HOXA2, homeobox A2, 3199

N. diseases: 26; N. variants: 3
Disease: Congenital small ears ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.450 GeneticVariation disease BEFREE Further study is needed to prove the function of 2 novel variants in the 5'UTR of HOXA2, and to explore the possible mechanism of these variants in the occurrence of microtia. 28109504 2017
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.450 GeneticVariation disease BEFREE This study confirms the role of HOXA2 gene in dominant isolated microtia and contribute to further define the dysmorphogenetic effect of this gene on ear development. 27503514 2017
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.450 GeneticVariation disease BEFREE Our data extend these conclusions and define HOXA2 haploinsufficiency as the first genetic cause for autosomal-dominant nonsyndromic microtia. 23775976 2013
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.450 GermlineCausalMutation disease ORPHANET HOXA2 has been shown to be critical for outer and middle ear development through mouse models and has previously been associated with autosomal recessive bilateral microtia. 23775976 2013
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.450 GeneticVariation disease BEFREE Mutations in the homeobox gene HOXA2 caused microtia in a single Iranian family. 20542577 2010
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.450 GeneticVariation disease BEFREE A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. 18394579 2008
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.450 Biomarker disease HPO