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: C3278147
Disease: GELEOPHYSIC DYSPLASIA 1
GELEOPHYSIC DYSPLASIA 1
disease Disease or Syndrome 1 12 0.600 strong 1.000 2 12 2008 2011
CUI: C3489726
Disease: Geleophysic dysplasia
Geleophysic dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 10 7 0.500 None 1.000 18 6 2008 2019
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.400 None 1.000 1 2008 2008
CUI: C0265287
Disease: Acromicric Dysplasia
Acromicric Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 21 31 0.310 None 1.000 2 2008 2016
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 29 0.300 None 1.000 1 2008 2008
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.300 None 1.000 1 2008 2008
CUI: C0282631
Disease: Facies
Facies
group Pathological Conditions, Signs and Symptoms Organism Attribute 10 0.300 None 1.000 1 2008 2008
CUI: C0009917
Disease: Contracture
Contracture
disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.300 None 1.000 1 2008 2008
Spondyloepiphyseal Dysplasia Tarda, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.300 None 1.000 1 2008 2008
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.300 None 1.000 1 2008 2008
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 19 0.300 None 1.000 1 2008 2008
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 40 7 0.300 None 1.000 1 2008 2008
CUI: C0018824
Disease: Heart valve disease
Heart valve disease
group Cardiovascular Diseases Disease or Syndrome 79 5 0.300 None 1.000 1 2008 2008
CUI: C4551479
Disease: Schwartz-Jampel Syndrome, Type 1
Schwartz-Jampel Syndrome, Type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 16 4 0.300 None 1.000 1 2008 2008
CUI: C0018566
Disease: Congenital Hand Deformities
Congenital Hand Deformities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 0.300 None 1.000 1 2008 2008
CUI: C0018273
Disease: Growth Disorders
Growth Disorders
group Pathological Conditions, Signs and Symptoms Pathologic Function 39 0.300 None 1.000 1 2008 2008
CUI: C0432272
Disease: Van Buchem disease
Van Buchem disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 24 2 0.300 None 1.000 1 2008 2008
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 None 1.000 1 2008 2008
CUI: C0036391
Disease: Schwartz-Jampel Syndrome
Schwartz-Jampel Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 77 12 0.300 None 1.000 1 2008 2008
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases
group Musculoskeletal Diseases Disease or Syndrome 38 5 0.200 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.110 None 1.000 1 2019 2019
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: 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