ALX1, ALX homeobox 1, 8092

N. diseases: 59; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150706
Disease: FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA 3 		0.600 Biomarker disease GENOMICS_ENGLAND Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. 26610632 2016
CUI: C3150706
Disease: FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA 3 		0.600 Biomarker disease GENOMICS_ENGLAND Defective neural crest migration revealed by a Zebrafish model of Alx1-related frontonasal dysplasia. 23059813 2013
CUI: C3150706
Disease: FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA 3 		0.600 Biomarker disease GENOMICS_ENGLAND Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 20451171 2010
CUI: C3150706
Disease: FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA 3 		0.600 GermlineCausalMutation disease ORPHANET Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 20451171 2010
CUI: C3150706
Disease: FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA 3 		0.600 Biomarker disease GENOMICS_ENGLAND Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. 20451171 2010
CUI: C3150706
Disease: FRONTONASAL DYSPLASIA 3
FRONTONASAL DYSPLASIA 3 		0.600 CausalMutation disease CLINVAR
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
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Physical and genetic interactions between Alx4 and Cart1. 9847249 1999
CUI: C4751077
Disease: Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C4751077
Disease: Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker 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: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0033377
Disease: Ptosis
Ptosis 		0.100 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO