COL9A2, collagen type IX alpha 2 chain, 1298

N. diseases: 116; N. variants: 10
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: C1838429
Disease: Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 0.500 None 1.000 3 2002 2011
CUI: C3280342
Disease: STICKLER SYNDROME, TYPE V
STICKLER SYNDROME, TYPE V 		disease Disease or Syndrome 1 1 0.600 None 1.000 3 1 2002 2011
CUI: C3697376
Disease: Oculoskeletal dysplasia
Oculoskeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 3 0.010 None 1.000 1 2010 2010
CUI: C0029376
Disease: Juvenile osteochondrosis of tibial tubercle
Juvenile osteochondrosis of tibial tubercle 		disease Musculoskeletal Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2006 2006
CUI: C0729346
Disease: Osteochondritis juvenilis
Osteochondritis juvenilis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2006 2006
CUI: C0029429
Disease: Osteochondrosis
Osteochondrosis 		disease Musculoskeletal Diseases Disease or Syndrome 9 0.010 None < 0.001 1 2006 2006
CUI: C1857527
Disease: Flattened epiphysis
Flattened epiphysis 		phenotype Finding 11 3 0.100 None 0
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		disease Neoplasms Neoplastic Process 13 0.010 None 1.000 1 1996 1996
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		phenotype Finding 15 0.100 None 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		phenotype Finding 15 0.100 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 0.420 limited 1.000 10 1 2005 2017
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 19 16 0.060 None 1.000 6 1997 2012
CUI: C0472761
Disease: Homozygous alpha thalassemia
Homozygous alpha thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.010 None 1.000 1 1992 1992
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		disease Disease or Syndrome 20 6 0.100 None 0
CUI: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 0.010 None 1.000 1 2007 2007
CUI: C0029421
Disease: Osteochondritis Dissecans
Osteochondritis Dissecans 		disease Musculoskeletal Diseases Disease or Syndrome 22 2 0.020 None 1.000 2 2010 2015
CUI: C0036396
Disease: Sciatica
Sciatica 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 24 4 0.020 None 1.000 2 1 2002 2006
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		phenotype Finding 24 2 0.100 None 0
CUI: C3150077
Disease: Mild short stature
Mild short stature 		phenotype Finding 25 8 0.100 None 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 27 0.100 None 0
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 0.320 moderate 1.000 2 2011 2013
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.010 None 1.000 1 1992 1992
CUI: C0242362
Disease: Disk, Herniated
Disk, Herniated 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0.010 None 1.000 1 2000 2000
CUI: C0158288
Disease: Spinal stenosis of lumbar region
Spinal stenosis of lumbar region 		disease Musculoskeletal Diseases Disease or Syndrome 34 2 0.010 None 1.000 1 2011 2011
CUI: C0877430
Disease: Asthma chronic
Asthma chronic 		disease Disease or Syndrome 36 0.010 None 1.000 1 2018 2018