Source: HPO

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: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis
disease 0.500 None 1.000 0 0 2002 2018
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0033774
Disease: Pruritus
Pruritus
phenotype 0.400 None 1.000 0 0 2007 2007
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
disease 0.180 None 0.875 0 0 2004 2018
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease 0.170 None 1.000 0 0 2005 2017
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease 0.160 None 1.000 0 0 2006 2019
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0022346
Disease: Icterus
Icterus
phenotype 0.140 None 1.000 0 0 2011 2019
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C1843392
Disease: Death in childhood
Death in childhood
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0554103
Disease: Intestinal malabsorption of fat
Intestinal malabsorption of fat
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
Conjugated hyperbilirubinemia
disease 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease 0.100 None 0 0
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C4025805
Disease: Intermittent jaundice
Intermittent jaundice
phenotype 0.100 None 0 0