC1, ABCC3
4fumitremorgin c4510.1ABCC1, ABCC2
5gf 1209184510.1ABCC2, ABCC1
6s-(2,4-dinitrophenyl)glutathione4510.1ABCC2, ABCC1
7estradiol-17beta-glucuronide4510.0ABCC1, ABCC2, ABCC3
8glycocholate4510.0ABCC1, ABCC3, ABCC2
9cyclosporine51 1111.0ABCC2, ABCC3, ABCC1
10ltc44510.0ABCC3, ABCC1, ABCC2
11gamma-glutamylcysteine45 24 1112.0ABCC1, ABCC3, ABCC2
12lamivudine45 51 1112.0ABCC1, ABCC3, ABCC2
13tbhq4510.0ABCC3, ABCC2, ABCC1
14psc-8334510.0ABCC2, ABCC1
15taurocholate459.9ABCC2, ABCC3, ABCC1
16ezetimibe45 1110.9ABCC2, ABCC3, UGT1A1
17myricetin45 1110.9ABCC2, ABCC1
18Glutathione24 1110.9ABCC2, ABCC1, ABCC3
19indinavir45 51 1111.9UGT1A1, ABCC1, ABCC2
20cholic acid45 29 24 1112.9ABCC1, ABCC2, ABCC3
21androstane459.9UGT1A1, ABCC3, ABCC2
22adefovir459.9ABCC1, ABCC11, ABCC2
23sulforaphane459.8UGT1A1, ABCC1, ABCC2
24benzbromarone459.8ABCC1, ABCC6, ABCC2
25ritonavir45 51 1111.8ABCC1, ABCC2, UGT1A1
26fluorouracil51 1110.8ABCC2, ABCC11, ABCC3
27leucovorin45 51 1111.8ABCC2, UGT1A1, ABCC3
28teniposide45 1110.8ABCC3, ABCC6, ABCC1
29diclofenac45 29 51 1112.8ABCC2, ABCC1, UGT1A1
30glucuronide459.7ABCC1, ABCC3, ABCC2, UGT1A1
31rifampin51 1110.7UGT1A1, ABCC3, ABCC1, ABCC2
32saquinavir45 1110.7ABCC1, ABCC3, ABCC2, UGT1A1
33rifampicin45 29 6111.7ABCC1, ABCC3, UGT1A1, ABCC2
34phenobarbital45 29 51 1112.7ABCC3, UGT1A1, ABCC2, ABCC1
35ly335979459.6ABCC2, ABCC1
36conjugated estrogens51 1110.6ABCC3, ABCC1, ABCC11, ABCC2
37Taurocholic acid24 1110.6ABCC11, ABCC2, ABCC1, ABCC3
38dactinomycin51 1110.6ABCC6, ABCC1
39acetaminophen45 3 51 24 1113.6ABCC3, ABCC2, UGT1A1
40sulfinpyrazone45 1110.6ABCC2, ABCC1, ABCC3, ABCC6
41mk 57161 4510.5ABCC3, ABCC6, ABCC2, ABCC1
42daunorubicin45 51 1111.5ABCC1, ABCC3, ABCC6, ABCC2
43vinblastine45 51 1111.5ABCC2, ABCC6, ABCC1
445fluorouracil459.4ABCC11, ABCC2, UGT1A1, ABCC1
45glucuronic acid459.2UGT1A1, ABCC2, ABCC6, ABCC3, ABCC1
46etoposide45 51 61 1112.1ABCC3, UGT1A1, ABCC6, ABCC2, ABCC1
47cisplatin45 51 61 1112.1ABCC3, ABCC1, UGT1A1, ABCC2, ABCC6
48probenecid29 45 61 51 1113.1ABCC6, ABCC11, ABCC2, ABCC1, ABCC3
49methotrexate51 45 1111.1ABCC11, ABCC3, ABCC2, ABCC6, ABCC1
50indomethacin45 29 61 1111.7ABCC6, ABCC1, ABCC3, ABCC11, ABCC2, UGT1A1

GO Terms for genes affiliated with Dubin-Johnson Syndrome

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16Gene Ontology
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Cellular components related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.8UGT1A1, ABCC2, ABCC11, ABCC3, ABCC1

Biological processes related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1response to estrogenGO:0436279.9F7, ABCC2
2porphyrin-containing compound metabolic processGO:0067789.8UROS, UGT1A1
3organ regenerationGO:0311009.5F7, UGT1A1
4transportGO:0068109.2ABCC1, ABCC3, ABCC6, ABCC2
5response to drugGO:0424939.2UGT1A1, ABCC6, ABCC1
6transmembrane transportGO:0550858.8ABCC2, ABCC11, ABCC6, ABCC3, ABCC1
7small molecule metabolic processGO:0442818.7ABCC1, ABCC3, UGT1A1, UROS, TK1

Molecular functions related to Dubin-Johnson Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1organic anion transmembrane transporter activityGO:0085149.2ABCC3, ABCC11, ABCC2
2ATPase activity, coupled to transmembrane movement of substancesGO:0426268.1ABCC12, ABCC2, ABCC11, ABCC6, ABCC3, ABCC1
3ATP bindingGO:0055247.7TK1, ABCC12, ABCC2, ABCC11, ABCC6, ABCC3

Products for genes affiliated with Dubin-Johnson Syndrome

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  • Antibodies
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Sources for Dubin-Johnson Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet