Condition: NEPHRONOPHTHISIS 3


rs202048210 in NPHP3-ACAD11;NPHP3 gene and NEPHRONOPHTHISIS 3 PMID 12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

rs771742823 in NPHP3-AS1;NPHP3;NPHP3-ACAD11 gene and NEPHRONOPHTHISIS 3 PMID 28921755 2017 Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.

rs142021049 in NPHP3;NPHP3-ACAD11 gene and NEPHRONOPHTHISIS 3 PMID 12872122 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.