CYBB, cytochrome b-245 beta chain, 1536

N. diseases: 343; N. variants: 75
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: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.100 None 1.000 11 2012 2020
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 2011 2017
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.030 None 1.000 3 2013 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.020 None 1.000 2 2014 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		disease Disease or Syndrome 49 13 0.010 None 1.000 1 2019 2019
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 2011 2011
CUI: C1962942
Disease: TRICHOMONAS VAGINALIS (finding)
TRICHOMONAS VAGINALIS (finding) 		disease Disease or Syndrome 56 0.010 None 1.000 1 2017 2017
CUI: C1963943
Disease: Atherothrombosis
Atherothrombosis 		disease Acquired Abnormality 115 15 0.010 None 1.000 1 2017 2017
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2009 2009
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2019 2019
CUI: C2242826
Disease: Myeloblastic leukemia
Myeloblastic leukemia 		disease Neoplastic Process 22 0.010 None 1.000 1 2002 2002
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2015 2015
CUI: C3160909
Disease: Autoimmune arthritis
Autoimmune arthritis 		disease Disease or Syndrome 113 0.010 None 1.000 1 2017 2017
CUI: C3178782
Disease: Aortic Stiffness
Aortic Stiffness 		phenotype Disease or Syndrome 61 11 0.010 None 1.000 1 2018 2018
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2019 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		disease Disease or Syndrome 632 9 0.010 None 1.000 1 2017 2017
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		phenotype Finding 74 1 0.100 None 0
CUI: C0521173
Disease: Granulomatosis
Granulomatosis 		disease Disease or Syndrome 14 1 0.100 None 0
CUI: C1835686
Disease: Recurrent bacterial skin infections
Recurrent bacterial skin infections 		phenotype Finding 13 1 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule 		phenotype Finding 59 2 0.100 None 0
CUI: C1844385
Disease: Absence of bactericidal oxidative respiratory burst in phagocytes
Absence of bactericidal oxidative respiratory burst in phagocytes 		phenotype Finding 4 0.100 None 0
CUI: C1844390
Disease: Deficiency or absence of cytochrome b(-245)
Deficiency or absence of cytochrome b(-245) 		phenotype Finding 2 0.100 None 0
CUI: C1844394
Disease: Decreased activity of NADPH oxidase
Decreased activity of NADPH oxidase 		phenotype Finding 5 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		phenotype Finding 175 0.100 None 0