LOXHD1, lipoxygenase homology domains 1, 125336

N. diseases: 11; N. variants: 12
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75949023
rs75949023
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
CUI: C2746083
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		A 0.700 GeneticVariation CLINVAR Disease variants in genomes of 44 centenarians. 25333069 2014
dbSNP: rs75949023
rs75949023
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
CUI: C2746083
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		A 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: rs75949023
rs75949023
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
CUI: C2746083
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		A 0.700 CausalMutation CLINVAR A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 21465660 2011
dbSNP: rs75949023
rs75949023
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
CUI: C2746083
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder) 		A 0.700 GeneticVariation CLINVAR A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. 21465660 2011