CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776440
rs587776440
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR Clinical and molecular findings in children with complex I deficiency. 15576045 2004
dbSNP: rs587776440
rs587776440
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma. 15521990 2004
dbSNP: rs587776440
rs587776440
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. 14684687 2003
dbSNP: rs587776440
rs587776440
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. 11198278 2001