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: C1839874
Disease: Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 4 0.700 strong 1.000 4 4 1997 2013
CUI: C0035091
Disease: Renal Tubular Transport, Inborn Errors
Renal Tubular Transport, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.200 None 1.000 1 2003 2003
CUI: C4016445
Disease: NEPHROLITHIASIS, X-LINKED RECESSIVE
NEPHROLITHIASIS, X-LINKED RECESSIVE 		disease Finding 1 3 0.100 None 0 3
CUI: C1845168
Disease: Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic Rickets, X-Linked Recessive 		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 2 1 0.700 None 1.000 4 1 1996 2013
CUI: C1848336
Disease: Dent disease 1
Dent disease 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 22 0.980 None 0.977 43 22 1996 2020
CUI: C1845167
Disease: Dent Disease 2
Dent Disease 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 7 0.200 None 1.000 4 2000 2003
CUI: C4305530
Disease: Dent disease type 1
Dent disease type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 3 0.020 None 1.000 2 2019 2020
CUI: C1833331
Disease: Increased serum 1,25-dihydroxyvitamin D3
Increased serum 1,25-dihydroxyvitamin D3 		phenotype Finding 3 0.100 None 0
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 4 1 0.100 None 0 1
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		phenotype Finding 5 0.100 None 0
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		phenotype Finding 5 0.100 None 0
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		phenotype Finding 6 0.100 None 0
CUI: C4024644
Disease: Multiple small medullary renal cysts
Multiple small medullary renal cysts 		disease Disease or Syndrome 6 1 0.100 None 0 1
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		phenotype Finding 8 0.100 None 0
CUI: C1845169
Disease: Renal phosphate wasting
Renal phosphate wasting 		phenotype Finding 8 0.100 None 0
CUI: C4023801
Disease: Fibular bowing
Fibular bowing 		disease Musculoskeletal Diseases Anatomical Abnormality 9 2 0.100 None 0
CUI: C0403720
Disease: X-linked recessive nephrolithiasis with renal failure
X-linked recessive nephrolithiasis with renal failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 10 1 0.620 strong 1.000 6 1 1996 2013
CUI: C1865200
Disease: Delayed epiphyseal ossification
Delayed epiphyseal ossification 		phenotype Finding 13 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: C1833325
Disease: Thin bony cortex
Thin bony cortex 		phenotype Finding 14 0.100 None 0
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 15 4 0.100 None 0
CUI: C4082764
Disease: Gastrointestinal infection
Gastrointestinal infection 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Infections Disease or Syndrome 17 0.010 None 1.000 1 2017 2017
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: C0543800
Disease: Idiopathic hypercalciuria
Idiopathic hypercalciuria 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 1 0.020 None 1.000 2 1998 2000