OTSC2, otosclerosis 2, 93999

N. diseases: 2; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
0.060 GeneticVariation disease BEFREE Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2. 20182450 2010
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
0.060 GeneticVariation disease BEFREE No evidence of linkage between 7q33-36 locus (OTSC2) and otosclerosis in seven British Caucasian pedigrees. 17908356 2007
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
0.060 Biomarker disease BEFREE Until now, genetic linkage in otosclerosis has been demonstrated in an Indian family and a Belgian family, showing the presence of two otosclerosis loci, OTSC1 and OTSC2, respectively. 14658855 2003
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
0.060 GeneticVariation disease BEFREE We identified the first locus for otosclerosis (OTSC1) on chromosome 15 in 1998 and reported a second locus (OTSC2) on chromosome 7 last year. 12114476 2002
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
0.060 Biomarker disease BEFREE We localized the first autosomal-dominant locus to chromosome 15 in 1998 (OTSC1) in an Indian family and, recently, we reported the localization of a second gene for otosclerosis to a 16 cM interval on chromosome 7q (OTSC2). 11934656 2002
CUI: C0029899
Disease: Otosclerosis
Otosclerosis
0.060 GeneticVariation disease BEFREE Analysis of key recombinant individuals maps this otosclerosis locus (OTSC2) to a 16-cM interval on chromosome 7q34-36 between markers D7S495 and D7S2426. 11170898 2001
CUI: C4551901
Disease: OTOSCLEROSIS 1
OTOSCLEROSIS 1
0.010 GeneticVariation disease BEFREE Results of this study exclude linkage to OTSC1 and OTSC2 and identify a third locus, OTSC3, on chromosome 6p. 12114476 2002