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.
Spondyloepiphyseal dysplasia, congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 15 30 1.000 None 0.981 52 17 1989 2020
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 14 1.000 None 1.000 21 13 1988 2012
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 27 0.800 None 0.968 62 23 1987 2019
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome 4 6 0.800 None 1.000 20 6 1989 2017
Spondyloperipheral dysplasia short ulna
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 8 0.750 None 1.000 9 8 1989 2013
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease
disease Musculoskeletal Diseases Disease or Syndrome 36 9 0.740 None 1.000 6 6 2007 2014
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 4 0.730 None 1.000 8 4 1989 2016
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 19 0.730 None 1.000 8 8 1989 2017
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 1 4 0.730 None 1.000 7 4 1993 2016
Stickler Syndrome, Type I, Nonsyndromic Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 9 0.710 None 1.000 9 9 1989 2018
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
disease Disease or Syndrome 1 6 0.710 moderate 1.000 5 6 1991 2016
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 4 0.700 None 1.000 5 4 1990 2012
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 2 6 0.700 None 1.000 4 6 1989 2012
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 4 0.700 None 1.000 3 4 1998 2012
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 5 0.660 None 1.000 9 4 1988 2003
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 74 20 0.650 None 1.000 5 3 2005 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.640 strong 1.000 6 1991 2011
CUI: C4520892
Disease: Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 3 5 0.610 None 1.000 2 1 2005 2012
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.500 None 0.941 68 5 1993 2020
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 29 0.500 None 1.000 22 1989 2019
CUI: C0015814
Disease: Femur Head Necrosis
Femur Head Necrosis
disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 8 0.500 None 1.000 1 2010 2010
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.480 None 1.000 8 1993 2018
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 207 26 0.440 None 1.000 5 1 1993 2017
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 295 70 0.440 None 1.000 5 1 2003 2011
CUI: C0027092
Disease: Myopia
Myopia
disease Eye Diseases Disease or Syndrome 490 167 0.420 None 1.000 3 2 2007 2012