Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554690
Disease: ATAXIA-OCULOMOTOR APRAXIA 3
ATAXIA-OCULOMOTOR APRAXIA 3 		0.700 GeneticVariation disease UNIPROT A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C3554690
Disease: ATAXIA-OCULOMOTOR APRAXIA 3
ATAXIA-OCULOMOTOR APRAXIA 3 		0.700 CausalMutation disease CLINVAR
CUI: C3554690
Disease: ATAXIA-OCULOMOTOR APRAXIA 3
ATAXIA-OCULOMOTOR APRAXIA 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3554690
Disease: ATAXIA-OCULOMOTOR APRAXIA 3
ATAXIA-OCULOMOTOR APRAXIA 3 		0.700 Biomarker disease CTD_human
CUI: C1853761
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 		0.300 GermlineCausalMutation disease ORPHANET A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.300 GeneticVariation disease UNIPROT
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 GeneticVariation phenotype BEFREE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.110 GeneticVariation disease BEFREE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 GeneticVariation disease BEFREE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. 22065524 2012
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.110 Biomarker disease HPO
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 Biomarker disease HPO
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.100 Biomarker disease HPO
CUI: C0020580
Disease: Hypesthesia
Hypesthesia 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO