Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 22829454

2012
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR ALX4 dysfunction disrupts craniofacial and epidermal development. 19692347

2009
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype. 16319823

2006
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991

2001
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. 11017806

2000
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354

2000