ALX1, ALX homeobox 1, 8092

N. diseases: 59; N. variants: 1
Disease: Frontonasal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.530 Biomarker disease GENOMICS_ENGLAND Our study concludes that the splice site variant identified in the ALX1 gene causes mild form of FND. 27324866 2017
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.530 GeneticVariation disease BEFREE Our study concludes that the splice site variant identified in the ALX1 gene causes mild form of FND. 27324866 2017
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.530 Biomarker disease BEFREE Only a small number of genes have been associated with FND phenotypes until now, the first gene being EFNB1, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless-like homeobox genes ALX3, ALX4, and ALX1, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. 24376213 2014
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.530 GeneticVariation disease BEFREE Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 20451171 2010
CUI: C1876203
Disease: Frontonasal dysplasia
Frontonasal dysplasia 		0.530 Biomarker disease CTD_human