Tunnus
Short neck
Diminished length of the neck.
Kokkuvõte
- Teised nimetused
- Decreased length of neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Short neck, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test414 geeni on seotud tunnusega Short neck
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short neck. 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 |
|---|---|---|
| ACANaggrecan | Alati | Esineb 2 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alati | Esineb 3 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Alati | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 5 haiguses |
| BRF1BRF1 general transcription factor IIIB subunit | Alati | Esineb 2 haiguses |
| COG1component of oligomeric golgi complex 1 | Alati | Esineb 2 haiguses |
| COG7component of oligomeric golgi complex 7 | Alati | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 7 haiguses |
| CUL7cullin 7 | Alati | Esineb 2 haiguses |
| DDRGK1DDRGK domain containing 1 | Alati | Esineb 2 haiguses |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alati | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Alati | Esineb 2 haiguses |
| DYMdymeclin | Alati | Esineb 3 haiguses |
| ECEL1endothelin converting enzyme like 1 | Alati | Esineb 1 haiguses |
| FANCIFA complementation group I | Alati | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alati | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 1 haiguses |
| FHL1four and a half LIM domains 1 | Alati | Esineb 3 haiguses |
| FLNAfilamin A | Alati | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alati | Esineb 1 haiguses |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alati | Esineb 1 haiguses |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Alati | Esineb 1 haiguses |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Alati | Esineb 1 haiguses |
| HYAL2hyaluronidase 2 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| IGBP1immunoglobulin binding protein 1 | Alati | Esineb 2 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Alati | Esineb 1 haiguses |
| INTUinturned planar cell polarity protein | Alati | Esineb 2 haiguses |
| KIF7kinesin family member 7 | Alati | Esineb 1 haiguses |
| LAMA5laminin subunit alpha 5 | Alati | Esineb 1 haiguses |
| MRPL12mitochondrial ribosomal protein L12 | Alati | Esineb 1 haiguses |
| MRPS28mitochondrial ribosomal protein S28 | Alati | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Alati | Esineb 5 haiguses |
| NEK9NIMA related kinase 9 | Alati | Esineb 1 haiguses |
| NKX3-2NK3 homeobox 2 | Alati | Esineb 1 haiguses |
| NLRP1NLR family pyrin domain containing 1 | Alati | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Alati | Esineb 1 haiguses |
| NUP188nucleoporin 188 | Alati | Esineb 1 haiguses |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alati | Esineb 1 haiguses |
Näita veel 374 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Alati | Esineb 1 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Alati | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 2 haiguses |
| RAB33BRAB33B, member RAS oncogene family | Alati | Esineb 1 haiguses |
| RAB5IFRAB5 interacting factor | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 2 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Alati | Esineb 2 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Alati | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Alati | Esineb 1 haiguses |
| TBX15T-box transcription factor 15 | Alati | Esineb 2 haiguses |
| TBX5T-box transcription factor 5 | Alati | Esineb 1 haiguses |
| TECPR2tectonin beta-propeller repeat containing 2 | Alati | Esineb 2 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Alati | Esineb 1 haiguses |
| TOR1Atorsin family 1 member A | Alati | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Alati | Esineb 2 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alati | Esineb 4 haiguses |
| TXNDC15thioredoxin domain containing 15 | Alati | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Alati | Esineb 1 haiguses |
| ANTXR2ANTXR cell adhesion molecule 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| BMPERBMP binding endothelial regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Väga sageli (80–99%) | Esineb 2 haiguses |
| CD96CD96 molecule | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL11A2collagen type XI alpha 2 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| DLL3delta like canonical Notch ligand 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| GDF3growth differentiation factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HES7hes family bHLH transcription factor 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HNF1BHNF1 homeobox B | Väga sageli (80–99%) | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| IDUAalpha-L-iduronidase | Väga sageli (80–99%) | Esineb 3 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 4 haiguses |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEOX1mesenchyme homeobox 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MESP2mesoderm posterior bHLH transcription factor 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| NALCNsodium leak channel, non-selective | Väga sageli (80–99%) | Esineb 3 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| NBNnibrin | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Väga sageli (80–99%) | Esineb 2 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PTCH1patched 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIPPLY2ripply transcriptional repressor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 2 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Väga sageli (80–99%) | Esineb 2 haiguses |
| RSPRY1ring finger and SPRY domain containing 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SHOXSHOX homeobox | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SLC35D1solute carrier family 35 member D1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBC1D7TBC1 domain family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBR1T-box brain transcription factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBX6T-box transcription factor 6 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TCF4transcription factor 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Väga sageli (80–99%) | Esineb 2 haiguses |
| WNT4Wnt family member 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| XYLT1xylosyltransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| XYLT2xylosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Sageli (30–79%) | Esineb 2 haiguses |
| ACTBactin beta | Sageli (30–79%) | Esineb 2 haiguses |
| ACTG1actin gamma 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 2 haiguses |
| ARVCFARVCF delta catenin family member | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sageli (30–79%) | Esineb 2 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Sageli (30–79%) | Esineb 2 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sageli (30–79%) | Esineb 1 haiguses |
| CLDN11claudin 11 | Sageli (30–79%) | Esineb 1 haiguses |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COG8component of oligomeric golgi complex 8 | Sageli (30–79%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL6A2collagen type VI alpha 2 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COL6A3collagen type VI alpha 3 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| CTNND2catenin delta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DCCDCC netrin 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EMDemerin | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Sageli (30–79%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Sageli (30–79%) | Esineb 1 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 2 haiguses |
| GNASGNAS complex locus | Sageli (30–79%) | Esineb 6 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sageli (30–79%) | Esineb 1 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| GPC3glypican 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GPKOWG-patch domain and KOW motifs | Sageli (30–79%) | Esineb 1 haiguses |
| GUSBglucuronidase beta | Sageli (30–79%) | Esineb 2 haiguses |
| HBA1hemoglobin subunit alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HBA2hemoglobin subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sageli (30–79%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 3 haiguses |
| INTS1integrator complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 4 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| NOTCH3notch receptor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP88nucleoporin 88 | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sageli (30–79%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sageli (30–79%) | Esineb 2 haiguses |
| PKDCCprotein kinase domain containing, cytoplasmic | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sageli (30–79%) | Esineb 2 haiguses |
| PUF60poly(U) binding splicing factor 60 | Sageli (30–79%) | Esineb 3 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 2 haiguses |
| RB1RB transcriptional corepressor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RDH11retinol dehydrogenase 11 | Sageli (30–79%) | Esineb 1 haiguses |
| RFT1RFT1 glycolipid translocator homolog | Sageli (30–79%) | Esineb 1 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ROBO3roundabout guidance receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| RREB1ras responsive element binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SEC24CSEC24 homolog C, COPII component | Sageli (30–79%) | Esineb 1 haiguses |
| SEMA5Asemaphorin 5A | Sageli (30–79%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sageli (30–79%) | Esineb 1 haiguses |
| SMSspermine synthase | Sageli (30–79%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Sageli (30–79%) | Esineb 2 haiguses |
| STX16syntaxin 16 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TNNI2troponin I2, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TNNT3troponin T3, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TRAF7TNF receptor associated factor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC2trafficking protein particle complex subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Sageli (30–79%) | Esineb 2 haiguses |
| TUBBtubulin beta class I | Sageli (30–79%) | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Sageli (30–79%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Sageli (30–79%) | Esineb 2 haiguses |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Sageli (30–79%) | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADA2adenosine deaminase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | 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 |
| 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 |
| BRPF1bromodomain and PHD finger containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACHD1cache domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | 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 |
| CFL2cofilin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHN1chimerin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG5component of oligomeric golgi complex 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ERMARDER membrane associated RNA degradation | Mõnikord (5–29%) | Esineb 1 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FANCLFA complementation group L | Mõnikord (5–29%) | Esineb 1 haiguses |
| FILIP1filamin A interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNBfilamin B | Mõnikord (5–29%) | Esineb 4 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA1GATA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEATR3HEAT repeat containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Mõnikord (5–29%) | Esineb 1 haiguses |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | 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 |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF26Akinesin family member 26A | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMOD3leiomodin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAB21L1mab-21 like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MADDMAP kinase activating death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAFBMAF bZIP transcription factor B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 2 haiguses |
| MEGF8multiple EGF like domains 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MICU1mitochondrial calcium uptake 1 | 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 2 haiguses |
| MSL3MSL complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYL11myosin light chain 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEBnebulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLAAT3phospholipase A and acyltransferase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLXNA1plexin A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL11ribosomal protein L11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL15ribosomal protein L15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL18ribosomal protein L18 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL26ribosomal protein L26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL27ribosomal protein L27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL31ribosomal protein L31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35ribosomal protein L35 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL35Aribosomal protein L35a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL5ribosomal protein L5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL8ribosomal protein L8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL9ribosomal protein L9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS10ribosomal protein S10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS15Aribosomal protein S15a | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS19ribosomal protein S19 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPS20ribosomal protein S20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS24ribosomal protein S24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS26ribosomal protein S26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS27ribosomal protein S27 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS28ribosomal protein S28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS29ribosomal protein S29 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS7ribosomal protein S7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL4spalt like transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 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 |
| SETD5SET domain containing 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRRM2serine/arginine repetitive matrix 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| TBX2T-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGDSTDP-glucose 4,6-dehydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Mõnikord (5–29%) | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Mõnikord (5–29%) | Esineb 2 haiguses |
| WWOXWW domain containing oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FN1fibronectin 1 | Harva (1–4%) | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SMPD4sphingomyelin phosphodiesterase 4 | Harva (1–4%) | Esineb 1 haiguses |
| AEBP1AE binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Pole registreeritud | Esineb 1 haiguses |
| ALDOAaldolase, fructose-bisphosphate A | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Pole registreeritud | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Pole registreeritud | Esineb 1 haiguses |
| CDK5cyclin dependent kinase 5 | Pole registreeritud | Esineb 1 haiguses |
| CEP55centrosomal protein 55 | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 2 haiguses |
| CRLF1cytokine receptor like factor 1 | Pole registreeritud | Esineb 1 haiguses |
| DOK7docking protein 7 | Pole registreeritud | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Pole registreeritud | Esineb 1 haiguses |
| EFNB1ephrin B1 | Pole registreeritud | Esineb 1 haiguses |
| EXOC6Bexocyst complex component 6B | Pole registreeritud | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Pole registreeritud | Esineb 1 haiguses |
| FBN2fibrillin 2 | Pole registreeritud | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| GPC6glypican 6 | Pole registreeritud | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Pole registreeritud | Esineb 1 haiguses |
| HSPA9heat shock protein family A (Hsp70) member 9 | Pole registreeritud | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Pole registreeritud | Esineb 1 haiguses |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Pole registreeritud | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Pole registreeritud | Esineb 1 haiguses |
| MYO18Bmyosin XVIIIB | Pole registreeritud | Esineb 1 haiguses |
| NANSN-acetylneuraminate synthase | Pole registreeritud | Esineb 1 haiguses |
| NF1neurofibromin 1 | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 2 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Pole registreeritud | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Pole registreeritud | Esineb 1 haiguses |
| SPRED1sprouty related EVH1 domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TFAP2Atranscription factor AP-2 alpha | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | Pole registreeritud | Esineb 2 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast