COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 218; N. variants: 266
Source: INFERRED ×
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: C0023931
Disease: Lobstein Disease
Lobstein Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 1.000 None 0.976 89 176 1988 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 335 0.100 None 1.000 20 1 1957 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 954 0.100 None 1.000 20 2 1957 2017
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 3 0.900 None 0.984 3 36 1985 2020
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		phenotype Laboratory or Test Result 139 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 0.100 None 1.000 1 1 2019 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 0.100 None 1.000 1 1 2019 2019
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		phenotype Laboratory Procedure 145 0.100 None 1.000 1 1 2019 2019
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 90 0.110 None 1.000 1 1 2010 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 377 0.160 None 0.833 1 1 2007 2018
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		phenotype Laboratory Procedure 139 0.100 None 1.000 1 1 2019 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 0.100 None 1.000 1 1 2019 2019
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		phenotype Laboratory Procedure 223 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 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 0.100 None 1.000 1 1 2019 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 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 0.100 None 1.000 1 1 2019 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 108 0.150 None 0.800 1 1 2007 2018
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 0.100 None 1.000 1 1 2019 2019
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
Osteogenesis imperfecta type IV (disorder) 		disease Disease or Syndrome; Congenital Abnormality 2 0.970 None 1.000 1 21 1989 2018
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 0.990 None 1.000 1 22 1989 2018
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 0.100 None 1.000 1 1 2019 2019
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		phenotype Finding 93 0.100 None 0
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		phenotype Finding 30 0.100 None 0 2
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 0.100 None 0 1