Gene: NPHP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1 		0.320 GeneticVariation disease BEFREE The compound heterozygous variants were probably responsible for the BBS phenotype in this Chinese pedigree and the missense mutations in NPHP1 and BBS9 might contribute to the mutation load. 28624958 2017
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1 		0.320 GermlineCausalMutation disease 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
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1 		0.320 GeneticVariation disease BEFREE These results suggest that NPHP1 mutations are probably rare primary causes of BBS that contribute to the mutational burden of the disorder. 24746959 2014