CARS1, cysteinyl-tRNA synthetase 1, 833

N. diseases: 6; N. variants: 3
Source: CURATED ×
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: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 6 0.310 None 1.000 2 2002 2003
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 268 231 0.300 None 1.000 1 2010 2010
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 67 0.300 strong 1.000 1 2019 2019
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease Disease or Syndrome 1 1 0.300 strong 1.000 1 2019 2019
CUI: C1856963
Disease: Fragile nails
Fragile nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 1 0.300 strong 1.000 1 2019 2019
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype Finding 7 24 0.300 strong 1.000 1 2019 2019