HOXA2, homeobox A2, 3199

N. diseases: 26; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. 27503514 2017
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology. 27503514 2017
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 GeneticVariation disease UNIPROT HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. 23775976 2013
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 GeneticVariation disease UNIPROT A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. 18394579 2008
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 GermlineCausalMutation disease ORPHANET A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. 18394579 2008
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 Biomarker disease GENOMICS_ENGLAND Role of Hoxa-2 in axon pathfinding and rostral hindbrain patterning. 9367425 1997
CUI: C2676772
Disease: Microtia, Hearing Impairment, And Cleft Palate
Microtia, Hearing Impairment, And Cleft Palate 		0.700 CausalMutation disease CLINVAR
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.410 Biomarker disease GENOMICS_ENGLAND HOXA2 biallelic mutations were also described in an inbreed family with autosomal recessive microtia, hearing impairment and incomplete cleft palate. 27503514 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.410 GeneticVariation disease BEFREE HOXA2 biallelic mutations were also described in an inbreed family with autosomal recessive microtia, hearing impairment and incomplete cleft palate. 27503514 2017
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.410 Biomarker disease HPO
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.300 Biomarker disease CTD_human Quantitative expression of the homeobox and integrin genes in human gastric carcinoma. 17786296 2007
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human Quantitative expression of the homeobox and integrin genes in human gastric carcinoma. 17786296 2007
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human Quantitative expression of the homeobox and integrin genes in human gastric carcinoma. 17786296 2007
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		0.100 Biomarker disease HPO
CUI: C0155552
Disease: Hearing Loss, Mixed Conductive-Sensorineural
Hearing Loss, Mixed Conductive-Sensorineural 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		0.100 Biomarker disease HPO