rs122445111, ATRX

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juberg-Marsidi syndrome
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
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
0.700 GeneticVariation UNIPROT Asplenia in ATR-X syndrome: a second report. 16222662 2005
Juberg-Marsidi syndrome
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
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
0.700 GeneticVariation UNIPROT Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome. 11050622 2000
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
0.700 GeneticVariation UNIPROT Carpenter-Waziri syndrome results from a mutation in XNP. 10398237 1999
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
0.700 GeneticVariation UNIPROT XNP mutation in a large family with Juberg-Marsidi syndrome. 8630485 1996
MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
CUI: C4016452
Disease: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
0.700 CausalMutation CLINVAR