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From WikiMSK
This page provides a simple browsing interface for finding entities described by a property and a named value. Other available search interfaces include the page property search, and the ask query builder.
List of results
- Myotonic Dystrophy + (DMPK (DM1), CNBP/ZNF9 (DM2))
- Familial Episodic Pain Syndrome + (FEPS type I - TRPA1, activating <br> FEPS type II - SCNA10A, activating<br> FEPS type III - SCN11A (Nav1.9), activating)
- Fabry Disease + (GLA pathogenic variant)
- Facioscapulohumeral Dystrophy + (Heterozygous pathogenic contraction of D4Z4 repeat array in chromosome 4q35 (FSHD 1), hypomethylation of D4Z4 repeat array (FSHD 2))
- Loeys-Dietz Syndrome + (Heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2)
- Charcot Marie Tooth Disease + (More than 80 different genes have been identified)
- Tarui Disease + (Pathogenic variants in muscle isoform of PFK)
- Erythromelalgia + (Primary disease: SCN9A gain of function heterozygous pathogenic variant)
- Paroxysmal Extreme Pain Disorder + (SCN9A gain of function mutation)