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: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C4021847
Disease: Abnormal cartilage collagen
Abnormal cartilage collagen 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		disease Anatomical Abnormality 36 1 0.100 None 0 1
CUI: C4025628
Disease: Abnormal enchondral ossification
Abnormal enchondral ossification 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		disease Anatomical Abnormality 1 0.010 None 1.000 1 2003 2003
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 115 6 0.100 None 0
CUI: C4025356
Disease: Abnormal vitreous humor morphology
Abnormal vitreous humor morphology 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		phenotype Anatomical Abnormality 86 0.100 None 0
CUI: C4025664
Disease: Abnormality of fibula morphology
Abnormality of fibula morphology 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C4021945
Disease: Abnormality of globe size
Abnormality of globe size 		phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4020847
Disease: Abnormality of pelvic girdle bone morphology
Abnormality of pelvic girdle bone morphology 		disease Anatomical Abnormality 55 5 0.100 None 0
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 17 0.100 None 0
CUI: C1840535
Disease: Abnormality of the carpal bones
Abnormality of the carpal bones 		phenotype Musculoskeletal Diseases Finding 6 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		disease Anatomical Abnormality 97 0.100 None 0
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum 		phenotype Anatomical Abnormality 5 1 0.100 None 0 1
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2019 2019
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		phenotype Anatomical Abnormality 46 11 0.100 None 0
CUI: C4021744
Disease: Abnormality of the wrist
Abnormality of the wrist 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C4025424
Disease: Abnormality of ulnar metaphysis
Abnormality of ulnar metaphysis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4020953
Disease: Abnormality of vertebral epiphysis morphology
Abnormality of vertebral epiphysis morphology 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4025254
Disease: Absent styloid process of ulna
Absent styloid process of ulna 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		phenotype Finding 1 1 0.100 None 0 1
CUI: C3808270
Disease: Acetabular spurs
Acetabular spurs 		phenotype Finding 5 0.100 None 0