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: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 65 44 0.620 None 1.000 5 7 1999 2011
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.600 None 1.000 3 13 1994 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5473 1962 0.500 None 1.000 12 2 1994 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.330 None 1.000 4 1998 2006
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis
phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 1 2002 2002
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
group Cardiovascular Diseases Disease or Syndrome 108 1 0.300 None 1.000 1 2003 2003
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal
disease Neoplasms; Animal Diseases Neoplastic Process 144 0.300 None 1.000 1 2002 2002
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2002 2002
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Disease or Syndrome 100 46 0.300 None 1.000 1 5 1992 1992
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group Cardiovascular Diseases Disease or Syndrome 101 0.300 None 1.000 1 2003 2003
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.300 None 1.000 1 2003 2003
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 1 2002 2002
CUI: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms
phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2002 2002
CUI: C0020564
Disease: Hypertrophy
Hypertrophy
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 18 0.300 None 1.000 1 2010 2010
CUI: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 1 2002 2002
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.300 None 1.000 1 2002 2002
CUI: C4274324
Disease: Genetic recurrent myoglobinuria
Genetic recurrent myoglobinuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Finding 3 0.300 None 0
Deafness, Sensorineural, Autosomal-Mitochondrial Type
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 0.300 None 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.220 None 1.000 3 1989 2018
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 452 22 0.200 None 1.000 1 1989 1989
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.200 None 1.000 1 1989 1989
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 373 95 0.200 None 1.000 1 2007 2007
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 1649 88 0.200 None 1.000 1 1989 1989
Hepatoblastoma Caused By Somatic Mutation
disease Digestive System Diseases; Neoplasms Neoplastic Process 106 0.200 None 1.000 1 1989 1989
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.140 None 0.750 4 1 2000 2019