Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5256
Gene Symbol: PHKA2
PHKA2
0.100 Biomarker disease HPO
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
0.100 Biomarker disease HPO
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
0.100 Biomarker disease HPO
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2
0.100 Biomarker disease HPO
Entrez Id: 3077
Gene Symbol: HFE
HFE
0.100 Biomarker disease HPO
Entrez Id: 57511
Gene Symbol: COG6
COG6
0.100 Biomarker disease HPO
Entrez Id: 132
Gene Symbol: ADK
ADK
0.100 Biomarker disease HPO
Entrez Id: 203286
Gene Symbol: ANKS6
ANKS6
0.100 Biomarker disease HPO
Entrez Id: 567
Gene Symbol: B2M
B2M
0.100 Biomarker disease HPO
Entrez Id: 2271
Gene Symbol: FH
FH
0.100 Biomarker disease HPO
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
0.100 Biomarker disease HPO
Entrez Id: 6288
Gene Symbol: SAA1
SAA1
0.100 Biomarker disease HPO
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease HPO
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.100 Biomarker disease HPO
Entrez Id: 23600
Gene Symbol: AMACR
AMACR
0.100 Biomarker disease HPO
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
0.100 Biomarker disease HPO
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.020 Biomarker disease BEFREE Because bile secretion by hepatocytes is apparently mediated by the microfilamentous system of actin, the proposed hormonally induced dysfunction of this system could be translated to cholestasis. 2190068 1990
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.420 Therapeutic disease CTD_human ACTH-(1-24) antagonizes the cholestatic and constipating effects of morphine. 3421781 1988
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.320 Biomarker disease CTD_human Neonatal cholestasis in alpha-1-antitrypsin deficient children. Clinical, genetic, histological and immunohistochemical findings. 4117022 1972
Entrez Id: 3988
Gene Symbol: LIPA
LIPA
0.300 Biomarker disease GENOMICS_ENGLAND A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. 8254026 1993
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.300 AlteredExpression disease BEFREE Among the hereditary human cholestasis, a subtype of progressive familial intrahepatic cholestasis with high gamma-glutamyltranspeptidase (GGT) serum activity shares histological, biochemical, and genetic features with mice lacking mdr2 gene expression (mdr2 -/- mice). 8666348 1996
Entrez Id: 7076
Gene Symbol: TIMP1
TIMP1
0.200 Biomarker disease RGD Tissue inhibitor of metalloproteinase-1 messenger RNA expression is enhanced relative to interstitial collagenase messenger RNA in experimental liver injury and fibrosis. 8707259 1996
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.320 GeneticVariation disease BEFREE We believe that genetic alterations of alpha-1 antitrypsin and P-glycoprotein, either alone or in association with known pathogenetic mechanisms, may explain the onset of danazol induced cholestasis and justify the difference in its varying duration and intensity. 9360432 1997
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.030 GeneticVariation disease BEFREE We believe that genetic alterations of alpha-1 antitrypsin and P-glycoprotein, either alone or in association with known pathogenetic mechanisms, may explain the onset of danazol induced cholestasis and justify the difference in its varying duration and intensity. 9360432 1997
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
0.100 Biomarker disease BEFREE Its protein product is likely to play an essential role in enterohepatic circulation of bile acids; further characterization of FIC1 will facilitate understanding of normal bile formation and cholestasis. 9500542 1998