NPHP1, nephrocystin 1, 4867

N. diseases: 126; N. variants: 11
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) 		0.610 Biomarker disease CTD_human
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. 22982934 2012
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience. 22982934 2012
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. 15689444 2005
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.610 Biomarker disease BEFREE Presently, seven genes (NPHP1-6 and NPHP10) have been associated with Senior-Løken syndrome. 24674142 2013
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.610 GermlineCausalMutation disease ORPHANET Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. 22819833 2012