SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
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: C1855577
Disease: Erythrocyte Lactate Transporter Defect
Erythrocyte Lactate Transporter Defect 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.700 strong 1.000 2 2 2000 2003
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.700 strong 1.000 1 3 2007 2007
CUI: C4015186
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY 		disease Disease or Syndrome 1 1 0.600 None 1.000 1 1 2014 2014
CUI: C4016683
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		disease Finding 1 3 0.100 None 0 3
CUI: C4016684
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT 		disease Finding 1 5 0.100 None 0 5
CUI: C1864904
Disease: Exercise-induced hyperinsulinism
Exercise-induced hyperinsulinism 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 0.040 None 0.500 4 2007 2013
CUI: C1442907
Disease: Foreign body giant cell granuloma
Foreign body giant cell granuloma 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases; Wounds and Injuries Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness 		phenotype Finding 4 1 0.100 None 0
CUI: C1831619
Disease: Phosphaturic Mesenchymal Tumor
Phosphaturic Mesenchymal Tumor 		disease Neoplastic Process 6 0.010 None 1.000 1 2016 2016
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 16 0.010 None 1.000 1 2000 2000
CUI: C1855578
Disease: Exercise-induced muscle cramps
Exercise-induced muscle cramps 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 8 1 0.100 None 0
CUI: C0376356
Disease: Premenstrual Tension
Premenstrual Tension 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 10 0.010 None 1.000 1 2018 2018
CUI: C0597167
Disease: Islets of Langerhans hyperplasia
Islets of Langerhans hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 12 0.100 None 0
CUI: C0271713
Disease: Ketotic hypoglycemia
Ketotic hypoglycemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 15 1 0.100 None 0
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		phenotype Finding 18 3 0.100 None 0
CUI: C0020617
Disease: Hypoglycemic coma
Hypoglycemic coma 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C1274103
Disease: Oncogenic osteomalacia
Oncogenic osteomalacia 		disease Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 22 0.010 None 1.000 1 2016 2016
CUI: C0162275
Disease: Ketonuria
Ketonuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0029442
Disease: Osteomalacia
Osteomalacia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 31 1 0.010 None 1.000 1 2018 2018
CUI: C0271844
Disease: Parathyroid hyperplasia
Parathyroid hyperplasia 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 37 1 0.010 None 1.000 1 1978 1978
CUI: C1095979
Disease: Progressive multiple sclerosis
Progressive multiple sclerosis 		disease Disease or Syndrome 37 0.010 None 1.000 1 2019 2019
CUI: C0014836
Disease: Escherichia coli Infections
Escherichia coli Infections 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2006 2006
CUI: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 44 5 0.010 None 1.000 1 2019 2019
CUI: C3887650
Disease: Adult Rickets
Adult Rickets 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 47 0.010 None 1.000 1 2018 2018