COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
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: C1266156
Disease: Multicystic mesothelioma, benign
Multicystic mesothelioma, benign 		disease Neoplasms Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C2584751
Disease: Severe hereditary factor VIII deficiency disease without inhibitor
Severe hereditary factor VIII deficiency disease without inhibitor 		disease Disease or Syndrome 1 0.010 None 1.000 1 1992 1992
CUI: C0263675
Disease: Chronic arthropathy
Chronic arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 2 0.010 None 1.000 1 1988 1988
CUI: C0266604
Disease: Congenital aplasia of inner ear
Congenital aplasia of inner ear 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.010 None 1.000 1 2017 2017
CUI: C0542259
Disease: Morphological abnormality of the vestibule of the inner ear
Morphological abnormality of the vestibule of the inner ear 		group Anatomical Abnormality 2 0.010 None 1.000 1 2017 2017
CUI: C0574027
Disease: Vertebral artery aneurysm
Vertebral artery aneurysm 		disease Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1096487
Disease: Hereditary factor VIII deficiency disease without inhibitor
Hereditary factor VIII deficiency disease without inhibitor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C1853162
Disease: Osteogenesis Imperfecta Type VII
Osteogenesis Imperfecta Type VII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 13 0.010 None 1.000 1 2010 2010
CUI: C3541340
Disease: PONTINE TEGMENTAL CAP DYSPLASIA
PONTINE TEGMENTAL CAP DYSPLASIA 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2019 2019
CUI: C0472801
Disease: Hemophilia A carrier
Hemophilia A carrier 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.050 None 1.000 5 1982 2015
CUI: C2873785
Disease: Deficiency of factor V [labile]
Deficiency of factor V [labile] 		disease Disease or Syndrome 3 0.030 None 1.000 3 1976 2013
CUI: C0264700
Disease: Acute Inferior Myocardial Infarction
Acute Inferior Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0398627
Disease: Inherited platelet disorder
Inherited platelet disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 1984 1984
CUI: C0474740
Disease: Cerebellopontine Angle Tumor
Cerebellopontine Angle Tumor 		disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C0521785
Disease: Hearing Loss, Unilateral
Hearing Loss, Unilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0917811
Disease: Nerve Entrapment
Nerve Entrapment 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1992 1992
CUI: C1282974
Disease: von Willebrand disease type 2M
von Willebrand disease type 2M 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 2006 2006
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 5 0.010 None 1.000 1 1982 1982
CUI: C2873786
Disease: Deficiency of factor VII [stable]
Deficiency of factor VII [stable] 		disease Disease or Syndrome 3 0.010 None 1.000 1 2009 2009
CUI: C0272323
Disease: Moderate hereditary factor VIII deficiency disease
Moderate hereditary factor VIII deficiency disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 1 0.100 None 1.000 11 1984 2019
CUI: C0272342
Disease: Familial multiple factor deficiency syndrome, type I
Familial multiple factor deficiency syndrome, type I 		disease Disease or Syndrome 4 0.020 None 1.000 2 2011 2017
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 1998 1998
CUI: C1282968
Disease: von Willebrand Disease, Type 2A
von Willebrand Disease, Type 2A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 4 17 0.010 None 1.000 1 2010 2010
CUI: C1861732
Disease: SPINOCEREBELLAR ATAXIA 29
SPINOCEREBELLAR ATAXIA 29 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 10 0.010 None 1.000 1 2018 2018