HOXA1, homeobox A1, 3198

N. diseases: 95; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 GeneticVariation disease BEFREE A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular malformations, some of which are lethal without surgical intervention. 21940751 2012
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 Biomarker disease MGD A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular malformations, some of which are lethal without surgical intervention. 21940751 2012
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 Biomarker disease MGD A recent study in humans revealed that mutations in a single Hox gene, HOXA1 (Athabascan Brainstem Dysgenesis Syndrome, Bosley-Salih-Alorainy Syndrome), can cause severe cardiovascular malformations, some of which are lethal without surgical intervention. 21940751 2012
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 GeneticVariation disease BEFREE These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum. 18412118 2008
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 GermlineCausalMutation disease ORPHANET These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum. 18412118 2008
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 GeneticVariation disease BEFREE These individuals blur the clinical distinctions between the BSAS and ABDS HOXA1 variants and broaden the phenotype and genotype of the homozygous HOXA1 mutation clinical spectrum. 18412118 2008
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 GermlineCausalMutation disease ORPHANET This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population. 17875913 2007
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 GeneticVariation disease BEFREE This report extends the Bosley-Salih-Alorainy syndrome phenotype and documents the clinical variability resulting from identical HOXA1 mutations within an isolated ethnic population. 17875913 2007
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 Biomarker disease GENOMICS_ENGLAND Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. 16155570 2005
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 Biomarker disease GENOMICS_ENGLAND Athabascan brainstem dysgenesis syndrome. 12833395 2003
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 Biomarker disease MGD Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. 10529420 1999
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 Biomarker disease MGD Mice mutant for both Hoxa1 and Hoxb1 show extensive remodeling of the hindbrain and defects in craniofacial development. 10529420 1999
CUI: C1832215
Disease: Athabaskan brainstem dysgenesis
Athabaskan brainstem dysgenesis 		0.920 CausalMutation disease CLINVAR
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 Biomarker disease GENOMICS_ENGLAND
CUI: C1832216
Disease: Bosley-Salih-Alorainy Syndrome
Bosley-Salih-Alorainy Syndrome 		0.920 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 GeneticVariation disease BEFREE The HOXA1 A218G polymorphism has been found to be associated with autism and larger head circumference in autistic patients. 19018953 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 GeneticVariation disease BEFREE We previously described a significant association between the HOXA1 G218 allele and increased head circumference in autism [Conciatori et al.(2004); Biol Psychiatry 55:413-419]. 17171652 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 GeneticVariation disease LHGDN Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. 16155570 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 Biomarker disease BEFREE We conclude that the HOXA1/B1 are unlikely to be the susceptibility genes for autism in our sample. 14681917 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 GeneticVariation disease BEFREE The G allele of the HOXA1 A218G polymorphism has been previously found associated with autism. 14960295 2004
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 GeneticVariation disease BEFREE More direct tests, comparing genotype frequencies between probands and controls and tracking transmission of the A versus G alleles to affected offspring, did not support the contention that allele status for the HOXA1 A218G polymorphism influences one's susceptibility to autism. 12908836 2003
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 GeneticVariation disease BEFREE Our interpretation of these findings is that it is unlikely that HoxA1 and HoxB1 play a significant role in the genetic predisposition to autism. 11840501 2002
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.390 GeneticVariation disease BEFREE Therefore, although we cannot exclude the possibility that the samples in the two studies are intrinsically different, our data from our sample argue against a major role for HOXA1 (His)73(Arg) in liability to autism. 12210285 2002