Tunnus
Large ears
Kliiniline nimetus: Macrotia
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Kokkuvõte
- Teised nimetused
- Large pinnae
- Kehasüsteem
- Abnormality of the ear
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Large ears, and the rest of your genome, with one test.
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Telli oma Genome Test280 geeni on seotud tunnusega Large ears
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Large 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Alati | Esineb 1 haiguses |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alati | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Alati | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alati | Esineb 1 haiguses |
| CITcitron rho-interacting serine/threonine kinase | Alati | Esineb 1 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alati | Esineb 1 haiguses |
| DENND5ADENN domain containing 5A | Alati | Esineb 1 haiguses |
| EEDembryonic ectoderm development | Alati | Esineb 1 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alati | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alati | Esineb 2 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alati | Esineb 2 haiguses |
| IKZF2IKAROS family zinc finger 2 | Alati | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Alati | Esineb 2 haiguses |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alati | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Alati | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Alati | Esineb 2 haiguses |
| NBNnibrin | Alati | Esineb 2 haiguses |
| NEXMIFneurite extension and migration factor | Alati | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Alati | Esineb 2 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alati | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Alati | Esineb 2 haiguses |
| QRICH1glutamine rich 1 | Alati | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Alati | Esineb 3 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 2 haiguses |
| RBMXRNA binding motif protein X-linked | Alati | Esineb 3 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| SLC6A17solute carrier family 6 member 17 | Alati | Esineb 2 haiguses |
| SUOXsulfite oxidase | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alati | Esineb 1 haiguses |
| TBC1D23TBC1 domain family member 23 | Alati | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| ZNF668zinc finger protein 668 | Alati | Esineb 1 haiguses |
Näita veel 240 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AIPAHR interacting HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRWD3bromodomain and WD repeat domain containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CWC27CWC27 spliceosome associated cyclophilin | Väga sageli (80–99%) | Esineb 2 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPR101G protein-coupled receptor 101 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HHAThedgehog acyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Väga sageli (80–99%) | Esineb 3 haiguses |
| KMT2Dlysine methyltransferase 2D | Väga sageli (80–99%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Väga sageli (80–99%) | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SSR4signal sequence receptor subunit 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBX22T-box transcription factor 22 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNF526zinc finger protein 526 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADAMTSL1ADAMTS like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AEBP1AE binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| AKT1AKT serine/threonine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AMOTL1angiomotin like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 2 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Sageli (30–79%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Sageli (30–79%) | Esineb 2 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 2 haiguses |
| CENPEcentromere protein E | Sageli (30–79%) | Esineb 1 haiguses |
| CHD8chromodomain helicase DNA binding protein 8 | Sageli (30–79%) | Esineb 1 haiguses |
| CLIC2CLIC family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CPEcarboxypeptidase E | Sageli (30–79%) | Esineb 1 haiguses |
| CTU2cytosolic thiouridylase subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DDB1damage specific DNA binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GON7GON7 subunit of KEOPS complex | Sageli (30–79%) | Esineb 1 haiguses |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| LAGE3L antigen family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MID2midline 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 2 haiguses |
| NUP107nucleoporin 107 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP133nucleoporin 133 | Sageli (30–79%) | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| OTUD7AOTU deubiquitinase 7A | Sageli (30–79%) | Esineb 1 haiguses |
| PAK3p21 (RAC1) activated kinase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Sageli (30–79%) | Esineb 3 haiguses |
| PTCH1patched 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Sageli (30–79%) | Esineb 2 haiguses |
| RPL10ribosomal protein L10 | Sageli (30–79%) | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Sageli (30–79%) | Esineb 2 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| STEEP1STING1 ER exit protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Sageli (30–79%) | Esineb 1 haiguses |
| TOE1target of EGR1, exonuclease | Sageli (30–79%) | Esineb 2 haiguses |
| TP53RKTP53 regulating kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TPRKBTP53RK binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Sageli (30–79%) | Esineb 2 haiguses |
| WSB2WD repeat and SOCS box containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| YME1L1YME1 like 1 ATPase | Sageli (30–79%) | Esineb 1 haiguses |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ZNF711ZFX family zinc finger ZNF711 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHSGalpha 2-HS glycoprotein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG3component of oligomeric golgi complex 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Mõnikord (5–29%) | Esineb 3 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Mõnikord (5–29%) | Esineb 3 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| GLB1galactosidase beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 2 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGB6integrin subunit beta 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM4Blysine demethylase 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMBRD2LMBR1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LSSlanosterol synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS1phosphofurin acidic cluster sorting protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PLCH1phospholipase C eta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 2 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| RDH11retinol dehydrogenase 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC4A10solute carrier family 4 member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMG8SMG8 nonsense mediated mRNA decay factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNAP29synaptosome associated protein 29 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX6SRY-box transcription factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| THOC2THO complex subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTI2TELO2 interacting protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Harva (1–4%) | Esineb 1 haiguses |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Pole registreeritud | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Pole registreeritud | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Pole registreeritud | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Pole registreeritud | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Pole registreeritud | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Pole registreeritud | Esineb 1 haiguses |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Pole registreeritud | Esineb 1 haiguses |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Pole registreeritud | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| ITGA3integrin subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Pole registreeritud | Esineb 1 haiguses |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Pole registreeritud | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Pole registreeritud | Esineb 1 haiguses |
| MGPmatrix Gla protein | Pole registreeritud | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Pole registreeritud | Esineb 1 haiguses |
| MPLKIPM-phase specific PLK1 interacting protein | Pole registreeritud | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Pole registreeritud | Esineb 1 haiguses |
| NHSNHS actin remodeling regulator | Pole registreeritud | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Pole registreeritud | Esineb 1 haiguses |
| PCLOpiccolo presynaptic cytomatrix protein | Pole registreeritud | Esineb 1 haiguses |
| PHF6PHD finger protein 6 | Pole registreeritud | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| PRDX1peroxiredoxin 1 | Pole registreeritud | Esineb 1 haiguses |
| PRUNE1prune exopolyphosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Pole registreeritud | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Pole registreeritud | Esineb 1 haiguses |
| SETSET nuclear proto-oncogene | Pole registreeritud | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Pole registreeritud | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Pole registreeritud | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TENM3teneurin transmembrane protein 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