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pachyonychia congenita
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Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
KRT6A
KRT6B
KRT16
KRT17
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
MODULE_298
MODULE_68
MODULE_153
Intermediate filament protein, conserved site
Intermediate filament protein
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Ectodermal dysplasia
OMIM - Congenital disorder
OMIM - Pachyonychia congenita
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Literature
Most Relevant Literature
Walking a day in a pachyonychia congenita patient's shoes: Impact on plantar pain and activity level…
Phenotype and genotype features of Vietnamese children with pachyonychia congenita.
Successful treatment of pachyonychia congenita with simvastatin.
EGFR Signaling Is Overactive in Pachyonychia Congenita: Effective Treatment with Oral Erlotinib.
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies.
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Clinical Trials
Most Relevant Clinical Trials
International Pachyonychia Congenita Research Registry
Simvastatin Treatment of Pachyonychia Congenita
Phase 2/3 Study Evaluating the Safety and Efficacy of PTX-022 in Treatment of Adults With Pachyonych…
Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita
A Multicenter, Phase 3 Randomized, Double-Blind, Vehicle-Controlled Study Evaluating the Safety and …
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