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Date: Tue Jan 28 2025
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Gene
Gene Ontology
Disease
Allele/Variant
Model
HTP Dataset Index
Disease
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Disease Group
monogenic disease
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musculoskeletal system disease
1
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peripheral nervous system disease
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Genes
PMP22 (Hsa)
1
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Pmp22 (Mmu)
1
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Pmp22 (Rno)
1
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pmp22 (Xtr)
1
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pmp22.L (Xla)
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Associated Species
Danio rerio
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Homo sapiens
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Mus musculus
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Disease
Alleles: Tg(PMP22)C22Clh (Mmu)
Charcot-Marie-Tooth disease type 1A
Disease
Source:
DOID:0110148
Definition:
A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22).
Gene (8)
Allele/Variant (8)
Model (9)
Page 1 of 1
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