Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Neonatal Dubin-Johnson syndrome: novel compound heterozygous mutation in the ABCC2 gene. 25336012

2014
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells. 22290738

2012
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Polymorphism of the ABC transporter genes, MDR1, MRP1 and MRP2/cMOAT, in healthy Japanese subjects. 11266082

2001
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT One mutation, 3517A-->T, predicting a I1173F substitution, was found in 22 homozygous Iranian Jewish DJS patients from 13 unrelated families and a second mutation, 3449G-->A, predicting a R1150H substitution, was found in 5 homozygous Moroccan Jewish DJS patients from 4 unrelated families. 11477083

2001
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT 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
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome. 10464142

1999
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT 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
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.810 GeneticVariation UNIPROT Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. 9425227

1998
dbSNP: rs72558200
rs72558200
ABCC2
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		A 0.810 CausalMutation CLINVAR