| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.310 | GeneticVariation | disease | BEFREE | Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI). | 18946002 | 2008 | ||||
|
0.310 | GermlineCausalMutation | disease | ORPHANET | |||||||
|
0.300 | Biomarker | disease | CTD_human | Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. | 23176824 | 2012 | ||||
|
0.300 | Biomarker | disease | CTD_human | Constructs of human neuropathy target esterase catalytic domain containing mutations related to motor neuron disease have altered enzymatic properties. | 20382209 | 2010 | ||||
|
0.300 | Biomarker | disease | CTD_human | Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. | 18252231 | 2008 | ||||
|
0.300 | Biomarker | disease | CTD_human | Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. | 14634649 | 2003 | ||||
|
0.010 | Biomarker | disease | BEFREE | Findings obtained in the present study, broadening the spectrum of clinical manifestations of disorders associated with HSP27 mutations, support the hypothesis of a continuum between CMT2 and dHMN forms and suggest a possible common spectrum between these entities and several forms of CMT plus pyramidal features (HMSN V), providing important implications for molecular genetic testing. | 20660910 | 2010 | ||||
|
0.010 | Biomarker | disease | BEFREE | Findings obtained in the present study, broadening the spectrum of clinical manifestations of disorders associated with HSP27 mutations, support the hypothesis of a continuum between CMT2 and dHMN forms and suggest a possible common spectrum between these entities and several forms of CMT plus pyramidal features (HMSN V), providing important implications for molecular genetic testing. | 20660910 | 2010 |