Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 220074
Gene Symbol: LRTOMT
LRTOMT
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.900 Biomarker CLINGEN The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population. 23053991

2012
Entrez Id: 220074
Gene Symbol: LRTOMT
LRTOMT
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.900 Biomarker CLINGEN A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame. 21739586

2011
Entrez Id: 220074
Gene Symbol: LRTOMT
LRTOMT
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.900 Biomarker CLINGEN Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. 18953341

2008
Entrez Id: 220074
Gene Symbol: LRTOMT
LRTOMT
CUI: C1969621
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 63
DEAFNESS, AUTOSOMAL RECESSIVE 63 		0.900 Biomarker CLINGEN A catechol-O-methyltransferase that is essential for auditory function in mice and humans. 18794526

2008