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 Biomarker disease BEFREE Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome. 30649340 2019
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE Significantly, the 7p15 breakpoint was located 523 kb upstream of HOXA13, the locus for hand-foot-genital syndrome. 27272187 2016
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease UNIPROT Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. 26590955 2016
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease UNIPROT 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: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. 24934387 2014
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE Mosaicism for HOXA13 polyalanine expansions may be associated with a normal phenotype, making examination of parental DNA essential in apparently de novo HFGS cases to predict accurate recurrence risks. 23532960 2013
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome. 21549968 2011
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease BEFREE Affected members of a family with HFGS showed a novel expansion of the third polyalanine tract of HOXA13, inserting 10 alanines in-frame. 19591980 2010
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease BEFREE Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. 17935235 2007
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE Mutations in HOXA13 and HOXD13 are associated with disorders of limb formation such as hand-foot-genital syndrome (HFGS), synpolydactyly (SPD), and brachydactyly. 15643670 2005
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE Thus, expansions in all three large HOXA13 polyalanine repeats can cause HFGS. 15385446 2004
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease MGD Thus, expansions in all three large HOXA13 polyalanine repeats can cause HFGS. 15385446 2004
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease UNIPROT A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length? 12073020 2002
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE HOX genes play a fundamental role in the development of the vertebrate central nervous system, axial skeleton, limbs, gut, urogenital tract and external genitalia, but it is only in the last 4 years that mutations in two of the 39 human HOX genes have been shown to cause congenital malformations; HOXD13, which is mutated in synpolydactyly, and HOXA13, which is mutated in Hand-Foot-Genital syndrome. 11206481 2001
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease UNIPROT We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. 10839976 2000
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. 10839976 2000
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease BEFREE We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. 10839976 2000
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease MGD Hoxa-13 gene mutation results in abnormal seminal vesicle and prostate development. 10210434 1999
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease MGD Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures. 10569982 1999
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 GeneticVariation disease BEFREE We report the identification of a HOXA13 nonsense mutation in a family with hand-foot-genital syndrome. 9020844 1997
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease CTD_human We report the identification of a HOXA13 nonsense mutation in a family with hand-foot-genital syndrome. 9020844 1997
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND We report the identification of a HOXA13 nonsense mutation in a family with hand-foot-genital syndrome. 9020844 1997
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease MGD Hypodactyly, a semidominant lethal mutation in mice. 5519671 1971
CUI: C1841679
Disease: Hand foot uterus syndrome
Hand foot uterus syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND