Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 Biomarker disease CTD_human
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 CausalMutation disease CLINVAR
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.430 Biomarker disease HPO
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.120 CausalMutation phenotype CLINVAR
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.110 Biomarker disease HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.110 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 CausalMutation disease CLINVAR
CUI: C0023222
Disease: Pain in lower limb
Pain in lower limb 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		0.100 CausalMutation phenotype CLINVAR
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0037926
Disease: Compression of spinal cord
Compression of spinal cord 		0.100 CausalMutation disease CLINVAR
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.100 Biomarker phenotype HPO
CUI: C0042571
Disease: Vertigo
Vertigo 		0.100 CausalMutation phenotype CLINVAR
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition 		0.100 Biomarker disease HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.100 CausalMutation phenotype CLINVAR
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		0.100 CausalMutation disease CLINVAR