Gene table of PKHD1 : polycystic kidney and hepatic disease 1 (autosomal recessive)

Gene-disease associations table

Disease IDDisease nameSource of annotation with PKHD1OMIM linkNumber of associated genesgenes
263200POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVEClinVar, OMIM, HUMSAVAR link to OMIM 1PKHD1

Download the gene annotation in CSV format

Annotation of the gene PKHD1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
molecular transducer activityGO:00600892.32
receptor activityGO:00048722.32
protein bindingGO:00055150.46
bindingGO:00054880.18