Tunnus
Inability to produce voice sounds
Kliiniline nimetus: Dysphonia
Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
Kokkuvõte
- Teised nimetused
- Voice change
- Kehasüsteem
- Abnormality of the voice
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Inability to produce voice sounds, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test122 geeni on seotud tunnusega Inability to produce voice sounds
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Inability to produce voice sounds. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Alati | Esineb 1 haiguses |
| CD40LGCD40 ligand | Alati | Esineb 1 haiguses |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alati | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Alati | Esineb 2 haiguses |
| ARandrogen receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRYABcrystallin alpha B | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIL1SIL1 nucleotide exchange factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBB4Atubulin beta 4A class IVa | Väga sageli (80–99%) | Esineb 2 haiguses |
| ANGangiogenin | Sageli (30–79%) | Esineb 1 haiguses |
| ANXA11annexin A11 | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCNFcyclin F | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Sageli (30–79%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Sageli (30–79%) | Esineb 1 haiguses |
| CIZ1CDKN1A interacting zinc finger protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COQ2coenzyme Q2, polyprenyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| DAOD-amino acid oxidase | Sageli (30–79%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Sageli (30–79%) | Esineb 2 haiguses |
| DLSTdihydrolipoamide S-succinyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJB2DnaJ heat shock protein family (Hsp40) member B2 | Sageli (30–79%) | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Sageli (30–79%) | Esineb 1 haiguses |
| EPAS1endothelial PAS domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| FHfumarate hydratase | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FTLferritin light chain | Sageli (30–79%) | Esineb 2 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GFAPglial fibrillary acidic protein | Sageli (30–79%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 1 haiguses |
| GLT8D1glycosyltransferase 8 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK9potassium two pore domain channel subfamily K member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Sageli (30–79%) | Esineb 1 haiguses |
| MATR3matrin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MAXMYC associated transcriptional regulator X | Sageli (30–79%) | Esineb 1 haiguses |
| MDH2malate dehydrogenase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MGME1mitochondrial genome maintenance exonuclease 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NEFHneurofilament heavy chain | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 82 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| NEK1NIMA related kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OPTNoptineurin | Sageli (30–79%) | Esineb 1 haiguses |
| PABPN1poly(A) binding protein nuclear 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PFN1profilin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Sageli (30–79%) | Esineb 2 haiguses |
| PRPHperipherin | Sageli (30–79%) | Esineb 1 haiguses |
| RETret proto-oncogene | Sageli (30–79%) | Esineb 2 haiguses |
| RNASEH1ribonuclease H1 | Sageli (30–79%) | Esineb 1 haiguses |
| SBF2SET binding factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sageli (30–79%) | Esineb 2 haiguses |
| SDHCsuccinate dehydrogenase complex subunit C | Sageli (30–79%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A11solute carrier family 25 member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF15TATA-box binding protein associated factor 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM127transmembrane protein 127 | Sageli (30–79%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TTC19tetratricopeptide repeat domain 19 | Sageli (30–79%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Sageli (30–79%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Sageli (30–79%) | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Sageli (30–79%) | Esineb 2 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPN15calpain 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DBR1debranching RNA lariats 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Mõnikord (5–29%) | Esineb 1 haiguses |
| FXNfrataxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2E2general transcription factor IIE subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2H5general transcription factor IIH subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Blysine methyltransferase 2B | Mõnikord (5–29%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFN2mitofusin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEU1neuraminidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX8paired box 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC5A7solute carrier family 5 member 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPEGstriated muscle enriched protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TARS1threonyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPK1thiamin pyrophosphokinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTNtitin | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Mõnikord (5–29%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| EDAectodysplasin A | Pole registreeritud | Esineb 1 haiguses |
| GNALG protein subunit alpha L | Pole registreeritud | Esineb 1 haiguses |
| KCTD17potassium channel tetramerization domain containing 17 | Pole registreeritud | Esineb 1 haiguses |
| PANK2pantothenate kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| PLIN4perilipin 4 | Pole registreeritud | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| THAP1THAP domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast