ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894193
rs104894193
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894196
rs104894196
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs281865153
rs281865153
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C3809819
Disease:
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs281865154
rs281865154
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C3809819
Disease:
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO 		C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs104894191
rs104894191
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894192
rs104894192
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs104894193
rs104894193
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1868598
Disease:
PARIETAL FORAMINA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894197
rs104894197
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ALX4 dysfunction disrupts craniofacial and epidermal development. 19692347 2009
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991 2001
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 22829454 2012
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991 2001
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR ALX4 dysfunction disrupts craniofacial and epidermal development. 19692347 2009
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0000772
Disease:
Multiple congenital anomalies 		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
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C3150703
Disease:
FRONTONASAL DYSPLASIA 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0432072
Disease:
Dysmorphic features 		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
dbSNP: rs267606653
rs267606653
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 22829454 2012
dbSNP: rs387906325
rs387906325
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776614
rs587776614
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777700
rs587777700
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587777701
rs587777701
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C3150703
Disease:
FRONTONASAL DYSPLASIA 2 		C 0.700 CausalMutation CLINVAR