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FLASH GENE

Symbol

EDN1

contributors: mct/npt/pgu - updated : 18-06-2015

HGNC name	endothelin 1
HGNC id	3176

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ACDS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in clear cell renal tumor patients and hypertension tumoral     --low   in papillary renal tumor constitutional   deletion     ectodermal deletion of EDN1 results in craniofacial defects with concomitant changes in the expression of early mandibular arch patterning genes ( constitutional     --over   higher expressed in Alzheimer disease than in control tissue

Susceptibility

to coronary heart disease to developing cardiac hypertrophy

Variant & Polymorphism SNP , other	decreasing HDL level and increasing coronary heart disease
	homozygosity for the -1224A/198K haplotype, is associated with the risk of developing cardiac hypertrophy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS