Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 Biomarker disease HPO
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.100 Biomarker disease HPO
CUI: C0085633
Disease: Mood swings
Mood swings 		0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 GeneticVariation disease CLINVAR
CUI: C0268630
Disease: Hyper-beta-alaninemia
Hyper-beta-alaninemia 		0.100 Biomarker phenotype HPO
CUI: C0277873
Disease: Nasal Flaring
Nasal Flaring 		0.100 Biomarker phenotype HPO
CUI: C0302511
Disease: Small for gestational age fetus
Small for gestational age fetus 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation disease CLINVAR
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.100 Biomarker disease HPO
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.100 Biomarker phenotype HPO
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		0.100 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.100 CausalMutation phenotype CLINVAR
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 GeneticVariation phenotype CLINVAR