Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
0.010 GeneticVariation phenotype BEFREE Analysis of Dysphonia in Speech and Voice software (CSL Model 4500 equipment, Kay Elemetrics Group) was used to gather speech sample recordings according to the Consensus Auditory-Perceptual Evaluation of Voice/Turkish protocol. 30554679 2019
Entrez Id: 4170
Gene Symbol: MCL1
MCL1
0.010 Biomarker phenotype BEFREE EAT-10 and VHI-10 are better measures of postoperative dysphagia and dysphonia than the current metrics used in spine surgery. 30889036 2019
Entrez Id: 1444
Gene Symbol: CSHL1
CSHL1
0.010 GeneticVariation phenotype BEFREE Analysis of Dysphonia in Speech and Voice software (CSL Model 4500 equipment, Kay Elemetrics Group) was used to gather speech sample recordings according to the Consensus Auditory-Perceptual Evaluation of Voice/Turkish protocol. 30554679 2019
Entrez Id: 450095
Gene Symbol: PLF
PLF
0.010 Biomarker phenotype BEFREE The Utility of Pulmonary Function Testing in Patients Presenting With Dysphonia. 29753445 2019
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
0.010 GeneticVariation phenotype BEFREE Analysis of Dysphonia in Speech and Voice software (CSL Model 4500 equipment, Kay Elemetrics Group) was used to gather speech sample recordings according to the Consensus Auditory-Perceptual Evaluation of Voice/Turkish protocol. 30554679 2019
Entrez Id: 4397
Gene Symbol: MS
MS
0.010 Biomarker phenotype BEFREE Dysphonia Characteristics and Vowel Impairment in Relation to Neurological Status in Patients with Multiple Sclerosis. 30342799 2018
Entrez Id: 5411
Gene Symbol: PNN
PNN
0.010 GeneticVariation phenotype BEFREE We performed the following procedures: general Dysphonia Risk Screening Protocol (General-DRSP) and complementary to speaking voice - teacher (Specific-DRSP), voice recording during class and in an individual situation in a silent room, and measurement of the signal-to-noise ratio and noise levels of classrooms. 29236878 2017
Entrez Id: 650
Gene Symbol: BMP2
BMP2
0.010 Biomarker phenotype BEFREE Recombinant human bone morphogenetic protein-2 versus iliac crest bone graft in anterior cervical discectomy and fusion: Dysphagia and dysphonia rates in the early postoperative period with review of the literature. 28716569 2017
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.010 GeneticVariation phenotype BEFREE Mutations of N-acylsphingosine amidohydrolase 1 are known to separately cause Farber disease (arthritis, subcutaneous nodules, and dysphonia) or SMA with progressive myoclonic epilepsy. 27650050 2016
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
0.010 GeneticVariation phenotype BEFREE We revealed several novel clinical phenotypes and unusual multisystemic presentations with previously described mutations: hearing impairment with a FLNC mutation, dysphonia with a mutation in DES and the first patient with a FLNC mutation presenting respiratory insufficiency as the initial symptom. 25208129 2014
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
0.010 GeneticVariation phenotype BEFREE Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291 2013
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.010 GeneticVariation phenotype BEFREE Taken together with reports of patients with the same TTR variant, Val 107 TTR mutation is probably associated with a clinical phenotype characterized by carpal tunnel syndrome, cardiomyopathy, bulbar palsy and dysphonia. 12039669 2002
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.020 GeneticVariation phenotype BEFREE The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. 28029397 2017
Entrez Id: 9782
Gene Symbol: MATR3
MATR3
0.020 GeneticVariation phenotype BEFREE One type of adult-onset, progressive autosomal-dominant distal myopathy, frequently associated with dysphagia and dysphonia (vocal cord and pharyngeal weakness with distal myopathy [VCPDM]), has been mapped to chromosome 5q31 in a North American pedigree. 19344878 2009
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
0.030 Biomarker phenotype BEFREE Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum of diseases ranging from hereditary generalized dystonia with whispering dysphonia (DYT-TUBB4A) and hereditary spastic paraplegia (HSP) to leukodystrophy hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 30079973 2018
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
0.030 Biomarker phenotype BEFREE Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). 28655586 2017
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
0.030 Biomarker phenotype BEFREE Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 24526230 2014
Entrez Id: 367
Gene Symbol: AR
AR
0.100 Biomarker phenotype HPO
Entrez Id: 9569
Gene Symbol: GTF2IRD1
GTF2IRD1
0.100 Biomarker phenotype HPO
Entrez Id: 6391
Gene Symbol: SDHC
SDHC
0.100 Biomarker phenotype HPO
Entrez Id: 1896
Gene Symbol: EDA
EDA
0.100 Biomarker phenotype HPO
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
0.100 Biomarker phenotype HPO
Entrez Id: 6616
Gene Symbol: SNAP25
SNAP25
0.100 Biomarker phenotype HPO
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
0.100 Biomarker phenotype HPO
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.100 GeneticVariation phenotype CLINVAR