DisGeNET - a database of gene-disease associations

Polycystic Kidney Diseases, C0022680

Gene: NPHP3-ACAD11 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

0.110

GeneticVariation

group

BEFREE

Mutations in nephrocystin-3 (NPHP3) are the cause of human nephronophthisis type 3 and polycystic kidney disease (pcy) mouse mutants.

2010

Entrez Id:	100532724
Gene Symbol:	NPHP3-ACAD11

NPHP3-ACAD11

0.110

CausalMutation

group

CLINVAR