| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | Biallelic variants in the NDE1 gene have been shown to occur in extreme microcephaly. | 30637988 | 2019 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors. | 29191162 | 2017 | ||||
|
0.180 | Biomarker | disease | BEFREE | Both are implicated in schizophrenia through genetic and functional evidence, with NDE1 also strongly implicated in microcephaly, as well as other neurodevelopmental and psychiatric conditions through copy number variation, while NDEL1 possesses an oligopeptidase activity with a unique potential as a biomarker in schizophrenia. | 27742926 | 2017 | ||||
|
0.180 | Biomarker | disease | BEFREE | These results reveal that the severity of NDE1-associated microcephaly results not from defects in mitosis, but rather the inability of neural progenitors to ever reach this stage. | 27553190 | 2016 | ||||
|
0.180 | Biomarker | disease | BEFREE | These observations broaden the phenotype seen in NDE1-related microcephaly to include FBD. | 23704059 | 2013 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | One ACC patient with microcephaly had a paternally inherited deletion of 16p13.11 that included NDE1. | 24098143 | 2013 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly. | 22526350 | 2012 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Here, we report two families with extreme microcephaly and grossly simplified cortical gyral structure, a condition referred to as microlissencephaly, and show that they carry homozygous frameshift mutations in NDE1, which encodes a multidomain protein that localizes to the centrosome and mitotic spindle poles. | 21529751 | 2011 | ||||
|
0.180 | Biomarker | disease | HPO |