Mitochondria Phenome Knowledgebase

Phenotypic Feature Hearing-disorders finds 30 Gene-Feature associations that are associated with 30 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Hearing-disorders hearing loss; cognitive; auditory disturbance; hearing impairment neurologic 9702690 10369742 10980309 11204280
ALDH4A1 239510 Hearing-disorders Audiogram findings; 15 decibel hearing loss; bilateral neurologic 4825691
BCS1L 124000 Hearing-disorders hearing loss; sensorineural neurologic 11528392
COX10 220110 Hearing-disorders hearing loss; sensorineural; deafness neurologic 2834526 12928484
DLD 248600 Hearing-disorders deafness; variable neurologic 10448086 12925875
DMPK 160900 Hearing-disorders deafness; auditory problems neurologic 9863600 12639730
ECGF1 603041 Hearing-disorders hearing loss; sensorineural; audiogram abnormal; deaf; deafness; hypoacusia neurologic 16178026 16198108 16294144 16530527
FXN 229300 Hearing-disorders sensorineural; hearing loss; auditory neuropathy; selective hearing loss; BAEP abnormal neurologic 12745158 12878293 16344344
HMGCL 246450 Hearing-disorders poor hearing neurologic 9439591
HSD17B10 300438 Hearing-disorders sensorineural; deafness; audiometry abnormal neurologic 14729408 16148061
MFN2 601152 Hearing-disorders hearing loss neurologic 16437557
MFN2 609260 Hearing-disorders hearing loss; sensorineural; congenital hearing loss neurologic 15549395 16043786 16714318
NDUFS4 252010 Hearing-disorders auditory evoked potential abnormal; brain stem neurologic 10944442
NDUFS7 252010 Hearing-disorders brain acoustical evoked response abnormal; low 5th potential after right accoustic stimulation neurologic 10360771
NDUFS8 252010 Hearing-disorders auditory evoked potentials abnormal; delayed; for all modalities tested; absent acoustical blink neurologic 9837812
OPA1 125250 Hearing-disorders moderate; bilaterally; sensorineural hearing loss; deafness; auditory neuropathy; progressive neurologic 4058877 6493699 12566046 15531309 16158427 16240368
PDHA1 312170 Hearing-disorders deafness neurologic 15384102
PEO1 271245 Hearing-disorders hypacusis; hearing loss; sensorineural; hearing deficit; deafness neurologic 8133312 8159181 8552218 9027505 9879682 16135556
PEO1 609286 Hearing-disorders hearing loss neurologic 15258213
POLG 157640 Hearing-disorders hearing loss; sensorineural; hypacusis; progressive neurologic 12975295 15351195
POLG 258450 Hearing-disorders hearing loss; deafness neurologic 16401742 16621917
POLG 607459 Hearing-disorders hearing loss neurologic 12565911
SCO2 604377 Hearing-disorders brainstem; auditory evoked responses abnormal; increased central conduction times neurologic 10545952
SDHB 115310 Hearing-disorders diminished hearing neurologic 16405730
SDHD 168000 Hearing-disorders deafness; hearing loss; sensorineural; tumor related; hypoacousia neurologic 11343322 11391796 12114404 12218630 12509798 16317055
SLC19A2 249270 Hearing-disorders hearing loss; sensorineural; deafness; deaf neurologic 5767338 6472386 9399900 10391221 10874303 10978358 11380424 14627317 14994241 16373304
SLC25A15 238970 Hearing-disorders deafness neurologic 16376511
SLC25A19 607196 Hearing-disorders no response; oriented sound neurologic 12185364 12376931
SLC25A4 609283 Hearing-disorders bilateral; hearing loss; sensorineural; hypacusis neurologic 10364542 12565915
SPG7 607259 Hearing-disorders hypoacusis; partial loss of hearing neurologic 16534102
SUCLA2 609560 Hearing-disorders hearing loss; sensorineural neurologic 15877282
SURF1 220110 Hearing-disorders auditory evoked potential abnormal neurologic 10647889 10746561
TIMM8A 304700 Hearing-disorders deafness; postlingual; progressive; bilateral; sensorineural; auditory evoked potentials abnormal; brainstem auditory responses absent; loss of spiral ganglion cells; spiral ganglion cells atrophy; presbycusis neurologic 7643352 8841189 10878669 11405816 11449109 11601506 12805099 13771732 15037720 15710860 16411215
TIMM8A 311150 Hearing-disorders hearing loss; infantile; sensorineural neurologic 3425626 7195649 11803487
WFS1 222300 Hearing-disorders hearing loss; sensorineural; deafness; low frequency in heterozygotes; hearing impairment; progressive neurologic 9817917 10521293 11709538 12754709 15070927 15151504 15277431 15605410 16005363 16151413 16442662 16648378
WFS1 600965 Hearing-disorders hearing loss; sensorineural; progressive; low frequency; nonsyndromic; low frequency sensorineural hearing loss; LFSNHL; deafness neurologic 11709537 11709538 12073007 12181639

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