SLC26A3, solute carrier family 26 member 3, 1811

N. diseases: 128; N. variants: 58
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: C3697893
Disease: Telangiectatic focal nodular hyperplasia
Telangiectatic focal nodular hyperplasia 		disease Digestive System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2005 2005
CUI: C0267662
Disease: Congenital chloride diarrhea
Congenital chloride diarrhea 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 55 1.000 strong 0.964 28 55 1996 2019
CUI: C0277275
Disease: Infection by Haemonchus
Infection by Haemonchus 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0037859
Disease: Spermatocele
Spermatocele 		disease Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases Disease or Syndrome 5 0.010 None 1.000 1 2006 2006
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 5 1 0.010 None 1.000 1 2010 2010
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 34 0.010 None 1.000 1 2005 2005
CUI: C0013369
Disease: Dysentery
Dysentery 		disease Digestive System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0268181
Disease: Lactose Intolerance, Adult Type
Lactose Intolerance, Adult Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 7 0.010 None 1.000 1 2007 2007
CUI: C0085680
Disease: Hypochloremia (disorder)
Hypochloremia (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 1 0.100 None 0
CUI: C0595901
Disease: Serum chloride level decreased (finding)
Serum chloride level decreased (finding) 		phenotype Nutritional and Metabolic Diseases Finding 7 0.100 None 0
CUI: C0342488
Disease: Mineralocorticoid Excess Syndrome, Apparent
Mineralocorticoid Excess Syndrome, Apparent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 1 0.010 None 1.000 1 2019 2019
CUI: C1846345
Disease: Hyperactive renin-angiotensin system
Hyperactive renin-angiotensin system 		phenotype Finding 8 0.100 None 0
CUI: C0740898
Disease: Hypokalemic metabolic alkalosis
Hypokalemic metabolic alkalosis 		disease Disease or Syndrome 10 3 0.010 None 1.000 1 2008 2008
CUI: C3160854
Disease: Small intestinal bacterial overgrowth
Small intestinal bacterial overgrowth 		disease Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0206142
Disease: Eosinophilic leukemia
Eosinophilic leukemia 		disease Hemic and Lymphatic Diseases Neoplastic Process 18 2 0.010 None 1.000 1 1997 1997
CUI: C4289709
Disease: DOCK8 Deficiency
DOCK8 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 18 0.010 None 1.000 1 2019 2019
CUI: C0267557
Disease: Secretory diarrhea
Secretory diarrhea 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2018 2018
CUI: C0341306
Disease: Microvillus inclusion disease
Microvillus inclusion disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 16 0.010 None 1.000 1 2016 2016
CUI: C0036992
Disease: Short Bowel Syndrome
Short Bowel Syndrome 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 21 1 0.010 None 1.000 1 2017 2017
CUI: C0002063
Disease: Alkalosis
Alkalosis 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 25 2 0.110 None 1.000 1 2019 2019
CUI: C0025218
Disease: Chloasma
Chloasma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 25 0.010 None 1.000 1 2012 2012
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 27 5 0.110 None 1.000 1 2015 2015
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 27 169 0.010 None 1.000 1 2020 2020
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 142 0.030 None 1.000 3 1998 2017
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 38 4 0.010 None 1.000 1 2017 2017