PhenoModifier-Disease Detail

Disorder "Emery-Dreifuss muscular dystrophy"

Found 5 records

Disorder information

Disorder name:

Emery-Dreifuss muscular dystrophy

Disoder ID:

DOID_11726

OMIM entry:

OMIM:PS310300

Synonyms:

EDMD

Definition:

A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

Modifier statisitcs

Record:

5

Gene:

2

Variant:

5

Reference:

2

Effect type:

Expressivity(5)

Modifier effect:

Risk factor(3) ,Altered severity(2)

Modifier gene	Variant	Effect type	Modifier effect	Evidence	Effect	PubMed ID
SUN2	SUN2:rs137966643	Expressivity	Risk factor	Assessment of genotype–phenotype associations and gene activity study	SUN1 and SUN2 can act as disease modifier genes in individuals with co-segregating mutations in other EDMD genes.more	25210889 more
SUN2	SUN2:rs139004902	Expressivity	Risk factor	Assessment of genotype–phenotype associations and gene activity study	SUN1 and SUN2 can act as disease modifier genes in individuals with co-segregating mutations in other EDMD genes.more	25210889 more
SUN1	SUN1:rs114701323	Expressivity	Altered severity	Gene activity study	SUN1 of both patient fibroblasts exhibited reduced interaction with Lamin A/C and the SUN1 mutant proteins exhibited reduced interactions with Emerinmore	24375709 more
	SUN1:rs144929525	Expressivity	Altered severity	Gene activity study	SUN1 of both patient fibroblasts exhibited reduced interaction with Lamin A/C and the SUN1 mutant proteins exhibited reduced interactions with Emerinmore	24375709 more
	SUN1:rs149038179	Expressivity	Risk factor	Assessment of genotype–phenotype associations and gene activity study	SUN1 and SUN2 can act as disease modifier genes in individuals with co-segregating mutations in other EDMD genes.more	25210889 more

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