COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
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.
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.420 None 1.000 3 2004 2008
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 2 0.410 None 1.000 2 2 2003 2005
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 40 7 0.410 None 1.000 2 1 1993 1993
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.410 None 1.000 1 1993 1993
CUI: C0013604
Disease: Edema
Edema
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 126 1 0.400 None 1.000 4 2014 2018
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.400 None 1.000 2 1 2008 2012
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 0.400 limited 0
Hyaloideoretinal degeneration of Wagner
disease Eye Diseases Disease or Syndrome 7 6 0.360 None 1.000 6 1993 2003
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.350 None 0.857 7 1993 2018
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 37 2 0.340 None 1.000 4 1995 2013
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma
disease Neoplasms Neoplastic Process 385 8 0.330 None 1.000 3 2013 2015
CUI: C4302548
Disease: Dysspondyloenchondromatosis
Dysspondyloenchondromatosis
disease Musculoskeletal Diseases Disease or Syndrome 1 0.320 None 1.000 3 2011 2015
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases
group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.320 None 1.000 3 1995 2017
CUI: C0003864
Disease: Arthritis
Arthritis
disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.310 None 1.000 4 2007 2016
Spondyloepiphyseal Dysplasia Tarda, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 3 0.310 None 1.000 2 1993 1994
CUI: C0039103
Disease: Synovitis
Synovitis
disease Musculoskeletal Diseases Disease or Syndrome 197 0.310 None 1.000 2 2005 2014
CUI: C0003865
Disease: Arthritis, Adjuvant-Induced
Arthritis, Adjuvant-Induced
disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 9 2005 2018
CUI: C0993582
Disease: Arthritis, Experimental
Arthritis, Experimental
disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 9 2005 2018
CUI: C0971858
Disease: Arthritis, Collagen-Induced
Arthritis, Collagen-Induced
disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 9 2005 2018
CUI: C0151603
Disease: Anasarca
Anasarca
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.300 None 1.000 4 2014 2018
CUI: C0162323
Disease: Polyarthritis
Polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 65 9 0.300 None 1.000 3 2007 2016
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.300 None 1.000 2 2014 2017
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.300 None 1.000 2 2015 2018
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 2 1997 2004
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans
disease Musculoskeletal Diseases Disease or Syndrome 96 1 0.300 None 1.000 2 1997 2005