DisGeNET - a database of gene-disease associations

NPHP3-ACAD11, NPHP3-ACAD11 readthrough (NMD candidate), 100532724

N. diseases: 82; N. variants: 51

Disease: Polycystic Kidney Diseases ×

Source: ALL

Results per page

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0022680
Disease:	Polycystic Kidney Diseases

Polycystic Kidney Diseases

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.

20462968

2010

CUI:	C0022680
Disease:	Polycystic Kidney Diseases

Polycystic Kidney Diseases

0.110

CausalMutation

group

CLINVAR