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.
Osteogenesis imperfecta type IV (disorder)
disease Disease or Syndrome; Congenital Abnormality 12 65 0.970 None 1.000 22 35 1989 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 20 1 1957 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2018 2019
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
disease Disease or Syndrome 5 81 0.500 None 1.000 4 1 1991 2007
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.210 None 1.000 3 2009 2019
CUI: C0432253
Disease: Bruck syndrome
Bruck syndrome
disease Disease or Syndrome 6 0.020 None 1.000 2 2012 2014
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.020 None 1.000 2 2018 2018
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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0028259
Disease: Nodule
Nodule
phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2007 2007
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2019 2019
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2019 2019
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2019 2019
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 1 2019 2019
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia
disease Congenital Abnormality 53 5 0.010 None 1.000 1 2015 2015
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
phenotype Laboratory or Test Result 269 549 0.100 None 1.000 1 1 2019 2019
CUI: C0740404
Disease: Limb defects
Limb defects
group Congenital Abnormality 67 2 0.010 None 1.000 1 2006 2006
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2019 2019
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma
disease Neoplastic Process 1 0.010 None < 0.001 1 2019 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019