COMP, cartilage oligomeric matrix protein, 1311

N. diseases: 230; N. variants: 31
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: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 16 1.000 None 0.974 78 16 1995 2019
CUI: C1838280
Disease: Epiphyseal dysplasia, multiple, 1
Epiphyseal dysplasia, multiple, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 13 0.740 None 1.000 17 13 1995 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.500 None 0.971 34 3 1995 2019
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		disease Musculoskeletal Diseases Disease or Syndrome 164 121 0.440 None 1.000 4 2014 2019
CUI: C0086437
Disease: Joint laxity
Joint laxity 		phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.400 None 1.000 1 1999 1999
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 49 2 1995 2018
CUI: C0022410
Disease: Joint Instability
Joint Instability 		phenotype Musculoskeletal Diseases Finding 3 0.300 None 1.000 1 1999 1999
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 1 1995 1995
CUI: C4275061
Disease: Multiple epiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 limited 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding 86 6 0.300 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.150 None 1.000 5 2001 2015
CUI: C4310948
Disease: PSEUDOACHONDROPLASIA, SEVERE
PSEUDOACHONDROPLASIA, SEVERE 		disease Disease or Syndrome 1 1 0.110 None 1.000 1 1 2001 2001
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		disease Musculoskeletal Diseases Disease or Syndrome 368 150 0.100 None 1.000 11 2008 2020
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.100 None 0
CUI: C0152235
Disease: Congenital genu recurvatum
Congenital genu recurvatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.100 None 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		phenotype Finding 10 2 0.100 None 0
CUI: C0158486
Disease: Acquired genu recurvatum
Acquired genu recurvatum 		phenotype Musculoskeletal Diseases Acquired Abnormality 23 0.100 None 0
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		phenotype Musculoskeletal Diseases Sign or Symptom 163 14 0.100 None 0
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype Finding 7 0.100 None 0
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		phenotype Finding 35 5 0.100 None 0
CUI: C1855665
Disease: Ovoid vertebral bodies
Ovoid vertebral bodies 		phenotype Finding 25 0.100 None 0
CUI: C1854912
Disease: Short long bone
Short long bone 		phenotype Finding 42 19 0.100 None 0
CUI: C1867494
Disease: Fragmented, irregular epiphyses
Fragmented, irregular epiphyses 		phenotype Finding 1 0.100 None 0
CUI: C1867487
Disease: Childhood onset short-limb short stature
Childhood onset short-limb short stature 		phenotype Finding 2 0.100 None 0
CUI: C1867103
Disease: Limited elbow extension
Limited elbow extension 		phenotype Finding 26 2 0.100 None 0