Tunnus
Difficulty finding words
Kliiniline nimetus: Aphasia
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Kokkuvõte
- Teised nimetused
- Losing words, Loss of words
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Difficulty finding words. 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 |
|---|---|---|
| ADA2adenosine deaminase 2 | Alati | Esineb 2 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Alati | Esineb 2 haiguses |
| CST3cystatin C | Alati | Esineb 1 haiguses |
| GRNgranulin precursor | Alati | Esineb 4 haiguses |
| HTRA1HtrA serine peptidase 1 | Alati | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 2 haiguses |
| VCPvalosin containing protein | Alati | Esineb 4 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Väga sageli (80–99%) | Esineb 3 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Väga sageli (80–99%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Väga sageli (80–99%) | Esineb 3 haiguses |
| HIRAhistone cell cycle regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| L1CAML1 cell adhesion molecule | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAPTmicrotubule associated protein tau | Väga sageli (80–99%) | Esineb 5 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Väga sageli (80–99%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLECplectin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PSEN1presenilin 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| RAI1retinoic acid induced 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
Näita veel 55 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RREB1ras responsive element binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM106Btransmembrane protein 106B | Väga sageli (80–99%) | Esineb 3 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Väga sageli (80–99%) | Esineb 5 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MICAL1microtubule associated monooxygenase, calponin and LIM domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Sageli (30–79%) | Esineb 1 haiguses |
| RELNreelin | Sageli (30–79%) | Esineb 1 haiguses |
| STSsteroid sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| UBTFupstream binding transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| APPamyloid beta precursor protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 2 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Mõnikord (5–29%) | Esineb 1 haiguses |
| FASFas cell surface death receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Mõnikord (5–29%) | Esineb 2 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPPAnatriuretic peptide A | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1BRNA polymerase I subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSEN2presenilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SORL1sortilin related receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOMM40translocase of outer mitochondrial membrane 40 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Harva (1–4%) | Esineb 1 haiguses |
| CFHcomplement factor H | Pole registreeritud | Esineb 1 haiguses |
| CFHR1complement factor H related 1 | Pole registreeritud | Esineb 1 haiguses |
| CFHR3complement factor H related 3 | Pole registreeritud | Esineb 1 haiguses |
| CYLDCYLD lysine 63 deubiquitinase | Pole registreeritud | Esineb 1 haiguses |
| FLCNfolliculin | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | 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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast