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: C4016683
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE 		disease Finding 1 3 0.100 None 0 3
CUI: C0877056
Disease: Hypoglycemic seizures
Hypoglycemic seizures 		disease Nutritional and Metabolic Diseases Disease or Syndrome 19 0.100 None 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		disease Nutritional and Metabolic Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
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: 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: 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: C1855579
Disease: Exercise-induced muscle stiffness
Exercise-induced muscle stiffness 		phenotype Finding 4 1 0.100 None 0
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
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: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2002 2002
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.300 None 1.000 1 2002 2002
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2017 2017
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.010 None 1.000 1 2019 2019
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		group Digestive System Diseases; Neoplasms Neoplastic Process 538 154 0.010 None 1.000 1 2012 2012
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.010 None 1.000 1 2019 2019
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2015 2015