Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		0.300 GermlineCausalMutation disease ORPHANET tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C3489704
Disease: Vision Disability
Vision Disability 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.100 GeneticVariation phenotype GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 Biomarker phenotype HPO
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		0.100 CausalMutation disease CLINVAR
CUI: C4022154
Disease: Cerebellar hemisphere hypoplasia
Cerebellar hemisphere hypoplasia 		0.100 Biomarker disease HPO
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia 		0.010 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