SLC12A3, solute carrier family 12 member 3, 6559

N. diseases: 252; N. variants: 131
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0268450
Disease: Gitelman Syndrome
Gitelman Syndrome
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0001126
Disease: Renal tubular acidosis
Renal tubular acidosis
0.400 Biomarker phenotype HPO
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0041349
Disease: Nephritis, Tubulointerstitial
Nephritis, Tubulointerstitial
0.400 Biomarker disease HPO
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0020599
Disease: Hypocalciuria
Hypocalciuria
0.200 Biomarker phenotype HPO
CUI: C0151723
Disease: Hypomagnesemia
Hypomagnesemia
0.200 Biomarker phenotype HPO
Diabetes Mellitus, Non-Insulin-Dependent
0.180 Biomarker disease HPO
CUI: C0004775
Disease: Bartter Disease
Bartter Disease
0.170 Biomarker disease HPO
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis
0.130 Biomarker disease HPO
CUI: C0085570
Disease: Hypokalemic alkalosis
Hypokalemic alkalosis
0.120 Biomarker disease HPO
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.110 Biomarker phenotype HPO
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.110 Biomarker disease HPO
CUI: C0018681
Disease: Headache
Headache
0.110 Biomarker phenotype HPO
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia
0.110 Biomarker phenotype HPO
CUI: C0522224
Disease: Paralysed
Paralysed
0.110 Biomarker phenotype HPO
Calcium pyrophosphate deposition disease
0.110 Biomarker disease HPO
CUI: C1384514
Disease: Conn Syndrome
Conn Syndrome
0.110 Biomarker disease HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation
0.100 Biomarker phenotype HPO