Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		0.600 CausalMutation disease CLINVAR
CUI: C4014343
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 		0.600 Biomarker disease CTD_human
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.200 Biomarker disease MGD
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO
CUI: C3810365
Disease: Central visual impairment
Central visual impairment 		0.120 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.110 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO