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Details of RAB7A gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| RAB7A | RAB7 | P51149 | RAB7A_HUMAN | 7879 | Q9UPB0 | 1T91 1YHN 3LAW 1T91 1YHN 3LAW | a disorder of the p | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882]: A dominant axonal form of Charcot-Marie-Tooth disease | characterized by progressive weakness and atrophy | ||||||||
Phenotypes
"Osteomyelitis or necrosis, Abnormal appendicular skeleton morphology, Abnormal peripheral myelination, Abnormality of limb bone morphology, Abnormality of movement, Abnormality of muscle morphology, Abnormality of skeletal morphology, Abnormality of skeletal physiology, Abnormality of skin adnexa, Abnormality of the digits, Abnormality of the foot, Abnormality of the foot musculature, Abnormality of the integument, Abnormality of the lower limb, Abnormality of the musculature, Abnormality of the musculature of the limbs, Abnormality of the musculature of the lower limbs, Abnormality of the nail, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of toe, All, Amyotrophy, Areflexia, Autoamputation, Autoamputation (feet), Autosomal dominant inheritance, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Distal sensory impairment, Dystrophic toenails, Gait disturbance, Hammertoe, Hyporeflexia, Mode of inheritance, Nail dystrophy, Onion bulb formation, Onset, Onset and clinical course, Osteomyelitis, Peripheral axonal atrophy, Peripheral axonal degeneration, Peripheral neuropathy, Pes cavus, Pes planus, Phenotypic abnormality, Reduced tendon reflexes, Sensory impairment, Sensory neuropathy, Steppage gait.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||