DisGeNET - a database of gene-disease associations

PKD1, polycystin 1, transient receptor potential channel interacting, 5310

N. diseases: 217; N. variants: 201

Disease: Multicystic Dysplastic Kidney ×

Variant: rs1555454847 ×

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:

rs1555454847

rs1555454847

Entrez Id:	5310
Gene Symbol:	PKD1

PKD1

CUI:	C3714581
Disease:

Multicystic Dysplastic Kidney

G

0.700

CausalMutation

CLINVAR