×
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
CDK5RAP2
0.690
Biomarker
disease
GENOMICS_ENGLAND
CDK5RAP2
0.690
CausalMutation
disease
CLINVAR
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