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FLASH GENE

Symbol

COL5A1

contributors: mct - updated : 09-11-2018

HGNC name	collagen, type V, alpha 1
HGNC id	2209

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EDS1A , EDS2

Susceptibility

to central corneal thickness to chronic Achilles tendinopathy

Variant & Polymorphism other	variant in collagen-related genes (COL5A1 at locus 9q34) influencing central corneal thickness (CCT)
	individuals with an A2 allele of this gene are less likely of developing symptoms of chronic Achilles tendinopathy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS