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FLASH GENE

Symbol

CELSR1

contributors: mct/pgu - updated : 17-09-2010

HGNC name	cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)
HGNC id	1850

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in the 22qter-syndrome

Susceptibility

to ischemic stroke to craniorachischisis (CRN)

Variant & Polymorphism SNP , other	rs6007897 (A-->G, Thr2268Ala) and rs4044210 (A-->G, Ile2107Val)rs6007897 (A-->G, Thr2268Ala) and rs4044210 (A-->G, Ile2107Val) were significantly associated with ischemic stroke
	missense variants in CELSR1 may represent a cause of CRN

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS