ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.800 GeneticVariation disease CLINVAR
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.800 Biomarker disease CTD_human
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		0.700 Biomarker disease CTD_human
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		0.700 CausalMutation disease CLINVAR
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C4551899
Disease: Cholestasis, benign recurrent intrahepatic 1
Cholestasis, benign recurrent intrahepatic 1 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3549845
Disease: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 		0.600 CausalMutation disease CLINVAR
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		0.580 Biomarker disease CTD_human
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 CausalMutation disease CLINVAR
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.480 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.300 GeneticVariation disease UNIPROT
CUI: C3489728
Disease: Familial intrahepatic cholestasis of pregnancy
Familial intrahepatic cholestasis of pregnancy 		0.300 Biomarker disease CTD_human
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.120 Biomarker phenotype HPO
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.120 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus 		0.110 Biomarker phenotype HPO
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.110 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0033774
Disease: Pruritus
Pruritus 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO