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: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1
disease 0.180 None 1.000 3 21 1994 2015
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder)
disease 0.160 None 1.000 0 3 2001 2010
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder)
disease 0.100 None 0 3
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding)
phenotype 0.100 None 0 5
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin
phenotype 0.100 None 0 1
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype 0.100 None 0 1
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice
phenotype 0.100 None 0 1
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
phenotype 0.100 None 0 3
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
UDP glucuronosyltransferase family 1 member A3 0.623 0.538 1.3E-09
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2
disease 0.100 None 0 4