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
0.800 GeneticVariation UNIPROT Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991 2001
dbSNP: rs104894196
rs104894196
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2
0.800 GeneticVariation UNIPROT Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991 2001
dbSNP: rs104894193
rs104894193
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2
0.800 GeneticVariation UNIPROT The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354 2000
dbSNP: rs104894196
rs104894196
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1865044
Disease:
PARIETAL FORAMINA 2
0.800 GeneticVariation UNIPROT The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354 2000
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: rs281865153
rs281865153
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C3809819
Disease:
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
0.800 GeneticVariation UNIPROT
dbSNP: rs281865154
rs281865154
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C3809819
Disease:
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
C 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs281865154
rs281865154
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C3809819
Disease:
CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
0.800 GeneticVariation UNIPROT
dbSNP: rs10769025
rs10769025
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C1269683
Disease:
Major Depressive Disorder
0.700 GeneticVariation GWASCAT Association of Novel ALX4 Gene Polymorphisms with Antidepressant Treatment Response: Findings from the CO-MED Trial. 29998114 2018
dbSNP: rs10742700
rs10742700
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2013594
rs2013594
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2013594
rs2013594
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs10769025
rs10769025
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0018099
Disease:
Gout
0.700 GeneticVariation GWASCAT Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. 22179738 2012
dbSNP: rs10769025
rs10769025
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
CUI: C0003868
Disease:
Arthritis, Gouty
0.700 GeneticVariation GWASCAT Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences. 22179738 2012
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 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. 22829454 2012
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 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 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: 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: 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