Property:Has condition genetics

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Showing 12 pages using this property.
C
Charcot Marie Tooth Disease +
More than 80 different genes have been identified  +
E
Erythromelalgia +
Primary disease: SCN9A gain of function heterozygous pathogenic variant  +
F
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)  +
Familial Episodic Pain Syndrome +
FEPS type I - TRPA1, activating <br> FEPS type II - SCNA10A, activating<br> FEPS type III - SCN11A (Nav1.9), activating  +
L
Loeys-Dietz Syndrome +
Heterozygous pathogenic variant in SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, or TGFBR2  +
M
McArdle Disease +
Biallelic pathogenic variants in PYGM gene  +
Myotonia Congenita +
CLC1N pathogenic variant  +
Myotonic Dystrophy +
DMPK (DM1), CNBP/ZNF9 (DM2)  +
P
Paroxysmal Extreme Pain Disorder +
SCN9A gain of function mutation  +
Pompe Disease +
Biallelic pathogenic variant in the GAA gene  +
T
Tarui Disease +
Pathogenic variants in muscle isoform of PFK  +
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