NPHP4, nephrocystin 4, 261734

N. diseases: 46; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 Biomarker disease GENOMICS_ENGLAND Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis. 26346198 2016
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 GeneticVariation disease UNIPROT NPHP4 variants are associated with pleiotropic heart malformations. 22550138 2012
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 Biomarker disease MGD Homozygous mutant Nphp4(nmf192/nmf192) mice do not exhibit renal defects, phenotypes observed in human patients bearing mutations in NPHP4, but they do develop severe photoreceptor degeneration and extinguished rod and cone ERG responses by 9 weeks of age. 21078623 2011
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 GeneticVariation disease UNIPROT Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. 17558407 2007
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 GeneticVariation disease UNIPROT Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. 16339905 2005
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 GeneticVariation disease UNIPROT Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. 15776426 2005
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 Biomarker disease GENOMICS_ENGLAND The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 12244321 2002
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 GeneticVariation disease UNIPROT The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 12244321 2002
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 GeneticVariation disease UNIPROT A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 Biomarker disease GENOMICS_ENGLAND A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 GeneticVariation disease CLINVAR A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 12205563 2002
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 Biomarker disease CTD_human
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 CausalMutation disease CLINVAR
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1847013
Disease: NEPHRONOPHTHISIS 4
NEPHRONOPHTHISIS 4 		0.900 Biomarker disease GENOMICS_ENGLAND
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