XYLT2, xylosyltransferase 2, 64132

N. diseases: 138; N. variants: 7
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: C4225412
Disease: Spondylo-ocular syndrome
Spondylo-ocular syndrome 		disease Disease or Syndrome 24 5 0.450 None 1.000 5 3 2015 2019
CUI: C0037284
Disease: Skin lesion
Skin lesion 		group Skin and Connective Tissue Diseases Disease or Syndrome 563 52 0.010 None 1.000 1 2 2006 2006
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 4 1 2015 2018
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 1189 238 0.040 None 1.000 4 1 2005 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 4 1 2015 2018
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 57 323 0.520 None 1.000 2 1 2006 2007
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1098 182 0.110 None 1.000 1 1 2006 2006
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0 1
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		disease Eye Diseases Disease or Syndrome 148 10 0.100 None 0 1
CUI: C3279392
Disease: PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF
PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C1834124
Disease: Shield chest
Shield chest 		phenotype Finding 12 2 0.100 None 0 1
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0 1
CUI: C0262431
Disease: Compression fracture of vertebral column
Compression fracture of vertebral column 		phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0 1
CUI: C0019156
Disease: Hepatic Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 37 2 0.050 None 1.000 5 2012 2019
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.040 None 1.000 4 2018 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2009 2018
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		disease Immune System Diseases Disease or Syndrome 447 25 0.020 None 1.000 2 2018 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.020 None 1.000 2 2012 2013
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 85 187 0.020 None 1.000 2 2013 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 1143 75 0.020 None 1.000 2 2017 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2006 2017
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.020 None 0.500 2 2009 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2006 2017
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 80 5 0.010 None 1.000 1 2016 2016
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 639 50 0.010 None 1.000 1 2017 2017