Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. | 27250695 | 2016 |
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|
C | 0.700 | CausalMutation | CLINVAR | Genetic heterogeneity in Pakistani microcephaly families. | 22775483 | 2013 |
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|
C | 0.700 | CausalMutation | CLINVAR | A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. | 20978018 | 2010 |
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|
C | 0.700 | CausalMutation | CLINVAR | The molecular landscape of ASPM mutations in primary microcephaly. | 19028728 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family. | 19332161 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. | 19770472 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. | 18452193 | 2008 |
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|
C | 0.700 | CausalMutation | CLINVAR | Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. | 15806441 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | ASPM mutations identified in patients with primary microcephaly and seizures. | 16141009 | 2005 |
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|
C | 0.700 | CausalMutation | CLINVAR | ASPM is a major determinant of cerebral cortical size. | 12355089 | 2002 |