XYLT1, xylosyltransferase 1, 64131

N. diseases: 16; N. variants: 17
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: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 4 316 0.630 moderate 1.000 1 1 2005 2017
CUI: C4014294
Disease: DESBUQUOIS DYSPLASIA 2
DESBUQUOIS DYSPLASIA 2 		disease Disease or Syndrome 1 9 0.600 None 1.000 4 9 2014 2019
CUI: C0432242
Disease: Desbuquois syndrome
Desbuquois syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.560 None 1.000 1 2014 2019
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 1 0.300 None 1.000 1 2010 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse 		phenotype Chemically-Induced Disorders; Mental Disorders Finding 115 0.300 None 1.000 1 2010 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 116 0.300 None 1.000 1 2010 2010
CUI: C4750849
Disease: XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 0.300 None 1.000 1 2014 2014
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 18 0.300 None 1.000 1 2010 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 1 0.300 None 1.000 1 2010 2010
CUI: C0029231
Disease: Organic Mental Disorders, Substance-Induced
Organic Mental Disorders, Substance-Induced 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 115 0.300 None 1.000 1 2010 2010
CUI: C1867450
Disease: Pseudoxanthoma Elasticum, Incomplete
Pseudoxanthoma Elasticum, Incomplete 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 6 0.300 None 0
CUI: C0376359
Disease: Gronblad-Strandberg Syndrome
Gronblad-Strandberg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 3 0.300 None 0