COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
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: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0
CUI: C0031099
Disease: Periodontitis
Periodontitis
disease Stomatognathic Diseases Disease or Syndrome 682 116 0.100 None 0
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
phenotype Stomatognathic Diseases Finding 82 19 0.100 None 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss
phenotype Stomatognathic Diseases Finding 25 0.100 None 0
Precocious exfoliation of primary tooth
phenotype Stomatognathic Diseases Finding 20 0.100 None 0
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth
phenotype Stomatognathic Diseases Finding 100 5 0.100 None 0
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.080 None 0.875 8 2006 2020
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.210 None 1.000 3 1987 2015
CUI: C0011644
Disease: Scleroderma
Scleroderma
disease Skin and Connective Tissue Diseases Disease or Syndrome 316 5 0.010 None 1.000 1 1987 1987
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation
phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 480 105 0.010 None 1.000 1 2017 2017
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes
disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta
phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 34 16 0.110 None 1.000 1 2015 2015
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.320 None 1.000 3 2013 2018
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 803 63 0.020 None 1.000 2 2005 2013
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2015 2015
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
Nonspecific interstitial pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2019 2019
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing
disease Respiratory Tract Diseases Disease or Syndrome 91 4 0.300 None 1.000 1 2016 2016
CUI: C0032326
Disease: Pneumothorax
Pneumothorax
phenotype Respiratory Tract Diseases Disease or Syndrome 69 3 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0149781
Disease: Spontaneous pneumothorax
Spontaneous pneumothorax
disease Respiratory Tract Diseases Disease or Syndrome 30 6 0.100 None 0
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.310 None 1.000 2 2010 2017
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0