DisGeNET - a database of gene-disease associations

Nephronophthisis, C0687120

Variant: rs751527253 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs751527253

NPHP3 ; NPHP3-ACAD11

0.700

CausalMutation

CLINVAR

Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies.

26673778

2016

dbSNP:

rs751527253

NPHP3 ; NPHP3-ACAD11

0.700

CausalMutation

CLINVAR

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

23559409

2013

dbSNP:

rs751527253

NPHP3 ; NPHP3-ACAD11

0.700

CausalMutation

CLINVAR

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

20007846

2010

dbSNP:

rs751527253

NPHP3 ; NPHP3-ACAD11

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