DisGeNET - a database of gene-disease associations

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

N. diseases: 82; N. variants: 51

Disease: Situs Inversus ×

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:

rs751527253

Entrez Id:	27031;100532724
Gene Symbol:	NPHP3;NPHP3-ACAD11

NPHP3;NPHP3-ACAD11

CUI:	C0037221
Disease:

Situs Inversus

0.700

CausalMutation

CLINVAR

Characterizing the morbid genome of ciliopathies.

27894351

2016

dbSNP:

rs751527253

Entrez Id:	27031;100532724
Gene Symbol:	NPHP3;NPHP3-ACAD11

NPHP3;NPHP3-ACAD11

CUI:	C0037221
Disease:

Situs Inversus

0.700

CausalMutation

CLINVAR

Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping.

20007846

2010

dbSNP:

rs751527253

Entrez Id:	27031;100532724
Gene Symbol:	NPHP3;NPHP3-ACAD11

NPHP3;NPHP3-ACAD11

CUI:	C0037221
Disease:

Situs Inversus

0.700

CausalMutation

CLINVAR

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.

18371931

2008