CYCS, cytochrome c, somatic, 54205

N. diseases: 67; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918552
rs121918552
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C2677608
Disease:
Thrombocytopenia 4 		0.810 GeneticVariation BEFREE THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene. 24326104 2014
dbSNP: rs121918552
rs121918552
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C2677608
Disease:
Thrombocytopenia 4 		0.810 GeneticVariation UNIPROT A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. 18345000 2008
dbSNP: rs121918552
rs121918552
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C2677608
Disease:
Thrombocytopenia 4 		T 0.810 CausalMutation CLINVAR
dbSNP: rs1861525
rs1861525
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C0002395
Disease:
Alzheimer's Disease 		0.800 GeneticVariation GWASCAT Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
dbSNP: rs1861525
rs1861525
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C0002395
Disease:
Alzheimer's Disease 		0.800 GeneticVariation GWASDB Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014
dbSNP: rs121918552
rs121918552
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C0040034
Disease:
Thrombocytopenia 		T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121918552
rs121918552
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C0040034
Disease:
Thrombocytopenia 		0.710 GeneticVariation BEFREE THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene. 24326104 2014
dbSNP: rs1562515878
rs1562515878
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C2677608
Disease:
Thrombocytopenia 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886037737
rs886037737
Entrez Id: 54205
Gene Symbol: CYCS
CYCS
CUI: C2677608
Disease:
Thrombocytopenia 4 		G 0.700 CausalMutation CLINVAR