NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Disease: SENIOR-LOKEN SYNDROME 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 GeneticVariation disease UNIPROT NPHP4 variants are associated with pleiotropic heart malformations. 22550138 2012
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 GeneticVariation disease UNIPROT Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans. 21546380 2011
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 GeneticVariation disease UNIPROT Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 15776426 2005
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 GeneticVariation disease CLINVAR A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 GeneticVariation disease UNIPROT The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 12244321 2002
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 Biomarker disease GENOMICS_ENGLAND A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 Biomarker disease CTD_human
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 CausalMutation disease CLINVAR
CUI: C1846979
Disease: SENIOR-LOKEN SYNDROME 4
SENIOR-LOKEN SYNDROME 4 		0.700 Biomarker disease GENOMICS_ENGLAND