MYORG Chromosome 9
Myogenesis regulating glycosidase
Upload your DNA to see your personal genotypes for variants in MYORG.
What This Gene Does
Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Glycoside hydrolase family 31
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000164976
Associated Conditions (7)
Basal ganglia calcification
idiopathic
7
autosomal recessive
Inborn genetic diseases
Idiopathic basal ganglia calcification 1
MYORG-related disorder
Key Variants
RS1398218251
Conflicting classifications of pathogenicity
Basal ganglia calcification, idiopathic, 7
Health Risk
RS199770930
Conflicting classifications of pathogenicity
Basal ganglia calcification, idiopathic, 7
Health Risk
RS370677884
Conflicting classifications of pathogenicity
Basal ganglia calcification, idiopathic, 7
Health Risk
RS370944350
Conflicting classifications of pathogenicity
Basal ganglia calcification, idiopathic, 7
Health Risk
RS866335788
Conflicting classifications of pathogenicity
Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
Health Risk
RS1237086797
Likely pathogenic
Basal ganglia calcification, idiopathic, 7
Health Risk
RS1245480392
Likely pathogenic
Health Risk
RS1273216154
Likely pathogenic
Basal ganglia calcification, idiopathic, 7
Health Risk
RS1563981743
Likely pathogenic
Basal ganglia calcification, idiopathic, 7
Health Risk
RS1563982489
Likely pathogenic
Basal ganglia calcification, idiopathic, 7
Health Risk
RS1588003652
Likely pathogenic
Basal ganglia calcification, idiopathic, 7
Health Risk
RS2491649495
Likely pathogenic
MYORG-related disorder, MYORG-related disorder
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1398218251 | Health Risk | Conflicting classifications of pathogenicity | Basal ganglia calcification, idiopathic, 7 |
| RS199770930 | Health Risk | Conflicting classifications of pathogenicity | Basal ganglia calcification, idiopathic, 7 |
| RS370677884 | Health Risk | Conflicting classifications of pathogenicity | Basal ganglia calcification, idiopathic, 7 |
| RS370944350 | Health Risk | Conflicting classifications of pathogenicity | Basal ganglia calcification, idiopathic, 7 |
| RS866335788 | Health Risk | Conflicting classifications of pathogenicity | Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1 |
| RS1237086797 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS1245480392 | Health Risk | Likely pathogenic | — |
| RS1273216154 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS1563981743 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS1563982489 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS1588003652 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS2491649495 | Health Risk | Likely pathogenic | MYORG-related disorder, MYORG-related disorder |
| RS2491649501 | Health Risk | Likely pathogenic | MYORG-related disorder, MYORG-related disorder |
| RS2491656326 | Health Risk | Likely pathogenic | — |
| RS749427106 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS765483979 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS765728562 | Health Risk | Likely pathogenic | — |
| RS772374648 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS774110241 | Health Risk | Likely pathogenic | — |
| RS779317146 | Health Risk | Likely pathogenic | MYORG-related disorder, MYORG-related disorder |
| RS868530644 | Health Risk | Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS1563981857 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS2491659371 | Health Risk | Pathogenic | — |
| RS754312036 | Health Risk | Pathogenic | — |
| RS759874504 | Health Risk | Pathogenic | — |
| RS760451348 | Health Risk | Pathogenic | Basal ganglia calcification, idiopathic, 7 |
| RS775762093 | Health Risk | Pathogenic/Likely pathogenic | Basal ganglia calcification, idiopathic, 7 |