Rare disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet code 90635)
Associated genes:
Name: KIT ligand
Symbol: KITLG
Synonyms: lang: en
text: DFNA69
lang: en
text: FPH2
lang: en
text: KL-1
lang: en
text: Kitl
lang: en
text: SCF
lang: en
text: SF
lang: en
text: SLF
lang: en
text: familial progressive hyperpigmentation 2
lang: en
text: mast cell growth factor
lang: en
text: steel factor
lang: en
text: stem cell factor
GeneType: Name: gene with protein product
Name: centromere protein P
Symbol: CENPP
Synonyms: lang: en
text: CENP-P
lang: en
text: RP11-19J3.3
GeneType: Name: gene with protein product
Name: ubiquitin specific peptidase 48
Symbol: USP48
Synonyms: lang: en
text: FLJ11328
lang: en
text: FLJ20103
lang: en
text: FLJ23054
lang: en
text: FLJ23277
lang: en
text: MGC14879
GeneType: Name: gene with protein product
Name: single stranded DNA binding protein 1
Symbol: SSBP1
Synonyms: lang: en
text: SSBP
lang: en
text: mtSSB
GeneType: Name: gene with protein product
Name: transformation/transcription domain associated protein
Symbol: TRRAP
Synonyms: lang: en
text: PAF400
lang: en
text: TR-AP
lang: en
text: Tra1
GeneType: Name: gene with protein product
Name: phosphodiesterase 1C
Symbol: PDE1C
Synonyms: lang: en
text: Hcam3
GeneType: Name: gene with protein product
Name: ATPase phospholipid transporting 11A
Symbol: ATP11A
Synonyms: lang: en
text: ATPIH
lang: en
text: ATPIS
lang: en
text: KIAA1021
lang: en
text: Phospholipid-translocating ATPase
lang: en
text: Potential phospholipid-transporting ATPase IH
lang: en
text: phospholipid-translocating ATPase
lang: en
text: potential phospholipid-transporting ATPase IH
GeneType: Name: gene with protein product
Name: solute carrier family 44 member 4
Symbol: SLC44A4
Synonyms: lang: en
text: CTL4
lang: en
text: DFNA72
lang: en
text: FLJ14491
lang: en
text: NG22
lang: en
text: TPPT
GeneType: Name: gene with protein product
Name: POU class 4 homeobox 3
Symbol: POU4F3
Synonyms: lang: en
text: BRN3C
GeneType: Name: gene with protein product
Name: SIX homeobox 1
Symbol: SIX1
GeneType: Name: gene with protein product
Name: tectorin alpha
Symbol: TECTA
GeneType: Name: gene with protein product
Name: transmembrane channel like 1
Symbol: TMC1
GeneType: Name: gene with protein product
Name: wolframin ER transmembrane glycoprotein
Symbol: WFS1
Synonyms: lang: en
text: DIDMOAD
lang: en
text: WFS
GeneType: Name: gene with protein product
Name: cochlin
Symbol: COCH
Synonyms: lang: en
text: COCH-5B2
GeneType: Name: gene with protein product
Name: collagen type XI alpha 2 chain
Symbol: COL11A2
Synonyms: lang: en
text: HKE5
GeneType: Name: gene with protein product
Name: gasdermin E
Symbol: GSDME
Synonyms: lang: en
text: ICERE-1
lang: en
text: inversely correlated with estrogen receptor expression
GeneType: Name: gene with protein product
Name: EYA transcriptional coactivator and phosphatase 4
Symbol: EYA4
GeneType: Name: gene with protein product
Name: gap junction protein beta 2
Symbol: GJB2
Synonyms: lang: en
text: CX26
lang: en
text: NSRD1
lang: en
text: connexin 26
GeneType: Name: gene with protein product
Name: gap junction protein beta 3
Symbol: GJB3
Synonyms: lang: en
text: CX31
lang: en
text: connexin 31
GeneType: Name: gene with protein product
Name: gap junction protein beta 6
Symbol: GJB6
Synonyms: lang: en
text: CX30
lang: en
text: EDH
lang: en
text: HED
lang: en
text: connexin 30
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 4
Symbol: KCNQ4
Synonyms: lang: en
text: Kv7.4
GeneType: Name: gene with protein product
Name: myosin heavy chain 14
Symbol: MYH14
Synonyms: lang: en
text: FLJ13881
lang: en
text: KIAA2034
lang: en
text: MHC16
lang: en
text: MYH17
GeneType: Name: gene with protein product
Name: myosin heavy chain 9
Symbol: MYH9
Synonyms: lang: en
text: EPSTS
lang: en
text: FTNS
lang: en
text: MHA
lang: en
text: NMHC-II-A
lang: en
text: NMMHCA
lang: en
text: nonmuscle myosin heavy chain II-A
GeneType: Name: gene with protein product
Name: myosin VI
Symbol: MYO6
Synonyms: lang: en
text: KIAA0389
GeneType: Name: gene with protein product
Name: myosin VIIA
Symbol: MYO7A
Synonyms: lang: en
text: NSRD2
GeneType: Name: gene with protein product
Name: coiled-coil domain containing 50
Symbol: CCDC50
Synonyms: lang: en
text: Ymer
GeneType: Name: gene with protein product
Name: grainyhead like transcription factor 2
Symbol: GRHL2
Synonyms: lang: en
text: BOM
lang: en
text: FLJ13782
lang: en
text: brother-of-MGR
GeneType: Name: gene with protein product
Name: crystallin mu
Symbol: CRYM
Synonyms: lang: en
text: DFNA40
lang: en
text: mu-crystallin
lang: en
text: thiomorpholine-carboxylate dehydrogenase
GeneType: Name: gene with protein product
Name: actin gamma 1
Symbol: ACTG1
GeneType: Name: gene with protein product
Name: solute carrier family 17 member 8
Symbol: SLC17A8
Synonyms: lang: en
text: VGLUT3
lang: en
text: vesicular glutamate transporter 3
GeneType: Name: gene with protein product
Name: microRNA 96
Symbol: MIR96
Synonyms: lang: en
text: hsa-mir-96
GeneType: Name: Non-coding RNA
Name: TBC1 domain family member 24
Symbol: TBC1D24
Synonyms: lang: en
text: DFNA65
lang: en
text: KIAA1171
lang: en
text: TBC/LysM-associated domain containing 6
lang: en
text: TLDC6
lang: en
text: deafness, autosomal dominant 65
lang: en
text: skywalker homolog (Drosophila)
GeneType: Name: gene with protein product
Name: tight junction protein 2
Symbol: TJP2
Synonyms: lang: en
text: Friedreich ataxia region gene X104 (tight junction protein ZO-2)
lang: en
text: X104
lang: en
text: ZO-2
lang: en
text: ZO2
lang: en
text: zona occludens 2
GeneType: Name: gene with protein product
Name: CEA cell adhesion molecule 16, tectorial membrane component
Symbol: CEACAM16
Synonyms: lang: en
text: DFNA4B
GeneType: Name: gene with protein product
Name: diaphanous related formin 3
Symbol: DIAPH3
Synonyms: lang: en
text: AN
lang: en
text: DRF3
lang: en
text: FLJ34705
lang: en
text: NSDAN
GeneType: Name: gene with protein product
Name: diablo IAP-binding mitochondrial protein
Symbol: DIABLO
Synonyms: lang: en
text: DFNA64
lang: en
text: DIABLO-S
lang: en
text: FLJ10537
lang: en
text: FLJ25049
lang: en
text: SMAC
lang: en
text: second mitochondria-derived activator of caspase
GeneType: Name: gene with protein product
Name: purinergic receptor P2X 2
Symbol: P2RX2
Synonyms: lang: en
text: P2X2
GeneType: Name: gene with protein product
Name: tenascin C
Symbol: TNC
Synonyms: lang: en
text: MGC167029
lang: en
text: TN
lang: en
text: hexabrachion (tenascin)
GeneType: Name: gene with protein product
Name: myosin IC
Symbol: MYO1C
Synonyms: lang: en
text: MyoIC
lang: en
text: NMI
lang: en
text: Unconventional myosin-Ic
lang: en
text: myr2
GeneType: Name: gene with protein product
Name: oxysterol binding protein like 2
Symbol: OSBPL2
Synonyms: lang: en
text: DFNA67
lang: en
text: KIAA0772
lang: en
text: ORP-2
GeneType: Name: gene with protein product
Name: homer scaffold protein 2
Symbol: HOMER2
Synonyms: lang: en
text: CPD
lang: en
text: Cupidin
lang: en
text: DFNA68
lang: en
text: HOMER-2
lang: en
text: HOMER-2A
lang: en
text: HOMER-2B
lang: en
text: Vesl-2
GeneType: Name: gene with protein product
Name: minichromosome maintenance complex component 2
Symbol: MCM2
Synonyms: lang: en
text: BM28
lang: en
text: D3S3194
lang: en
text: DFNA70
lang: en
text: KIAA0030
lang: en
text: cdc19
lang: en
text: mitotin
GeneType: Name: gene with protein product
Name: CD164 molecule
Symbol: CD164
Synonyms: lang: en
text: DFNA66
lang: en
text: Endolyn
lang: en
text: MGC-24
lang: en
text: MGC-24v
lang: en
text: MUC-24
lang: en
text: Sialomucin core protein 24
lang: en
text: deafness, autosomal dominant 66
lang: en
text: multi-glycosylated core protein 24
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily C member 1 (ABCC1 blood group)
Symbol: ABCC1
Synonyms: lang: en
text: GS-X
lang: en
text: glutathione S-conjugate export pump
GeneType: Name: gene with protein product
Name: protein tyrosine phosphatase receptor type Q
Symbol: PTPRQ
Synonyms: lang: en
text: phosphatidylinositol phosphatase PTPRQ
GeneType: Name: gene with protein product
Name: plastin 1
Symbol: PLS1
Synonyms: lang: en
text: I-plastin
lang: en
text: Plastin-1
lang: en
text: fimbrin
GeneType: Name: gene with protein product
Name: microtubule associated protein 1B
Symbol: MAP1B
Synonyms: lang: en
text: MAP5
lang: en
text: PPP1R102
lang: en
text: protein phosphatase 1, regulatory subunit 102
GeneType: Name: gene with protein product
Name: Dmx like 2
Symbol: DMXL2
Synonyms: lang: en
text: DFNA71
lang: en
text: KIAA0856
lang: en
text: RC3
lang: en
text: rabconnectin 3
GeneType: Name: gene with protein product
Name: myosin IA
Symbol: MYO1A
Synonyms: lang: en
text: Brush border myosin I
lang: en
text: Unconventional myosin-Ia
GeneType: Name: gene with protein product