| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.390 | GeneticVariation | disease | BEFREE | In addition, using patient-specific induced pluripotent stem cells (iPSCs) with dysfunction of the Aspm gene from a primary microcephaly patient, we demonstrate neurogenesis defects result in defective neuronal activity in patient organoids, suggesting a new strategy to study human developmental diseases in central nerve system. | 29058117 | 2017 | ||||
|
0.390 | Biomarker | disease | BEFREE | Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations. | 27250695 | 2016 | ||||
|
0.390 | Biomarker | disease | BEFREE | Studies of ASPM and WDR62 should perhaps be pursued in all cases of primary microcephaly with or without gross brain malformations. | 22308068 | 2012 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. | 19770472 | 2009 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. | 18452193 | 2008 | ||||
|
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 | ||||
|
0.390 | GeneticVariation | disease | BEFREE | Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations. | 15355437 | 2004 | ||||
|
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 | ||||
|
0.390 | Biomarker | disease | BEFREE | Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1. | 14641475 | 2003 | ||||
|
0.390 | Biomarker | disease | GENOMICS_ENGLAND |