Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Mental retardation Smith Fineman Myers type
0.310 GermlineCausalMutation disease ORPHANET Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. 10751095 2000
Mental retardation Smith Fineman Myers type
0.310 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