Disease: DEAFNESS, AUTOSOMAL RECESSIVE 42 (disorder) ×
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