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: C0001079
Disease: Achondrogenesis
Achondrogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 4 0.030 None 1.000 3 1994 2007
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: C0001080
Disease: Achondroplasia
Achondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 0.010 None 1.000 1 1988 1988
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease Musculoskeletal Diseases Acquired Abnormality 149 2 0.100 None 0
CUI: C0701825
Disease: Acute mastoiditis
Acute mastoiditis 		disease Infections; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 406 10 0.010 None 1.000 1 2013 2013
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2018 2018
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213 0.020 None 1.000 2 2016 2019
CUI: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2019 2019
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma 		disease Neoplasms Neoplastic Process 92 10 0.010 None 1.000 1 2015 2015
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.100 None 0 1
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		phenotype Finding 4 4 0.100 None 0 1
CUI: C0151603
Disease: Anasarca
Anasarca 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.300 None 1.000 4 2014 2018
CUI: C1857101
Disease: Anisospondyly
Anisospondyly 		phenotype Finding 4 0.100 None 0
CUI: C0265998
Disease: ANONYCHIA
ANONYCHIA 		disease Pathological Conditions, Signs and Symptoms Congenital Abnormality 30 2 0.100 None 0
CUI: C1844509
Disease: Antegonial notching of mandible
Antegonial notching of mandible 		phenotype Finding 3 1 0.100 None 0 1
CUI: C1846154
Disease: Anterior rib cupping
Anterior rib cupping 		phenotype Finding 10 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 24 0.010 None 1.000 1 2017 2017
CUI: C4024996
Disease: Aplasia/Hypoplasia of the lungs
Aplasia/Hypoplasia of the lungs 		phenotype Finding 29 0.100 None 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.310 None 1.000 4 2007 2016
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: C0971858
Disease: Arthritis, Collagen-Induced
Arthritis, Collagen-Induced 		disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 9 2005 2018