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Gene table of PKHD1 :
polycystic kidney and hepatic disease 1 (autosomal recessive)
Gene-disease associations table
Disease ID
Disease name
Source of annotation with PKHD1
OMIM link
Number of associated genes
genes
263200
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
ClinVar, OMIM, HUMSAVAR
link to OMIM
1
PKHD1
Download the gene annotation in CSV format
Annotation of the gene PKHD1
Associated genes in ENSEMBL
ENSG00000170927
Associated proteins - SwissProt Accession ID
P08F94
Associated PDB IDs
Cytogenetic Band
6p12.2
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO term
GO ID
GO IC
molecular transducer activity
GO:0060089
2.32
receptor activity
GO:0004872
2.32
protein binding
GO:0005515
0.46
binding
GO:0005488
0.18