CEP83, centrosomal protein 83, 51134

N. diseases: 15; N. variants: 15
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0201952
Disease: Chloride measurement
Chloride measurement
phenotype Laboratory Procedure 16 19 0.100 None 1.000 1 1 2018 2018
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 0.010 None 1.000 1 2014 2014
CUI: C1443016
Disease: Estradiol level result
Estradiol level result
phenotype Laboratory or Test Result 21 75 0.100 None 1.000 1 3 2013 2013
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement
phenotype Laboratory Procedure 21 75 0.100 None 1.000 1 3 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2014 2014
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 92 6 0.100 None 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.100 None 0
CUI: C3890591
Disease: NEPHRONOPHTHISIS 18
NEPHRONOPHTHISIS 18
disease Disease or Syndrome 1 8 0.700 strong 1.000 1 8 2014 2014
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 7 0.310 None 1.000 1 2014 2014
CUI: C0337443
Disease: Sodium measurement
Sodium measurement
phenotype Laboratory Procedure 53 69 0.100 None 1.000 1 1 2018 2018
Thickening of glomerular basement membrane
phenotype Finding 7 0.100 None 0
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy
phenotype Finding 17 1 0.100 None 0
CUI: C4521759
Disease: Tubular Atrophy Assessment
Tubular Atrophy Assessment
phenotype Diagnostic Procedure 17 0.100 None 0
CUI: C0042834
Disease: Vital capacity
Vital capacity
phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2018 2018