Tunnus
Overfolded ears
Kliiniline nimetus: Overfolded helix
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Kokkuvõte
- Teised nimetused
- Over-folded helices, Overfolded helices
- Kehasüsteem
- Abnormality of the ear
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Overfolded ears, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test88 geeni on seotud tunnusega Overfolded ears
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Overfolded ears. 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 |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alati | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Alati | Esineb 1 haiguses |
| HOXA2homeobox A2 | Alati | Esineb 1 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| NFIAnuclear factor I A | Alati | Esineb 1 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alati | Esineb 1 haiguses |
| TCF3transcription factor 3 | Alati | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Alati | Esineb 1 haiguses |
| VPS51VPS51 subunit of GARP complex | Alati | Esineb 1 haiguses |
| ZSCAN10zinc finger and SCAN domain containing 10 | Alati | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Sageli (30–79%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| CLIC2CLIC family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| CSNK2A1casein kinase 2 alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DDX6DEAD-box helicase 6 | Sageli (30–79%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Sageli (30–79%) | Esineb 2 haiguses |
| FREM1FRAS1 related extracellular matrix 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GON4Lgon-4 like | Sageli (30–79%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Sageli (30–79%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 2 haiguses |
| JMJD1Cjumonji domain containing 1C | Sageli (30–79%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Sageli (30–79%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sageli (30–79%) | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS23ribosomal protein S23 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 48 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RREB1ras responsive element binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCARF2scavenger receptor class F member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TASP1taspase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBBtubulin beta class I | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTBactin beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL2ASXL transcriptional regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BHLHA9basic helix-loop-helix family member a9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK13cyclin dependent kinase 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERFETS2 repressor factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HYAL2hyaluronidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS1asparaginyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGM2L1phosphoglucomutase 2 like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 2 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX2T-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYND11zinc finger MYND-type containing 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGO2argonaute RISC catalytic component 2 | Harva (1–4%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Harva (1–4%) | Esineb 1 haiguses |
| ZNF462zinc finger protein 462 | Harva (1–4%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Pole registreeritud | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Pole registreeritud | Esineb 1 haiguses |
| BCORBCL6 corepressor | Pole registreeritud | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | 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