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
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.400 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.400 Biomarker disease HPO
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.400 Biomarker phenotype HPO
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.310 GeneticVariation disease BEFREE Mutations in the transfer RNA splicing endonuclease subunit genes (TSEN54, TSEN2, TSEN34) were found to be associated with pontocerebellar hypoplasia types 2 and 4. 20952379 2011
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		0.310 Biomarker disease GENOMICS_ENGLAND tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.300 Biomarker group CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.300 Biomarker group CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		0.300 Biomarker group CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0233769
Disease: Micropsia
Micropsia 		0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0233771
Disease: Macropsia
Macropsia 		0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0267071
Disease: Oropharyngeal Dysphagia
Oropharyngeal Dysphagia 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0271185
Disease: Metamorphopsia
Metamorphopsia 		0.300 Biomarker phenotype CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008