XYLT1, xylosyltransferase 1, 64131

N. diseases: 141; N. variants: 19
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: C2675111
Disease: Abnormal eyelash morphology
Abnormal eyelash morphology 		phenotype Finding 39 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C1849618
Disease: Accelerated atherosclerosis
Accelerated atherosclerosis 		phenotype Cardiovascular Diseases Finding 7 0.100 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		phenotype Musculoskeletal Diseases Acquired Abnormality 23 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C1849292
Disease: Advanced ossification of carpal bones
Advanced ossification of carpal bones 		phenotype Finding 7 0.100 None 0
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.100 None 0
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 139 65 0.100 None 0
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks 		disease Eye Diseases Disease or Syndrome 13 90 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		disease Cardiovascular Diseases Disease or Syndrome 586 90 0.010 None 1.000 1 1 2008 2008
CUI: C4023909
Disease: Aplasia/Hypoplasia of the abdominal wall musculature
Aplasia/Hypoplasia of the abdominal wall musculature 		phenotype Finding 32 0.100 None 0
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 41 1 0.010 None 1.000 1 2015 2015
CUI: C1142253
Disease: Arthrofibrosis
Arthrofibrosis 		disease Musculoskeletal Diseases Disease or Syndrome 17 0.010 None 1.000 1 2015 2015
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		disease Neoplasms Neoplastic Process 985 59 0.010 None 1.000 1 2017 2017
CUI: C3550876
Disease: BARATELA-SCOTT SYNDROME
BARATELA-SCOTT SYNDROME 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1319466
Disease: Barber Say syndrome
Barber Say syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 21 4 0.010 None 1.000 1 2019 2019
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		phenotype Finding 26 7 0.100 None 0
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.010 None 1.000 1 2019 2019
CUI: C0542514
Disease: Blue sclera
Blue sclera 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 70 13 0.100 None 0
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2017 2017
CUI: C1848654
Disease: Broad ribs
Broad ribs 		phenotype Finding 18 0.100 None 0
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		phenotype Finding 67 11 0.100 None 0
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 45 8 0.010 None 1.000 1 2019 2019