ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 GeneticVariation disease BEFREE Some of the clinical features are thought to be associated with haploinsufficiency of two genes in the 11p11.2 region; variants affecting the function of ALX4 cause enlarged parietal foramina and EXT2 lead to multiple exostoses. 30487643 2019
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 Biomarker disease MGD A novel allele of Alx4 results in reduced Fgf10 expression and failure of eyelid fusion in mice. 25673119 2015
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 GeneticVariation disease BEFREE Being proximal to EXT2 and ALX4, a 1.1 Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. 26333423 2015
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 GeneticVariation disease BEFREE This is the second report of a family showing vertical transmission of a dominant ALX4 mutation with facial involvement in addition to parietal foramina, mimicking mild recessive ALX4 phenotype. 24764194 2014
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 GeneticVariation disease BEFREE In contrast, heterozygous loss-of-function mutations in ALX4 had been only associated with isolated symmetrical parietal ossification defects at the intersection of the sagittal and lambdoid sutures, known as enlarged parietal foramina. 23401352 2013
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 GermlineCausalMutation disease ORPHANET We conclude that PFM caused by mutations in ALX4 and MSX2 have a similar prevalence and are usually clinically indistinguishable. 16319823 2006
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 GeneticVariation disease BEFREE Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. 15569759 2005
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 Biomarker disease BEFREE The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. 15852040 2005
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 AlteredExpression disease BEFREE Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS. 11137991 2001
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 GeneticVariation disease BEFREE Mutation analysis of the ALX4 gene in three unrelated FPP families without the MSX2 mutation identified mutations in two families, indicating that mutations in ALX4 could be responsible for these skull defects and suggesting further genetic heterogeneity of FPP. 11106354 2000
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 Biomarker disease BEFREE The involvement of Alx4 in murine skull development, its bone-specific expression pattern, the fact that Alx4 is a dosage-sensitive gene in mice, and the localization of a human genomic clone containing ALX4 to 11p11.2, with hemizygosity in patients with deletion of 11p11.2 who have biparietal foramina, support the contention that ALX4 is a candidate gene for the PFM in the 11p11.2-deletion syndrome. 11017806 2000
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 Biomarker disease HPO
CUI: C1868598
Disease: PARIETAL FORAMINA
PARIETAL FORAMINA 		0.890 CausalMutation disease CLINVAR
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 GeneticVariation disease UNIPROT Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 11137991 2001
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 GeneticVariation disease UNIPROT The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). 11106354 2000
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 Biomarker disease CTD_human
CUI: C1865044
Disease: PARIETAL FORAMINA 2
PARIETAL FORAMINA 2 		0.700 CausalMutation disease CLINVAR
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 Biomarker disease GENOMICS_ENGLAND A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. 29215649 2018
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 GermlineCausalMutation disease ORPHANET Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. 23401352 2013
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.600 CausalMutation disease CLINVAR