SLC22A1, solute carrier family 22 member 1, 6580

N. diseases: 119; N. variants: 18
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: C4684879
Disease: Metastatic Bile Duct Carcinoma
Metastatic Bile Duct Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2010 2010
Peroxisome Biogenesis Disorder, Complementation Group C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 2013 2013
Adult onset autosomal dominant leukodystrophy
disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C1857231
Disease: LACTASE PERSISTENCE
LACTASE PERSISTENCE
phenotype Disease or Syndrome 15 9 0.040 None 1.000 4 2005 2011
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy
disease Disease or Syndrome 15 2 0.010 None 1.000 1 2017 2017
CUI: C0005122
Disease: Beriberi
Beriberi
disease Nutritional and Metabolic Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0039841
Disease: Thiamine Deficiency
Thiamine Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C0026205
Disease: Miosis disorder
Miosis disorder
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.010 None 1.000 1 2011 2011
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement
phenotype Laboratory Procedure 23 103 0.100 None 1.000 1 1 2017 2017
CUI: C0520909
Disease: Postoperative Nausea and Vomiting
Postoperative Nausea and Vomiting
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 31 18 0.010 None 1.000 1 1 2017 2017
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis
disease Digestive System Diseases Disease or Syndrome 54 3 0.200 None 1.000 1 2009 2009
CUI: C0005694
Disease: Bladder neck obstruction
Bladder neck obstruction
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 67 0.010 None 1.000 1 2012 2012
CUI: C0023474
Disease: Leukemia, Myeloid, Chronic-Phase
Leukemia, Myeloid, Chronic-Phase
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 72 1 0.040 None 1.000 4 2010 2012
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic
disease Digestive System Diseases Disease or Syndrome 87 0.200 None 1.000 1 2010 2010
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
phenotype Finding 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0013295
Disease: Duodenal Ulcer
Duodenal Ulcer
disease Digestive System Diseases Disease or Syndrome 102 33 0.010 None 1.000 1 2012 2012
CUI: C0085695
Disease: Chronic gastritis
Chronic gastritis
disease Digestive System Diseases Disease or Syndrome 114 11 0.010 None 1.000 1 2005 2005
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 21 0.010 None 1.000 1 1 2013 2013
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral
disease Infections; Nervous System Diseases Disease or Syndrome 148 34 0.010 None 1.000 1 1999 1999
CUI: C2747816
Disease: Complicated malaria
Complicated malaria
disease Infections Disease or Syndrome 166 38 0.010 None 1.000 1 1999 1999
CUI: C3250443
Disease: MYOTONIC DYSTROPHY 1
MYOTONIC DYSTROPHY 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 179 14 0.010 None 1.000 1 2015 2015
CUI: C2609414
Disease: Acute kidney injury
Acute kidney injury
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Injury or Poisoning 185 3 0.200 None 1.000 1 2012 2012
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 204 25 0.010 None 1.000 1 2016 2016
CUI: C0018099
Disease: Gout
Gout
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 1.000 1 1 2012 2012