rs61755320, SPG7

N. diseases: 41
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
0.700 CausalMutation CLINVAR
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
0.700 CausalMutation CLINVAR
Ankle clonus
CUI: C0238651
Disease: Ankle clonus
0.700 CausalMutation CLINVAR
Ataxia
CUI: C0004134
Disease: Ataxia
0.720 GeneticVariation BEFREE Patients with at least 1 Ala510Val variant (58%) were older (age 37.6 ± 13.7 vs 32.8 ± 14.6 years, <i>p</i> < 0.05) and showed ataxia at onset (<i>p</i> < 0.05). 31068484 2019
Ataxia
CUI: C0004134
Disease: Ataxia
0.720 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
Ataxia
CUI: C0004134
Disease: Ataxia
0.720 GeneticVariation BEFREE The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. 30098094 2019
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
CUI: C3151619
Disease: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
0.700 CausalMutation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.020 GeneticVariation BEFREE This is the largest <i>SPG7</i> cohort study to date and shows a spasticity-predominant phenotype of LOF variants and more frequent cerebellar ataxia and later onset in patients carrying at least 1 Ala510Val variant. 31068484 2019
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.020 GeneticVariation BEFREE The SPG7 c.1529C>T (p.Ala510Val) mutants accounted for 2.3% of cerebellar ataxia cases in Italy, suggesting that this variant should be considered as a priority test in the presence of late-onset pure ataxia. 30098094 2019
Cerebellar ataxia associated with quadrupedal gait
CUI: C4024175
Disease: Cerebellar ataxia associated with quadrupedal gait
0.700 CausalMutation CLINVAR
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
0.700 CausalMutation CLINVAR
Compression of spinal cord
CUI: C0037926
Disease: Compression of spinal cord
0.700 CausalMutation CLINVAR
Diffuse cerebellar atrophy
CUI: C1854699
Disease: Diffuse cerebellar atrophy
0.700 CausalMutation CLINVAR
Dysarthria
CUI: C0013362
Disease: Dysarthria
0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
Dysdiadochokinesis
CUI: C0234979
Disease: Dysdiadochokinesis
0.700 CausalMutation CLINVAR
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
0.700 CausalMutation CLINVAR
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
0.700 CausalMutation CLINVAR
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
0.700 CausalMutation CLINVAR
Gross motor impairment
CUI: C0556280
Disease: Gross motor impairment
0.700 CausalMutation CLINVAR
Hand muscle weakness
CUI: C0239831
Disease: Hand muscle weakness
0.700 CausalMutation CLINVAR
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
0.020 GeneticVariation BEFREE However, the p.Ala510Val missense substitution previously described as a polymorphism was shown to be significantly associated with HSP, suggesting that it had a functional effect. 16534102 2006
Henoch-Schoenlein Purpura
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
0.020 GeneticVariation BEFREE We present additional data from the Auckland City Hospital neurogenetics clinic to show that the p.Ala510Val mutation is prevalent amongst HSP patients of UK extraction belying any suggestion that European p.Ala510Val haplotypes harbour a disease-causing mutation which the UK p.Ala510Val haplotypes do not. 23269439 2013
Herniation of intervertebral nuclei
CUI: C1832597
Disease: Herniation of intervertebral nuclei
0.700 CausalMutation CLINVAR
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
0.700 CausalMutation CLINVAR
Increased muscle fatiguability
CUI: C4025573
Disease: Increased muscle fatiguability
0.700 CausalMutation CLINVAR