Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0005845
Disease: Blood urea nitrogen measurement
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
CUI: C0005845
Disease: Blood urea nitrogen measurement
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
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 GeneticVariation disease BEFREE ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population. 24768815 2015
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.100 GeneticVariation disease CLINVAR
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation phenotype CLINVAR
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 Biomarker disease MGD ILDR1 null mice, a model of human deafness DFNB42, show structural aberrations of tricellular tight junctions and degeneration of auditory hair cells. 25217574 2015
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 Biomarker disease CTD_human
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 GeneticVariation disease UNIPROT Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 21255762 2011
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 CausalMutation disease CLINVAR
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 Biomarker disease MGD Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. 25822906 2015
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 Biomarker disease MGD ILDR1 deficiency causes degeneration of cochlear outer hair cells and disrupts the structure of the organ of Corti: a mouse model for human DFNB42. 25819842 2015
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND Ildr1b is essential for semicircular canal development, migration of the posterior lateral line primordium and hearing ability in zebrafish: implications for a role in the recessive hearing impairment DFNB42. 24990150 2014
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
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
CUI: C1611743
Disease: Familial (FPAH)
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
CUI: C0848765
Disease: Hearing disability
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
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
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 Biomarker phenotype GENOMICS_ENGLAND Recently, ILDR1 has been found to be responsible for autosomal recessive hearing impairment DFNB42. 24990150 2014
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 CausalMutation phenotype CLINVAR
CUI: C0018780
Disease: Hearing Loss, High-Frequency
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
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
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
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		0.100 Biomarker phenotype HPO
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. 23226338 2012