ATRX, ATRX chromatin remodeler, 546

N. diseases: 412; N. variants: 38
Disease: Acrocephalopolysyndactyly type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275078
Disease: Acrocephalopolysyndactyly type 2
Acrocephalopolysyndactyly type 2 		0.010 Biomarker disease BEFREE Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia]. 11449489 2000