COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
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: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		disease Disease or Syndrome 5 81 0.100 None 1.000 42 38 1984 2018
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		disease Disease or Syndrome; Congenital Abnormality 12 65 0.800 strong 1.000 25 28 1985 2015
CUI: C4538407
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		disease Disease or Syndrome 4 37 0.100 None 1.000 18 13 1984 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 16 1 1979 2018
CUI: C3665629
Disease: Dental fluorosis
Dental fluorosis 		disease Congenital Abnormality 24 3 0.030 None 0.667 3 2008 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2018 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1989 1996
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.010 None 1.000 1 2012 2012
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0008060
Disease: child abuse behavior
child abuse behavior 		phenotype Mental or Behavioral Dysfunction 40 11 0.010 None 1.000 1 2016 2016
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0263009
Disease: Sclerosis of the skin
Sclerosis of the skin 		disease Disease or Syndrome 22 0.010 None 1.000 1 1998 1998
CUI: C0858864
Disease: Spot pigmented
Spot pigmented 		disease Disease or Syndrome 8 0.010 None 1.000 1 2017 2017
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 1.000 1 1 2016 2016
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy 		disease Disease or Syndrome 56 67 0.010 None 1.000 1 1 2012 2012
CUI: C1511789
Disease: Desmoplastic
Desmoplastic 		disease Disease or Syndrome 117 4 0.010 None 1.000 1 2008 2008
CUI: C1855340
Disease: Bowing of the long bones
Bowing of the long bones 		phenotype Congenital Abnormality 63 5 0.100 None 1.000 1 1 2016 2016
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		phenotype Laboratory Procedure 82 123 0.100 None 1.000 1 1 2012 2012
CUI: C3150911
Disease: GASTRIC CANCER, INTESTINAL
GASTRIC CANCER, INTESTINAL 		disease Neoplastic Process 34 3 0.010 None 1.000 1 2017 2017
CUI: C3544347
Disease: Intestinal fibrosis
Intestinal fibrosis 		phenotype Anatomical Abnormality 65 0.010 None 1.000 1 2013 2013
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2012 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		phenotype Finding 69 8 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		phenotype Finding 50 11 0.100 None 0
CUI: C0241181
Disease: Fragile skin
Fragile skin 		phenotype Finding 26 5 0.100 None 0