SLC6A3, solute carrier family 6 member 3, 6531

N. diseases: 10; N. variants: 6
Source: CLINVAR ×
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: C2751067
Disease: Parkinsonism-Dystonia, Infantile
Parkinsonism-Dystonia, Infantile 		disease Nervous System Diseases Disease or Syndrome 1 1 0.800 None 1.000 0 1 2009 2019
CUI: C4747621
Disease: PARKINSONISM-DYSTONIA, INFANTILE, 1
PARKINSONISM-DYSTONIA, INFANTILE, 1 		disease Disease or Syndrome 1 6 0.600 None 1.000 1 6 2009 2014
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		phenotype Sign or Symptom 2 2 0.130 None 1.000 1 1 2006 2012
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 89 118 0.100 None 1.000 1 1 2012 2012
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 12 13 0.100 None 1.000 1 1 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.100 None 1.000 1 1 2012 2012
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 2 2 0.100 None 1.000 1 1 2012 2012
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 63 92 0.100 None 1.000 1 1 2012 2012
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 2 0.100 None 1.000 1 1 2012 2012
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 12 17 0.100 None 1.000 1 1 2012 2012