Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
0.320 GermlineCausalMutation ORPHANET These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder. 24746959

2014