MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. 28756000 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. 16311745 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group HPO