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Details of GARS gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GARS | --- | P41250 | SYG_HUMAN | 2617 | Q969Y1 | 2PME 2PMF 2Q5H 2Q5I 2ZT5 2ZT6 2ZT7 2ZT8 2ZXF 2PME 2PMF 2Q5H 2Q5I 2ZT5 2ZT6 2ZT7 2ZT8 2ZXF | in contrast to othe | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]: A dominant axonal form of Charcot-Marie-Tooth disease | characterized by progressive weakness and atrophy | Neuronopathy | 5A (HMN5A) [MIM:600794]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities | ||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormality of central motor function, Abnormality of limb bone morphology, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the curvature of the vertebral column, Abnormality of the digits, Abnormality of the foot, Abnormality of the hand, Abnormality of the lower limb, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the musculature of the hand, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormality of the vertebral column, Abnormality of toe, All, Amyotrophy, Autosomal dominant inheritance, Cold-induced hand cramps, Cold-induced muscle cramps, Distal amyotrophy, Distal muscle weakness, Distal sensory impairment, Distal upper limb amyotrophy, First dorsal interossei muscle atrophy, First dorsal interossei muscle weakness, Hammertoe, Hand muscle atrophy, Hyperreflexia, Hyporeflexia, Interosseus muscle atrophy, Limb muscle weakness, Mode of inheritance, Muscle cramps, Muscle weakness, Onset and clinical course, Pace of progression, Peripheral neuropathy, Pes cavus, Pes planus, Phenotypic abnormality, Reduced tendon reflexes, Scoliosis, Sensory impairment, Slow progression, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||