HOXA2, homeobox A2, 3199

N. diseases: 26; N. variants: 3
Disease: Microtia, Hearing Impairment, And Cleft Palate ×
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