CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
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: C3536984
Disease: Vitamin D-Resistant Rickets, X-Linked
Vitamin D-Resistant Rickets, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 48 3 0.300 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.100 None 0
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		phenotype Finding 67 0.100 None 0
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		phenotype Finding 13 0.100 None 0
CUI: C1859461
Disease: Femoral bowing
Femoral bowing 		phenotype Musculoskeletal Diseases Finding 38 13 0.100 None 0
CUI: C1858395
Disease: Tubular atrophy
Tubular atrophy 		phenotype Finding 17 1 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		phenotype Finding 67 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C0151825
Disease: Bone pain
Bone pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.100 None 0
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.100 None 0
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 391 7 0.100 None 0
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		phenotype Nutritional and Metabolic Diseases Finding 32 1 0.100 None 0 1
CUI: C0017979
Disease: Glycosuria
Glycosuria 		phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 53 7 0.100 None 0
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 69 5 0.100 None 0
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 23 1 0.300 None 0
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		phenotype Pathological Conditions, Signs and Symptoms Finding 60 5 0.100 None 0
CUI: C1857395
Disease: De Toni-Debre-Fanconi Syndrome
De Toni-Debre-Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 2 0.010 None < 0.001 1 2007 2007
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.010 None < 0.001 1 2007 2007
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 51 314 0.010 None < 0.001 1 2019 2019
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.010 None < 0.001 1 2007 2007
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 52 3 0.010 None < 0.001 1 2007 2007
CUI: C0878681
Disease: Dent's disease
Dent's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.900 None 0.949 78 12 1978 2019
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.200 None 0.952 21 2 1995 2009