Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 Biomarker disease GENOMICS_ENGLAND Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 27392077 2016
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 Biomarker disease GENOMICS_ENGLAND Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 27392077 2016
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 GeneticVariation disease UNIPROT Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 27392077 2016
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 GeneticVariation disease UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 Biomarker disease GENOMICS_ENGLAND Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 Biomarker disease GENOMICS_ENGLAND Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 CausalMutation disease CLINVAR
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
PONTOCEREBELLAR HYPOPLASIA, TYPE 2F 		0.700 Biomarker disease CTD_human