NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: Renal dysplasia and retinal aplasia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 GermlineCausalMutation disease ORPHANET Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. 22819833 2012
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 GeneticVariation disease BEFREE This region contained two known ciliopathy genes: NPHP3 (adolescent nephronophthisis) and IQCB1 (NPHP5), which is associated with Senior-Löken syndrome. 20007846 2010
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 Biomarker disease GENOMICS_ENGLAND
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.510 Biomarker disease GENOMICS_ENGLAND