Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0231687
Disease: Spastic gait
Spastic gait 		0.100 Biomarker phenotype HPO
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		0.100 Biomarker disease HPO
CUI: C0235081
Disease: Tremor, Limb
Tremor, Limb 		0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.100 Biomarker phenotype HPO
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0431371
Disease: Absence of septum pellucidum
Absence of septum pellucidum 		0.100 Biomarker disease HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.100 Biomarker phenotype HPO
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.100 Biomarker group HPO
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 Biomarker group HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		0.100 Biomarker disease HPO