Požymis
Long philtrum
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Santrauka
- Taip pat vadinama
- Elongated philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum, Vertical hyperplasia of philtrum
- Kūno sistema
- Abnormality of head or neck
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Long philtrum, and the rest of your genome, with one test.
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Įsigyti savo Genome Test460 genų susiję su Long philtrum
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Long philtrum. 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Visada | 1 ligoje |
| ANKRD11ankyrin repeat domain 11 | Visada | 3 ligose |
| ANTXR1ANTXR cell adhesion molecule 1 | Visada | 2 ligose |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Visada | 4 ligose |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Visada | 2 ligose |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Visada | 1 ligoje |
| BCORBCL6 corepressor | Visada | 2 ligose |
| BMP2bone morphogenetic protein 2 | Visada | 2 ligose |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Visada | 2 ligose |
| CDC6cell division cycle 6 | Visada | 1 ligoje |
| CDK10cyclin dependent kinase 10 | Visada | 1 ligoje |
| CEP295centrosomal protein 295 | Visada | 1 ligoje |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Visada | 1 ligoje |
| CHD8chromodomain helicase DNA binding protein 8 | Visada | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Visada | 2 ligose |
| CHST3carbohydrate sulfotransferase 3 | Visada | 3 ligose |
| COL2A1collagen type II alpha 1 chain | Visada | 3 ligose |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Visada | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EXOSC1exosome component 1 | Visada | 1 ligoje |
| EXOSC2exosome component 2 | Visada | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Visada | 2 ligose |
| FGFR1fibroblast growth factor receptor 1 | Visada | 2 ligose |
| GGCXgamma-glutamyl carboxylase | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IRX5iroquois homeobox 5 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Visada | 3 ligose |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Visada | 2 ligose |
| LTBP4latent transforming growth factor beta binding protein 4 | Visada | 1 ligoje |
| MAB21L1mab-21 like 1 | Visada | 2 ligose |
| MAP2K1mitogen-activated protein kinase kinase 1 | Visada | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Visada | 2 ligose |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| MOCS3molybdenum cofactor synthesis 3 | Visada | 1 ligoje |
Rodyti dar 420 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MRPS28mitochondrial ribosomal protein S28 | Visada | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Visada | 2 ligose |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Visada | 1 ligoje |
| MYH3myosin heavy chain 3 | Visada | 3 ligose |
| MYMXmyomixer, myoblast fusion factor | Visada | 2 ligose |
| NALCNsodium leak channel, non-selective | Visada | 3 ligose |
| NBNnibrin | Visada | 1 ligoje |
| NLRP1NLR family pyrin domain containing 1 | Visada | 1 ligoje |
| NOTCH2notch receptor 2 | Visada | 2 ligose |
| NSD2nuclear receptor binding SET domain protein 2 | Visada | 1 ligoje |
| NXNnucleoredoxin | Visada | 2 ligose |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Visada | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Visada | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Visada | 1 ligoje |
| PKDCCprotein kinase domain containing, cytoplasmic | Visada | 1 ligoje |
| POC1APOC1 centriolar protein A | Visada | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 2 ligose |
| PUF60poly(U) binding splicing factor 60 | Visada | 3 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| RAC3Rac family small GTPase 3 | Visada | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Visada | 2 ligose |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Visada | 2 ligose |
| RPL10ribosomal protein L10 | Visada | 2 ligose |
| SATB2SATB homeobox 2 | Visada | 4 ligose |
| SC5Dsterol-C5-desaturase | Visada | 2 ligose |
| SCAF4SR-related CTD associated factor 4 | Visada | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Visada | 2 ligose |
| SETD5SET domain containing 5 | Visada | 2 ligose |
| SIN3ASIN3 transcription regulator family member A | Visada | 2 ligose |
| SLC6A17solute carrier family 6 member 17 | Visada | 2 ligose |
| SPOUT1SPOUT domain containing methyltransferase 1 | Visada | 1 ligoje |
| TAF8TATA-box binding protein associated factor 8 | Visada | 1 ligoje |
| TBCEtubulin folding cofactor E | Visada | 2 ligose |
| TBX5T-box transcription factor 5 | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Visada | 4 ligose |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Visada | 1 ligoje |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Labai dažnai (80–99%) | 2 ligose |
| ACTBactin beta | Labai dažnai (80–99%) | 2 ligose |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 2 ligose |
| ADAMTSL2ADAMTS like 2 | Labai dažnai (80–99%) | 2 ligose |
| ADSLadenylosuccinate lyase | Labai dažnai (80–99%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Labai dažnai (80–99%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Labai dažnai (80–99%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BCL11ABCL11 transcription factor A | Labai dažnai (80–99%) | 1 ligoje |
| BRD4bromodomain containing 4 | Labai dažnai (80–99%) | 2 ligose |
| BRPF1bromodomain and PHD finger containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| CD96CD96 molecule | Labai dažnai (80–99%) | 1 ligoje |
| CLCF1cardiotrophin like cytokine factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Labai dažnai (80–99%) | 3 ligose |
| COL11A2collagen type XI alpha 2 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Labai dažnai (80–99%) | 2 ligose |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Labai dažnai (80–99%) | 2 ligose |
| DVL1dishevelled segment polarity protein 1 | Labai dažnai (80–99%) | 3 ligose |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 3 ligose |
| EXT1exostosin glycosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 4 ligose |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Labai dažnai (80–99%) | 2 ligose |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| GPC6glypican 6 | Labai dažnai (80–99%) | 2 ligose |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 2 ligose |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 2 ligose |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Labai dažnai (80–99%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| LTBP3latent transforming growth factor beta binding protein 3 | Labai dažnai (80–99%) | 3 ligose |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Labai dažnai (80–99%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Labai dažnai (80–99%) | 2 ligose |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| MID1midline 1 | Labai dažnai (80–99%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Labai dažnai (80–99%) | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Labai dažnai (80–99%) | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Labai dažnai (80–99%) | 2 ligose |
| NSD1nuclear receptor binding SET domain protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Labai dažnai (80–99%) | 2 ligose |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Labai dažnai (80–99%) | 2 ligose |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| PUS1pseudouridine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Labai dažnai (80–99%) | 3 ligose |
| RELREL proto-oncogene, NF-kB subunit | Labai dažnai (80–99%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNF135ring finger protein 135 | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 2 ligose |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Labai dažnai (80–99%) | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Labai dažnai (80–99%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Labai dažnai (80–99%) | 2 ligose |
| SNX14sorting nexin 14 | Labai dažnai (80–99%) | 2 ligose |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Labai dažnai (80–99%) | 2 ligose |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 2 ligose |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Labai dažnai (80–99%) | 2 ligose |
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Labai dažnai (80–99%) | 2 ligose |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| XPO1exportin 1 | Labai dažnai (80–99%) | 1 ligoje |
| YARS2tyrosyl-tRNA synthetase 2 | Labai dažnai (80–99%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Dažnai (30–79%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Dažnai (30–79%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Dažnai (30–79%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Dažnai (30–79%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| ARSKarylsulfatase family member K | Dažnai (30–79%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 2 ligose |
| B3GALT6beta-1,3-galactosyltransferase 6 | Dažnai (30–79%) | 2 ligose |
| BAP1BRCA1 associated deubiquitinase 1 | Dažnai (30–79%) | 1 ligoje |
| BCL11BBCL11 transcription factor B | Dažnai (30–79%) | 1 ligoje |
| BMP1bone morphogenetic protein 1 | Dažnai (30–79%) | 1 ligoje |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 2 ligose |
| CANT1calcium activated nucleotidase 1 | Dažnai (30–79%) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Dažnai (30–79%) | 2 ligose |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Dažnai (30–79%) | 2 ligose |
| CCNKcyclin K | Dažnai (30–79%) | 1 ligoje |
| CLCN6Cl-/H+ antiporter 6 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 2 ligose |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| CUL7cullin 7 | Dažnai (30–79%) | 2 ligose |
| DBR1debranching RNA lariats 1 | Dažnai (30–79%) | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Dažnai (30–79%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Dažnai (30–79%) | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Dažnai (30–79%) | 2 ligose |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC2exocyst complex component 2 | Dažnai (30–79%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FAR1fatty acyl-CoA reductase 1 | Dažnai (30–79%) | 2 ligose |
| FGF3fibroblast growth factor 3 | Dažnai (30–79%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 3 ligose |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| HMBShydroxymethylbilane synthase | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 1 ligoje |
| IFT81intraflagellar transport 81 | Dažnai (30–79%) | 1 ligoje |
| INTS1integrator complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Dažnai (30–79%) | 1 ligoje |
| KMT2Alysine methyltransferase 2A | Dažnai (30–79%) | 2 ligose |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 2 ligose |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 3 ligose |
| METTL23methyltransferase 23, arginine | Dažnai (30–79%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Dažnai (30–79%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Dažnai (30–79%) | 1 ligoje |
| MYO18Bmyosin XVIIIB | Dažnai (30–79%) | 1 ligoje |
| MYOD1myogenic differentiation 1 | Dažnai (30–79%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Dažnai (30–79%) | 1 ligoje |
| NOS3nitric oxide synthase 3 | Dažnai (30–79%) | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Dažnai (30–79%) | 2 ligose |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| OTUD6BOTU deubiquitinase 6B | Dažnai (30–79%) | 2 ligose |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 2 ligose |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 2 ligose |
| PMM2phosphomannomutase 2 | Dažnai (30–79%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Dažnai (30–79%) | 1 ligoje |
| PYCR1pyrroline-5-carboxylate reductase 1 | Dažnai (30–79%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RIC1RIC1 partner of RAB6A GEF complex | 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 |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SETBP1SET binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 2 ligose |
| TASP1taspase 1 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TET3tet methylcytosine dioxygenase 3 | Dažnai (30–79%) | 1 ligoje |
| THSD1thrombospondin type 1 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| TMEM147transmembrane protein 147 | Dažnai (30–79%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Dažnai (30–79%) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Dažnai (30–79%) | 1 ligoje |
| TUBBtubulin beta class I | Dažnai (30–79%) | 2 ligose |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Dažnai (30–79%) | 1 ligoje |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 1 ligoje |
| WNT5AWnt family member 5A | Dažnai (30–79%) | 2 ligose |
| XYLT1xylosyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| ZFXzinc finger protein X-linked | Dažnai (30–79%) | 1 ligoje |
| ABCC8ATP binding cassette subfamily C member 8 | Kartais (5–29%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Kartais (5–29%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Kartais (5–29%) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Kartais (5–29%) | 2 ligose |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 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 |
| BBS2Bardet-Biedl syndrome 2 | 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 |
| BRF1BRF1 general transcription factor IIIB subunit | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CDH2cadherin 2 | 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 |
| CHRNGcholinergic receptor nicotinic gamma subunit | Kartais (5–29%) | 2 ligose |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| COG3component of oligomeric golgi complex 3 | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 2 ligose |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DLL3delta like canonical Notch ligand 3 | Kartais (5–29%) | 1 ligoje |
| ERFETS2 repressor factor | Kartais (5–29%) | 1 ligoje |
| EXOC7exocyst complex component 7 | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Kartais (5–29%) | 1 ligoje |
| FBXO11F-box protein 11 | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| FOXP2forkhead box P2 | Kartais (5–29%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| GLB1galactosidase beta 1 | Kartais (5–29%) | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Kartais (5–29%) | 1 ligoje |
| HES7hes family bHLH transcription factor 7 | Kartais (5–29%) | 1 ligoje |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | 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 |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Kartais (5–29%) | 1 ligoje |
| KDM4Blysine demethylase 4B | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 2 ligose |
| KIF26Akinesin family member 26A | Kartais (5–29%) | 1 ligoje |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MAB21L2mab-21 like 2 | Kartais (5–29%) | 1 ligoje |
| MADDMAP kinase activating death domain | Kartais (5–29%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Kartais (5–29%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Kartais (5–29%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MEIS2Meis homeobox 2 | Kartais (5–29%) | 1 ligoje |
| MESP2mesoderm posterior bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| MPC1mitochondrial pyruvate carrier 1 | Kartais (5–29%) | 1 ligoje |
| MTX2metaxin 2 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 2 ligose |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 2 ligose |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| NSRP1nuclear speckle splicing regulatory protein 1 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| PAHphenylalanine hydroxylase | Kartais (5–29%) | 1 ligoje |
| PCDHGC4protocadherin gamma subfamily C, 4 | Kartais (5–29%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Kartais (5–29%) | 1 ligoje |
| PGM2L1phosphoglucomutase 2 like 1 | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Kartais (5–29%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 2 ligose |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 2 ligose |
| RAI1retinoic acid induced 1 | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RIPPLY2ripply transcriptional repressor 2 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | 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 |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Kartais (5–29%) | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| SLF2SMC5/6 complex localization factor 2 | Kartais (5–29%) | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Kartais (5–29%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| SMOC1SPARC related modular calcium binding 1 | Kartais (5–29%) | 1 ligoje |
| SNAI2snail family transcriptional repressor 2 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| TAF6TATA-box binding protein associated factor 6 | Kartais (5–29%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Kartais (5–29%) | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 2 ligose |
| TBX6T-box transcription factor 6 | Kartais (5–29%) | 1 ligoje |
| TMEM53transmembrane protein 53 | Kartais (5–29%) | 1 ligoje |
| TPM3tropomyosin 3 | Kartais (5–29%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 3 ligose |
| TRIP12thyroid hormone receptor interactor 12 | Kartais (5–29%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Kartais (5–29%) | 1 ligoje |
| TTC5tetratricopeptide repeat domain 5 | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Kartais (5–29%) | 1 ligoje |
| UGP2UDP-glucose pyrophosphorylase 2 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| WDPCPWD repeat containing planar cell polarity effector | Kartais (5–29%) | 1 ligoje |
| XYLT2xylosyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Retai (1–4 %) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Retai (1–4 %) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Retai (1–4 %) | 1 ligoje |
| FLNAfilamin A | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| H3-3AH3.3 histone A | Retai (1–4 %) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Retai (1–4 %) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Retai (1–4 %) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Retai (1–4 %) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Retai (1–4 %) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Retai (1–4 %) | 1 ligoje |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Neužfiksuota | 1 ligoje |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Neužfiksuota | 1 ligoje |
| ARXaristaless related homeobox | Neužfiksuota | 1 ligoje |
| ATN1atrophin 1 | Neužfiksuota | 1 ligoje |
| AVParginine vasopressin | Neužfiksuota | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Neužfiksuota | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Neužfiksuota | 1 ligoje |
| CBLCbl proto-oncogene | Neužfiksuota | 1 ligoje |
| CDH11cadherin 11 | Neužfiksuota | 1 ligoje |
| CLTCclathrin heavy chain | Neužfiksuota | 1 ligoje |
| CRTAPcartilage associated protein | Neužfiksuota | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Neužfiksuota | 1 ligoje |
| GJA1gap junction protein alpha 1 | Neužfiksuota | 1 ligoje |
| GLIS3GLIS family zinc finger 3 | Neužfiksuota | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Neužfiksuota | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Neužfiksuota | 1 ligoje |
| MOCS1molybdenum cofactor synthesis 1 | Neužfiksuota | 1 ligoje |
| MOCS2molybdenum cofactor synthesis 2 | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| NFIBnuclear factor I B | Neužfiksuota | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Neužfiksuota | 1 ligoje |
| OCLNoccludin | Neužfiksuota | 1 ligoje |
| PCLOpiccolo presynaptic cytomatrix protein | Neužfiksuota | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Neužfiksuota | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SLC2A10solute carrier family 2 member 10 | Neužfiksuota | 1 ligoje |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Neužfiksuota | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Neužfiksuota | 1 ligoje |
| STAG2STAG2 cohesin complex component | Neužfiksuota | 1 ligoje |
| TENM3teneurin transmembrane protein 3 | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| TNNI2troponin I2, fast skeletal type | Neužfiksuota | 1 ligoje |
| TNPO2transportin 2 | Neužfiksuota | 1 ligoje |
| TRAPPC4trafficking protein particle complex subunit 4 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 2 ligose |
| ZMIZ1zinc finger MIZ-type containing 1 | Neužfiksuota | 1 ligoje |
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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