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Details of PGM1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| PGM1 | --- | P36871 | PGM1_HUMAN | 5236
| Q16105
| Q16106 | Q96J40 |
Phenotypes
Abnormality of circulating enzyme level, Abnormality of circulating protein level, Abnormality of metabolism/homeostasis, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of the genitourinary system, Abnormality of the hip-girdle musculature, Abnormality of the musculature, Abnormality of the musculature of the pelvis, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, All, Autosomal recessive inheritance, Elevated serum creatine phosphokinase, Exercise intolerance, Functional motor problems., Limb-girdle muscle weakness, Mode of inheritance, Muscle cramps, Muscle weakness, Myoglobinuria, Pelvic girdle muscle weakness, Phenotypic abnormality, Rhabdomyolysis.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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