Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.100 Biomarker phenotype HPO
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		0.100 Biomarker phenotype HPO
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.100 Biomarker phenotype HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.100 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		0.100 Biomarker phenotype HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		0.100 Biomarker disease HPO
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		0.100 Biomarker phenotype HPO
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		0.100 Biomarker phenotype HPO
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		0.100 Biomarker phenotype HPO
CUI: C1849148
Disease: Decreased sensory nerve conduction velocity
Decreased sensory nerve conduction velocity 		0.100 Biomarker phenotype HPO
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		0.100 Biomarker phenotype HPO
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO