Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1911
Gene Symbol: PHC1
PHC1 		0.410 GeneticVariation disease CLINVAR
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1 		0.400 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.390 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2 		0.370 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 284403
Gene Symbol: WDR62
WDR62 		0.370 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 22995
Gene Symbol: CEP152
CEP152 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 9662
Gene Symbol: CEP135
CEP135 		0.310 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10426
Gene Symbol: TUBGCP3
TUBGCP3 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 11113
Gene Symbol: CIT
CIT 		0.300 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 54617
Gene Symbol: INO80
INO80 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100506658
Gene Symbol: OCLN
OCLN 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 112714
Gene Symbol: TUBA3E
TUBA3E 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 116461
Gene Symbol: TSEN15
TSEN15 		0.100 GeneticVariation disease CLINVAR
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: 259266
Gene Symbol: ASPM
ASPM 		0.390 Biomarker disease BEFREE Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. 14641475 2003
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.390 GeneticVariation disease BEFREE Our observation adds to the mutation spectrum of ASPM in primary microcephaly, and is to our knowledge the second example of a constitutional, reciprocal translocation responsible for a bona fide autosomal recessive phenotype. 14997185 2004
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.390 GeneticVariation disease BEFREE Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. 15355437 2004
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: 259266
Gene Symbol: ASPM
ASPM 		0.390 GeneticVariation disease BEFREE We thus expand the clinical spectrum of ASPM mutations by showing that they can occur in patients with seizures and that the history of seizures alone should not necessarily preclude the diagnosis of primary microcephaly. 16141009 2005
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 Biomarker disease BEFREE Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. 16434882 2006
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		0.310 Biomarker disease GENOMICS_ENGLAND A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly. 16900296 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