Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
0.700 GermlineCausalMutation disease ORPHANET
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
0.700 CausalMutation disease CLINVAR
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
0.700 GeneticVariation disease CLINVAR
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.690 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.690 CausalMutation disease CLINVAR
Entrez Id: 55755
Gene Symbol: CDK5RAP2
CDK5RAP2
0.690 GermlineCausalMutation disease ORPHANET
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.500 CausalMutation disease CLINVAR
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.500 GermlineCausalMutation disease ORPHANET
Entrez Id: 6491
Gene Symbol: STIL
STIL
0.440 CausalMutation disease CLINVAR
Entrez Id: 6491
Gene Symbol: STIL
STIL
0.440 GermlineCausalMutation disease ORPHANET
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
0.430 CausalMutation disease CLINVAR
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
0.430 GeneticVariation disease CLINVAR
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
0.430 GermlineCausalMutation disease ORPHANET
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
0.400 GermlineCausalMutation disease ORPHANET
Entrez Id: 11113
Gene Symbol: CIT
CIT
0.400 CausalMutation disease CLINVAR
Entrez Id: 22995
Gene Symbol: CEP152
CEP152
0.320 GermlineCausalMutation disease ORPHANET
Entrez Id: 57082
Gene Symbol: KNL1
KNL1
0.320 GermlineCausalMutation disease ORPHANET
Entrez Id: 9662
Gene Symbol: CEP135
CEP135
0.310 GermlineCausalMutation disease ORPHANET
Entrez Id: 80254
Gene Symbol: CEP63
CEP63
0.310 GermlineCausalMutation disease ORPHANET
Entrez Id: 1911
Gene Symbol: PHC1
PHC1
0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
0.700 Biomarker disease BEFREE Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. 11067780 2000
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
0.500 GeneticVariation disease BEFREE Although genetic heterogeneity for this clinical phenotype had been expected, this has only recently been demonstrated, with the mapping of two loci for autosomal recessive primary microcephaly: MCPH1 at 8p and MCPH2 at 19q. 10677332 2000
Entrez Id: 284403
Gene Symbol: WDR62
WDR62
0.400 Biomarker disease BEFREE Although genetic heterogeneity for this clinical phenotype had been expected, this has only recently been demonstrated, with the mapping of two loci for autosomal recessive primary microcephaly: MCPH1 at 8p and MCPH2 at 19q. 10677332 2000
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
0.700 GeneticVariation disease BEFREE Here we show that the most common cause of MCPH is homozygous mutation of ASPM, the human ortholog of the Drosophila melanogaster abnormal spindle gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. 12355089 2002