PhenoModifier-Gene Detail

Gene "ANXA6"

Found 1 record

Gene information

Gene symbol:

ANXA6

See related:

Ensembl: ENSG00000197043, Gene ID: 309

Additive variants :

Undetected

Genetic interaction partners

No data

Modifier statisitcs

Record:

1

Disorder:

1

Vriant:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Modify the abdominal muscles(1)

Detail：

Variant 1:

ANXA6:variant

Gene:

ANXA6

Genomic location:

dbSNP ID:

Target disease:

Duchenne Muscular Dystrophy(DOID_11723)

Effect type:

Expressivity

Modifier effect:

Modify the abdominal muscles

Evidence:

From review article

Effect:

ANXA6 has been identified as a modifier of MD

Reference:

PMID26263473

Title:

Modifier genes and their effect on Duchenne muscular dystrophy.

Species studied:

Human

Abstract:

Recently, genetic pathways that modify the clinical severity of Duchenne muscular dystrophy (DMD) have been identified. The pathways uncovered as modifiers are useful to predict prognosis and also elucidate molecular signatures that can be manipulated therapeutically.