MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 Biomarker disease BEFREE Microcephalin (MCPH1) is identified as being responsible for the neurodevelopmental disorder primary microcephaly type 1, which is characterized by a smaller-than-normal brain size and mental retardation. 27197793 2016
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE Our results suggest that there is little or no association between the MCPH1 c.940G allele and either microcephaly or MR. 19267414 2009
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. 16311745 2006