Source: ALL
| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | CausalMutation | disease | CLINVAR | Natural course of pontocerebellar hypoplasia type 2A. | 24886362 | 2014 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. | 23177318 | 2013 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. | 20952379 | 2011 | ||||
|
0.710 | GeneticVariation | disease | BEFREE | Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. | 21824568 | 2011 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | We describe a molecularly confirmed case of pontocerebellar hypoplasia type 4, a rare and severe neonatal phenotype with a novel TSEN54 mutation, presenting with polyhydramnios, hypertonia, and early neonatal death. | 21824568 | 2011 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | TSEN54 mutations cause pontocerebellar hypoplasia type 5. | 21368912 | 2011 | ||||
|
0.710 | CausalMutation | disease | CLINVAR | tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. | 18711368 | 2008 | ||||
|
0.710 | GeneticVariation | disease | UNIPROT | tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. | 18711368 | 2008 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. | 18711368 | 2008 | ||||
|
0.710 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.710 | GeneticVariation | disease | CLINVAR | |||||||
|
0.710 | Biomarker | disease | CTD_human | |||||||
|
0.710 | GermlineCausalMutation | disease | ORPHANET |