NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Bardet-Biedl Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs190983114
rs190983114
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C0752166
Disease:
Bardet-Biedl Syndrome 		0.010 GeneticVariation BEFREE In vivo functional modeling in zebrafish embryos demonstrated that c.14G>T is a loss-of-function variant, and suppression of nphp1 in concert with each of the primary BBS loci found in our NPHP1-positive pedigrees exacerbated the severity of the phenotype. 24746959 2014