AtlasHvem vi hjælperVores videnskabProdukterResultater
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Træk
Nasal tip, upturned
Klinisk navn: Anteverted nares
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Resumé
- Også kaldet
- Upturned nasal tip, Upturned nose, Upturned nostrils, Anteverted nose, Anteverted nostrils, Nostrils anteverted, Upturned nares
- Kropssystem
- Abnormality of head or neck
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/anteverted-nares.json"
page <- fromJSON(url)
page$trait$nameNasal tip, upturnedHP:0000463
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Nasal tip, upturned, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test509 gener knyttet til Nasal tip, upturned
Ændringer i disse gener forårsager sjældne tilstande, hvor Nasal tip, upturned 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 2 tilstande |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altid | I 1 tilstand |
| ALX4ALX homeobox 4 | Altid | I 2 tilstande |
| ANKRD11ankyrin repeat domain 11 | Altid | I 3 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Altid | I 2 tilstande |
| ARID1AAT-rich interaction domain 1A | Altid | I 2 tilstande |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altid | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altid | I 2 tilstande |
| ATRXATRX chromatin remodeler | Altid | I 3 tilstande |
| AXIN1axin 1 | Altid | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Altid | I 1 tilstand |
| CDH11cadherin 11 | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altid | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Altid | I 5 tilstande |
| COL27A1collagen type XXVII alpha 1 chain | Altid | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altid | I 1 tilstand |
| CUL7cullin 7 | Altid | I 2 tilstande |
| DHCR77-dehydrocholesterol reductase | Altid | I 2 tilstande |
| DNMT3ADNA methyltransferase 3 alpha | Altid | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Altid | I 2 tilstande |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| EXOSC1exosome component 1 | Altid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 3 tilstande |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altid | I 1 tilstand |
| GCSHglycine cleavage system protein H | Altid | I 1 tilstand |
| HOXB1homeobox B1 | Altid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Altid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIAA0753KIAA0753 | Altid | I 2 tilstande |
| KLHL15kelch like family member 15 | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 1 tilstand |
Vis 469 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LIFRLIF receptor subunit alpha | Altid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Altid | I 2 tilstande |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altid | I 1 tilstand |
| MAB21L1mab-21 like 1 | Altid | I 2 tilstande |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| METTL23methyltransferase 23, arginine | Altid | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Altid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 2 tilstande |
| MYMKmyomaker, myoblast fusion factor | Altid | I 2 tilstande |
| NFIAnuclear factor I A | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 1 tilstand |
| NXNnucleoredoxin | Altid | I 2 tilstande |
| OBSL1obscurin like cytoskeletal adaptor 1 | Altid | I 2 tilstande |
| PAK3p21 (RAC1) activated kinase 3 | Altid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 2 tilstande |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altid | I 1 tilstand |
| PLCB3phospholipase C beta 3 | Altid | I 1 tilstand |
| PLECplectin | Altid | I 1 tilstand |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altid | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Altid | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Altid | I 2 tilstande |
| SATB2SATB homeobox 2 | Altid | I 2 tilstande |
| SC5Dsterol-C5-desaturase | Altid | I 2 tilstande |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SLC13A1solute carrier family 13 member 1 | Altid | I 1 tilstand |
| SMSspermine synthase | Altid | I 2 tilstande |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| THOC2THO complex subunit 2 | Altid | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Altid | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Altid | I 1 tilstand |
| VPS51VPS51 subunit of GARP complex | Altid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| AFF4ALF transcription elongation factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| AMMECR1AMMECR nuclear protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 2 tilstande |
| CANT1calcium activated nucleotidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Meget ofte (80–99 %) | I 2 tilstande |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 2 tilstande |
| CLCF1cardiotrophin like cytokine factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Meget ofte (80–99 %) | I 5 tilstande |
| CRLF1cytokine receptor like factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FAM20CFAM20C golgi associated secretory pathway kinase | Meget ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 4 tilstande |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FZD2frizzled class receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GPC6glypican 6 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 2 tilstande |
| HIC1HIC ZBTB transcriptional repressor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Meget ofte (80–99 %) | I 2 tilstande |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 5 tilstande |
| LTBP3latent transforming growth factor beta binding protein 3 | Meget ofte (80–99 %) | I 3 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Meget ofte (80–99 %) | I 2 tilstande |
| MN1MN1 proto-oncogene, transcriptional regulator | Meget ofte (80–99 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Meget ofte (80–99 %) | I 2 tilstande |
| NALCNsodium leak channel, non-selective | Meget ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 2 tilstande |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 2 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 2 tilstande |
| ROR2ROR family WNT receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC26A2solute carrier family 26 member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Meget ofte (80–99 %) | I 3 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 3 tilstande |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 2 tilstande |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Meget ofte (80–99 %) | I 2 tilstande |
| TWIST2twist family bHLH transcription factor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| WNT5AWnt family member 5A | Meget ofte (80–99 %) | I 2 tilstande |
| XYLT1xylosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 2 tilstande |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 2 tilstande |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstande |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CERT1ceramide transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| CHN1chimerin 1 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| DICER1dicer 1, ribonuclease III | Ofte (30–79 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 2 tilstande |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| ERFETS2 repressor factor | Ofte (30–79 %) | I 1 tilstand |
| EXOSC2exosome component 2 | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 2 tilstande |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ofte (30–79 %) | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 2 tilstande |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstande |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| GNAI1G protein subunit alpha i1 | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 2 tilstande |
| GPC3glypican 3 | Ofte (30–79 %) | I 2 tilstande |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 2 tilstande |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 2 tilstande |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 2 tilstande |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Ofte (30–79 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ofte (30–79 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstande |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| MID1midline 1 | Ofte (30–79 %) | I 2 tilstande |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 2 tilstande |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 2 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ofte (30–79 %) | I 1 tilstand |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 3 tilstande |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstande |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Ofte (30–79 %) | I 2 tilstande |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| PRKD1protein kinase D1 | Ofte (30–79 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 2 tilstande |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| PTPRFprotein tyrosine phosphatase receptor type F | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | Ofte (30–79 %) | I 1 tilstand |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 2 tilstande |
| SH3PXD2BSH3 and PX domains 2B | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstande |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 2 tilstande |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 2 tilstande |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 2 tilstande |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Ofte (30–79 %) | I 2 tilstande |
| TMEM53transmembrane protein 53 | Ofte (30–79 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ofte (30–79 %) | I 2 tilstande |
| TRIM33tripartite motif containing 33 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ofte (30–79 %) | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 2 tilstande |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 2 tilstande |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 2 tilstande |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Nogle gange (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 3 tilstande |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 2 tilstande |
| B3GLCTbeta 3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Nogle gange (5–29 %) | I 2 tilstande |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 2 tilstande |
| CHMP1Acharged multivesicular body protein 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | 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 |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 2 tilstande |
| DDB1damage specific DNA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Nogle gange (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 3 tilstande |
| DLL1delta like canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO31F-box protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Nogle gange (5–29 %) | I 2 tilstande |
| FILIP1filamin A interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HK1hexokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Nogle gange (5–29 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Nogle gange (5–29 %) | I 4 tilstande |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Nogle gange (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 2 tilstande |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MED27mediator complex subunit 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Nogle gange (5–29 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 3 tilstande |
| MESP2mesoderm posterior bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NFIBnuclear factor I B | Nogle gange (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Nogle gange (5–29 %) | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NSRP1nuclear speckle splicing regulatory protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 2 tilstande |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 3 tilstande |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RBM10RNA binding motif protein 10 | Nogle gange (5–29 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 2 tilstande |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RIPPLY2ripply transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Nogle gange (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Nogle gange (5–29 %) | I 2 tilstande |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 3 tilstande |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 2 tilstande |
| SLC4A10solute carrier family 4 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 2 tilstande |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Nogle gange (5–29 %) | I 3 tilstande |
| TMEM67transmembrane protein 67 | Nogle gange (5–29 %) | I 3 tilstande |
| TONSLtonsoku like, DNA repair protein | Nogle gange (5–29 %) | I 2 tilstande |
| TRAF7TNF receptor associated factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF423zinc finger protein 423 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| ARXaristaless related homeobox | Sjældent (1–4%) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjældent (1–4%) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Sjældent (1–4%) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Sjældent (1–4%) | I 2 tilstande |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| DMXL2Dmx like 2 | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Sjældent (1–4%) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjældent (1–4%) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sjældent (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjældent (1–4%) | I 1 tilstand |
| MED16mediator complex subunit 16 | Sjældent (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 2 tilstande |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjældent (1–4%) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjældent (1–4%) | I 1 tilstand |
| ACTBactin beta | Ikke registreret | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| CEP55centrosomal protein 55 | Ikke registreret | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ikke registreret | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registreret | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ikke registreret | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Ikke registreret | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Ikke registreret | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ikke registreret | I 1 tilstand |
| ECEL1endothelin converting enzyme like 1 | Ikke registreret | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registreret | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registreret | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 2 tilstande |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registreret | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Ikke registreret | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ikke registreret | I 1 tilstand |
| NGLY1N-glycanase 1 | Ikke registreret | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registreret | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Ikke registreret | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Ikke registreret | I 1 tilstand |
| SETBP1SET binding protein 1 | Ikke registreret | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registreret | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SNX14sorting nexin 14 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 2 tilstande |
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.
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.
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