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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Short fingers or toes
Klinikinis pavadinimas: Brachydactyly
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Santrauka
- Taip pat vadinama
- Brachydactyly syndrome
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/brachydactyly.json"
page <- fromJSON(url)
page$trait$nameShort fingers or toesHP:0001156
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Short fingers or toes, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test381 genas susijęs su Short fingers or toes
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short fingers or toes. 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Visada | 2 ligose |
| AFF4ALF transcription elongation factor 4 | Visada | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Visada | 1 ligoje |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Visada | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Visada | 2 ligose |
| BBS5Bardet-Biedl syndrome 5 | Visada | 2 ligose |
| BBS9Bardet-Biedl syndrome 9 | Visada | 2 ligose |
| BGNbiglycan | Visada | 2 ligose |
| BMPR1Bbone morphogenetic protein receptor type 1B | Visada | 3 ligose |
| CEP55centrosomal protein 55 | Visada | 1 ligoje |
| CHST11carbohydrate sulfotransferase 11 | Visada | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Visada | 2 ligose |
| COL2A1collagen type II alpha 1 chain | Visada | 4 ligose |
| COMPcartilage oligomeric matrix protein | Visada | 3 ligose |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Visada | 1 ligoje |
| DCPSdecapping enzyme, scavenger | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 2 ligose |
| DVL1dishevelled segment polarity protein 1 | Visada | 3 ligose |
| DVL3dishevelled segment polarity protein 3 | Visada | 2 ligose |
| DYMdymeclin | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| ERFETS2 repressor factor | Visada | 1 ligoje |
| ERI1exoribonuclease 1 | Visada | 2 ligose |
| EXOSC2exosome component 2 | Visada | 1 ligoje |
| FBXO28F-box protein 28 | Visada | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Visada | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Visada | 1 ligoje |
| GDF5growth differentiation factor 5 | Visada | 9 ligose |
| GLI3GLI family zinc finger 3 | Visada | 2 ligose |
| GNASGNAS complex locus | Visada | 8 ligose |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Visada | 1 ligoje |
| IFT122intraflagellar transport 122 | Visada | 2 ligose |
| IFT140intraflagellar transport 140 | Visada | 2 ligose |
| IFT43intraflagellar transport 43 | Visada | 3 ligose |
| IFT52intraflagellar transport 52 | Visada | 2 ligose |
| IHHIndian hedgehog signaling molecule | Visada | 2 ligose |
| KDM6Alysine demethylase 6A | Visada | 3 ligose |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| KIAA0753KIAA0753 | Visada | 3 ligose |
Rodyti dar 341 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| KMT2Dlysine methyltransferase 2D | Visada | 2 ligose |
| LBRlamin B receptor | Visada | 3 ligose |
| LTBP3latent transforming growth factor beta binding protein 3 | Visada | 3 ligose |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Visada | 2 ligose |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Visada | 2 ligose |
| MIR140microRNA 140 | Visada | 1 ligoje |
| MRPS16mitochondrial ribosomal protein S16 | Visada | 1 ligoje |
| NBASNBAS subunit of NRZ tethering complex | Visada | 1 ligoje |
| NXNnucleoredoxin | Visada | 2 ligose |
| OFD1OFD1 centriole and centriolar satellite protein | Visada | 4 ligose |
| PDE4Dphosphodiesterase 4D | Visada | 3 ligose |
| PLCB3phospholipase C beta 3 | Visada | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Visada | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Visada | 2 ligose |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Visada | 2 ligose |
| RMP64ribonuclease MRP subunit p64 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Visada | 2 ligose |
| SIK3SIK family kinase 3 | Visada | 1 ligoje |
| SLC35C1solute carrier family 35 member C1 | Visada | 1 ligoje |
| SMAD4SMAD family member 4 | Visada | 2 ligose |
| TBC1D32TBC1 domain family member 32 | Visada | 1 ligoje |
| TBX15T-box transcription factor 15 | Visada | 1 ligoje |
| TRIP11thyroid hormone receptor interactor 11 | Visada | 1 ligoje |
| TRPS1transcriptional repressor GATA binding 1 | Visada | 3 ligose |
| TTC21Btetratricopeptide repeat domain 21B | Visada | 2 ligose |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| WDR19WD repeat domain 19 | Visada | 3 ligose |
| WDR35WD repeat domain 35 | Visada | 3 ligose |
| WNT5AWnt family member 5A | Visada | 2 ligose |
| ACANaggrecan | Labai dažnai (80–99%) | 4 ligose |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Labai dažnai (80–99%) | 1 ligoje |
| ANTXR2ANTXR cell adhesion molecule 2 | Labai dažnai (80–99%) | 1 ligoje |
| B3GLCTbeta 3-glucosyltransferase | Labai dažnai (80–99%) | 2 ligose |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Labai dažnai (80–99%) | 2 ligose |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | 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 |
| CTSKcathepsin K | Labai dažnai (80–99%) | 2 ligose |
| CWC27CWC27 spliceosome associated cyclophilin | Labai dažnai (80–99%) | 2 ligose |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 4 ligose |
| FGF9fibroblast growth factor 9 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Labai dažnai (80–99%) | 4 ligose |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 11 ligose |
| FLNAfilamin A | Labai dažnai (80–99%) | 2 ligose |
| FLNBfilamin B | Labai dažnai (80–99%) | 4 ligose |
| FLT4fms related receptor tyrosine kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| GATA4GATA binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| GATA5GATA binding protein 5 | Labai dažnai (80–99%) | 1 ligoje |
| GATA6GATA binding protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| GDF1growth differentiation factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| GDF6growth differentiation factor 6 | Labai dažnai (80–99%) | 2 ligose |
| GJA5gap junction protein alpha 5 | Labai dažnai (80–99%) | 2 ligose |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| INPPL1inositol polyphosphate phosphatase like 1 | Labai dažnai (80–99%) | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| KDRkinase insert domain receptor | Labai dažnai (80–99%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| LTBP1latent transforming growth factor beta binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| LTBP2latent transforming growth factor beta binding protein 2 | Labai dažnai (80–99%) | 2 ligose |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MACROH2A1macroH2A.1 histone | Labai dažnai (80–99%) | 1 ligoje |
| MAFMAF bZIP transcription factor | 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 |
| MYMXmyomixer, myoblast fusion factor | Labai dažnai (80–99%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Labai dažnai (80–99%) | 1 ligoje |
| NKX2-6NK2 homeobox 6 | Labai dažnai (80–99%) | 1 ligoje |
| NLRP3NLR family pyrin domain containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| NOGnoggin | Labai dažnai (80–99%) | 4 ligose |
| NOTCH2notch receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| PCNTpericentrin | Labai dažnai (80–99%) | 2 ligose |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Labai dažnai (80–99%) | 2 ligose |
| PDE3Aphosphodiesterase 3A | Labai dažnai (80–99%) | 1 ligoje |
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PITX1paired like homeodomain 1 | Labai dažnai (80–99%) | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Labai dažnai (80–99%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Labai dažnai (80–99%) | 2 ligose |
| PTDSS1phosphatidylserine synthase 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 6 ligose |
| RSPRY1ring finger and SPRY domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Labai dažnai (80–99%) | 1 ligoje |
| SHOXSHOX homeobox | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Labai dažnai (80–99%) | 2 ligose |
| SNX14sorting nexin 14 | Labai dažnai (80–99%) | 2 ligose |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 2 ligose |
| TBX1T-box transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Labai dažnai (80–99%) | 3 ligose |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Labai dažnai (80–99%) | 1 ligoje |
| ADAMTSL2ADAMTS like 2 | Dažnai (30–79%) | 1 ligoje |
| AHSGalpha 2-HS glycoprotein | Dažnai (30–79%) | 1 ligoje |
| ALX1ALX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| ALX3ALX homeobox 3 | Dažnai (30–79%) | 2 ligose |
| ARHGAP31Rho GTPase activating protein 31 | Dažnai (30–79%) | 2 ligose |
| ARL6ARF like GTPase 6 | Dažnai (30–79%) | 3 ligose |
| ATP7AATPase copper transporting alpha | Dažnai (30–79%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Dažnai (30–79%) | 2 ligose |
| BBS10Bardet-Biedl syndrome 10 | Dažnai (30–79%) | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Dažnai (30–79%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Dažnai (30–79%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Dažnai (30–79%) | 2 ligose |
| BBS7Bardet-Biedl syndrome 7 | Dažnai (30–79%) | 1 ligoje |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Dažnai (30–79%) | 1 ligoje |
| CCDC32coiled-coil domain containing 32 | Dažnai (30–79%) | 1 ligoje |
| CEP120centrosomal protein 120 | Dažnai (30–79%) | 1 ligoje |
| CEP19centrosomal protein 19 | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Dažnai (30–79%) | 1 ligoje |
| CHSY1chondroitin sulfate synthase 1 | Dažnai (30–79%) | 2 ligose |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| DBHdopamine beta-hydroxylase | Dažnai (30–79%) | 1 ligoje |
| DLL4delta like canonical Notch ligand 4 | Dažnai (30–79%) | 2 ligose |
| DOCK6dedicator of cytokinesis 6 | Dažnai (30–79%) | 1 ligoje |
| DPF2double PHD fingers 2 | Dažnai (30–79%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Dažnai (30–79%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 2 ligose |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 2 ligose |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 2 ligose |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Dažnai (30–79%) | 2 ligose |
| DYNLT2Bdynein light chain Tctex-type 2B | Dažnai (30–79%) | 1 ligoje |
| EFNB1ephrin B1 | Dažnai (30–79%) | 2 ligose |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Dažnai (30–79%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| EXTL3exostosin like glycosyltransferase 3 | Dažnai (30–79%) | 2 ligose |
| FAM149B1family with sequence similarity 149 member B1 | Dažnai (30–79%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Dažnai (30–79%) | 2 ligose |
| GHRgrowth hormone receptor | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Dažnai (30–79%) | 1 ligoje |
| HHAThedgehog acyltransferase | Dažnai (30–79%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 3 ligose |
| IFT27intraflagellar transport 27 | Dažnai (30–79%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Dažnai (30–79%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 2 ligose |
| ITGB6integrin subunit beta 6 | Dažnai (30–79%) | 1 ligoje |
| KCNK4potassium two pore domain channel subfamily K member 4 | Dažnai (30–79%) | 1 ligoje |
| KDM1Alysine demethylase 1A | Dažnai (30–79%) | 1 ligoje |
| KIF15kinesin family member 15 | Dažnai (30–79%) | 1 ligoje |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Dažnai (30–79%) | 3 ligose |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| LMNAlamin A/C | Dažnai (30–79%) | 2 ligose |
| LSSlanosterol synthase | Dažnai (30–79%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Dažnai (30–79%) | 2 ligose |
| MIR17HGmiR-17-92a-1 cluster host gene | Dažnai (30–79%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 2 ligose |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 2 ligose |
| NOTCH1notch receptor 1 | Dažnai (30–79%) | 2 ligose |
| NPHP1nephrocystin 1 | Dažnai (30–79%) | 1 ligoje |
| NPR2natriuretic peptide receptor 2 | Dažnai (30–79%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Dažnai (30–79%) | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Dažnai (30–79%) | 1 ligoje |
| PLXND1plexin D1 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Dažnai (30–79%) | 1 ligoje |
| PTCH1patched 1 | Dažnai (30–79%) | 2 ligose |
| PTCH2patched 2 | Dažnai (30–79%) | 1 ligoje |
| RAD21RAD21 cohesin complex component | Dažnai (30–79%) | 2 ligose |
| RAP1BRAP1B, member of RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Dažnai (30–79%) | 1 ligoje |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Dažnai (30–79%) | 1 ligoje |
| RDH11retinol dehydrogenase 11 | Dažnai (30–79%) | 1 ligoje |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| RUNX2RUNX family transcription factor 2 | Dažnai (30–79%) | 2 ligose |
| SCAPERS-phase cyclin A associated protein in the ER | Dažnai (30–79%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Dažnai (30–79%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Dažnai (30–79%) | 1 ligoje |
| SIL1SIL1 nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Dažnai (30–79%) | 2 ligose |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 4 ligose |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Dažnai (30–79%) | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Dažnai (30–79%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Dažnai (30–79%) | 2 ligose |
| SUFUSUFU negative regulator of hedgehog signaling | Dažnai (30–79%) | 1 ligoje |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 2 ligose |
| TELO2telomere maintenance 2 | Dažnai (30–79%) | 2 ligose |
| TLK2tousled like kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TNXBtenascin XB | Dažnai (30–79%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Dažnai (30–79%) | 2 ligose |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Dažnai (30–79%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Dažnai (30–79%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 3 ligose |
| WDPCPWD repeat containing planar cell polarity effector | Dažnai (30–79%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 2 ligose |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Kartais (5–29%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 2 ligose |
| CBLCbl proto-oncogene | Kartais (5–29%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Kartais (5–29%) | 1 ligoje |
| CSNK2A1casein kinase 2 alpha 1 | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 1 ligoje |
| DDX3XDEAD-box helicase 3 X-linked | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Kartais (5–29%) | 1 ligoje |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Kartais (5–29%) | 1 ligoje |
| EXT1exostosin glycosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Kartais (5–29%) | 2 ligose |
| GJB3gap junction protein beta 3 | Kartais (5–29%) | 1 ligoje |
| GJB4gap junction protein beta 4 | Kartais (5–29%) | 1 ligoje |
| GNAS-AS1GNAS antisense RNA 1 | Kartais (5–29%) | 1 ligoje |
| HRASHRas proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Kartais (5–29%) | 2 ligose |
| KDSR3-ketodihydrosphingosine reductase | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KIF26Akinesin family member 26A | Kartais (5–29%) | 1 ligoje |
| KLF13KLF transcription factor 13 | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Kartais (5–29%) | 1 ligoje |
| MED12mediator complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Kartais (5–29%) | 1 ligoje |
| MSX2msh homeobox 2 | Kartais (5–29%) | 1 ligoje |
| MYSM1Myb like, SWIRM and MPN domains 1 | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NRASNRAS proto-oncogene, GTPase | Kartais (5–29%) | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 1 ligoje |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Kartais (5–29%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Kartais (5–29%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Kartais (5–29%) | 2 ligose |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| RASA2RAS p21 protein activator 2 | Kartais (5–29%) | 1 ligoje |
| RHOAras homolog family member A | Kartais (5–29%) | 1 ligoje |
| RIN2Ras and Rab interactor 2 | Kartais (5–29%) | 2 ligose |
| RIT1Ras like without CAAX 1 | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| RRASRAS related | Kartais (5–29%) | 1 ligoje |
| RRAS2RAS related 2 | Kartais (5–29%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Kartais (5–29%) | 1 ligoje |
| SHOC2SHOC2 leucine rich repeat scaffold protein | 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 |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Kartais (5–29%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Kartais (5–29%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| STX16syntaxin 16 | Kartais (5–29%) | 1 ligoje |
| TASP1taspase 1 | Kartais (5–29%) | 1 ligoje |
| TBX22T-box transcription factor 22 | Kartais (5–29%) | 1 ligoje |
| TCF12transcription factor 12 | Kartais (5–29%) | 2 ligose |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Kartais (5–29%) | 1 ligoje |
| VPS35LVPS35 endosomal protein sorting factor like | Kartais (5–29%) | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| WNT4Wnt family member 4 | Kartais (5–29%) | 1 ligoje |
| ZDHHC9zDHHC palmitoyltransferase 9 | Kartais (5–29%) | 1 ligoje |
| ZIC1Zic family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| ADNPactivity dependent neuroprotector homeobox | Retai (1–4 %) | 1 ligoje |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Retai (1–4 %) | 1 ligoje |
| CDH11cadherin 11 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| PAHphenylalanine hydroxylase | Retai (1–4 %) | 1 ligoje |
| PGM3phosphoglucomutase 3 | Retai (1–4 %) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Neužfiksuota | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Neužfiksuota | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| C12orf57chromosome 12 open reading frame 57 | Neužfiksuota | 1 ligoje |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Neužfiksuota | 1 ligoje |
| EVCEvC ciliary complex subunit 1 | Neužfiksuota | 1 ligoje |
| EVC2EvC ciliary complex subunit 2 | Neužfiksuota | 1 ligoje |
| FAM111AFAM111 trypsin like peptidase A | Neužfiksuota | 1 ligoje |
| GPX4glutathione peroxidase 4 | Neužfiksuota | 1 ligoje |
| HOXD13homeobox D13 | Neužfiksuota | 3 ligose |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| IFT57intraflagellar transport 57 | Neužfiksuota | 1 ligoje |
| IFT81intraflagellar transport 81 | Neužfiksuota | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Neužfiksuota | 1 ligoje |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Neužfiksuota | 1 ligoje |
| KDM5Clysine demethylase 5C | Neužfiksuota | 1 ligoje |
| MAGEL2MAGE family member L2 | Neužfiksuota | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Neužfiksuota | 1 ligoje |
| PAPSS23'-phosphoadenosine 5'-phosphosulfate synthase 2 | Neužfiksuota | 1 ligoje |
| PAX3paired box 3 | Neužfiksuota | 1 ligoje |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Neužfiksuota | 1 ligoje |
| POC1APOC1 centriolar protein A | Neužfiksuota | 1 ligoje |
| POMPproteasome maturation protein | Neužfiksuota | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Neužfiksuota | 1 ligoje |
| PORCNporcupine O-acyltransferase | Neužfiksuota | 1 ligoje |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Neužfiksuota | 1 ligoje |
| PTHLHparathyroid hormone like hormone | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Neužfiksuota | 1 ligoje |
| SLC35D1solute carrier family 35 member D1 | Neužfiksuota | 1 ligoje |
| SLURP1secreted LY6/PLAUR domain containing 1 | Neužfiksuota | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Neužfiksuota | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Neužfiksuota | 1 ligoje |
| SPARTspartin | Neužfiksuota | 1 ligoje |
| STAMBPSTAM binding protein | Neužfiksuota | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Neužfiksuota | 1 ligoje |
| TMEM67transmembrane protein 67 | Neužfiksuota | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Neužfiksuota | 1 ligoje |
| WNT7AWnt family member 7A | Neužfiksuota | 1 ligoje |
| YY1AP1YY1 associated protein 1 | Neužfiksuota | 1 ligoje |
| 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 2026.10.17-8666dff2.
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