Rare disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet code 90636)
Associated genes:
Name: diphosphoinositol pentakisphosphate kinase 2
Symbol: PPIP5K2
Synonyms: lang: en
text: CFAP160
lang: en
text: KIAA0433
lang: en
text: VIP2
GeneType: Name: gene with protein product
Name: transmembrane protein 132E
Symbol: TMEM132E
Synonyms: lang: en
text: DFNB99
GeneType: Name: gene with protein product
Name: GRB2 related adaptor protein
Symbol: GRAP
GeneType: Name: gene with protein product
Name: B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
Symbol: BDP1
Synonyms: lang: en
text: HSA238520
lang: en
text: KIAA1241
lang: en
text: KIAA1689
lang: en
text: TFC5
lang: en
text: TFIIIB150
lang: en
text: TFIIIB90
GeneType: Name: gene with protein product
Name: AFG2 AAA ATPase homolog B
Symbol: AFG2B
Synonyms: lang: en
text: FLJ12286
lang: en
text: MGC5347
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: asparaginyl-tRNA synthetase 2, mitochondrial
Symbol: NARS2
Synonyms: lang: en
text: FLJ23441
lang: en
text: SLM5
lang: en
text: asparagine tRNA ligase 2, mitochondrial (putative)
GeneType: Name: gene with protein product
Name: receptor tyrosine kinase like orphan receptor 1
Symbol: ROR1
GeneType: Name: gene with protein product
Name: WW domain binding protein 2
Symbol: WBP2
Synonyms: lang: en
text: GRAMD6
lang: en
text: WBP-2
GeneType: Name: gene with protein product
Name: EPS8 signaling adaptor L2
Symbol: EPS8L2
Synonyms: lang: en
text: Epidermal growth factor receptor kinase substrate 8-like protein 2
lang: en
text: FLJ21935
lang: en
text: FLJ22171
lang: en
text: MGC3088
GeneType: Name: gene with protein product
Name: solute carrier family 26 member 4
Symbol: SLC26A4
Synonyms: lang: en
text: PDS
lang: en
text: Pendred syndrome
lang: en
text: pendrin
GeneType: Name: gene with protein product
Name: barttin CLCNK type accessory subunit beta
Symbol: BSND
Synonyms: lang: en
text: BART
GeneType: Name: gene with protein product
Name: cadherin related 23
Symbol: CDH23
Synonyms: lang: en
text: CDHR23
lang: en
text: cadherin-related family member 23
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: transmembrane inner ear
Symbol: TMIE
GeneType: Name: gene with protein product
Name: transmembrane serine protease 3
Symbol: TMPRSS3
GeneType: Name: gene with protein product
Name: USH1 protein network component harmonin
Symbol: USH1C
Synonyms: lang: en
text: AIE-75
lang: en
text: NY-CO-37
lang: en
text: NY-CO-38
lang: en
text: PDZ-73
lang: en
text: PDZ73
lang: en
text: PDZD7C
lang: en
text: harmonin
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: ELMO domain containing 3
Symbol: ELMOD3
Synonyms: lang: en
text: FLJ21977
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: MET proto-oncogene, receptor tyrosine kinase
Symbol: MET
Synonyms: lang: en
text: DFNB97
lang: en
text: HGFR
lang: en
text: RCCP2
lang: en
text: hepatocyte growth factor receptor
GeneType: Name: gene with protein product
Name: myosin XVA
Symbol: MYO15A
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: otoferlin
Symbol: OTOF
Synonyms: lang: en
text: DFNB6
lang: en
text: FER1L2
lang: en
text: fer-1-like family member 2
GeneType: Name: gene with protein product
Name: protocadherin related 15
Symbol: PCDH15
Synonyms: lang: en
text: CDHR15
lang: en
text: cadherin-related family member 15
GeneType: Name: gene with protein product
Name: whirlin
Symbol: WHRN
Synonyms: lang: en
text: CIP98
lang: en
text: PDZD7B
lang: en
text: USH2D
GeneType: Name: gene with protein product
Name: stereocilin
Symbol: STRC
GeneType: Name: gene with protein product
Name: TRIO and F-actin binding protein
Symbol: TRIOBP
Synonyms: lang: en
text: HRIHFB2122
lang: en
text: KIAA1662
lang: en
text: TAP68
lang: en
text: Tara
GeneType: Name: gene with protein product
Name: radixin
Symbol: RDX
GeneType: Name: gene with protein product
Name: LHFPL tetraspan subfamily member 5
Symbol: LHFPL5
Synonyms: lang: en
text: MGC33835
lang: en
text: Tmhs
lang: en
text: dJ510O8.8
lang: en
text: tetraspan membrane protein of hair cell stereocilia
GeneType: Name: gene with protein product
Name: espin
Symbol: ESPN
GeneType: Name: gene with protein product
Name: estrogen related receptor beta
Symbol: ESRRB
Synonyms: lang: en
text: ERR2
lang: en
text: ERRb
lang: en
text: ERRbeta
lang: en
text: NR3B2
GeneType: Name: gene with protein product
Name: MARVEL domain containing 2
Symbol: MARVELD2
Synonyms: lang: en
text: FLJ30532
lang: en
text: TRIC
lang: en
text: tricellulin
GeneType: Name: gene with protein product
Name: myosin IIIA
Symbol: MYO3A
GeneType: Name: gene with protein product
Name: solute carrier family 26 member 5
Symbol: SLC26A5
Synonyms: lang: en
text: DFNB61
lang: en
text: PRESTIN
lang: en
text: deafness, neurosensory, autosomal recessive, 61
GeneType: Name: gene with protein product
Name: otoancorin
Symbol: OTOA
Synonyms: lang: en
text: CT108
lang: en
text: cancer/testis antigen 108
GeneType: Name: gene with protein product
Name: pejvakin
Symbol: PJVK
GeneType: Name: gene with protein product
Name: claudin 14
Symbol: CLDN14
GeneType: Name: gene with protein product
Name: leucine rich transmembrane and O-methyltransferase domain containing
Symbol: LRTOMT
Synonyms: lang: en
text: CFAP111
lang: en
text: COMT2
lang: en
text: LRTOMT1
lang: en
text: LRTOMT2
GeneType: Name: gene with protein product
Name: hepatocyte growth factor
Symbol: HGF
Synonyms: lang: en
text: F-TCF
lang: en
text: HGFB
lang: en
text: HPTA
lang: en
text: SF
lang: en
text: fibroblast-derived tumor cytotoxic factor
lang: en
text: hepatopoietin A
lang: en
text: lung fibroblast-derived mitogen
lang: en
text: scatter factor
GeneType: Name: gene with protein product
Name: lipoxygenase homology PLAT domains 1
Symbol: LOXHD1
Synonyms: lang: en
text: FLJ32670
lang: en
text: LH2D1
GeneType: Name: gene with protein product
Name: glutaredoxin and cysteine rich domain containing 1
Symbol: GRXCR1
Synonyms: lang: en
text: PPP1R88
lang: en
text: protein phosphatase 1, regulatory subunit 88
GeneType: Name: gene with protein product
Name: taperin
Symbol: TPRN
Synonyms: lang: en
text: FLJ90254
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: serpin family B member 6
Symbol: SERPINB6
Synonyms: lang: en
text: CAP
lang: en
text: PTI
lang: en
text: cytoplasmic antiproteinase
lang: en
text: placental thrombin inhibitor
GeneType: Name: gene with protein product
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: G protein signaling modulator 2
Symbol: GPSM2
Synonyms: lang: en
text: LGN
lang: en
text: Pins
GeneType: Name: gene with protein product
Name: methionine sulfoxide reductase B3
Symbol: MSRB3
Synonyms: lang: en
text: DKFZp686C1178
lang: en
text: FLJ36866
GeneType: Name: gene with protein product
Name: immunoglobulin like domain containing receptor 1
Symbol: ILDR1
Synonyms: lang: en
text: MGC50831
lang: en
text: angulin-2
GeneType: Name: gene with protein product
Name: lysyl-tRNA synthetase 1
Symbol: KARS1
Synonyms: lang: en
text: KARS1
lang: en
text: KARS2
lang: en
text: lysine tRNA ligase
GeneType: Name: gene with protein product
Name: GIPC PDZ domain containing family member 3
Symbol: GIPC3
Synonyms: lang: en
text: DFNB95
GeneType: Name: gene with protein product
Name: thrombospondin type laminin G domain and EAR repeats
Symbol: TSPEAR
Synonyms: lang: en
text: MGC11251
lang: en
text: TSP-EAR
GeneType: Name: gene with protein product
Name: calcium and integrin binding family member 2
Symbol: CIB2
Synonyms: lang: en
text: KIP2
lang: en
text: kinase interacting protein 2
GeneType: Name: gene with protein product
Name: calcium binding protein 2
Symbol: CABP2
GeneType: Name: gene with protein product
Name: otogelin
Symbol: OTOG
Synonyms: lang: en
text: FLJ46346
lang: en
text: OTGN
lang: en
text: mlemp
GeneType: Name: gene with protein product
Name: polyribonucleotide nucleotidyltransferase 1
Symbol: PNPT1
Synonyms: lang: en
text: 3'-5' RNA exonuclease
lang: en
text: OLD35
lang: en
text: PNPase
lang: en
text: Polynucleotide phosphorylase
lang: en
text: old-35
lang: en
text: polynucleotide phosphorylase
GeneType: Name: gene with protein product
Name: otogelin like
Symbol: OTOGL
Synonyms: lang: en
text: FLJ90579
GeneType: Name: gene with protein product
Name: spectrin repeat containing nuclear envelope family member 4
Symbol: SYNE4
Synonyms: lang: en
text: FLJ36445
lang: en
text: Nesp4
lang: en
text: Nesprin-4
GeneType: Name: gene with protein product
Name: SLIT and NTRK like family member 6
Symbol: SLITRK6
Synonyms: lang: en
text: FLJ22774
GeneType: Name: gene with protein product
Name: glutaredoxin and cysteine rich domain containing 2
Symbol: GRXCR2
Synonyms: lang: en
text: DFNB101
GeneType: Name: gene with protein product
Name: EGFR pathway substrate 8, signaling adaptor
Symbol: EPS8
GeneType: Name: gene with protein product
Name: adenylate cyclase 1
Symbol: ADCY1
Synonyms: lang: en
text: AC1
lang: en
text: adenylyl cyclase subtype 1
GeneType: Name: gene with protein product
Name: chloride intracellular channel 5
Symbol: CLIC5
Synonyms: lang: en
text: DFNB102
GeneType: Name: gene with protein product
Name: RHO family interacting cell polarization regulator 2
Symbol: RIPOR2
Synonyms: lang: en
text: DIFF48
lang: en
text: KIAA0386
lang: en
text: MYONAP
lang: en
text: myogenesis-related and NCAM-associated protein homolog (chicken)
GeneType: Name: gene with protein product
Name: doublecortin domain containing 2
Symbol: DCDC2
Synonyms: lang: en
text: DCDC2A
lang: en
text: KIAA1154
lang: en
text: NPHP19
lang: en
text: RU2
lang: en
text: nephronophthisis 19
GeneType: Name: gene with protein product
Name: ATPase plasma membrane Ca2+ transporting 2
Symbol: ATP2B2
Synonyms: lang: en
text: PMCA2
lang: en
text: plasma membrane Ca2+ pump 2
lang: en
text: plasma membrane calcium-transporting ATPase 2
GeneType: Name: gene with protein product
Name: sphingosine-1-phosphate receptor 2
Symbol: S1PR2
Synonyms: lang: en
text: AGR16
lang: en
text: Gpcr13
lang: en
text: H218
GeneType: Name: gene with protein product
Name: myelin protein zero like 2
Symbol: MPZL2
Synonyms: lang: en
text: EVA
GeneType: Name: gene with protein product
Name: cell division cycle 14A
Symbol: CDC14A
Synonyms: lang: en
text: Cdc14A1
lang: en
text: Cdc14A2
lang: en
text: DFNB105
lang: en
text: cdc14
GeneType: Name: gene with protein product
Name: gap junction protein alpha 1
Symbol: GJA1
Synonyms: lang: en
text: CX43
lang: en
text: ODD
lang: en
text: ODOD
lang: en
text: SDTY3
lang: en
text: connexin 43
lang: en
text: oculodentodigital dysplasia (syndactyly type III)
GeneType: Name: gene with protein product
Name: membrane integral NOTCH2 associated receptor 2
Symbol: MINAR2
Synonyms: lang: en
text: Major intrinsically disordered NOTCH2-binding receptor 1-like
GeneType: Name: gene with protein product