NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.330 Biomarker disease BEFREE Given these observations, we investigated the contribution of NPHP1 in Bardet-Biedl syndrome (BBS), a ciliopathy of intermediate severity. 24746959 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.330 Biomarker disease BEFREE Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." 19118152 2009
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.330 GeneticVariation disease BEFREE Positional cloning of six novel genes (NPHP1 through 6) as mutated in NPHP and functional characterization of their encoded proteins have contributed to the concept of "ciliopathies." 17513324 2007
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.330 Biomarker disease GENOMICS_ENGLAND