Disease: Olivopontocerebellar hypoplasia, fetal-onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		0.610 GermlineCausalMutation disease ORPHANET The PCH5 patient was found to be the result of compound heterozygosity for the common TSEN54 mutation (p.A307S) plus a novel splice site mutation. 21368912 2011
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		0.610 Biomarker disease GENOMICS_ENGLAND The PCH5 patient was found to be the result of compound heterozygosity for the common TSEN54 mutation (p.A307S) plus a novel splice site mutation. 21368912 2011
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		0.610 GeneticVariation disease BEFREE The PCH5 patient was found to be the result of compound heterozygosity for the common TSEN54 mutation (p.A307S) plus a novel splice site mutation. 21368912 2011
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		0.610 Biomarker disease GENOMICS_ENGLAND Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 20952379 2011
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		0.610 Biomarker disease GENOMICS_ENGLAND tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C1857762
Disease: Olivopontocerebellar hypoplasia, fetal-onset
Olivopontocerebellar hypoplasia, fetal-onset 		0.610 CausalMutation disease CLINVAR