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: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 9 0.010 None 1.000 1 2011 2011
CUI: C0040580
Disease: Tracheal Diseases
Tracheal Diseases 		group Respiratory Tract Diseases Disease or Syndrome 155 1 0.010 None 1.000 1 2011 2011
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		disease Musculoskeletal Diseases Disease or Syndrome 77 43 0.010 None 1.000 1 2017 2017
CUI: C2609259
Disease: Symphysis Pubis Dysfunction
Symphysis Pubis Dysfunction 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 23 4 0.010 None 1.000 1 1 2003 2003
CUI: C2350019
Disease: Solitary Pulmonary Nodule
Solitary Pulmonary Nodule 		disease Respiratory Tract Diseases Neoplastic Process 25 0.010 None 1.000 1 2012 2012
CUI: C1968949
Disease: Cakut
Cakut 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 8 0.010 None 1.000 1 2019 2019
CUI: C0152439
Disease: Retinoschisis
Retinoschisis 		disease Eye Diseases Disease or Syndrome 13 6 0.010 None 1.000 1 2003 2003
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 1994 1994
CUI: C0155366
Disease: Vitreous degeneration
Vitreous degeneration 		disease Eye Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2003 2003
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 188 19 0.010 None 1.000 1 2018 2018
CUI: C1865185
Disease: Spondyloepimetaphyseal Dysplasia, Shohat Type
Spondyloepimetaphyseal Dysplasia, Shohat Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2017 2017
CUI: C0206637
Disease: Mesenchymal Chondrosarcoma
Mesenchymal Chondrosarcoma 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2005 2005
CUI: C0221170
Disease: Muscular stiffness
Muscular stiffness 		phenotype Nervous System Diseases Sign or Symptom 92 6 0.010 None 1.000 1 2017 2017
CUI: C0231528
Disease: Myalgia
Myalgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.010 None 1.000 1 2018 2018
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 68 20 0.010 None < 0.001 1 2019 2019
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C2827407
Disease: Infectious Otitis Media
Infectious Otitis Media 		disease Otorhinolaryngologic Diseases Disease or Syndrome 146 6 0.010 None 1.000 1 2019 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.010 None 1.000 1 2013 2013
CUI: C3489413
Disease: Lipomatosis, Multiple
Lipomatosis, Multiple 		disease Neoplasms Neoplastic Process 54 1 0.010 None 1.000 1 2019 2019
CUI: C0023798
Disease: Lipoma
Lipoma 		disease Neoplasms Neoplastic Process 87 9 0.010 None 1.000 1 2019 2019
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.010 None 1.000 1 1990 1990
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		disease Anatomical Abnormality 1 0.010 None 1.000 1 2003 2003
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.010 None 1.000 1 2011 2011
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
Childhood Pilomyxoid Astrocytoma 		disease Neoplastic Process 10 2 0.010 None 1.000 1 2015 2015
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 170 7 0.010 None 1.000 1 1997 1997