Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		disease 0.200 None 1.000 3 21 1994 2015
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		disease 0.200 None 1.000 0 3 1996 2019
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		disease 0.100 None 0 3
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		phenotype 0.100 None 0 5
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin 		phenotype 0.100 None 0 1
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype 0.100 None 0 1
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		phenotype 0.100 None 0 1
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C1866173
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		phenotype 0.100 None 0 3
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4 		UDP glucuronosyltransferase family 1 member A4 0.595 0.654 6.0E-07
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		disease 0.100 None 0 4