Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker CLINGEN A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder. 24135434

2013

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker CLINGEN Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell. 19417007

2009

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker CLINGEN Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse. 17055430

2006

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker CLINGEN Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness. 12127154

2002

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker CLINGEN A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms. 11483641

2001

Entrez Id: 9381
Gene Symbol: OTOF
OTOF
Sensorineural hearing loss, bilateral
0.500 Biomarker CLINGEN A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. 10192385

1999

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN Distinct Expression Patterns Of Causative Genes Responsible For Hereditary Progressive Hearing Loss In Non-Human Primate Cochlea. 26915689

2016

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family. 24933359

2014

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss. 24506266

2014

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae. 22848872

2012

Entrez Id: 4641
Gene Symbol: MYO1C
MYO1C
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN Three heterozygous missense mutations in the motor domain of myosin 1c (Myo1c), which mediates adaptation in the inner ear, are associated with bilateral sensorineural hearing loss in humans. 20640478

2011

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein. 21522185

2011

Entrez Id: 4641
Gene Symbol: MYO1C
MYO1C
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN To better understand the role of this gene family we performed a mutational screening on two candidate genes, MYO1C and MYO1F, analyzing hundreds of patients, affected by bilateral sensorineural hearing loss and coming from different European countries. 19027848

2009

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family. 17868390

2007

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN The deafness gene dfna5 is crucial for ugdh expression and HA production in the developing ear in zebrafish. 14736743

2004

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. 14676472

2004

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN DFNA5: hearing impairment exon instead of hearing impairment gene? 15173223

2004

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. 12853124

2003

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. 14559215

2003

Entrez Id: 4641
Gene Symbol: MYO1C
MYO1C
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN Myosin-I isozymes in neonatal rodent auditory and vestibular epithelia. 12486594

2002

Entrez Id: 1687
Gene Symbol: GSDME
GSDME
Sensorineural hearing loss, bilateral
0.300 Biomarker CLINGEN Nonsyndromic hearing impairment is associated with a mutation in DFNA5. 9771715

1998