ATL1, atlastin GTPase 1, 51062

N. diseases: 112; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Spastic paraplegia 3, autosomal dominant
0.750 Biomarker disease CTD_human
NEUROPATHY, HEREDITARY SENSORY, TYPE ID
0.700 Biomarker disease CTD_human
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 Biomarker disease HPO
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.140 CausalMutation disease CLINVAR
CUI: C0030486
Disease: Paraplegia
Paraplegia
0.120 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0020453
Disease: Hyperesthesia
Hyperesthesia
0.100 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
0.100 Biomarker phenotype HPO
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis
0.100 Biomarker disease HPO
CUI: C0030554
Disease: Paresthesia
Paresthesia
0.100 Biomarker phenotype 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: C0039273
Disease: Talipes cavus
Talipes cavus
0.100 Biomarker disease HPO
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence
0.100 Biomarker phenotype HPO
CUI: C0085606
Disease: Urgency of micturition
Urgency of micturition
0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
0.100 Biomarker disease HPO
CUI: C0231687
Disease: Spastic gait
Spastic gait
0.100 Biomarker phenotype HPO
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
0.100 Biomarker phenotype HPO
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
0.100 Biomarker phenotype HPO
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait
0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay
0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
0.100 Biomarker disease HPO
CUI: C0850703
Disease: Frequent falls
Frequent falls
0.100 Biomarker phenotype HPO
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
0.100 Biomarker disease HPO