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.
CUI: C0021368
Disease: Inflammation
Inflammation 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.300 None 1.000 2 2013 2017
CUI: C1861481
Disease: Stickler syndrome, type 3
Stickler syndrome, type 3 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 4 0.300 None 1.000 2 2005 2011
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 1993 1993
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		disease Eye Diseases Disease or Syndrome 28 0.300 None 1.000 1 1993 1993
CUI: C0432221
Disease: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, 'corner fracture' type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 2 5 0.300 None 1.000 1 2007 2007
CUI: C0410574
Disease: Synovial Hypertrophy
Synovial Hypertrophy 		disease Musculoskeletal Diseases Disease or Syndrome 12 0.300 None 1.000 1 2014 2014
CUI: C0020507
Disease: Hyperplasia
Hyperplasia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 131 0.300 None 1.000 1 2015 2015
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.300 None 1.000 1 2006 2006
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 1993 1993
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 1993 1993
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		phenotype Eye Diseases Finding 24 0.300 None 1.000 1 1993 1993
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 1 2005 2005
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 1993 1993
CUI: C0339546
Disease: Retinal Pigment Epithelial Detachment
Retinal Pigment Epithelial Detachment 		disease Eye Diseases Disease or Syndrome 17 3 0.300 None 1.000 1 1993 1993
CUI: C0005974
Disease: Bone Resorption
Bone Resorption 		phenotype Musculoskeletal Diseases Organ or Tissue Function 10 0.300 None 1.000 1 2017 2017
CUI: C4479260
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 		disease Disease or Syndrome 2 1 0.300 None 1.000 1 2005 2005
CUI: C1866688
Disease: Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia, Algerian type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C0085700
Disease: Chondromalacia
Chondromalacia 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 8 0.300 None 1.000 1 2017 2017
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 1.000 1 2008 2008
CUI: C1855310
Disease: Megaepiphyseal dwarfism
Megaepiphyseal dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2005 2005
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 None 1.000 1 1993 1993
CUI: C0524595
Disease: Aseptic Necrosis of Femur Head
Aseptic Necrosis of Femur Head 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function 3 0.300 None 0
CUI: C0265253
Disease: Stickler syndrome (disorder)
Stickler syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases Disease or Syndrome 17 8 0.200 None 0.938 48 3 1987 2018
CUI: C0410606
Disease: Cervical Disc Degenerative Disorder
Cervical Disc Degenerative Disorder 		disease Musculoskeletal Diseases Disease or Syndrome 16 1 0.200 None 1.000 3 2008 2014
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.200 None 1.000 1 2007 2007