Retinitis Pigmentosa 2 (RP2)

Retinitis Pigmentosa 2(来自ICD-11)
别称:
Rp2
X-Linked Retinitis Pigmentosa 2
Retinitis Pigmentosa, Type 2
Retinitis Pigmentosa-2
Xlrp-2
Xlrp2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 2, also known as rp2, is related to night blindness and retinitis pigmentosa 13. An important gene associated with Retinitis Pigmentosa 2 is RP2 (RP2 Activator Of ARL3 GTPase), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding. Affiliated tissues include retina and eye, and related phenotypes are myopia and fundus atrophy
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基础信息

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参考文献
MALACARDS
XLD
XL
XLR
Unknown
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29
172
57

疾病表征

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靶点药物

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MGI
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