ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 61; N. variants: 12
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: C1843108
Disease: Short palm
Short palm 		phenotype Finding 110 13 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1839254
Disease: Hypoplasia of the capital femoral epiphysis
Hypoplasia of the capital femoral epiphysis 		phenotype Finding 11 0.100 None 0
CUI: C1837732
Disease: Thickened helices
Thickened helices 		phenotype Finding 37 3 0.100 None 0
CUI: C4020825
Disease: Irregular capital femoral epiphysis
Irregular capital femoral epiphysis 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1854718
Disease: J-shaped sella turcica
J-shaped sella turcica 		phenotype Finding 10 1 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C1856471
Disease: Short metacarpals with rounded proximal ends
Short metacarpals with rounded proximal ends 		phenotype Finding 1 0.100 None 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype Finding 282 16 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C4021998
Disease: Lack of skin elasticity
Lack of skin elasticity 		phenotype Finding 22 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 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: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		disease Respiratory Tract Diseases Disease or Syndrome 30 2 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0029453
Disease: Osteopenia
Osteopenia 		disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 845 61 0.100 None 0
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases 		group Musculoskeletal Diseases Disease or Syndrome 38 5 0.200 None 0
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 234 19 0.100 None 0
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 170 7 0.100 None 0
CUI: C0024433
Disease: Macrostomia
Macrostomia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 148 11 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0