DYM, dymeclin, 54808

N. diseases: 155; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group BEFREE The difference rests on the presence or absence of intellectual disability, that is, intellectual disability in DMC and normal cognition in SMC. 28127940 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group BEFREE Dymeclin is a Golgi-associated protein whose deficiency causes Dyggve-Melchior-Clausen syndrome (DMC, MIM #223800), a rare recessively inherited spondyloepimetaphyseal dysplasia consistently associated with postnatal microcephaly and intellectual disability. 25652408 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 GeneticVariation group BEFREE Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. 15726110 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.130 Biomarker group HPO