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: 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: C0432281
Disease: Pseudochondroplasia
Pseudochondroplasia 		disease Disease or Syndrome 1 0.010 None 1.000 1 1995 1995
CUI: C4310948
Disease: PSEUDOACHONDROPLASIA, SEVERE
PSEUDOACHONDROPLASIA, SEVERE 		disease Disease or Syndrome 1 1 0.110 None 1.000 1 1 2001 2001
CUI: C1856637
Disease: Spatulate ribs
Spatulate ribs 		phenotype Finding 1 0.100 None 0
CUI: C1867494
Disease: Fragmented, irregular epiphyses
Fragmented, irregular epiphyses 		phenotype Finding 1 0.100 None 0
CUI: C4016660
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE 		disease Finding 1 2 0.100 None 0 2
CUI: C4021305
Disease: Small epiphyses of the phalanges of the hand
Small epiphyses of the phalanges of the hand 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021688
Disease: Ulnar metaphyseal irregularity
Ulnar metaphyseal irregularity 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4021692
Disease: Radial metaphyseal irregularity
Radial metaphyseal irregularity 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4022253
Disease: Fragmented epiphyses
Fragmented epiphyses 		disease Anatomical Abnormality 1 0.100 None 0
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: C0847415
Disease: facet joint degeneration
facet joint degeneration 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C1867487
Disease: Childhood onset short-limb short stature
Childhood onset short-limb short stature 		phenotype Finding 2 0.100 None 0
CUI: C0451840
Disease: Erosive osteoarthrosis
Erosive osteoarthrosis 		disease Musculoskeletal Diseases Disease or Syndrome 3 0.020 None 1.000 2 2017 2018
CUI: C0022410
Disease: Joint Instability
Joint Instability 		phenotype Musculoskeletal Diseases Finding 3 0.300 None 1.000 1 1999 1999
CUI: C4025401
Disease: Irregular carpal bones
Irregular carpal bones 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025674
Disease: Flared femoral metaphysis
Flared femoral metaphysis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C0852866
Disease: Cervical cord compression
Cervical cord compression 		phenotype Nervous System Diseases; Wounds and Injuries Finding 4 0.100 None 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension 		phenotype Finding 4 2 0.100 None 0
CUI: C1849016
Disease: Broad femoral neck
Broad femoral neck 		phenotype Finding 7 0.100 None 0
CUI: C1851542
Disease: Limited hip movement
Limited hip movement 		phenotype Finding 10 2 0.100 None 0
CUI: C1863749
Disease: Carpal bone hypoplasia
Carpal bone hypoplasia 		phenotype Finding 10 0.100 None 0
CUI: C0241521
Disease: Ulnar deviation of hand
Ulnar deviation of hand 		phenotype Musculoskeletal Diseases Finding 12 2 0.100 None 0
CUI: C0002066
Disease: Alkaptonuria
Alkaptonuria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 68 0.010 None 1.000 1 2017 2017
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 1996 1996