DisGeNET - a database of gene-disease associations

HOXA13, homeobox A13, 3209

N. diseases: 126; N. variants: 7

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

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

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

Entrez Id:	3209
Gene Symbol:	HOXA13

HOXA13

CUI:	C1841679
Disease:

Hand foot uterus syndrome

0.800

CausalMutation

CLINVAR

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0020538
Disease:

Hypertensive disease

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0428886
Disease:

Mean blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

30487518

2018

dbSNP:

rs104894019

Entrez Id:	3209
Gene Symbol:	HOXA13

HOXA13

CUI:	C1841679
Disease:

Hand foot uterus syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs1158254994

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C1841679
Disease:

Hand foot uterus syndrome

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906542

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C1841679
Disease:

Hand foot uterus syndrome

GAGGACGACGCGGCGGCGGCGGCGGCGGCTGCAGCGGCAGCCGCGGCAGCAGC

0.700

CausalMutation

CLINVAR

dbSNP:

rs17501292

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0027651
Disease:

Neoplasms

0.010

GeneticVariation

BEFREE

One polymorphism, rs17501292, could improve the overall survival (OS) of CRC patients in the tumor of ulcerative/invasive-type subgroup.

30940774

2019

dbSNP:

rs2067087

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.010

GeneticVariation

BEFREE

The results showed three SNPs (rs3807598, rs2067087, and rs17427960) were associated with enhanced CRC risk both in overall and stratified analysis.

30940774

2019

dbSNP:

rs17501292

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C2239176
Disease:

Liver carcinoma

0.010

GeneticVariation

BEFREE

In addition, the two-way interaction of HOTTIP rs17501292-MALAT1 rs619586 polymorphisms showed a decreased effect on HCC risk (Pinteraction = 0.028, OR = 0.30) and epistasis with each other.

29930469

2018

dbSNP:

rs2071265

Entrez Id:	3209;100316868
Gene Symbol:	HOXA13;HOTTIP

HOXA13;HOTTIP

CUI:	C2239176
Disease:

Liver carcinoma

0.010

GeneticVariation

BEFREE

HOTTIP rs2071265 is associated with an earlier recurrence in HCC patients.

30652087

2018