Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 Biomarker disease BEFREE Here we report on a new clinical manifestation of CDK5RAP2 and expand the phenotype of primary microcephaly type 3. 29271474 2018
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 Biomarker disease BEFREE CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. 28004182 2017
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 GeneticVariation disease BEFREE Despite being known as MCPH linked gene for more than a decade, the phenotypic spectrum of CDK5RAP2 mutations is still under explored as only eleven families have been reported worldwide. 28778786 2017
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 Biomarker disease BEFREE Knowledge of this expression of different forms of CDK5RAP2 in human, rat and mouse is essential in selecting the appropriate model for studies of CDK5RAP2 and primary microcephaly but our findings further indicate the evolutionary divergence of mouse from the human and rat species. 26550838 2015
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 GeneticVariation disease BEFREE Next generation sequencing analysis of a 6 year old female with primary microcephaly identified novel compound heterozygous mutations (c.524_528del and c.4005-1G>A) in the CDK5RAP2 gene. 23726037 2014
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 GeneticVariation disease BEFREE Haplotype analysis using microsatellite markers around the MCPH1-7 and PNKP loci in an Italian family with two sons with primary microcephaly, revealed possible linkage to the MCPH3 locus. 23587236 2013
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 GeneticVariation disease BEFREE A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. 22887808 2012
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.370 Biomarker disease GENOMICS_ENGLAND