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FLASH GENE

Symbol

EDAR

contributors: mct/npt - updated : 02-02-2022

HGNC name	ectodysplasin A receptor
HGNC id	2895

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ED3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in (ER) negative breast carcinomas which display squamous differentiation

Susceptibility

to high ear thickness in Asian people to tooth shoveling

Variant & Polymorphism other	association between the 1540T/C polymorphism of EDAR and hair thickness
	T1540C polymorphism (rs3827760) strongly associated with tooth shoveling in East Asian populations (Kimura 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

murine downless (dl) phenotypically to Tabby and crinked