Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
0.340 Biomarker disease CLINGEN Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577 2016
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
0.340 Biomarker disease BEFREE Recessive mutations of TRIC (DFNB49) encoding tricellulin and ILDR1 (DFNB42) cause human nonsyndromic deafness. 25217574 2015
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
0.340 Biomarker disease CLINGEN Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. 23226338 2012
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
0.340 Biomarker disease CLINGEN A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. 22903915 2012
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
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
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
0.340 GeneticVariation disease BEFREE DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3. 15641023 2005