Disease: Nephronophthisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 CausalMutation disease CLINVAR PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. 19914852 2010
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 CausalMutation disease CLINVAR Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). 15698423 2005
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 CausalMutation disease CLINVAR Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. 15805161 2005
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 CausalMutation disease CLINVAR PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. 11898128 2002
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.110 Biomarker disease BEFREE Although less is known about the PKHD-encoded fibrocystin responsible for ARPKD or about the NPH1-encoded nephrocystin responsible for nephronophthisis, it is proposed that they function in the same cellular pathway involving protein-protein interactions, signal transduction and regulation of gene transcription. 12536190 2002