Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 GeneticVariation group CLINVAR
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation disease CLINVAR
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation disease CLINVAR
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 GeneticVariation disease CLINVAR
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0085271
Disease: Self-Injurious Behavior
Self-Injurious Behavior 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 GeneticVariation disease CLINVAR
CUI: C0233844
Disease: Clumsiness
Clumsiness 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0239676
Disease: High forehead
High forehead 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0431447
Disease: Synophrys
Synophrys 		0.100 GeneticVariation disease CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation phenotype CLINVAR
CUI: C0563243
Disease: Poor coordination
Poor coordination 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 GeneticVariation disease CLINVAR
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 GeneticVariation disease CLINVAR