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: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0425791
Disease: Peau d'orange surface of breast
Peau d'orange surface of breast 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom 3 0.100 None 0
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 78 19 0.100 None 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		disease Congenital Abnormality 176 23 0.100 None 0
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype Finding 99 8 0.100 None 0
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.100 None 0
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.100 None 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 3 0.100 None 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
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: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0
CUI: C0016202
Disease: Flatfoot
Flatfoot 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 285 38 0.100 None 0
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		phenotype Finding 181 12 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.100 None 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 41 30 0.100 None 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		group Anatomical Abnormality 29 1 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		disease Anatomical Abnormality 17 0.100 None 0