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 |
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 |
Midline facial cleft - Tessier cleft 0
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia.
|
27324866 |
2017 |
Midline facial cleft - Tessier cleft 0
|
0.020 |
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 |
Acrania
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here, we show that Cart1-homozygous mutant mice are born alive with acrania and meroanencephaly but die soon after birth-a phenotype that strikingly resembles a corresponding human syndrome caused by a neural tube closure defect.
|
8673125 |
1996 |
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 |
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 |
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 |
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 |
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 |
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 |
Frontonasal dysplasia
|
0.530 |
Biomarker
|
disease |
CTD_human |
|
|
|
Craniofacial Abnormalities
|
0.300 |
Biomarker
|
group |
CTD_human |
Physical and genetic interactions between Alx4 and Cart1.
|
9847249 |
1999 |
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Microphthalmos
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Blepharoptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cleft Palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Conductive hearing loss
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Orbital separation excessive
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Ptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Tetralogy of Fallot
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Cataract
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Agenesis of corpus callosum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|