Disease: Pontocerebellar Hypoplasia Type 2A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation. 29410950 2018
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype? 27570394 2016
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR Natural course of pontocerebellar hypoplasia type 2A. 24886362 2014
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 GeneticVariation disease UNIPROT Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. 23307886 2014
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2. 23307886 2014
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2. 23177318 2013
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 Biomarker disease GENOMICS_ENGLAND TSEN54 mutations cause pontocerebellar hypoplasia type 5. 21368912 2011
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR TSEN54 mutations cause pontocerebellar hypoplasia type 5. 21368912 2011
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 Biomarker disease GENOMICS_ENGLAND Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. 20952379 2011
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 GeneticVariation disease BEFREE We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype. 20956791 2010
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? 20803644 2010
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 GeneticVariation disease UNIPROT tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 Biomarker disease GENOMICS_ENGLAND tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 CausalMutation disease CLINVAR tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 Biomarker disease CTD_human
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 GeneticVariation disease CLINVAR
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.710 Biomarker disease GENOMICS_ENGLAND