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: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 119 49 0.010 None < 0.001 1 2 2020 2020
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2020 2020
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 342 108 0.010 None 1.000 1 2020 2020
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.020 None 1.000 2 2019 2020
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2053 329 0.020 None 0.500 2 2019 2019
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 503 64 0.020 None 1.000 2 2019 2019
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2019 2020
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.010 None < 0.001 1 2019 2019
CUI: C1275239
Disease: Dermatomyofibroma
Dermatomyofibroma 		disease Neoplastic Process 1 0.010 None < 0.001 1 2019 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2019 2019
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2019 2019
CUI: C0341539
Disease: Parastomal hernia
Parastomal hernia 		phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 5 0.010 None < 0.001 1 2019 2019
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.300 None 1.000 1 2019 2019
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2019 2019
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 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 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2019 2019
CUI: C0031030
Disease: Periapical Periodontitis
Periapical Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 90 5 0.010 None 1.000 1 2019 2019
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.010 None 1.000 1 2019 2019
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 14 12 0.010 None 1.000 1 2019 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2019 2019
CUI: C1858556
Disease: OVERLAP CONNECTIVE TISSUE DISEASE
OVERLAP CONNECTIVE TISSUE DISEASE 		disease Eye Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 36 31 0.010 None 1.000 1 2019 2019
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2019 2019
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: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 970 22 0.010 None 1.000 1 2019 2019