Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary spastic paralysis, infantile onset ascending
0.800 GeneticVariation disease CLINVAR
Hereditary spastic paralysis, infantile onset ascending
0.800 Biomarker disease CTD_human
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile
0.760 CausalMutation disease CLINVAR
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile
0.760 Biomarker disease CTD_human
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 Biomarker disease CTD_human
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
0.700 CausalMutation disease CLINVAR
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.200 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.130 Biomarker phenotype HPO
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.110 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker group HPO
CUI: C0013132
Disease: Drooling
Drooling
0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0030232
Disease: Pallor
Pallor
0.100 Biomarker phenotype HPO
CUI: C0034372
Disease: Quadriplegia
Quadriplegia
0.100 Biomarker disease HPO
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: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.100 CausalMutation disease CLINVAR
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.100 Biomarker disease HPO
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: C0149632
Disease: Abnormality of the bladder
Abnormality of the bladder
0.100 Biomarker phenotype HPO
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C0231687
Disease: Spastic gait
Spastic gait
0.100 Biomarker phenotype HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
0.100 Biomarker phenotype HPO