Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. 28756000 2018
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE MCPH1, mutated in primary microcephaly, is required for efficient chromosome alignment during mitosis. 29026105 2017
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 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
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE Mutations in the MCPH1 gene result in primary microcephaly in combination with a unique cellular phenotype of defective chromosome condensation. 25845520 2015
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE Microcephalin 1 (MCPH1) gene, initially identified as an hTERT repressor, result in two autosomal recessive disorders: primary microcephaly and premature chromosome condensation syndrome. 25197360 2014
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE Mutations in the MCPH1 (Microcephalin) and ASPM (abnormal spindle-like microcephaly associated) genes cause primary microcephaly. 24830737 2014
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE MCPH1 mutations cause primary microcephaly in humans. 23516444 2013
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE Mutations in the MCPH1 gene cause primary microcephaly associated with a unique cellular phenotype of misregulated chromosome condensation. 21150325 2010
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 Biomarker disease BEFREE Replication-independent G2/M checkpoint arrest represents a suitable assay to specifically identify patients with defective ATR signalling, including Seckel syndrome, Nijmegen breakage syndrome and MCPH-1-dependent primary microcephaly. 18664457 2008
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 Biomarker disease BEFREE Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. 16434882 2006
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 Biomarker disease BEFREE MCPH1, the first Primary Microcephaly causative gene identified, encodes three BRCT domains, similar to other damage response proteins. 17102619 2006
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 Biomarker disease BEFREE BRIT1 is identical to the recently discovered MCPH1 gene, found mutant in patients with primary microcephaly. 16217032 2005
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE Microcephalin (MCPH1) and Abnormal spindle-like microcephaly associated (ASPM) are genes mutated in primary microcephaly, a human neurodevelopmental disorder. 15917198 2005
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 GeneticVariation disease BEFREE We previously mapped the MCPH1 locus, for primary microcephaly, to chromosome 8p23, and here we report that a gene within this interval, encoding a BRCA1 C-terminal domain-containing protein, is mutated in MCPH1 families sharing an ancestral 8p23 haplotype. 12046007 2002
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.400 Biomarker disease GENOMICS_ENGLAND