ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Juberg-Marsidi syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122445109
rs122445109
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease:
Juberg-Marsidi syndrome 		0.700 GeneticVariation UNIPROT Asplenia in ATR-X syndrome: a second report. 16222662 2005
dbSNP: rs122445109
rs122445109
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease:
Juberg-Marsidi syndrome 		0.700 GeneticVariation UNIPROT A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation. 15565397 2005
dbSNP: rs122445109
rs122445109
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease:
Juberg-Marsidi syndrome 		0.700 GeneticVariation UNIPROT Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. 10751095 2000
dbSNP: rs122445109
rs122445109
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease:
Juberg-Marsidi syndrome 		0.700 GeneticVariation UNIPROT Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622 2000
dbSNP: rs122445109
rs122445109
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease:
Juberg-Marsidi syndrome 		0.700 GeneticVariation UNIPROT Carpenter-Waziri syndrome results from a mutation in XNP. 10398237 1999
dbSNP: rs122445109
rs122445109
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C0796003
Disease:
Juberg-Marsidi syndrome 		0.700 GeneticVariation UNIPROT XNP mutation in a large family with Juberg-Marsidi syndrome. 8630485 1996