DisGeNET - a database of gene-disease associations

LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; N. variants: 12

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:

rs72913475

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C1266708
Disease:

Polybrominated biphenyl measurement

0.700

GeneticVariation

GWASCAT

Independent Maternal and Fetal Genetic Effects on Midgestational Circulating Levels of Environmental Pollutants.

28235828

2017

dbSNP:

rs886044666

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

27959697

2017

dbSNP:

rs201587138

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

Mutations in LOXHD1 gene cause various types and severities of hearing loss.

25792669

2015

dbSNP:

rs75949023

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

Disease variants in genomes of 44 centenarians.

25333069

2014

dbSNP:

rs75949023

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.

23897863

2013

dbSNP:

rs201587138

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.

22975204

2012

dbSNP:

rs201587138

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

23226338

2012

dbSNP:

rs75949023

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

CausalMutation

CLINVAR

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

21465660

2011

dbSNP:

rs75949023

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.

21465660

2011

dbSNP:

rs121918370

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs1248889536

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C0011053
Disease:

Deafness

0.700

CausalMutation

CLINVAR

dbSNP:

rs201587138

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs373937326

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs749861944

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs768835732

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs878853231

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs886044666

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs961865375

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C2746083
Disease:

DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs778568636

Entrez Id:	125336
Gene Symbol:	LOXHD1

LOXHD1

CUI:	C3711374
Disease:

Nonsyndromic Deafness

0.010

GeneticVariation

BEFREE

The two sisters, who had either mild or severe high-frequency hearing loss, were compound heterozygous for two novel mutations (c.5674G>T [p.V1892F] and c.4212+1G>A) in LOXHD1, which is responsible for autosomal-recessive nonsyndromic hearing loss DFNB77.

26973026

2016