NUP62, nucleoporin 62, 23636

N. diseases: 273; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		0.710 CausalMutation disease CLINVAR
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		0.710 Biomarker disease CTD_human
CUI: C0795996
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
STRIATONIGRAL DEGENERATION, INFANTILE (disorder) 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.100 Biomarker disease HPO
CUI: C0151564
Disease: Cogwheel Rigidity
Cogwheel Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0.100 Biomarker phenotype HPO
CUI: C0271388
Disease: Pendular Nystagmus
Pendular Nystagmus 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		0.100 Biomarker disease HPO
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0850703
Disease: Frequent falls
Frequent falls 		0.100 Biomarker phenotype HPO
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		0.100 Biomarker phenotype HPO
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		0.100 Biomarker phenotype HPO