COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
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: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.080 None 1.000 8 1 2000 2011
CUI: C0016663
Disease: Pathological fracture
Pathological fracture 		phenotype Wounds and Injuries Pathologic Function 35 2 0.100 None 0 1
CUI: C0240231
Disease: Fractures of the long bones
Fractures of the long bones 		phenotype Wounds and Injuries Finding 6 1 0.100 None 0 1
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0 1
CUI: C0029172
Disease: Oral Submucous Fibrosis
Oral Submucous Fibrosis 		disease Stomatognathic Diseases Disease or Syndrome 106 8 0.310 None 1.000 2 2002 2006
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.110 None 1.000 1 2018 2018
CUI: C0031030
Disease: Periapical Periodontitis
Periapical Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 90 5 0.010 None 1.000 1 2019 2019
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 287 99 0.010 None 1.000 1 2004 2004
CUI: C3874346
Disease: Skeletal malocclusion
Skeletal malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 5 3 0.010 None 1.000 1 2015 2015
CUI: C0266061
Disease: Open Bite
Open Bite 		phenotype Stomatognathic Diseases Congenital Abnormality 38 0.100 None 0
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2015 2015
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 450 89 0.010 None 1.000 1 2008 2008
CUI: C0152093
Disease: Hypermobility syndrome
Hypermobility syndrome 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C0410000
Disease: Overlap syndrome
Overlap syndrome 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 57 2 0.010 None 1.000 1 2017 2017
CUI: C0042109
Disease: Urticaria
Urticaria 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.100 None 1.000 16 1990 2019
CUI: C0011644
Disease: Scleroderma
Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.040 None 1.000 4 2004 2012
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.030 None 1.000 3 1989 2015
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.020 None 1.000 2 1 2006 2016
CUI: C0085119
Disease: Foot Ulcer
Foot Ulcer 		disease Skin and Connective Tissue Diseases Disease or Syndrome 25 3 0.010 None < 0.001 1 2015 2015
CUI: C0221271
Disease: Elastosis perforans serpiginosa
Elastosis perforans serpiginosa 		disease Skin and Connective Tissue Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 2013 2013
CUI: C0406500
Disease: Lipodermatosclerosis
Lipodermatosclerosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 14 0.010 None 1.000 1 2005 2005
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 56 5 0.010 None 1.000 1 1996 1996
CUI: C0013595
Disease: Eczema
Eczema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 863 368 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer 		phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0