CEP83, centrosomal protein 83, 51134

N. diseases: 15; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 24882706 2014
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 GeneticVariation disease UNIPROT Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 24882706 2014
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 CausalMutation disease CLINVAR
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 Biomarker disease CTD_human
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.310 GeneticVariation disease BEFREE In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals. 24882706 2014
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2 		0.310 GermlineCausalMutation disease ORPHANET In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals. 24882706 2014
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. 30061609 2018
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.100 GeneticVariation phenotype GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.100 GeneticVariation phenotype GWASDB TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression. 23518928 2013
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial 		0.100 Biomarker disease HPO
CUI: C0445347
Disease: Thickening of glomerular basement membrane
Thickening of glomerular basement membrane 		0.100 Biomarker phenotype HPO
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.100 Biomarker disease HPO
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		0.100 Biomarker phenotype HPO
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.100 Biomarker disease HPO
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment 		0.100 Biomarker phenotype HPO
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies 		0.010 GeneticVariation group BEFREE In summary, we have identified mutations in CEP83, another DAP-component-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals. 24882706 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. 24882706 2014