Tunnus
Brain imaging abnormality
An anomaly of metabolism or structure of the brain identified by imaging.
Kokkuvõte
- Teised nimetused
- Abnormal brain imaging
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Brain imaging abnormality, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test72 geeni on seotud tunnusega Brain imaging abnormality
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Brain imaging abnormality. 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 |
|---|---|---|
| CDC42cell division cycle 42 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DEAF1DEAF1 transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Väga sageli (80–99%) | Esineb 2 haiguses |
| SIN3ASIN3 transcription regulator family member A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIN3BSIN3 transcription regulator family member B | Väga sageli (80–99%) | Esineb 1 haiguses |
| USP7ubiquitin specific peptidase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Sageli (30–79%) | Esineb 1 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BTDbiotinidase | Sageli (30–79%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 1 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| FOXP1forkhead box P1 | Sageli (30–79%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Clysine methyltransferase 2C | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 1 haiguses |
| MTHFRmethylenetetrahydrofolate reductase | Sageli (30–79%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NIPA1NIPA magnesium transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NIPA2NIPA magnesium transporter 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDP1pyruvate dehydrogenase phosphatase catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PRNPprion protein (Kanno blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Sageli (30–79%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SH2B1SH2B adaptor protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBG1tubulin gamma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP10AATPase phospholipid transporting 10A (putative) | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 32 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CHD2chromodomain helicase DNA binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL25A1collagen type XXV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMBShydroxymethylbilane synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC6A1solute carrier family 6 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRED1sprouty related EVH1 domain containing 1 | Harva (1–4%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Pole registreeritud | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Pole registreeritud | Esineb 1 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Pole registreeritud | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Pole registreeritud | Esineb 1 haiguses |
| MICAL1microtubule associated monooxygenase, calponin and LIM domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Pole registreeritud | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Pole registreeritud | Esineb 1 haiguses |
| RELNreelin | Pole registreeritud | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Pole registreeritud | Esineb 2 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Pole registreeritud | Esineb 1 haiguses |
| SLC1A3solute carrier family 1 member 3 | 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