HMX1, H6 family homeobox 1, 3166

N. diseases: 23; N. variants: 1
Disease: Oculoauricular Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation. 29140751 2018
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 GeneticVariation disease BEFREE Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation. 29140751 2018
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 GermlineCausalMutation disease ORPHANET Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy. 25574057 2015
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease MGD Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. 19379485 2009
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. 19379485 2009
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. 18423520 2008
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 GermlineCausalMutation disease ORPHANET Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. 18423520 2008
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. 18423520 2008
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease MGD Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations. 16024820 2005
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease GENOMICS_ENGLAND Assignment of the murine Hmx1 homeobox gene to the proximal region of mouse chromosome 5. 9337406 1997
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 CausalMutation disease CLINVAR
CUI: C2677500
Disease: Oculoauricular Syndrome
Oculoauricular Syndrome 		0.910 Biomarker disease CTD_human