Gene: ALX4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606653
rs267606653
ALX4
A 0.700 CausalMutation CLINVAR ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 22829454

2012
dbSNP: rs267606653
rs267606653
ALX4
A 0.700 CausalMutation CLINVAR ALX4 dysfunction disrupts craniofacial and epidermal development. 19692347

2009
dbSNP: rs267606653
rs267606653
ALX4
A 0.700 CausalMutation CLINVAR Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. 16319823

2006
dbSNP: rs267606653
rs267606653
ALX4
A 0.700 CausalMutation CLINVAR Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991

2001
dbSNP: rs267606653
rs267606653
ALX4
A 0.700 CausalMutation CLINVAR Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. 11017806

2000
dbSNP: rs267606653
rs267606653
ALX4
A 0.700 CausalMutation CLINVAR The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354

2000