Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
0.120 GeneticVariation phenotype BEFREE SIGMAR1 mutation should be included in the diagnostic panel of a dHMN, especially if there are co-existing pyramidal signs and autosomal recessive inheritance. 29115704 2018
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
0.120 GeneticVariation phenotype BEFREE We suggest that coding sequence mutations in SIGMAR1 present clinically with a combination of dHMN and pyramidal tract signs, with or without spasticity, in the lower limbs. 27629094 2016
Entrez Id: 10280
Gene Symbol: SIGMAR1
SIGMAR1
0.120 Biomarker phenotype HPO