AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Træk
Short fingers or toes
Klinisk navn: 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.
Resumé
- Også kaldet
- Brachydactyly syndrome
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/brachydactyly.json"
page <- fromJSON(url)
page$trait$nameShort fingers or toesHP:0001156
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Short fingers or toes, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test381 gener knyttet til Short fingers or toes
Ændringer i disse gener forårsager sjældne tilstande, hvor Short fingers or toes ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Altid | I 2 tilstande |
| AFF4ALF transcription elongation factor 4 | Altid | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Altid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Altid | I 2 tilstande |
| BBS5Bardet-Biedl syndrome 5 | Altid | I 2 tilstande |
| BBS9Bardet-Biedl syndrome 9 | Altid | I 2 tilstande |
| BGNbiglycan | Altid | I 2 tilstande |
| BMPR1Bbone morphogenetic protein receptor type 1B | Altid | I 3 tilstande |
| CEP55centrosomal protein 55 | Altid | I 1 tilstand |
| CHST11carbohydrate sulfotransferase 11 | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Altid | I 4 tilstande |
| COMPcartilage oligomeric matrix protein | Altid | I 3 tilstande |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Altid | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Altid | I 2 tilstande |
| DYMdymeclin | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| ERFETS2 repressor factor | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 2 tilstande |
| EXOSC2exosome component 2 | Altid | I 1 tilstand |
| FBXO28F-box protein 28 | Altid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altid | I 1 tilstand |
| GDF5growth differentiation factor 5 | Altid | I 9 tilstande |
| GLI3GLI family zinc finger 3 | Altid | I 2 tilstande |
| GNASGNAS complex locus | Altid | I 8 tilstande |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Altid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Altid | I 2 tilstande |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| IFT43intraflagellar transport 43 | Altid | I 3 tilstande |
| IFT52intraflagellar transport 52 | Altid | I 2 tilstande |
| IHHIndian hedgehog signaling molecule | Altid | I 2 tilstande |
| KDM6Alysine demethylase 6A | Altid | I 3 tilstande |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIAA0753KIAA0753 | Altid | I 3 tilstande |
Vis 341 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| KMT2Dlysine methyltransferase 2D | Altid | I 2 tilstande |
| LBRlamin B receptor | Altid | I 3 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Altid | I 3 tilstande |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 2 tilstande |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Altid | I 2 tilstande |
| MIR140microRNA 140 | Altid | I 1 tilstand |
| MRPS16mitochondrial ribosomal protein S16 | Altid | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Altid | I 1 tilstand |
| NXNnucleoredoxin | Altid | I 2 tilstande |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 4 tilstande |
| PDE4Dphosphodiesterase 4D | Altid | I 3 tilstande |
| PLCB3phospholipase C beta 3 | Altid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altid | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Altid | I 2 tilstande |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Altid | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Altid | I 2 tilstande |
| RMP64ribonuclease MRP subunit p64 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Altid | I 2 tilstande |
| SIK3SIK family kinase 3 | Altid | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Altid | I 1 tilstand |
| SMAD4SMAD family member 4 | Altid | I 2 tilstande |
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| TBX15T-box transcription factor 15 | Altid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Altid | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Altid | I 3 tilstande |
| TTC21Btetratricopeptide repeat domain 21B | Altid | I 2 tilstande |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 3 tilstande |
| WDR35WD repeat domain 35 | Altid | I 3 tilstande |
| WNT5AWnt family member 5A | Altid | I 2 tilstande |
| ACANaggrecan | Meget ofte (80–99 %) | I 4 tilstande |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Meget ofte (80–99 %) | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Meget ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL11A2collagen type XI alpha 2 chain | Meget ofte (80–99 %) | I 2 tilstande |
| CTSKcathepsin K | Meget ofte (80–99 %) | I 2 tilstande |
| CWC27CWC27 spliceosome associated cyclophilin | Meget ofte (80–99 %) | I 2 tilstande |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 4 tilstande |
| FGF9fibroblast growth factor 9 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 11 tilstande |
| FLNAfilamin A | Meget ofte (80–99 %) | I 2 tilstande |
| FLNBfilamin B | Meget ofte (80–99 %) | I 4 tilstande |
| FLT4fms related receptor tyrosine kinase 4 | Meget ofte (80–99 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| GATA5GATA binding protein 5 | Meget ofte (80–99 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| GDF1growth differentiation factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Meget ofte (80–99 %) | I 2 tilstande |
| GJA5gap junction protein alpha 5 | Meget ofte (80–99 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KDRkinase insert domain receptor | Meget ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP2latent transforming growth factor beta binding protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MACROH2A1macroH2A.1 histone | Meget ofte (80–99 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Meget ofte (80–99 %) | I 1 tilstand |
| NKX2-6NK2 homeobox 6 | Meget ofte (80–99 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NOGnoggin | Meget ofte (80–99 %) | I 4 tilstande |
| NOTCH2notch receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PCNTpericentrin | Meget ofte (80–99 %) | I 2 tilstande |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Meget ofte (80–99 %) | I 2 tilstande |
| PDE3Aphosphodiesterase 3A | Meget ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PITX1paired like homeodomain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Meget ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Meget ofte (80–99 %) | I 2 tilstande |
| PTDSS1phosphatidylserine synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Meget ofte (80–99 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 6 tilstande |
| RSPRY1ring finger and SPRY domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Meget ofte (80–99 %) | I 1 tilstand |
| SHOXSHOX homeobox | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SNX14sorting nexin 14 | Meget ofte (80–99 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Meget ofte (80–99 %) | I 3 tilstande |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstande |
| ARHGAP31Rho GTPase activating protein 31 | Ofte (30–79 %) | I 2 tilstande |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 3 tilstande |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstande |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 2 tilstande |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Ofte (30–79 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Ofte (30–79 %) | I 2 tilstande |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DLL4delta like canonical Notch ligand 4 | Ofte (30–79 %) | I 2 tilstande |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 2 tilstande |
| DYNLT2Bdynein light chain Tctex-type 2B | Ofte (30–79 %) | I 1 tilstand |
| EFNB1ephrin B1 | Ofte (30–79 %) | I 2 tilstande |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 2 tilstande |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| GHRgrowth hormone receptor | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| HHAThedgehog acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 3 tilstande |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 2 tilstande |
| ITGB6integrin subunit beta 6 | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 2 tilstande |
| LSSlanosterol synthase | Ofte (30–79 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 2 tilstande |
| MIR17HGmiR-17-92a-1 cluster host gene | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| NOTCH1notch receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PLXND1plexin D1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 2 tilstande |
| PTCH2patched 2 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Ofte (30–79 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Ofte (30–79 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ofte (30–79 %) | I 2 tilstande |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstande |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 4 tilstande |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 2 tilstande |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 2 tilstande |
| TELO2telomere maintenance 2 | Ofte (30–79 %) | I 2 tilstande |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TNXBtenascin XB | Ofte (30–79 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ofte (30–79 %) | I 2 tilstande |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 3 tilstande |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Nogle gange (5–29 %) | I 2 tilstande |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BHLHA9basic helix-loop-helix family member a9 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 2 tilstande |
| CBLCbl proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GJB3gap junction protein beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GJB4gap junction protein beta 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GNAS-AS1GNAS antisense RNA 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Nogle gange (5–29 %) | I 2 tilstande |
| KDSR3-ketodihydrosphingosine reductase | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Nogle gange (5–29 %) | I 1 tilstand |
| MSX2msh homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Nogle gange (5–29 %) | I 2 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Nogle gange (5–29 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RIT1Ras like without CAAX 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRASRAS related | Nogle gange (5–29 %) | I 1 tilstand |
| RRAS2RAS related 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Nogle gange (5–29 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STX16syntaxin 16 | Nogle gange (5–29 %) | I 1 tilstand |
| TASP1taspase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX22T-box transcription factor 22 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Nogle gange (5–29 %) | I 2 tilstande |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Nogle gange (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Nogle gange (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Sjældent (1–4%) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Sjældent (1–4%) | I 1 tilstand |
| CDH11cadherin 11 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Sjældent (1–4%) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Sjældent (1–4%) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ikke registreret | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ikke registreret | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ikke registreret | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ikke registreret | I 1 tilstand |
| EVCEvC ciliary complex subunit 1 | Ikke registreret | I 1 tilstand |
| EVC2EvC ciliary complex subunit 2 | Ikke registreret | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ikke registreret | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Ikke registreret | I 1 tilstand |
| HOXD13homeobox D13 | Ikke registreret | I 3 tilstande |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| IFT57intraflagellar transport 57 | Ikke registreret | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registreret | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registreret | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ikke registreret | I 1 tilstand |
| KDM5Clysine demethylase 5C | Ikke registreret | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 1 tilstand |
| PAPSS23'-phosphoadenosine 5'-phosphosulfate synthase 2 | Ikke registreret | I 1 tilstand |
| PAX3paired box 3 | Ikke registreret | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ikke registreret | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registreret | I 1 tilstand |
| POMPproteasome maturation protein | Ikke registreret | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registreret | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registreret | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Ikke registreret | I 1 tilstand |
| PTHLHparathyroid hormone like hormone | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ikke registreret | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Ikke registreret | I 1 tilstand |
| SLURP1secreted LY6/PLAUR domain containing 1 | Ikke registreret | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ikke registreret | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ikke registreret | I 1 tilstand |
| SPARTspartin | Ikke registreret | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registreret | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ikke registreret | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ikke registreret | I 1 tilstand |
| TNNT3troponin T3, fast skeletal type | Ikke registreret | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registreret | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Snævrere træk
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.17-8666dff2.
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger