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: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease 0.500 strong 0.938 0 0 2003 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease 0.450 None 1.000 0 0 1996 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008311
Disease: Cholangitis
Cholangitis 		disease 0.410 None 1.000 0 0 1996 2017
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		disease 0.400 None 1.000 0 0 2001 2015
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease 0.300 None 1.000 0 0 1998 2018
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0856727
Disease: Cholesterol gallstones
Cholesterol gallstones 		disease 0.170 None 1.000 0 0 2001 2014
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		disease 0.150 None 0.800 0 0 1997 2018
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0267818
Disease: Bile duct proliferation
Bile duct proliferation 		disease 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C3714745
Disease: Malabsorption
Malabsorption 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C4021882
Disease: Increased serum bile acid concentration during pregnancy
Increased serum bile acid concentration during pregnancy 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0151849
Disease: Alkaline phosphatase raised
Alkaline phosphatase raised 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0011991
Disease: Diarrhea
Diarrhea 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		disease 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0022346
Disease: Icterus
Icterus 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		group 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		disease 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0033774
Disease: Pruritus
Pruritus 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype 0.100 None 0 0
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4 		ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C4021883
Disease: Abnormal liver function tests during pregnancy
Abnormal liver function tests during pregnancy 		disease 0.100 None 0 0