MCID: DBN001
MIFTS: 56

Dubin-Johnson Syndrome

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

Aliases & Classifications for Dubin-Johnson Syndrome

MalaCards integrated aliases for Dubin-Johnson Syndrome:

Name: Dubin-Johnson Syndrome 53 12 49 24 55 71 28 13 51 14
Djs 53 49 24 71
Conjugated Hyperbilirubinemia 49 28 69
Jaundice, Chronic Idiopathic 24 41 69
Chronic Idiopathic Jaundice 12 49
Hyperbilirubinemia Type 2 49 55
Hyperbilirubinemia Ii 53 24
Hyperbilirubinemia, Dubin-Johnson Type; Hblrdj 53
Hyperbilirubinemia, Dubin-Johnson Type 53
Dubin Johnson Syndrome 12
Sprinz-Nelson Syndrome 55
Hyperbilirubinemia 2 49
Dubin-Sprinz Disease 55
Hblrdj 53

Characteristics:

Orphanet epidemiological data:

55
dubin-johnson syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
most patients are asymptomatic
icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness
increased frequency in persian jews (1:1,300)


HPO:

31
dubin-johnson syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 237500
Disease Ontology 12 DOID:12308
ICD10 32 E80.6
MeSH 41 D007566
NCIt 46 C34741
SNOMED-CT 64 44553005
Orphanet 55 ORPHA234
MESH via Orphanet 42 D007566
UMLS via Orphanet 70 C0022350
ICD10 via Orphanet 33 E80.6
MedGen 39 C0022350

Summaries for Dubin-Johnson Syndrome

NIH Rare Diseases : 49 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 djs, is related to hyperbilirubinemia, rotor type and bilirubin metabolic disorder, and has symptoms including fatigue, fever and abdominal pain. An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP Binding Cassette Subfamily C Member 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glucose / Energy Metabolism. The drugs Iron and Bilirubin have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, and related phenotype is Decreased Salmonella enterica Typhimurium invasion.

OMIM : 53 Dubin-Johnson syndrome is an 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 (summary by Wada et al., 1998). (237500)

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 24 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.

Disease Ontology : 12 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.

Related Diseases for Dubin-Johnson Syndrome

Diseases related to Dubin-Johnson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 hyperbilirubinemia, rotor type 32.2 ABCC2 SLCO1B1
2 bilirubin metabolic disorder 29.9 ABCC1 ABCC2 SLCO1B1
3 cholestasis 29.6 ABCC2 ABCC3 ABCC4 SLCO1B1
4 intrahepatic cholestasis 29.5 ABCC2 ABCC3 SLCO1B1
5 gilbert syndrome 11.3
6 crigler-najjar syndrome, type ii 11.3
7 x-linked intellectual disability-macrocephaly-macroorchidism syndrome 11.1
8 hepatitis 10.7
9 hepatocellular carcinoma 10.3
10 factor vii deficiency 10.3
11 viral hepatitis 10.3
12 blood group, i system 10.0
13 fibrosis of extraocular muscles, congenital, 1 10.0
14 systemic lupus erythematosus 10.0
15 abetalipoproteinemia 10.0
16 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.0
17 aging 10.0
18 mycobacterium tuberculosis 1 10.0
19 hemangioma 10.0
20 liver cirrhosis 10.0
21 liver disease 10.0
22 thalassemia 10.0
23 thrombosis 10.0
24 cholelithiasis 10.0
25 cholecystolithiasis 10.0
26 portal vein thrombosis 10.0
27 choledocholithiasis 10.0
28 hemosiderosis 10.0
29 hereditary spherocytosis 10.0
30 congenital dyserythropoietic anemia 10.0
31 hepatitis c 10.0
32 neonatal jaundice 10.0
33 purpura 10.0
34 cavernous hemangioma 10.0
35 pneumonia 10.0
36 lupus erythematosus 10.0
37 neurofibroma 10.0
38 dwarfism 10.0
39 bile duct carcinoma 10.0 ABCC2 ABCC3
40 extrahepatic cholestasis 9.9 ABCC1 ABCC2 ABCC3
41 bile duct disease 9.9 ABCC2 ABCC3 ABCC4
42 biliary tract disease 9.8 ABCC2 ABCC3 ABCC4
43 pseudoxanthoma elasticum 9.8 ABCC1 ABCC2
44 primary biliary cirrhosis 9.5 ABCC2 ABCC3 SLCO1B1

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



Diseases related to Dubin-Johnson Syndrome

Symptoms & Phenotypes for Dubin-Johnson Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
jaundice

Laboratory Abnormalities:
conjugated hyperbilirubinemia
routine liver function tests normal
normal serum bile acids
characteristic urinary coproporphyrin pattern (mostly isomer i (80%) instead of isomer iii)
normal total urinary coproporphyrin
more
Abdomen Liver:
cholestasis
coarse pigment in centrilobular cells
black liver

Abdomen Biliary Tract:
nonvisualization of gallbladder (oral cholecystography)


Clinical features from OMIM:

237500

Human phenotypes related to Dubin-Johnson Syndrome:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 occasional (7.5%) Occasional (29-5%) HP:0012378
2 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
3 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
4 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
5 jaundice 55 31 hallmark (90%) Very frequent (99-80%) HP:0000952
6 biliary tract abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0001080
7 abnormality of the gastric mucosa 55 31 frequent (33%) Frequent (79-30%) HP:0004295
8 abnormality of coagulation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001928
9 abnormal urinary color 55 31 hallmark (90%) Very frequent (99-80%) HP:0012086
10 conjugated hyperbilirubinemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002908
11 abnormality of the liver 55 Very frequent (99-80%)

UMLS symptoms related to Dubin-Johnson Syndrome:


jaundice (not of newborn), icterus

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 8.8 ABCC1 ABCC4 F7

Drugs & Therapeutics for Dubin-Johnson Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925
2
Bilirubin 635-65-4 5280352
3 Hematinics
4 Liver Extracts
5 Antioxidants
6 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
2 Conjugated Hyperbilirubinemia and Pulse Oximetry Terminated NCT00741117

Search NIH Clinical Center for Dubin-Johnson Syndrome

Cochrane evidence based reviews: jaundice, chronic idiopathic

Genetic Tests for Dubin-Johnson Syndrome

Genetic tests related to Dubin-Johnson Syndrome:

# Genetic test Affiliating Genes
1 Dubin-Johnson Syndrome 28 ABCC2
2 Conjugated Hyperbilirubinemia 28

Anatomical Context for Dubin-Johnson Syndrome

MalaCards organs/tissues related to Dubin-Johnson Syndrome:

38
Liver, Skin, Eye, Testes, Colon

Publications for Dubin-Johnson Syndrome

Articles related to Dubin-Johnson Syndrome:

(show top 50) (show all 184)
# Title Authors Year
1
Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28923092 )
2017
2
Correction to: Dubin-Johnson syndrome and intrahepatic cholestasis of pregnancy in a Sri Lankan family: a case report. ( 28982379 )
2017
3
Conjugated hyperbilirubinemia after surgery. A diagnosis of Dubin-Johnson syndrome confirmed by genetic testing. ( 29032691 )
2017
4
IMAGES IN CLINICAL MEDICINE. Dubin-Johnson Syndrome. ( 27406372 )
2016
5
Treatment for tuberculosis in a patient with Dubin-Johnson syndrome. ( 26264947 )
2015
6
Neonatal Dubin-Johnson syndrome: Novel compound heterozygous mutation in the ABCC2 gene. ( 25336012 )
2014
7
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome. ( 23045960 )
2013
8
Dubin-Johnson syndrome with multiple liver cavernous hemangiomas: report of a familial case. ( 24228133 )
2013
9
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis. ( 23429660 )
2013
10
Hepatectomy in a hepatocellular carcinoma case with Dubin-Johnson syndrome and indocyanine green excretory defect. ( 26181407 )
2013
11
Dubin-Johnson syndrome with cholecystolithiasis and choledocholithiasis. ( 23708305 )
2013
12
Novel mutations in the Dubin-Johnson syndrome gene ABCC2/MRP2 and associated biochemical changes. ( 23065530 )
2012
13
Living donor liver transplantation using a graft from a donor with Dubin-Johnson syndrome. ( 20819184 )
2012
14
Severe jaundice due to coexistence of Dubin-Johnson syndrome and hereditary spherocytosis: a case report. ( 21948575 )
2011
15
Dubin-Johnson syndrome presenting after acute viral hepatitis. ( 24834177 )
2011
16
Persistent cholestasis following cholecystectomy: a case of Dubin-Johnson syndrome. ( 20227718 )
2010
17
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome. ( 21044052 )
2010
18
Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome. ( 19881259 )
2009
19
Quiz HQ 45. A rare case of conjugated hyperbilirubinemia. Dubin-Johnson syndrome. ( 18697280 )
2008
20
Dubin-Johnson syndrome. ( 18460254 )
2008
21
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
22
Ultrastructure of Kupffer cells and hepatocytes in the Dubin-Johnson syndrome: a case report. ( 16521235 )
2006
23
Neonatal Dubin-Johnson syndrome: long-term follow-up and MRP2 mutations study. ( 16549534 )
2006
24
Autopsy case of Dubin-Johnson syndrome with pneumonia and abetalipoproteinemia-like lipid profile. ( 16835471 )
2006
25
Dubin-Johnson syndrome with systemic lupus erythematosus: a case report. ( 17085354 )
2006
26
Dubin-Johnson syndrome--a clinicopathologic study of twenty cases. ( 17183837 )
2006
27
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
28
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome. ( 16012956 )
2005
29
A potential Dubin-Johnson syndrome imaging agent: synthesis, biodistribution, and microPET imaging. ( 15967123 )
2005
30
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan. ( 15870973 )
2005
31
A novel ancestral splicing mutation in the multidrug resistance protein 2 gene causes Dubin-Johnson syndrome in Ashkenazi Jewish patients. ( 15777714 )
2005
32
Mutation analysis of the multidrug resistance protein 2 (MRP2) gene in a Japanese patient with Dubin-Johnson syndrome. ( 15519272 )
2004
33
Improvement of serum bilirubin levels after venesection in a patient with Dubin-Johnson syndrome and HCV-positive chronic liver disease. ( 15565411 )
2004
34
Hepatocellular carcinoma in a case of Dubin-Johnson syndrome treated successfully with a central bilateral segmentectomy. ( 15143928 )
2004
35
Novel mutations identified in the human multidrug resistance-associated protein 2 (MRP2/ABCC2) gene in a Japanese patient with Dubin-Johnson syndrome. ( 14662121 )
2003
36
Identification of a novel 2026G-->C mutation of the MRP2 gene in a Japanese patient with Dubin-Johnson syndrome. ( 12884082 )
2003
37
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). ( 12388192 )
2003
38
Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. ( 12942343 )
2003
39
[Dubin-Johnson syndrome: molecular basis and pathogenesis]. ( 12416362 )
2002
40
Association of Dubin-Johnson syndrome and portal vein thrombosis. ( 12118928 )
2002
41
Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid. ( 12012642 )
2002
42
Trafficking and functional defects by mutations of the ATP-binding domains in MRP2 in patients with Dubin-Johnson syndrome. ( 12395335 )
2002
43
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
44
Hepatobiliary scintigraphy in an exacerbation of Dubin-Johnson syndrome. ( 11416756 )
2001
45
Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin- Johnson syndrome. ( 11477083 )
2001
46
Incipient perisinusoidal fibrosis in an adult patient with Dubin-Johnson syndrome. ( 10979180 )
2000
47
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
48
Congenital extrahepatic portocaval shunt associated with hepatic hyperplastic nodules in a patient with Dubin-Johnson syndrome. ( 11029086 )
2000
49
Cholescintigraphy in Dubin-Johnson syndrome. ( 14600921 )
1999
50
Genomic structure of the canalicular multispecific organic anion- transporter gene (MRP2/cMOAT) and mutations in the ATP-binding- cassette region in Dubin-Johnson syndrome. ( 10053008 )
1999

Variations for Dubin-Johnson Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 ABCC2 p.Arg768Trp VAR_000099 rs56199535
2 ABCC2 p.Gln1382Arg VAR_010756 rs72558202
3 ABCC2 p.Arg1150His VAR_013327 rs72558200
4 ABCC2 p.Ile1173Phe VAR_013328 rs72558201

ClinVar genetic disease variations for Dubin-Johnson Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC2 NM_000392.4(ABCC2): c.2302C> T (p.Arg768Trp) single nucleotide variant Pathogenic rs56199535 GRCh37 Chromosome 10, 101578577: 101578577
2 ABCC2 NM_000392.4(ABCC2): c.1815+2T> A single nucleotide variant Pathogenic rs387906395 GRCh37 Chromosome 10, 101567988: 101567988
3 ABCC2 ABCC2, IVS18DS, T-C, +2 single nucleotide variant Pathogenic
4 ABCC2 NM_000392.4(ABCC2): c.4145A> G (p.Gln1382Arg) single nucleotide variant Pathogenic rs72558202 GRCh37 Chromosome 10, 101605538: 101605538
5 ABCC2 NM_000392.4(ABCC2): c.1967+2T> C single nucleotide variant Pathogenic rs387906396 GRCh37 Chromosome 10, 101571361: 101571361
6 ABCC2 NM_000392.4(ABCC2): c.3517A> T (p.Ile1173Phe) single nucleotide variant Pathogenic rs72558201 GRCh37 Chromosome 10, 101595950: 101595950
7 ABCC2 NM_000392.4(ABCC2): c.3449G> A (p.Arg1150His) single nucleotide variant Pathogenic rs72558200 GRCh37 Chromosome 10, 101595882: 101595882
8 ABCC2 NM_000392.4(ABCC2): c.3196C> T (p.Arg1066Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72558199 GRCh37 Chromosome 10, 101591826: 101591826
9 ABCC2 ABCC2, 168-BP DEL, NT2272 deletion Pathogenic
10 ABCC2 NM_000392.4(ABCC2): c.1967+1G> A single nucleotide variant Pathogenic rs146405172 GRCh37 Chromosome 10, 101571360: 101571360
11 ABCC2 NM_000392.4(ABCC2): c.2901C> A (p.Tyr967Ter) single nucleotide variant Pathogenic rs17222547 GRCh37 Chromosome 10, 101591385: 101591385
12 ABCC2 NM_000392.4(ABCC2): c.3741+1G> A single nucleotide variant Pathogenic rs34937870 GRCh37 Chromosome 10, 101601851: 101601851
13 ABCC2 NM_000392.4(ABCC2): c.1013_1014delTG (p.Val338Glufs) deletion Pathogenic rs864309675 GRCh37 Chromosome 10, 101559109: 101559110
14 ABCC2 NM_000392.4(ABCC2): c.2125T> C (p.Trp709Arg) single nucleotide variant Pathogenic rs764958537 GRCh37 Chromosome 10, 101577095: 101577095
15 ABCC2 NM_000392.4(ABCC2): c.3399_3400delTT (p.Tyr1134Cysfs) deletion Pathogenic rs886044573 GRCh37 Chromosome 10, 101594277: 101594278
16 ABCC2 NM_000392.4(ABCC2): c.974C> G (p.Ser325Ter) single nucleotide variant Pathogenic rs371866713 GRCh37 Chromosome 10, 101559070: 101559070

Expression for Dubin-Johnson Syndrome

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

Pathways for Dubin-Johnson Syndrome

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1
2 12.28 ABCC1 ABCC2 ABCC3 ABCC4
3 11.9 ABCC2 ABCC3 ABCC4
4
Show member pathways
11.87 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1
5
Show member pathways
11.63 ABCC2 ABCC4 SLCO1B1
6
Show member pathways
11.58 ABCC2 ABCC3 ABCC4
7 11.56 ABCC2 ABCC3 ABCC4 SLCO1B1
8
Show member pathways
11.39 ABCC1 ABCC2 SLCO1B1
9
Show member pathways
11.21 ABCC2 ABCC3 SLCO1B1
10
Show member pathways
11.2 ABCC1 ABCC2
11 11.14 ABCC2 ABCC3
12 11.09 ABCC2 ABCC3
13 11.05 ABCC1 ABCC2 ABCC3 ABCC4
14 10.99 ABCC2 ABCC3 ABCC4
15 10.93 ABCC1 ABCC2
16 10.72 ABCC1 ABCC3
17 10.71 ABCC1 ABCC2 ABCC3 ABCC4
18 10.65 ABCC1 ABCC2
19 10.54 ABCC1 ABCC2 ABCC3
20 10.49 ABCC2 ABCC3 ABCC4 SLCO1B1
21
Show member pathways
10.32 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1

GO Terms for Dubin-Johnson Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.35 ABCC1 ABCC2 ABCC3 ABCC4 SLCO1B1
2 basolateral plasma membrane GO:0016323 8.92 ABCC1 ABCC3 ABCC4 SLCO1B1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.88 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4 SLCO1B1
2 response to drug GO:0042493 9.65 ABCC1 ABCC2 ABCC4
3 response to estrogen GO:0043627 9.49 ABCC2 F7
4 bile acid and bile salt transport GO:0015721 9.46 ABCC3 SLCO1B1
5 organic anion transport GO:0015711 9.43 ABCC2 SLCO1B1
6 transmembrane transport GO:0055085 9.43 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4 SLCO1B1
7 xenobiotic transport GO:0042908 9.37 ABCC1 ABCC3
8 drug transmembrane transport GO:0006855 9.33 ABCC1 ABCC2 ABCC3
9 thyroid hormone transport GO:0070327 9.32 ABCC2 SLCO1B1
10 canalicular bile acid transport GO:0015722 9.26 ABCC2 ABCC3
11 ATP hydrolysis coupled anion transmembrane transport GO:0099133 8.92 ABCC1 ABCC2 ABCC3 ABCC4

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.8 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
2 ATPase activity GO:0016887 9.55 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4
3 transporter activity GO:0005215 9.5 ABCC1 ABCC2 ABCC3
4 organic anion transmembrane transporter activity GO:0008514 9.37 ABCC2 ABCC3
5 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.26 ABCC1 ABCC3
6 ATPase-coupled anion transmembrane transporter activity GO:0043225 9.26 ABCC1 ABCC2 ABCC3 ABCC4
7 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.02 ABCC1 ABCC12 ABCC2 ABCC3 ABCC4

Sources for Dubin-Johnson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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