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	HGNC	UniGene	Nucleotide	OMIM		UCSC

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FLASH GENE

Symbol

EPAS1

contributors: mct/npt/pgu - updated : 08-09-2018

HGNC name	endothelial PAS domain protein 1
HGNC id	3374

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ECYT4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in renal cell carcinoma

Susceptibility

to the endurance phenotype in elite endurance athletes to the development of retinopathy of prematurity (ROP)

Variant & Polymorphism SNP	influencing the relative contribution of aerobic and anaerobic metabolism and hence the maximum sustainable metabolic power for a given event duration
	association between SNPs in the EPAS1 gene and the development of ROP

Candidate gene
Marker
Therapy target	new and promising therapeutic target for cartilage repair
	System Type Disorder Pubmed osteoarticular     new and promising therapeutic target for cartilage repair

ANIMAL & CELL MODELS