hearing impairment
|
0.420 |
Biomarker
|
phenotype |
BEFREE |
Especially the ILDR1 gene is a high profile candidate, as it contains our top SNP, is a known hearing loss gene, has been linked to age-related hearing impairment before, and in addition is preferentially expressed within hair cells of the inner ear.
|
31645637 |
2019 |
hearing impairment
|
0.420 |
GeneticVariation
|
phenotype |
BEFREE |
Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment.
|
21255762 |
2011 |
Nonsyndromic Deafness
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3.
|
15641023 |
2005 |
Nonsyndromic Deafness
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
A Novel p.G141R Mutation in <i>ILDR1</i> Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families.
|
29849566 |
2018 |
Nonsyndromic Deafness
|
0.340 |
Biomarker
|
disease |
BEFREE |
Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness.
|
25217574 |
2015 |
Nonsyndromic Deafness
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus.
|
21255762 |
2011 |
Sensorineural Hearing Loss (disorder)
|
0.110 |
Biomarker
|
disease |
BEFREE |
Previously reported recessive mutations within ILDR1 have been shown to cause severe to profound nonsyndromic sensorineural hearing loss (SNHL), DFNB42.
|
25668204 |
2015 |
Refractory anemias
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup.
|
22365942 |
2012 |
Refractory anaemia with excess blasts
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The analysis of gene expression was extended to Refractory Anemia (RA) and Refractory Anemia with excess blasts (RAEB) cases revealing ILDR1 overexpression in 36% of RAEB subgroup.
|
22365942 |
2012 |
Hearing Loss, High-Frequency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.
|
25668204 |
2015 |
Diffuse Large B-Cell Lymphoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In the meta-analysis (5,662 cases and 9,237 controls) of the four original GWAS discovery scans and three replication studies, the 3q13.33 locus (rs9831894; minor allele frequency [MAF]=0.40) was associated with DLBCL risk (OR=0.83, P=3.62x10-13). rs9831894 is in linkage disequilibrium (LD) with additional variants that are part of a super-enhancer that physically interacts with promoters of CD86 and ILDR1.
|
31600786 |
2020 |
Congenital deafness
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.
|
24768815 |
2015 |
Hearing disability
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
<i>ILDR1</i>-dependent ARNSHL (DFNB42, OMIM: # 609646) is a very rare sub-type of hearing disability, with unknown prevalence, caused by function-damaging genetic variants in <i>ILDR1</i> gene reported in families of Middle-Eastern origin.
|
28713423 |
2017 |
Familial (FPAH)
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our data also confirms the evidence for ILDR1 allelic heterogeneity and expands the number of familial arNSHL-associated ILDR1 gene mutations.
|
24768815 |
2015 |
MYELODYSPLASTIC SYNDROME
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The biological implications of the ILDR1 overexpression in MDS pathogenesis and its potential prognostic significance should be further investigated.
|
22365942 |
2012 |
Prelingual sensorineural hearing impairment
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These data identify loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a conserved function in hearing in vertebrates, as underlying nonsyndromic prelingual sensorineural hearing impairment.
|
21255762 |
2011 |
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
hearing impairment
|
0.420 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Deafness
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Congenital sensorineural hearing loss
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
|
0.900 |
Biomarker
|
disease |
CTD_human |
|
|
|
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |
Blood urea nitrogen measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A catalog of genetic loci associated with kidney function from analyses of a million individuals.
|
31152163 |
2019 |
Blood urea nitrogen measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
Childhood asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.
|
30929738 |
2019 |