GAN, gigaxonin, 8139

N. diseases: 71; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850386
Disease: GIANT AXONAL NEUROPATHY 1
GIANT AXONAL NEUROPATHY 1 		0.900 Biomarker disease CTD_human
CUI: C0000921
Disease: Accidental Falls
Accidental Falls 		0.100 Biomarker phenotype HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 GeneticVariation disease CLINVAR
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0032002
Disease: Pituitary Diseases
Pituitary Diseases 		0.100 Biomarker group HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 GeneticVariation disease CLINVAR
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
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: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0343073
Disease: Wooly hair
Wooly hair 		0.100 Biomarker phenotype HPO