Gene: HOXA13 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease BEFREE Multifaceted Hoxa13 function in urogenital development underlies the Hand-Foot-Genital Syndrome. 30649340 2019
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 GeneticVariation disease BEFREE Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. 24934387 2014
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease CTD_human Human HOX gene disorders. 24239177 2014
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease BEFREE Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome. 17935235 2007
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 GeneticVariation disease BEFREE Thus, expansions in all three large HOXA13 polyalanine repeats can cause HFGS. 15385446 2004
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease MGD Thus, expansions in all three large HOXA13 polyalanine repeats can cause HFGS. 15385446 2004
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 GeneticVariation disease UNIPROT We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. 10839976 2000
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease BEFREE We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. 10839976 2000
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease MGD Hoxa-13 gene mutation results in abnormal seminal vesicle and prostate development. 10210434 1999
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease MGD Infertility in adult hypodactyly mice is associated with hypoplasia of distal reproductive structures. 10569982 1999
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 GeneticVariation disease BEFREE We report the identification of a HOXA13 nonsense mutation in a family with hand-foot-genital syndrome. 9020844 1997
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		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
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease MGD Hypodactyly, a semidominant lethal mutation in mice. 5519671 1971
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13 		1.000 Biomarker disease GENOMICS_ENGLAND