Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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: 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 Biomarker disease CTD_human
CUI: C1864818
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) 		0.900 CausalMutation disease CLINVAR
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 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 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 CausalMutation phenotype CLINVAR
CUI: C3711374
Disease: Nonsyndromic Deafness
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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Deficiency of angulin-2/ILDR1, a tricellular tight junction-associated membrane protein, causes deafness with cochlear hair cell degeneration in mice. 25822906 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN 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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease BEFREE Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness. 25217574 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN 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: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. 23239027 2013
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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. 22903915 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 Biomarker disease CLINGEN 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
CUI: C3711374
Disease: Nonsyndromic Deafness
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
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.340 GeneticVariation disease BEFREE DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3. 15641023 2005
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.200 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: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.200 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