| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.750 | GeneticVariation | disease | BEFREE | Recently, germline mutations in collagen type IV alpha 1 (COL4A1) have been reported to be a genetic cause of schizencephaly as a result of prenatal stroke. | 31029817 | 2019 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Our findings confirm that cortical malformations should be considered to fall within the phenotypic spectrum of COL4A1 mutations and show that not only schizencephaly but also polymicrogyria can also be found in mutated individuals. | 30837194 | 2019 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event. | 30315939 | 2018 | ||||
|
0.750 | Biomarker | disease | GENOMICS_ENGLAND | Our study further emphasizes the need to search for both COL4A1 and COL4A2 mutations in children presenting with uni- or bilateral polymicrogyria with schizencephaly, even in the absence of intracranial microbleeds, calcification or associated systemic features. | 30315939 | 2018 | ||||
|
0.750 | Biomarker | disease | BEFREE | We suggest that COL4A1 testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors. | 26879631 | 2016 | ||||
|
0.750 | Biomarker | disease | CTD_human | Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. | 23225343 | 2013 | ||||
|
0.750 | GeneticVariation | disease | UNIPROT | Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. | 23225343 | 2013 | ||||
|
0.750 | GeneticVariation | disease | BEFREE | Our study first confirmed that COL4A1 mutations are associated with schizencephaly and hemolytic anemia. | 23225343 | 2013 | ||||
|
0.750 | Biomarker | disease | HPO |