Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635Etiological subtypeAutosomal dominantChildhood
Ассоциированные гены50
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KITLG | KIT ligand | Disease-causing germline mutation(s) in | gene with protein product | 184745 |
| CENPP | centromere protein P | Disease-causing germline mutation(s) in | gene with protein product | 611505 |
| USP48 | ubiquitin specific peptidase 48 | Disease-causing germline mutation(s) in | gene with protein product | 617445 |
| SSBP1 | single stranded DNA binding protein 1 | Major susceptibility factor in | gene with protein product | 600439 |
| TRRAP | transformation/transcription domain associated protein | Disease-causing germline mutation(s) in | gene with protein product | 603015 |
| PDE1C | phosphodiesterase 1C | Disease-causing germline mutation(s) in | gene with protein product | 602987 |
| ATP11A | ATPase phospholipid transporting 11A | Disease-causing germline mutation(s) in | gene with protein product | 605868 |
| SLC44A4 | solute carrier family 44 member 4 | Disease-causing germline mutation(s) in | gene with protein product | 606107 |
| POU4F3 | POU class 4 homeobox 3 | Disease-causing germline mutation(s) in | gene with protein product | 602460 |
| SIX1 | SIX homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 601205 |
| TECTA | tectorin alpha | Disease-causing germline mutation(s) in | gene with protein product | 602574 |
| TMC1 | transmembrane channel like 1 | Disease-causing germline mutation(s) in | gene with protein product | 606706 |
| WFS1 | wolframin ER transmembrane glycoprotein | Disease-causing germline mutation(s) in | gene with protein product | 606201 |
| COCH | cochlin | Disease-causing germline mutation(s) in | gene with protein product | 603196 |
| COL11A2 | collagen type XI alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120290 |
| GSDME | gasdermin E | Disease-causing germline mutation(s) in | gene with protein product | 608798 |
| COL11A1 | collagen type XI alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 120280 |
| EYA4 | EYA transcriptional coactivator and phosphatase 4 | Disease-causing germline mutation(s) in | gene with protein product | 603550 |
| GJB2 | gap junction protein beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 121011 |
| GJB3 | gap junction protein beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 603324 |
| GJB6 | gap junction protein beta 6 | Disease-causing germline mutation(s) in | gene with protein product | 604418 |
| KCNQ4 | potassium voltage-gated channel subfamily Q member 4 | Disease-causing germline mutation(s) in | gene with protein product | 603537 |
| MYH14 | myosin heavy chain 14 | Disease-causing germline mutation(s) in | gene with protein product | 608568 |
| MYH9 | myosin heavy chain 9 | Disease-causing germline mutation(s) in | gene with protein product | 160775 |
| MYO6 | myosin VI | Disease-causing germline mutation(s) in | gene with protein product | 600970 |
| MYO7A | myosin VIIA | Disease-causing germline mutation(s) in | gene with protein product | 276903 |
| CCDC50 | coiled-coil domain containing 50 | Disease-causing germline mutation(s) in | gene with protein product | 611051 |
| GRHL2 | grainyhead like transcription factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 608576 |
| CRYM | crystallin mu | Disease-causing germline mutation(s) in | gene with protein product | 123740 |
| ACTG1 | actin gamma 1 | Disease-causing germline mutation(s) in | gene with protein product | 102560 |
| SLC17A8 | solute carrier family 17 member 8 | Disease-causing germline mutation(s) in | gene with protein product | 607557 |
| MIR96 | microRNA 96 | Disease-causing germline mutation(s) in | Non-coding RNA | 611606 |
| TBC1D24 | TBC1 domain family member 24 | Disease-causing germline mutation(s) in | gene with protein product | 613577 |
| TJP2 | tight junction protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 607709 |
| CEACAM16 | CEA cell adhesion molecule 16, tectorial membrane component | Disease-causing germline mutation(s) in | gene with protein product | 614591 |
| DIAPH3 | diaphanous related formin 3 | Disease-causing germline mutation(s) in | gene with protein product | 614567 |
| DIABLO | diablo IAP-binding mitochondrial protein | Disease-causing germline mutation(s) in | gene with protein product | 605219 |
| P2RX2 | purinergic receptor P2X 2 | Disease-causing germline mutation(s) in | gene with protein product | 600844 |
| TNC | tenascin C | Disease-causing germline mutation(s) in | gene with protein product | 187380 |
| MYO1C | myosin IC | Disease-causing germline mutation(s) in | gene with protein product | 606538 |
| OSBPL2 | oxysterol binding protein like 2 | Disease-causing germline mutation(s) in | gene with protein product | 606731 |
| HOMER2 | homer scaffold protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 604799 |
| MCM2 | minichromosome maintenance complex component 2 | Disease-causing germline mutation(s) in | gene with protein product | 116945 |
| CD164 | CD164 molecule | Disease-causing germline mutation(s) in | gene with protein product | 603356 |
| ABCC1 | ATP binding cassette subfamily C member 1 (ABCC1 blood group) | Disease-causing germline mutation(s) in | gene with protein product | 158343 |
| PTPRQ | protein tyrosine phosphatase receptor type Q | Disease-causing germline mutation(s) in | gene with protein product | 603317 |
| PLS1 | plastin 1 | Disease-causing germline mutation(s) in | gene with protein product | 602734 |
| MAP1B | microtubule associated protein 1B | Disease-causing germline mutation(s) in | gene with protein product | 157129 |
| DMXL2 | Dmx like 2 | Disease-causing germline mutation(s) in | gene with protein product | 612186 |
| MYO1A | myosin IA | Candidate gene tested in | gene with protein product | 601478 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)