DISEASES

Disease-gene associations mined from literature

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Human genes for progressive familial intrahepatic cholestasis 1

Progressive familial intrahepatic cholestasis 1 [DOID:0070226]

A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21.

Synonyms:  progressive familial intrahepatic cholestasis 1,  DOID:0070226,  progressive hereditary intrahepatic cholestasis 1,  FIC1 deficiency,  PFIC1

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.