Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
0.330 GeneticVariation disease BEFREE Transplantation for infantile nephronophthisis with loss-of-function mutation in NPHP3: Lesson from a case. 29869359 2018
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
0.330 GermlineCausalMutation disease ORPHANET In this group of infantile NPHP patients, mutations of NPHP3 were prevalent, whereas mutation of NPHP2 was absent. 26184788 2016
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
0.330 GeneticVariation disease BEFREE The present study was designed to explore mutations of NPHP2 and NPHP3 and clinical features in 18 Chinese infantile nephronophthisis (NPHP) patients. 26184788 2016
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
0.330 GeneticVariation disease BEFREE Here we screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations. 19177160 2009
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3
0.330 GermlineCausalMutation disease ORPHANET Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008