CLCN5, chloride voltage-gated channel 5, 1184

N. diseases: 101; N. variants: 37
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017979
Disease: Glycosuria
Glycosuria 		0.100 Biomarker phenotype HPO
CUI: C0020438
Disease: Hypercalciuria
Hypercalciuria 		0.100 Biomarker phenotype HPO
CUI: C0020461
Disease: Hyperkalemia
Hyperkalemia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0.100 Biomarker phenotype HPO
CUI: C0151825
Disease: Bone pain
Bone pain 		0.100 Biomarker phenotype HPO
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		0.100 Biomarker disease HPO
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		0.100 Biomarker phenotype HPO
CUI: C0282201
Disease: Phosphate Diabetes
Phosphate Diabetes 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0544755
Disease: Genu varum
Genu varum 		0.100 Biomarker phenotype HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.100 Biomarker disease HPO
CUI: C1833324
Disease: Sparse bone trabeculae
Sparse bone trabeculae 		0.100 Biomarker phenotype HPO
CUI: C1833325
Disease: Thin bony cortex
Thin bony cortex 		0.100 Biomarker phenotype HPO
CUI: C1833329
Disease: Bulging epiphyses
Bulging epiphyses 		0.100 Biomarker phenotype HPO
CUI: C1833331
Disease: Increased serum 1,25-dihydroxyvitamin D3
Increased serum 1,25-dihydroxyvitamin D3 		0.100 Biomarker phenotype HPO
CUI: C1837081
Disease: Tibial bowing
Tibial bowing 		0.100 Biomarker phenotype HPO
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		0.100 Biomarker phenotype HPO
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		0.100 Biomarker phenotype HPO
CUI: C1838664
Disease: Enlargement of the ankles
Enlargement of the ankles 		0.100 Biomarker phenotype HPO
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		0.100 Biomarker phenotype HPO
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		0.100 Biomarker phenotype HPO
CUI: C1839606
Disease: Low-molecular-weight proteinuria
Low-molecular-weight proteinuria 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1845169
Disease: Renal phosphate wasting
Renal phosphate wasting 		0.100 Biomarker phenotype HPO
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO