Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CRELD1

contributors: mct - updated : 17-11-2012

HGNC name	cysteine-rich with EGF-like domains 1
HGNC id	14630

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AVSD2 , DEL3PD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in ASD, VSD

Susceptibility

to atrioventricular septal defects

Variant & Polymorphism other	rs9878047 (c.1049-129T&
	8201;>&
	8201;C), rs3774207 (c.1119C&
	8201;>&
	8201;T), and rs73118372 (c.1136T&
	8201;>&
	8201;C) predispose Down syndrome and euploids individuals to atrioventricular septal defect

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS