HOXA13, homeobox A13, 3209

N. diseases: 126; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1867801
Disease: Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial deficiency, postaxial polydactyly and hypospadias 		0.620 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C1867801
Disease: Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial deficiency, postaxial polydactyly and hypospadias 		0.620 GeneticVariation disease BEFREE Heterozygous HOXA13 mutations have been previously reported in hand-foot-genital syndrome and Guttmacher syndrome, which are variably associated with small nails, short distal and middle phalanges, short thumbs and halluces, but not absent nails. 24934387 2014
CUI: C1867801
Disease: Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial deficiency, postaxial polydactyly and hypospadias 		0.620 GeneticVariation disease UNIPROT We have therefore re-investigated the original Guttmacher syndrome family, and have found that affected individuals are heterozygous for a novel missense mutation in the HOXA13 homeobox (c.1112A>T; homeodomain residue Q50L), which arose on an allele already carrying a novel 2-bp deletion (-78-79delGC) in the gene's highly conserved promoter region. 11968094 2002
CUI: C1867801
Disease: Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial deficiency, postaxial polydactyly and hypospadias 		0.620 GeneticVariation disease BEFREE A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. 11968094 2002
CUI: C1867801
Disease: Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial deficiency, postaxial polydactyly and hypospadias 		0.620 GermlineCausalMutation disease ORPHANET We have therefore re-investigated the original Guttmacher syndrome family, and have found that affected individuals are heterozygous for a novel missense mutation in the HOXA13 homeobox (c.1112A>T; homeodomain residue Q50L), which arose on an allele already carrying a novel 2-bp deletion (-78-79delGC) in the gene's highly conserved promoter region. 11968094 2002
CUI: C1867801
Disease: Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial deficiency, postaxial polydactyly and hypospadias 		0.620 Biomarker disease GENOMICS_ENGLAND Mutation of HOXA13 in hand-foot-genital syndrome. 9020844 1997
CUI: C1867801
Disease: Preaxial deficiency, postaxial polydactyly and hypospadias
Preaxial deficiency, postaxial polydactyly and hypospadias 		0.620 Biomarker disease GENOMICS_ENGLAND
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease BEFREE Our results provide compelling evidence of a role for HOXA13 in HCC development and highlight for the first time its ability to modulate response to sorafenib. 29035381 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease CTD_human Computational Discovery of Niclosamide Ethanolamine, a Repurposed Drug Candidate That Reduces Growth of Hepatocellular Carcinoma Cells In Vitro and in Mice by Inhibiting Cell Division Cycle 37 Signaling. 28284560 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 Biomarker disease BEFREE HOXA13), glutaminase (GLS1) was identified as a potential downstream target of the miR-192/-204-HOTTIP axis in HCC. 26710269 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 GeneticVariation disease BEFREE Here, by correlating clinicopathological and expression data, we demonstrate that the levels of HOTTIP and HOXA13 are associated with HCC patients' clinical progression and predict disease outcome. 24114970 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 AlteredExpression disease BEFREE The comparison of the HOX gene network expression between nontumorous livers and hepatocellular carcinomas (HCCs) highlights significant differences in the locus A HOX genes, located on chromosome 7, with a consistent overexpression of HOXA13 mRNA thus validating this gene deregulation as a feature of HCC. 21626505 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.350 GeneticVariation disease BEFREE Expression of the Hoxa-13 gene correlates to hepatitis B and C virus associated HCC. 11237769 2001
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.320 Biomarker disease RGD Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring. 27079746 2016
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.320 Biomarker disease BEFREE Hypospadias in the Hoxa13 -/- mice occurs as a result of the combined loss of Fgf8 and Bmp7 expression in the UPE. 17264867 2007
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.320 Biomarker disease BEFREE Mice mutant for Hoxa13 also exhibit changes in androgen receptor expression, providing a developmental link between Hoxa13-associated hypospadias and those produced by antagonists to androgen signaling. 12783783 2003
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.320 Biomarker disease HPO
CUI: C1720887
Disease: Female Urogenital Diseases
Female Urogenital Diseases 		0.300 Biomarker group CTD_human Development of the mammalian female reproductive tract. 16002989 2005
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.300 Biomarker disease GENOMICS_ENGLAND Mutation of HOXA13 in hand-foot-genital syndrome. 9020844 1997
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.200 Biomarker group RGD Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring. 27079746 2016
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		0.200 Biomarker group RGD Sonic hedgehog, BMP4, and Hox genes in the development of anorectal malformations in Ethylenethiourea-exposed fetal rats. 17161201 2006
CUI: C0152240
Disease: Uterus bilocularis
Uterus bilocularis 		0.200 Biomarker disease MGD Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. 15385446 2004
CUI: C0478044
Disease: Other doubling of uterus
Other doubling of uterus 		0.200 Biomarker disease MGD Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. 15385446 2004