HOXA13, homeobox A13, 3209

N. diseases: 126; N. variants: 7
Disease: Hand foot uterus syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912542
rs121912542
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
CUI: C1841679
Disease:
Hand foot uterus syndrome 		0.800 GeneticVariation UNIPROT Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. 26590955 2016
dbSNP: rs121912542
rs121912542
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
CUI: C1841679
Disease:
Hand foot uterus syndrome 		0.800 GeneticVariation UNIPROT Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. 24934387 2014
dbSNP: rs121912542
rs121912542
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
CUI: C1841679
Disease:
Hand foot uterus syndrome 		0.800 GeneticVariation 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
dbSNP: rs121912542
rs121912542
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
CUI: C1841679
Disease:
Hand foot uterus syndrome 		0.800 GeneticVariation UNIPROT Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. 10839976 2000
dbSNP: rs121912542
rs121912542
Entrez Id: 3209
Gene Symbol: HOXA13
HOXA13
CUI: C1841679
Disease:
Hand foot uterus syndrome 		G 0.800 CausalMutation CLINVAR