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 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 CausalMutation phenotype CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
CUI: C0011053
Disease: Deafness
Deafness 		0.100 CausalMutation phenotype CLINVAR
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		0.100 GeneticVariation disease CLINVAR
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		0.100 Biomarker phenotype HPO
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: 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: 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: 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: C4021806
Disease: Prelingual sensorineural hearing impairment
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
CUI: C0002893
Disease: Refractory anemias
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
CUI: C0002894
Disease: Refractory anaemia with excess blasts
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
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: 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 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 Analysis of the 'angulin' proteins LSR, ILDR1 and ILDR2--tricellulin recruitment, epithelial barrier function and implication in deafness pathogenesis. 23239027 2013
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: 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: 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: 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: 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: 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