Požymis
Short neck
Diminished length of the neck.
Santrauka
- Taip pat vadinama
- Decreased length of neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Short neck, and the rest of your genome, with one test.
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Įsigyti savo Genome Test414 genų susiję su Short neck
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short neck. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACANaggrecan | Visada | 2 ligose |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Visada | 3 ligose |
| AMMECR1AMMECR nuclear protein 1 | Visada | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 5 ligose |
| BRF1BRF1 general transcription factor IIIB subunit | Visada | 2 ligose |
| COG1component of oligomeric golgi complex 1 | Visada | 2 ligose |
| COG7component of oligomeric golgi complex 7 | Visada | 2 ligose |
| COL2A1collagen type II alpha 1 chain | Visada | 7 ligose |
| CUL7cullin 7 | Visada | 2 ligose |
| DDRGK1DDRGK domain containing 1 | Visada | 2 ligose |
| DMRT2doublesex and mab-3 related transcription factor 2 | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 2 ligose |
| DYMdymeclin | Visada | 3 ligose |
| ECEL1endothelin converting enzyme like 1 | Visada | 1 ligoje |
| FANCIFA complementation group I | Visada | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Visada | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Visada | 1 ligoje |
| FHL1four and a half LIM domains 1 | Visada | 3 ligose |
| FLNAfilamin A | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Visada | 1 ligoje |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Visada | 1 ligoje |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Visada | 1 ligoje |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Visada | 1 ligoje |
| HYAL2hyaluronidase 2 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| IGBP1immunoglobulin binding protein 1 | Visada | 2 ligose |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| INTUinturned planar cell polarity protein | Visada | 2 ligose |
| KIF7kinesin family member 7 | Visada | 1 ligoje |
| LAMA5laminin subunit alpha 5 | Visada | 1 ligoje |
| MRPL12mitochondrial ribosomal protein L12 | Visada | 1 ligoje |
| MRPS28mitochondrial ribosomal protein S28 | Visada | 1 ligoje |
| MYH3myosin heavy chain 3 | Visada | 5 ligose |
| NEK9NIMA related kinase 9 | Visada | 1 ligoje |
| NKX3-2NK3 homeobox 2 | Visada | 1 ligoje |
| NLRP1NLR family pyrin domain containing 1 | Visada | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Visada | 1 ligoje |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Visada | 1 ligoje |
Rodyti dar 374 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Visada | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 2 ligose |
| RAB33BRAB33B, member RAS oncogene family | Visada | 1 ligoje |
| RAB5IFRAB5 interacting factor | Visada | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 2 ligose |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Visada | 2 ligose |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Visada | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Visada | 1 ligoje |
| TBX15T-box transcription factor 15 | Visada | 2 ligose |
| TBX5T-box transcription factor 5 | Visada | 1 ligoje |
| TECPR2tectonin beta-propeller repeat containing 2 | Visada | 2 ligose |
| TIMM50translocase of inner mitochondrial membrane 50 | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Visada | 2 ligose |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Visada | 4 ligose |
| TXNDC15thioredoxin domain containing 15 | Visada | 1 ligoje |
| WDR35WD repeat domain 35 | Visada | 1 ligoje |
| ANTXR2ANTXR cell adhesion molecule 2 | Labai dažnai (80–99%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| BMPERBMP binding endothelial regulator | Labai dažnai (80–99%) | 2 ligose |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Labai dažnai (80–99%) | 2 ligose |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Labai dažnai (80–99%) | 2 ligose |
| CD96CD96 molecule | Labai dažnai (80–99%) | 1 ligoje |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL11A2collagen type XI alpha 2 chain | Labai dažnai (80–99%) | 2 ligose |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CUL4Bcullin 4B | Labai dažnai (80–99%) | 1 ligoje |
| DLL3delta like canonical Notch ligand 3 | Labai dažnai (80–99%) | 2 ligose |
| FAM20CFAM20C golgi associated secretory pathway kinase | Labai dažnai (80–99%) | 2 ligose |
| GDF3growth differentiation factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Labai dažnai (80–99%) | 2 ligose |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 2 ligose |
| HES7hes family bHLH transcription factor 7 | Labai dažnai (80–99%) | 2 ligose |
| HNF1BHNF1 homeobox B | Labai dažnai (80–99%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 2 ligose |
| IDUAalpha-L-iduronidase | Labai dažnai (80–99%) | 3 ligose |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 4 ligose |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| LHX3LIM homeobox 3 | Labai dažnai (80–99%) | 3 ligose |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 1 ligoje |
| MEOX1mesenchyme homeobox 1 | Labai dažnai (80–99%) | 2 ligose |
| MESP2mesoderm posterior bHLH transcription factor 2 | Labai dažnai (80–99%) | 3 ligose |
| NALCNsodium leak channel, non-selective | Labai dažnai (80–99%) | 3 ligose |
| NBASNBAS subunit of NRZ tethering complex | Labai dažnai (80–99%) | 1 ligoje |
| NBNnibrin | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 2 ligose |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Labai dažnai (80–99%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Labai dažnai (80–99%) | 2 ligose |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Labai dažnai (80–99%) | 2 ligose |
| PSAT1phosphoserine aminotransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| PTCH1patched 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 1 ligoje |
| RIPPLY2ripply transcriptional repressor 2 | Labai dažnai (80–99%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Labai dažnai (80–99%) | 2 ligose |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 2 ligose |
| RSPRY1ring finger and SPRY domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| SCYL2SCY1 like pseudokinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SHOXSHOX homeobox | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 3 ligose |
| SLC35D1solute carrier family 35 member D1 | Labai dažnai (80–99%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 2 ligose |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 2 ligose |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D7TBC1 domain family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Labai dažnai (80–99%) | 2 ligose |
| TBR1T-box brain transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TBX6T-box transcription factor 6 | Labai dažnai (80–99%) | 3 ligose |
| TCF4transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| TMCO1transmembrane and coiled-coil domains 1 | Labai dažnai (80–99%) | 2 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Labai dažnai (80–99%) | 2 ligose |
| WNT4Wnt family member 4 | Labai dažnai (80–99%) | 2 ligose |
| XYLT1xylosyltransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| XYLT2xylosyltransferase 2 | Labai dažnai (80–99%) | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Dažnai (30–79%) | 2 ligose |
| ACTBactin beta | Dažnai (30–79%) | 2 ligose |
| ACTG1actin gamma 1 | Dažnai (30–79%) | 2 ligose |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Dažnai (30–79%) | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Dažnai (30–79%) | 2 ligose |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 2 ligose |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 2 ligose |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Dažnai (30–79%) | 1 ligoje |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 1 ligoje |
| CLDN11claudin 11 | Dažnai (30–79%) | 1 ligoje |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Dažnai (30–79%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Dažnai (30–79%) | 2 ligose |
| COL6A3collagen type VI alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| CTNND2catenin delta 2 | Dažnai (30–79%) | 1 ligoje |
| DCCDCC netrin 1 receptor | Dažnai (30–79%) | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Dažnai (30–79%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Dažnai (30–79%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 1 ligoje |
| EMDemerin | Dažnai (30–79%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Dažnai (30–79%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 1 ligoje |
| FANCBFA complementation group B | Dažnai (30–79%) | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| GATA4GATA binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 2 ligose |
| GNASGNAS complex locus | Dažnai (30–79%) | 6 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Dažnai (30–79%) | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Dažnai (30–79%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| GPKOWG-patch domain and KOW motifs | Dažnai (30–79%) | 1 ligoje |
| GUSBglucuronidase beta | Dažnai (30–79%) | 2 ligose |
| HBA1hemoglobin subunit alpha 1 | Dažnai (30–79%) | 1 ligoje |
| HBA2hemoglobin subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 3 ligose |
| INTS1integrator complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Dažnai (30–79%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Dažnai (30–79%) | 2 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Dažnai (30–79%) | 4 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Dažnai (30–79%) | 2 ligose |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Dažnai (30–79%) | 1 ligoje |
| NOTCH2notch receptor 2 | Dažnai (30–79%) | 2 ligose |
| NOTCH3notch receptor 3 | Dažnai (30–79%) | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Dažnai (30–79%) | 1 ligoje |
| NUP88nucleoporin 88 | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Dažnai (30–79%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Dažnai (30–79%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Dažnai (30–79%) | 2 ligose |
| PKDCCprotein kinase domain containing, cytoplasmic | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Dažnai (30–79%) | 2 ligose |
| PUF60poly(U) binding splicing factor 60 | Dažnai (30–79%) | 3 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Dažnai (30–79%) | 2 ligose |
| RB1RB transcriptional corepressor 1 | Dažnai (30–79%) | 1 ligoje |
| RDH11retinol dehydrogenase 11 | Dažnai (30–79%) | 1 ligoje |
| RFT1RFT1 glycolipid translocator homolog | Dažnai (30–79%) | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Dažnai (30–79%) | 1 ligoje |
| ROBO3roundabout guidance receptor 3 | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 2 ligose |
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 1 ligoje |
| RYR1ryanodine receptor 1 | Dažnai (30–79%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SEMA5Asemaphorin 5A | Dažnai (30–79%) | 1 ligoje |
| SETBP1SET binding protein 1 | Dažnai (30–79%) | 2 ligose |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Dažnai (30–79%) | 1 ligoje |
| SMSspermine synthase | Dažnai (30–79%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Dažnai (30–79%) | 2 ligose |
| STX16syntaxin 16 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TNNI2troponin I2, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 2 ligose |
| TRAF7TNF receptor associated factor 7 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC2trafficking protein particle complex subunit 2 | Dažnai (30–79%) | 2 ligose |
| TRAPPC9trafficking protein particle complex subunit 9 | Dažnai (30–79%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Dažnai (30–79%) | 2 ligose |
| TUBBtubulin beta class I | Dažnai (30–79%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Dažnai (30–79%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| WNT7AWnt family member 7A | Dažnai (30–79%) | 2 ligose |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Dažnai (30–79%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 1 ligoje |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Kartais (5–29%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Kartais (5–29%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Kartais (5–29%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Kartais (5–29%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Kartais (5–29%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Kartais (5–29%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Kartais (5–29%) | 1 ligoje |
| BRPF1bromodomain and PHD finger containing 1 | Kartais (5–29%) | 1 ligoje |
| CACHD1cache domain containing 1 | Kartais (5–29%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Kartais (5–29%) | 1 ligoje |
| CEP19centrosomal protein 19 | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Kartais (5–29%) | 1 ligoje |
| CFL2cofilin 2 | Kartais (5–29%) | 1 ligoje |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| COG5component of oligomeric golgi complex 5 | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Kartais (5–29%) | 3 ligose |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 2 ligose |
| ERMARDER membrane associated RNA degradation | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 2 ligose |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| FLNBfilamin B | Kartais (5–29%) | 4 ligose |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Kartais (5–29%) | 1 ligoje |
| GATA1GATA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Kartais (5–29%) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Kartais (5–29%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Kartais (5–29%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIF26Akinesin family member 26A | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LHX4LIM homeobox 4 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Kartais (5–29%) | 1 ligoje |
| MAB21L1mab-21 like 1 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAN1B1mannosidase alpha class 1B member 1 | Kartais (5–29%) | 2 ligose |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 2 ligose |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MICU1mitochondrial calcium uptake 1 | Kartais (5–29%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 2 ligose |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| MYL11myosin light chain 11 | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 1 ligoje |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| PLXNA1plexin A1 | Kartais (5–29%) | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Kartais (5–29%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RPL11ribosomal protein L11 | Kartais (5–29%) | 1 ligoje |
| RPL15ribosomal protein L15 | Kartais (5–29%) | 1 ligoje |
| RPL18ribosomal protein L18 | Kartais (5–29%) | 1 ligoje |
| RPL26ribosomal protein L26 | Kartais (5–29%) | 1 ligoje |
| RPL27ribosomal protein L27 | Kartais (5–29%) | 1 ligoje |
| RPL31ribosomal protein L31 | Kartais (5–29%) | 1 ligoje |
| RPL35ribosomal protein L35 | Kartais (5–29%) | 1 ligoje |
| RPL35Aribosomal protein L35a | Kartais (5–29%) | 1 ligoje |
| RPL5ribosomal protein L5 | Kartais (5–29%) | 1 ligoje |
| RPL8ribosomal protein L8 | Kartais (5–29%) | 1 ligoje |
| RPL9ribosomal protein L9 | Kartais (5–29%) | 1 ligoje |
| RPS10ribosomal protein S10 | Kartais (5–29%) | 1 ligoje |
| RPS15Aribosomal protein S15a | Kartais (5–29%) | 1 ligoje |
| RPS17ribosomal protein S17 | Kartais (5–29%) | 1 ligoje |
| RPS19ribosomal protein S19 | Kartais (5–29%) | 2 ligose |
| RPS20ribosomal protein S20 | Kartais (5–29%) | 1 ligoje |
| RPS24ribosomal protein S24 | Kartais (5–29%) | 1 ligoje |
| RPS26ribosomal protein S26 | Kartais (5–29%) | 1 ligoje |
| RPS27ribosomal protein S27 | Kartais (5–29%) | 1 ligoje |
| RPS28ribosomal protein S28 | Kartais (5–29%) | 1 ligoje |
| RPS29ribosomal protein S29 | Kartais (5–29%) | 1 ligoje |
| RPS7ribosomal protein S7 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Kartais (5–29%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Kartais (5–29%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Kartais (5–29%) | 1 ligoje |
| SETD5SET domain containing 5 | Kartais (5–29%) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SRRM2serine/arginine repetitive matrix 2 | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 2 ligose |
| TBX2T-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| TCTN2tectonic family member 2 | Kartais (5–29%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Kartais (5–29%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Kartais (5–29%) | 1 ligoje |
| WNT5AWnt family member 5A | Kartais (5–29%) | 2 ligose |
| WWOXWW domain containing oxidoreductase | Kartais (5–29%) | 1 ligoje |
| FN1fibronectin 1 | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Retai (1–4 %) | 1 ligoje |
| AEBP1AE binding protein 1 | Neužfiksuota | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Neužfiksuota | 1 ligoje |
| ALDOAaldolase, fructose-bisphosphate A | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Neužfiksuota | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| CDK5cyclin dependent kinase 5 | Neužfiksuota | 1 ligoje |
| CEP55centrosomal protein 55 | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 2 ligose |
| CRLF1cytokine receptor like factor 1 | Neužfiksuota | 1 ligoje |
| DOK7docking protein 7 | Neužfiksuota | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Neužfiksuota | 1 ligoje |
| EFNB1ephrin B1 | Neužfiksuota | 1 ligoje |
| EXOC6Bexocyst complex component 6B | Neužfiksuota | 1 ligoje |
| EXOSC9exosome component 9 | Neužfiksuota | 1 ligoje |
| FBN2fibrillin 2 | Neužfiksuota | 1 ligoje |
| GLB1galactosidase beta 1 | Neužfiksuota | 1 ligoje |
| GPC6glypican 6 | Neužfiksuota | 1 ligoje |
| GPX4glutathione peroxidase 4 | Neužfiksuota | 1 ligoje |
| HSPA9heat shock protein family A (Hsp70) member 9 | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| KIFBPkinesin family binding protein | Neužfiksuota | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Neužfiksuota | 1 ligoje |
| LIFRLIF receptor subunit alpha | Neužfiksuota | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| MYO18Bmyosin XVIIIB | Neužfiksuota | 1 ligoje |
| NANSN-acetylneuraminate synthase | Neužfiksuota | 1 ligoje |
| NF1neurofibromin 1 | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 2 ligose |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Neužfiksuota | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| SMAD4SMAD family member 4 | Neužfiksuota | 1 ligoje |
| SPRED1sprouty related EVH1 domain containing 1 | Neužfiksuota | 1 ligoje |
| TALDO1transaldolase 1 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Neužfiksuota | 1 ligoje |
| UNC80unc-80 subunit of NALCN channel complex | Neužfiksuota | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 2 ligose |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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