DAXX, death domain associated protein, 1616

N. diseases: 137; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2073524
rs2073524
Entrez Id: 1616;113523636
Gene Symbol: DAXX;SMIM40
DAXX;SMIM40
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs1174235669
rs1174235669
Entrez Id: 1616;113523636
Gene Symbol: DAXX;SMIM40
DAXX;SMIM40
CUI: C0206064
Disease:
Microvascular Angina 		0.010 GeneticVariation BEFREE Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. 22286061 2012
dbSNP: rs1174235669
rs1174235669
Entrez Id: 1616;113523636
Gene Symbol: DAXX;SMIM40
DAXX;SMIM40
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE Mutations in ATRX (α-thalassaemia/mental retardation syndrome X-linked) and DAXX (death-domain associated protein), encoding two subunits of a chromatin remodelling complex required for H3.3 incorporation at pericentric heterochromatin and telomeres, were identified in 31% of samples overall, and in 100% of tumours harbouring a G34R or G34V H3.3 mutation. 22286061 2012