Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150801
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 		0.700 Biomarker disease CTD_human
CUI: C3539506
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.150 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.110 Biomarker phenotype HPO
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.110 Biomarker phenotype HPO
CUI: C0038379
Disease: Strabismus
Strabismus 		0.110 Biomarker disease HPO
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0009024
Disease: Clonus
Clonus 		0.100 Biomarker phenotype HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.100 Biomarker group HPO
CUI: C0030446
Disease: Paralytic Ileus
Paralytic Ileus 		0.100 Biomarker disease HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 CausalMutation disease CLINVAR
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.100 Biomarker disease HPO
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		0.100 Biomarker phenotype HPO