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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.100 None 0
CUI: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
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: C0544755
Disease: Genu varum
Genu varum 		phenotype Musculoskeletal Diseases Finding 60 6 0.100 None 0
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		phenotype Finding 64 4 0.100 None 0
CUI: C0546964
Disease: Genu recurvatum
Genu recurvatum 		disease Anatomical Abnormality 32 4 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 417 30 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: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		phenotype Finding 41 1 0.100 None 0
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		disease Musculoskeletal Diseases Anatomical Abnormality 92 8 0.100 None 0
CUI: C1260959
Disease: Drusen
Drusen 		disease Disease or Syndrome 57 18 0.100 None 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 615 42 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C0332601
Disease: Cushingoid facies
Cushingoid facies 		phenotype Endocrine System Diseases Sign or Symptom 6 1 0.100 None 0
CUI: C0333440
Disease: Hyaline body
Hyaline body 		disease Anatomical Abnormality 14 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 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
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		phenotype Finding 168 7 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 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