DisGeNET - a database of gene-disease associations

PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin, 5314

N. diseases: 115; N. variants: 324

Disease: Polycystic Kidney Diseases ×

Variant: rs1057518952 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057518952

rs1057518952

Entrez Id:	5314
Gene Symbol:	PKHD1

PKHD1

CUI:	C0022680
Disease:

Polycystic Kidney Diseases

AC

0.700

CausalMutation

CLINVAR