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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 11 2011 2019
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: C0009326
Disease: Collagen Diseases
Collagen Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.040 None 1.000 4 1 2000 2017
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.040 None 1.000 4 2014 2017
CUI: C0007302
Disease: Cartilage Diseases
Cartilage Diseases 		group Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 23 0.320 None 1.000 3 1995 2017
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1296 609 0.030 None 1.000 3 2016 2019
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		group Musculoskeletal Diseases Disease or Syndrome 82 2 0.020 None 1.000 2 1994 2015
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.120 None 1.000 2 1999 2012
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.020 None 1.000 2 2018 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 2 1997 2004
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.010 None 1.000 1 2018 2018
CUI: C0008449
Disease: Congenital anomaly of cartilage
Congenital anomaly of cartilage 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 9 0.010 None 1.000 1 1989 1989
CUI: C0013366
Disease: Dyschondroplasias
Dyschondroplasias 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 None 1.000 1 1993 1993
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 None 1.000 1 2008 2008
CUI: C0021841
Disease: Intestinal Neoplasms
Intestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 182 2 0.010 None 1.000 1 2018 2018
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: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		group Neoplasms Neoplastic Process 471 18 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: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 1 2016 2016
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: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2018 2018
CUI: C0263661
Disease: Disorder of skeletal system
Disorder of skeletal system 		group Musculoskeletal Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 1994 1994