Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 CausalMutation disease CLINVAR Natural course of pontocerebellar hypoplasia type 2A. 24886362 2014
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 CausalMutation disease CLINVAR Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. 23177318 2013
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 20952379 2011
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 GeneticVariation disease BEFREE Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4. 21824568 2011
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		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
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND TSEN54 mutations cause pontocerebellar hypoplasia type 5. 21368912 2011
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 CausalMutation disease CLINVAR tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 GeneticVariation disease UNIPROT tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 GeneticVariation disease CLINVAR
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 Biomarker disease CTD_human
CUI: C1856974
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 4 (disorder) 		0.710 GermlineCausalMutation disease ORPHANET