rs369227537, SPG7

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
0.700 CausalMutation CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR A founder mutation p.H701P identified as a major cause of SPG7 in Norway. 26756429 2016
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. 24727571 2014
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 22964162 2012