| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.300 | Biomarker | disease | CTD_human | GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. | 29905857 | 2018 | ||||
|
0.300 | Biomarker | disease | CTD_human | Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. | 16826520 | 2006 | ||||
|
0.300 | Biomarker | disease | CTD_human | Myasthenic syndrome caused by mutation of the SCN4A sodium channel. | 12766226 | 2003 | ||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.300 | Biomarker | disease | CTD_human | |||||||
|
0.010 | GeneticVariation | disease | BEFREE | Genetic testing for CMS revealed a homozygous pathogenic mutation in the rapsyn (RAPSN) gene (p.Asn88Lys). | 27397848 | 2017 | ||||
|
0.010 | Biomarker | disease | BEFREE | A diagnosis of SCCMS should not be ruled out in cases of CMS with an apparent recessive inheritance pattern. | 12141316 | 2002 |