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Details of OAT gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| OAT | --- | P04181 | OAT_HUMAN | 4942 | Q16069 | Q68CS0 | ENSG00000065154 |
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of refraction, Abnormality of the anterior segment of the eye, Abnormality of the eye, Abnormality of the lens, Abnormality of the musculature, Abnormality of vision, All, Autosomal recessive inheritance, Blindness, Cataract, EMG abnormality, Mode of inheritance, Muscle weakness, Myopia, Night blindness, Phenotypic abnormality, Polar cataract, Posterior subcapsular cataract, Proximal muscle weakness, Subcapsular cataract, Visual impairment.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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