SLC6A8, solute carrier family 6 member 8, 6535

N. diseases: 274; N. variants: 27
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: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2013 2013
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane 		disease Eye Diseases Acquired Abnormality 102 0.010 None < 0.001 1 2018 2018
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C4024655
Disease: Underfolded superior helices
Underfolded superior helices 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 11 1 2000 2017
CUI: C0080024
Disease: Piebaldism
Piebaldism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.010 None 1.000 1 2017 2017
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 90 5 0.010 None 1.000 1 2006 2006
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 385 49 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 10 26 1.000 None 1.000 47 22 2001 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 1.000 23 2013 2020
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.100 None 1.000 21 2013 2019
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 25 1 0.100 None 1.000 10 2017 2019
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.370 None 1.000 8 2 2002 2012
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.050 None 1.000 5 2001 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.050 None 1.000 5 2017 2019
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 104 31 0.040 None 1.000 4 2017 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.030 None 1.000 3 2010 2019
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.030 None 0.667 3 2015 2019
CUI: C0349782
Disease: Ischemic cardiomyopathy
Ischemic cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 110 5 0.030 None 1.000 3 2018 2019
CUI: C0574080
Disease: Guanidinoacetate methyltransferase deficiency
Guanidinoacetate methyltransferase deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 3 18 0.030 None 1.000 3 2003 2011