Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4907
Gene Symbol: NT5E
NT5E
0.010 Biomarker disease BEFREE An 8-year-old boy was referred to the ENT department for further evaluation of right-sided conductive hearing loss. 30761077 2019
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
0.010 GeneticVariation disease BEFREE There were 11 individuals (20.8%) with mucopolysaccharidosis type I with mixed hearing loss, 9 (16.9%) individuals with type I with conductive hearing loss and 9 (16.9%) with type VI with conductive hearing loss. 30517303 2018
Entrez Id: 2762
Gene Symbol: GMDS
GMDS
0.010 GeneticVariation disease BEFREE Moderate/severe functional disability (FD) defined as: developmental delay (GMDS general quotient (GQ) or BSID-II mental developmental index (MDI)) > 2 standard deviations (SD) below the mean; cerebral palsy (CP) requiring aids; sensorineural or conductive deafness (requiring amplification); or bilateral blindness (visual acuity <6/60 in better eye). 26957041 2017
Entrez Id: 1758
Gene Symbol: DMP1
DMP1
0.010 Biomarker disease BEFREE The auditory brainstem response test demonstrated a conductive hearing loss in the adult Dmp1-null mice. 28603080 2017
Entrez Id: 10736
Gene Symbol: SIX2
SIX2
0.010 Biomarker disease BEFREE SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans. 27383657 2016
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
0.010 GeneticVariation disease BEFREE The aim of this study is to find mutational patterns of COL1A1 gene that may account for the putative Van der Hoeve syndrome in the patients carrying symptoms of osteogenesis imperfecta, blue sclera, and conductive deafness. 27044453 2016
Entrez Id: 283310
Gene Symbol: OTOGL
OTOGL
0.010 Biomarker disease BEFREE Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. 24378291 2015
Entrez Id: 5167
Gene Symbol: ENPP1
ENPP1
0.010 GeneticVariation disease BEFREE Early onset conductive hearing loss may further distinguish the autosomal recessive ENPP1 related type from other types of hypophosphatemia. 25741938 2015
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.010 GeneticVariation disease BEFREE We propose that the decreased binding affinity of NOG with the p.R136C mutation to HSPG leads to an excess of BMP signaling and underlies the SYM1 and conductive hearing loss phenotype of carriers. 24735539 2014
Entrez Id: 6383
Gene Symbol: SDC2
SDC2
0.010 GeneticVariation disease BEFREE We propose that the decreased binding affinity of NOG with the p.R136C mutation to HSPG leads to an excess of BMP signaling and underlies the SYM1 and conductive hearing loss phenotype of carriers. 24735539 2014
Entrez Id: 29
Gene Symbol: ABR
ABR
0.010 Biomarker disease BEFREE Ten patients had sensorineural hearing loss (38%), two patients had conductive hearing loss (7.7%), one patient had a mixed hearing loss (3.8%), and two patients had an as yet undefined hearing loss (ABR had not yet been performed at the time of this study) (7.7%). 21982076 2011
Entrez Id: 286
Gene Symbol: ANK1
ANK1
0.010 GeneticVariation disease BEFREE Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 20358596 2010
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
0.020 Biomarker disease BEFREE Because otogelin and otogelin-like are localized in the tectorial membrane, one could expect a cochlear conductive hearing loss, as was previously shown in DFNA13 (COL11A2) and DFNA8/12 (TECTA) patients. 24378291 2015
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
0.020 Biomarker disease BEFREE The results of the psychophysical measurements were similar to those previously published for DFNA8/12 (TECTA) and DFNA13 (COL11A2) patients and thus consistent with an intra-cochlear conductive hearing impairment. 22796475 2012
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.100 CausalMutation disease CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 345643
Gene Symbol: MCIDAS
MCIDAS
0.100 Biomarker disease HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.100 Biomarker disease HPO
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
0.100 Biomarker disease HPO
Entrez Id: 161582
Gene Symbol: DNAAF4
DNAAF4
0.100 Biomarker disease HPO
Entrez Id: 27148
Gene Symbol: STK36
STK36
0.100 Biomarker disease HPO
Entrez Id: 85016
Gene Symbol: CFAP300
CFAP300
0.100 Biomarker disease HPO
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
0.100 Biomarker disease HPO
Entrez Id: 9361
Gene Symbol: LONP1
LONP1
0.100 Biomarker disease HPO
Entrez Id: 54919
Gene Symbol: DNAAF5
DNAAF5
0.100 Biomarker disease HPO
Entrez Id: 246176
Gene Symbol: GAS2L2
GAS2L2
0.100 Biomarker disease HPO