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: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.500 None 0.941 68 5 1993 2020
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
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: 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: 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: 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: 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
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.100 None 1.000 18 2010 2020
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 71 1 0.100 None 0.941 17 1988 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 13 3 1990 2016
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 13 2 1990 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 13 2014 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 11 2011 2019
CUI: C1848296
Disease: DOSAGE-SENSITIVE SEX REVERSAL
DOSAGE-SENSITIVE SEX REVERSAL
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 159 12 0.100 None 0.909 11 2013 2019
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 176 45 0.100 None 0.909 11 2013 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 11 2011 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 1.000 10 2014 2019
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
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
CUI: C0993582
Disease: Arthritis, Experimental
Arthritis, Experimental
disease Musculoskeletal Diseases Experimental Model of Disease 43 0.300 None 1.000 9 2005 2018
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: 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
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: C0035305
Disease: Retinal Detachment
Retinal Detachment
disease Eye Diseases Disease or Syndrome 148 10 0.480 None 1.000 8 1993 2018
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