Disease: Pontocerebellar Hypoplasia Type 2C ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 20952379 2011
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		0.700 GeneticVariation disease UNIPROT tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		0.700 Biomarker disease GENOMICS_ENGLAND tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		0.700 CausalMutation disease CLINVAR
CUI: C2676465
Disease: Pontocerebellar Hypoplasia Type 2C
Pontocerebellar Hypoplasia Type 2C 		0.700 Biomarker disease CTD_human