COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.040 None 1.000 4 1998 2013
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.030 None 1.000 3 2000 2002
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.030 None 1.000 3 2017 2019
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		disease Congenital Abnormality 25 7 0.030 None 1.000 3 2008 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2001 2010
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2014 2017
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		disease Acquired Abnormality 115 15 0.020 None 1.000 2 2006 2014
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.020 None 1.000 2 2013 2018
CUI: C0028259
Disease: Nodule
Nodule 		phenotype Acquired Abnormality 278 19 0.010 None 1.000 1 2019 2019
CUI: C0150841
Disease: muscle pain or weakness
muscle pain or weakness 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2005 2005
CUI: C0221106
Disease: Alkalemia
Alkalemia 		disease Disease or Syndrome 38 0.010 None 1.000 1 2019 2019
CUI: C0221760
Disease: brain cyst
brain cyst 		disease Disease or Syndrome 18 0.010 None 1.000 1 2020 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 2012 2012
CUI: C0741250
Disease: aspirin sensitivity
aspirin sensitivity 		phenotype Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C1285498
Disease: Vegetation
Vegetation 		disease Anatomical Abnormality 67 0.010 None 1.000 1 2018 2018
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		phenotype Disease or Syndrome 75 2 0.010 None 1.000 1 2013 2013
CUI: C1518715
Disease: Ovarian Fetiform Teratoma
Ovarian Fetiform Teratoma 		disease Neoplastic Process 3 0.010 None 1.000 1 2015 2015
CUI: C0234428
Disease: Disturbance of consciousness
Disturbance of consciousness 		phenotype Finding 35 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		phenotype Finding 49 5 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype Pathologic Function 306 12 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0