AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical.
Kokkuvõte
- Teised nimetused
- Deep set eye, Deep-set eyes, Sunken eye, Enophthalmos, Ocular depression, Sunken eyes
- Kehasüsteem
- Abnormality of the eye
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/deeply-set-eye.json"
page <- fromJSON(url)
page$trait$nameDeeply set eyeHP:0000490
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Deeply set eye-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test291 geeni on seotud tunnusega Deeply set eye
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Deeply set eye. 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 |
|---|---|---|
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alati | Esineb 1 haiguses |
| ASH1LASH1 like histone lysine methyltransferase | Alati | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Alati | Esineb 1 haiguses |
| BUD13BUD13 spliceosome associated protein | Alati | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| COA3cytochrome c oxidase assembly factor 3 | Alati | Esineb 1 haiguses |
| COX8Acytochrome c oxidase subunit 8A | Alati | Esineb 1 haiguses |
| DCPSdecapping enzyme, scavenger | Alati | Esineb 1 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Alati | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alati | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alati | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alati | Esineb 3 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alati | Esineb 4 haiguses |
| EXOSC2exosome component 2 | Alati | Esineb 1 haiguses |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alati | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 3 haiguses |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alati | Esineb 2 haiguses |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alati | Esineb 1 haiguses |
| IKZF2IKAROS family zinc finger 2 | Alati | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 1 | Alati | Esineb 1 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Alati | Esineb 2 haiguses |
| LIFRLIF receptor subunit alpha | Alati | Esineb 1 haiguses |
| MAD1L1mitotic arrest deficient 1 like 1 | Alati | Esineb 1 haiguses |
| MEIS2Meis homeobox 2 | Alati | Esineb 2 haiguses |
| MYH3myosin heavy chain 3 | Alati | Esineb 2 haiguses |
| PAK1p21 (RAC1) activated kinase 1 | Alati | Esineb 1 haiguses |
| PDCD6IPprogrammed cell death 6 interacting protein | Alati | Esineb 1 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alati | Esineb 2 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Alati | Esineb 1 haiguses |
| PLECplectin | Alati | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Alati | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 2 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 2 haiguses |
Näita veel 251 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 1 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| SPIN4spindlin family member 4 | Alati | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | 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 2 haiguses |
| TBCEtubulin folding cofactor E | Alati | Esineb 2 haiguses |
| TBX15T-box transcription factor 15 | Alati | Esineb 2 haiguses |
| TCF4transcription factor 4 | Alati | Esineb 2 haiguses |
| THOC6THO complex subunit 6 | Alati | Esineb 2 haiguses |
| TPRtranslocated promoter region, nuclear basket protein | Alati | Esineb 1 haiguses |
| TPRKBTP53RK binding protein | Alati | Esineb 1 haiguses |
| UBAP2Lubiquitin associated protein 2 like | Alati | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| YARS1tyrosyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Alati | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHPSdeoxyhypusine synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Väga sageli (80–99%) | Esineb 3 haiguses |
| FMR1fragile X messenger ribonucleoprotein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LAS1LLAS1 like ribosome biogenesis factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDPnorrin cystine knot growth factor NDP | Väga sageli (80–99%) | Esineb 2 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDPNpodoplanin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| POLR3ARNA polymerase III subunit A | Väga sageli (80–99%) | Esineb 3 haiguses |
| PRDM16PR/SET domain 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Väga sageli (80–99%) | Esineb 2 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPENspen family transcriptional repressor | Väga sageli (80–99%) | Esineb 2 haiguses |
| SSR4signal sequence receptor subunit 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STAG1STAG1 cohesin complex component | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBC1D7TBC1 domain family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTBactin beta | Sageli (30–79%) | Esineb 1 haiguses |
| AGO2argonaute RISC catalytic component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| CAMTA1calmodulin binding transcription activator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Sageli (30–79%) | Esineb 2 haiguses |
| CEP57centrosomal protein 57 | Sageli (30–79%) | Esineb 1 haiguses |
| CHN1chimerin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL5A1collagen type V alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COX5Acytochrome c oxidase subunit 5A | Sageli (30–79%) | Esineb 1 haiguses |
| CRKLCRK like proto-oncogene, adaptor protein | Sageli (30–79%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DPH5diphthamide biosynthesis 5 | Sageli (30–79%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Sageli (30–79%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sageli (30–79%) | Esineb 3 haiguses |
| EBF3EBF transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FAM177A1family with sequence similarity 177 member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO31F-box protein 31 | Sageli (30–79%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Sageli (30–79%) | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GLYCTKglycerate kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| GORABgolgin, RAB6 interacting | Sageli (30–79%) | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 2 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HHAThedgehog acyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Sageli (30–79%) | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sageli (30–79%) | Esineb 1 haiguses |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK4potassium two pore domain channel subfamily K member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Sageli (30–79%) | Esineb 2 haiguses |
| KIF7kinesin family member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Sageli (30–79%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Sageli (30–79%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MEF2Cmyocyte enhancer factor 2C | Sageli (30–79%) | Esineb 2 haiguses |
| MSL2MSL complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MYT1Lmyelin transcription factor 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Sageli (30–79%) | Esineb 1 haiguses |
| NGFnerve growth factor | Sageli (30–79%) | Esineb 1 haiguses |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| ODC1ornithine decarboxylase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| OPHN1oligophrenin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PAK3p21 (RAC1) activated kinase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PHF6PHD finger protein 6 | Sageli (30–79%) | Esineb 2 haiguses |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| POU4F1POU class 4 homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRR12proline rich 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PUS7pseudouridine synthase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| RECQLRecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| RNF2ring finger protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SEPHS1selenophosphate synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Sageli (30–79%) | Esineb 2 haiguses |
| SRRM2serine/arginine repetitive matrix 2 | Sageli (30–79%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TBC1D20TBC1 domain family member 20 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 2 haiguses |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| WSB2WD repeat and SOCS box containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Sageli (30–79%) | Esineb 3 haiguses |
| ZNF668zinc finger protein 668 | Sageli (30–79%) | Esineb 1 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKRD17ankyrin repeat domain 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPRIN1cell cycle associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH2cadherin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTBP1C-terminal binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF5Aeukaryotic translation initiation factor 5A | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| FOXF1forkhead box F1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRYLFRY like transcription coactivator | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATAD2BGATA zinc finger domain containing 2B | Mõnikord (5–29%) | Esineb 2 haiguses |
| GJA5gap junction protein alpha 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPKOWG-patch domain and KOW motifs | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMGA2high mobility group AT-hook 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT56intraflagellar transport 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDM5Clysine demethylase 5C | Mõnikord (5–29%) | Esineb 2 haiguses |
| KMT2Blysine methyltransferase 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LEMD3LEM domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12Lmediator complex subunit 12L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MIPEPmitochondrial intermediate peptidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSL3MSL complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOVA2NOVA alternative splicing regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLAAT3phospholipase A and acyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SETBP1SET binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A6solute carrier family 9 member A6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A7solute carrier family 9 member A7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCBtubulin folding cofactor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRIM8tripartite motif containing 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTI2TELO2 interacting protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| WACWW domain containing adaptor with coiled-coil | Mõnikord (5–29%) | Esineb 3 haiguses |
| WASF1WASP family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Harva (1–4%) | Esineb 2 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| UGDHUDP-glucose 6-dehydrogenase | Harva (1–4%) | Esineb 1 haiguses |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Pole registreeritud | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Pole registreeritud | Esineb 1 haiguses |
| ATN1atrophin 1 | Pole registreeritud | Esineb 1 haiguses |
| CENPFcentromere protein F | Pole registreeritud | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Pole registreeritud | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Pole registreeritud | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Pole registreeritud | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Pole registreeritud | Esineb 1 haiguses |
| GSCgoosecoid homeobox | Pole registreeritud | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| KMT2Elysine methyltransferase 2E (inactive) | Pole registreeritud | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Pole registreeritud | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| SEPTIN9septin 9 | Pole registreeritud | Esineb 1 haiguses |
| SLC35A1solute carrier family 35 member A1 | Pole registreeritud | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Pole registreeritud | Esineb 1 haiguses |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| TCF20transcription factor 20 | Pole registreeritud | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Pole registreeritud | Esineb 1 haiguses |
| TMEM94transmembrane protein 94 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Pole registreeritud | Esineb 1 haiguses |
| XRCC4X-ray repair cross complementing 4 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | 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.
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 2026.10.17-8666dff2.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast