Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9241
Gene Symbol: NOG
NOG
0.140 GeneticVariation disease BEFREE The temporal bone pathologic correlate for conductive hearing loss in this patient with a NOG mutation was circumferentially calcified cartilage bridging the stapedovestibular joint space. 26474326 2015
Entrez Id: 9241
Gene Symbol: NOG
NOG
0.140 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: 9241
Gene Symbol: NOG
NOG
0.140 GeneticVariation disease BEFREE These clinical and molecular findings suggest that (1) a broader range of conductive hearing-loss phenotypes are associated with NOG mutations than had previously been recognized, (2) patients with sporadic or familial nonsyndromic otosclerosis should be evaluated for mild features of this syndrome, and (3) NOG alterations should be considered in conductive hearing loss with subtle clinical and skeletal features, even in the absence of symphalangism. 12089654 2002
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.120 GeneticVariation disease LHGDN This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss. 18412859 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.120 GeneticVariation disease BEFREE This points to the possibility that the Cx26 D50N mutation can cause conductive hearing loss. 18412859 2008
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.120 GeneticVariation disease BEFREE High-resolution temporal bone CT scans of children (n = 21) with DFNB1 SNHL were compared to age-matched controls with either conductive hearing loss (CHL, n = 33) or a nonsyndromic, non-DFNB1 SNHL (n = 33). 25583854 2015
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
0.110 GeneticVariation disease BEFREE Lesions in the epithelially expressed human gene FRAS1 cause Fraser syndrome, a complex disease with variable symptoms, including facial deformities and conductive hearing loss. 22782724 2012
Entrez Id: 6949
Gene Symbol: TCOF1
TCOF1
0.110 GeneticVariation disease BEFREE Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse. 20106873 2010
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
0.110 GeneticVariation disease BEFREE Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 20358596 2010
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
0.100 GeneticVariation disease CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
0.100 GeneticVariation disease CLINVAR
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: 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: 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: 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: 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: 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: 2138
Gene Symbol: EYA1
EYA1
0.410 Biomarker disease CTD_human Eya1 heterozygotes show renal abnormalities and a conductive hearing loss similar to BOR syndrome, whereas Eya1 homozygotes lack ears and kidneys due to defective inductive tissue interactions and apoptotic regression of the organ primordia. 10471511 1999
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.410 Biomarker disease BEFREE Eya1 heterozygotes show renal abnormalities and a conductive hearing loss similar to BOR syndrome, whereas Eya1 homozygotes lack ears and kidneys due to defective inductive tissue interactions and apoptotic regression of the organ primordia. 10471511 1999
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.410 Biomarker disease HPO
Entrez Id: 9241
Gene Symbol: NOG
NOG
0.140 Biomarker disease BEFREE Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia. 18983945 2009
Entrez Id: 9241
Gene Symbol: NOG
NOG
0.140 Biomarker disease HPO
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
0.120 Biomarker disease HPO
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
0.110 Biomarker disease BEFREE Together, these results identify a role for Fgfr2 in development of the middle ear skeletal tissues and suggest potential causes for conductive hearing loss in LADD syndrome. 30253032 2019