NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Disease: Hydrocephalus, Normal Pressure ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs547352656
rs547352656
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C0020258
Disease:
Hydrocephalus, Normal Pressure 		0.010 GeneticVariation BEFREE We screened a population of 68 Italian children (10 multiplex families, 47 sporadic cases) with a clinical and histopathologic picture of NPH and found a large homozygous deletion at 2q13 involving nephrocystin in 30 cases, and heterozygous deletion associated with new point mutations at exons 15 (Tyr518Ter) and 17 (Arg585Ter) of the gene in two other cases. 10620543 2000