Cecha
Nasal tip, upturned
Nazwa kliniczna: 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).
Podsumowanie
- Znana także jako
- Upturned nasal tip, Upturned nose, Upturned nostrils, Anteverted nose, Anteverted nostrils, Nostrils anteverted, Upturned nares
- Układ organizmu
- Abnormality of head or neck
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test509 genów powiązanych z Nasal tip, upturned
Zmiany w tych genach powodują rzadkie choroby, w których występuje Nasal tip, upturned. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Zawsze | W 2 chorobach |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Zawsze | W 1 chorobie |
| ALX4ALX homeobox 4 | Zawsze | W 2 chorobach |
| ANKRD11ankyrin repeat domain 11 | Zawsze | W 3 chorobach |
| ANTXR1ANTXR cell adhesion molecule 1 | Zawsze | W 2 chorobach |
| ARID1AAT-rich interaction domain 1A | Zawsze | W 2 chorobach |
| ASH1LASH1 like histone lysine methyltransferase | Zawsze | W 1 chorobie |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Zawsze | W 1 chorobie |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Zawsze | W 2 chorobach |
| ATRXATRX chromatin remodeler | Zawsze | W 3 chorobach |
| AXIN1axin 1 | Zawsze | W 1 chorobie |
| BMP2bone morphogenetic protein 2 | Zawsze | W 1 chorobie |
| CDH11cadherin 11 | Zawsze | W 1 chorobie |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| CNOT2CCR4-NOT transcription complex subunit 2 | Zawsze | W 1 chorobie |
| COL11A2collagen type XI alpha 2 chain | Zawsze | W 5 chorobach |
| COL27A1collagen type XXVII alpha 1 chain | Zawsze | W 1 chorobie |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Zawsze | W 1 chorobie |
| CUL7cullin 7 | Zawsze | W 2 chorobach |
| DHCR77-dehydrocholesterol reductase | Zawsze | W 2 chorobach |
| DNMT3ADNA methyltransferase 3 alpha | Zawsze | W 1 chorobie |
| DVL3dishevelled segment polarity protein 3 | Zawsze | W 2 chorobach |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ESAMendothelial cell adhesion molecule | Zawsze | W 1 chorobie |
| EXOSC1exosome component 1 | Zawsze | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Zawsze | W 3 chorobach |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Zawsze | W 1 chorobie |
| GCSHglycine cleavage system protein H | Zawsze | W 1 chorobie |
| HOXB1homeobox B1 | Zawsze | W 1 chorobie |
| IKZF2IKAROS family zinc finger 2 | Zawsze | W 1 chorobie |
| IL6STinterleukin 6 cytokine family signal transducer | Zawsze | W 1 chorobie |
| IRX5iroquois homeobox 5 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KDM6Alysine demethylase 6A | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KIAA0753KIAA0753 | Zawsze | W 2 chorobach |
| KLHL15kelch like family member 15 | Zawsze | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Zawsze | W 1 chorobie |
Pokaż jeszcze 469 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| LIFRLIF receptor subunit alpha | Zawsze | W 1 chorobie |
| LONP1lon peptidase 1, mitochondrial | Zawsze | W 2 chorobach |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Zawsze | W 1 chorobie |
| MAB21L1mab-21 like 1 | Zawsze | W 2 chorobach |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| METTL23methyltransferase 23, arginine | Zawsze | W 1 chorobie |
| MICU1mitochondrial calcium uptake 1 | Zawsze | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Zawsze | W 2 chorobach |
| MYMKmyomaker, myoblast fusion factor | Zawsze | W 2 chorobach |
| NFIAnuclear factor I A | Zawsze | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Zawsze | W 1 chorobie |
| NXNnucleoredoxin | Zawsze | W 2 chorobach |
| OBSL1obscurin like cytoskeletal adaptor 1 | Zawsze | W 2 chorobach |
| PAK3p21 (RAC1) activated kinase 3 | Zawsze | W 1 chorobie |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Zawsze | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 2 chorobach |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Zawsze | W 1 chorobie |
| PLCB3phospholipase C beta 3 | Zawsze | W 1 chorobie |
| PLECplectin | Zawsze | W 1 chorobie |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Zawsze | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Zawsze | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Zawsze | W 1 chorobie |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Zawsze | W 1 chorobie |
| RAC3Rac family small GTPase 3 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Zawsze | W 2 chorobach |
| SATB2SATB homeobox 2 | Zawsze | W 2 chorobach |
| SC5Dsterol-C5-desaturase | Zawsze | W 2 chorobach |
| SGSM3small G protein signaling modulator 3 | Zawsze | W 1 chorobie |
| SLC13A1solute carrier family 13 member 1 | Zawsze | W 1 chorobie |
| SMSspermine synthase | Zawsze | W 2 chorobach |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Zawsze | W 1 chorobie |
| THOC2THO complex subunit 2 | Zawsze | W 1 chorobie |
| TMCO1transmembrane and coiled-coil domains 1 | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TXNDC15thioredoxin domain containing 15 | Zawsze | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Zawsze | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| VPS35LVPS35 endosomal protein sorting factor like | Zawsze | W 1 chorobie |
| VPS51VPS51 subunit of GARP complex | Zawsze | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 1 chorobie |
| ACSL4acyl-CoA synthetase long chain family member 4 | Bardzo często (80–99%) | W 1 chorobie |
| ADSLadenylosuccinate lyase | Bardzo często (80–99%) | W 2 chorobach |
| AFF4ALF transcription elongation factor 4 | Bardzo często (80–99%) | W 2 chorobach |
| AMMECR1AMMECR nuclear protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Bardzo często (80–99%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Bardzo często (80–99%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 2 chorobach |
| BRD4bromodomain containing 4 | Bardzo często (80–99%) | W 2 chorobach |
| CANT1calcium activated nucleotidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Bardzo często (80–99%) | W 2 chorobach |
| CD96CD96 molecule | Bardzo często (80–99%) | W 2 chorobach |
| CLCF1cardiotrophin like cytokine factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Bardzo często (80–99%) | W 5 chorobach |
| CRLF1cytokine receptor like factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Bardzo często (80–99%) | W 2 chorobach |
| DVL1dishevelled segment polarity protein 1 | Bardzo często (80–99%) | W 3 chorobach |
| EHMT1euchromatic histone lysine methyltransferase 1 | Bardzo często (80–99%) | W 2 chorobach |
| FAM20CFAM20C golgi associated secretory pathway kinase | Bardzo często (80–99%) | W 1 chorobie |
| FBN1fibrillin 1 | Bardzo często (80–99%) | W 4 chorobach |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| FZD2frizzled class receptor 2 | Bardzo często (80–99%) | W 1 chorobie |
| GPC6glypican 6 | Bardzo często (80–99%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 2 chorobach |
| HIC1HIC ZBTB transcriptional repressor 1 | Bardzo często (80–99%) | W 1 chorobie |
| IDUAalpha-L-iduronidase | Bardzo często (80–99%) | W 2 chorobach |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Bardzo często (80–99%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 5 chorobach |
| LTBP3latent transforming growth factor beta binding protein 3 | Bardzo często (80–99%) | W 3 chorobach |
| MAP2K1mitogen-activated protein kinase kinase 1 | Bardzo często (80–99%) | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Bardzo często (80–99%) | W 2 chorobach |
| MAU2MAU2 sister chromatid cohesion factor | Bardzo często (80–99%) | W 2 chorobach |
| MN1MN1 proto-oncogene, transcriptional regulator | Bardzo często (80–99%) | W 1 chorobie |
| MYMXmyomixer, myoblast fusion factor | Bardzo często (80–99%) | W 2 chorobach |
| NALCNsodium leak channel, non-selective | Bardzo często (80–99%) | W 1 chorobie |
| NFIXnuclear factor I X | Bardzo często (80–99%) | W 2 chorobach |
| NIPBLNIPBL cohesin loading factor | Bardzo często (80–99%) | W 2 chorobach |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| PEX10peroxisomal biogenesis factor 10 | Bardzo często (80–99%) | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Bardzo często (80–99%) | W 1 chorobie |
| PEX12peroxisomal biogenesis factor 12 | Bardzo często (80–99%) | W 1 chorobie |
| PEX13peroxisomal biogenesis factor 13 | Bardzo często (80–99%) | W 2 chorobach |
| PEX14peroxisomal biogenesis factor 14 | Bardzo często (80–99%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Bardzo często (80–99%) | W 1 chorobie |
| PEX19peroxisomal biogenesis factor 19 | Bardzo często (80–99%) | W 1 chorobie |
| PEX2peroxisomal biogenesis factor 2 | Bardzo często (80–99%) | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Bardzo często (80–99%) | W 1 chorobie |
| PEX3peroxisomal biogenesis factor 3 | Bardzo często (80–99%) | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Bardzo często (80–99%) | W 2 chorobach |
| PEX6peroxisomal biogenesis factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Bardzo często (80–99%) | W 2 chorobach |
| RAB18RAB18, member RAS oncogene family | Bardzo często (80–99%) | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Bardzo często (80–99%) | W 2 chorobach |
| ROR2ROR family WNT receptor 2 | Bardzo często (80–99%) | W 2 chorobach |
| RPS6KA3ribosomal protein S6 kinase A3 | Bardzo często (80–99%) | W 2 chorobach |
| SLC26A2solute carrier family 26 member 2 | Bardzo często (80–99%) | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Bardzo często (80–99%) | W 3 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Bardzo często (80–99%) | W 3 chorobach |
| SMC3structural maintenance of chromosomes 3 | Bardzo często (80–99%) | W 2 chorobach |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 2 chorobach |
| TBC1D24TBC1 domain family member 24 | Bardzo często (80–99%) | W 2 chorobach |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 1 chorobie |
| TRIP11thyroid hormone receptor interactor 11 | Bardzo często (80–99%) | W 2 chorobach |
| TWIST2twist family bHLH transcription factor 2 | Bardzo często (80–99%) | W 3 chorobach |
| WNT5AWnt family member 5A | Bardzo często (80–99%) | W 2 chorobach |
| XYLT1xylosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Bardzo często (80–99%) | W 1 chorobie |
| ABCC9ATP binding cassette subfamily C member 9 | Często (30–79%) | W 2 chorobach |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Często (30–79%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Często (30–79%) | W 2 chorobach |
| ADNPactivity dependent neuroprotector homeobox | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 2 chorobach |
| ASXL1ASXL transcriptional regulator 1 | Często (30–79%) | W 2 chorobach |
| ASXL3ASXL transcriptional regulator 3 | Często (30–79%) | W 1 chorobie |
| B3GALT6beta-1,3-galactosyltransferase 6 | Często (30–79%) | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Często (30–79%) | W 1 chorobie |
| CAMTA1calmodulin binding transcription activator 1 | Często (30–79%) | W 2 chorobach |
| CBLCbl proto-oncogene | Często (30–79%) | W 1 chorobie |
| CERT1ceramide transporter 1 | Często (30–79%) | W 1 chorobie |
| CHN1chimerin 1 | Często (30–79%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Często (30–79%) | W 2 chorobach |
| DICER1dicer 1, ribonuclease III | Często (30–79%) | W 1 chorobie |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Często (30–79%) | W 1 chorobie |
| DOCK7dedicator of cytokinesis 7 | Często (30–79%) | W 2 chorobach |
| DPF2double PHD fingers 2 | Często (30–79%) | W 2 chorobach |
| EBF3EBF transcription factor 3 | Często (30–79%) | W 1 chorobie |
| ELNelastin | Często (30–79%) | W 1 chorobie |
| ERFETS2 repressor factor | Często (30–79%) | W 1 chorobie |
| EXOSC2exosome component 2 | Często (30–79%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Często (30–79%) | W 2 chorobach |
| FGF3fibroblast growth factor 3 | Często (30–79%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 3 chorobach |
| FGFR3fibroblast growth factor receptor 3 | Często (30–79%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Często (30–79%) | W 2 chorobach |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FRMD4AFERM domain containing 4A | Często (30–79%) | W 2 chorobach |
| GBA1glucosylceramidase beta 1 | Często (30–79%) | W 2 chorobach |
| GJA1gap junction protein alpha 1 | Często (30–79%) | W 2 chorobach |
| GLI3GLI family zinc finger 3 | Często (30–79%) | W 2 chorobach |
| GLULglutamate-ammonia ligase | Często (30–79%) | W 1 chorobie |
| GMNNgeminin DNA replication inhibitor | Często (30–79%) | W 1 chorobie |
| GNAI1G protein subunit alpha i1 | Często (30–79%) | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Często (30–79%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Często (30–79%) | W 2 chorobach |
| GPC3glypican 3 | Często (30–79%) | W 2 chorobach |
| GPC4glypican 4 | Często (30–79%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Często (30–79%) | W 2 chorobach |
| HIVEP2HIVEP zinc finger 2 | Często (30–79%) | W 1 chorobie |
| IFT122intraflagellar transport 122 | Często (30–79%) | W 2 chorobach |
| IFT43intraflagellar transport 43 | Często (30–79%) | W 1 chorobie |
| IFT52intraflagellar transport 52 | Często (30–79%) | W 1 chorobie |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Często (30–79%) | W 1 chorobie |
| KDM1Alysine demethylase 1A | Często (30–79%) | W 2 chorobach |
| KIF14kinesin family member 14 | Często (30–79%) | W 1 chorobie |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Często (30–79%) | W 1 chorobie |
| MAFBMAF bZIP transcription factor B | Często (30–79%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Często (30–79%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Często (30–79%) | W 2 chorobach |
| MEGF8multiple EGF like domains 8 | Często (30–79%) | W 1 chorobie |
| MID1midline 1 | Często (30–79%) | W 2 chorobach |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| NOTCH2notch receptor 2 | Często (30–79%) | W 2 chorobach |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Często (30–79%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Często (30–79%) | W 2 chorobach |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Często (30–79%) | W 2 chorobach |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Często (30–79%) | W 1 chorobie |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Często (30–79%) | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Często (30–79%) | W 3 chorobach |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Często (30–79%) | W 1 chorobie |
| PLK4polo like kinase 4 | Często (30–79%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 2 chorobach |
| POU4F1POU class 4 homeobox 1 | Często (30–79%) | W 1 chorobie |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Często (30–79%) | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Często (30–79%) | W 2 chorobach |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Często (30–79%) | W 2 chorobach |
| PRKD1protein kinase D1 | Często (30–79%) | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Często (30–79%) | W 2 chorobach |
| PTH1Rparathyroid hormone 1 receptor | Często (30–79%) | W 1 chorobie |
| PTPRFprotein tyrosine phosphatase receptor type F | Często (30–79%) | W 1 chorobie |
| PUS7pseudouridine synthase 7 | Często (30–79%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Często (30–79%) | W 1 chorobie |
| RECQLRecQ like helicase | Często (30–79%) | W 1 chorobie |
| RIC1RIC1 partner of RAB6A GEF complex | Często (30–79%) | W 1 chorobie |
| RNF2ring finger protein 2 | Często (30–79%) | W 1 chorobie |
| SALL4spalt like transcription factor 4 | Często (30–79%) | W 1 chorobie |
| SETD5SET domain containing 5 | Często (30–79%) | W 2 chorobach |
| SH3PXD2BSH3 and PX domains 2B | Często (30–79%) | W 1 chorobie |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Często (30–79%) | W 1 chorobie |
| SLC29A3solute carrier family 29 member 3 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 2 chorobach |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 2 chorobach |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 2 chorobach |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Często (30–79%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Często (30–79%) | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Często (30–79%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 2 chorobach |
| SOX4SRY-box transcription factor 4 | Często (30–79%) | W 2 chorobach |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Często (30–79%) | W 1 chorobie |
| SUMF1sulfatase modifying factor 1 | Często (30–79%) | W 2 chorobach |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 2 chorobach |
| TBCKTBC1 domain containing kinase | Często (30–79%) | W 1 chorobie |
| TBX6T-box transcription factor 6 | Często (30–79%) | W 2 chorobach |
| TMEM53transmembrane protein 53 | Często (30–79%) | W 1 chorobie |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Często (30–79%) | W 2 chorobach |
| TRIM33tripartite motif containing 33 | Często (30–79%) | W 1 chorobie |
| TUBGCP4tubulin gamma complex component 4 | Często (30–79%) | W 1 chorobie |
| TUBGCP6tubulin gamma complex component 6 | Często (30–79%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Często (30–79%) | W 1 chorobie |
| WDR19WD repeat domain 19 | Często (30–79%) | W 2 chorobach |
| WDR26WD repeat domain 26 | Często (30–79%) | W 2 chorobach |
| WDR35WD repeat domain 35 | Często (30–79%) | W 1 chorobie |
| WLSWnt ligand secretion mediator | Często (30–79%) | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 2 chorobach |
| ZNF462zinc finger protein 462 | Często (30–79%) | W 1 chorobie |
| ZNHIT3zinc finger HIT-type containing 3 | Często (30–79%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| ACTG2actin gamma 2, smooth muscle | Czasami (5–29%) | W 1 chorobie |
| ADGRG6adhesion G protein-coupled receptor G6 | Czasami (5–29%) | W 1 chorobie |
| AHI1Abelson helper integration site 1 | Czasami (5–29%) | W 3 chorobach |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Czasami (5–29%) | W 2 chorobach |
| ARL13BARF like GTPase 13B | Czasami (5–29%) | W 1 chorobie |
| ARL3ARF like GTPase 3 | Czasami (5–29%) | W 2 chorobach |
| ARMC9armadillo repeat containing 9 | Czasami (5–29%) | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Czasami (5–29%) | W 1 chorobie |
| AUTS2activator of transcription and developmental regulator AUTS2 | Czasami (5–29%) | W 2 chorobach |
| B3GLCTbeta 3-glucosyltransferase | Czasami (5–29%) | W 1 chorobie |
| B9D1B9 domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| B9D2B9 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| BAP1BRCA1 associated deubiquitinase 1 | Czasami (5–29%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Czasami (5–29%) | W 1 chorobie |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Czasami (5–29%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 1 chorobie |
| BRPF1bromodomain and PHD finger containing 1 | Czasami (5–29%) | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Czasami (5–29%) | W 1 chorobie |
| CBY1chibby 1, beta catenin antagonist | Czasami (5–29%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Czasami (5–29%) | W 2 chorobach |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Czasami (5–29%) | W 1 chorobie |
| CEP104centrosomal protein 104 | Czasami (5–29%) | W 1 chorobie |
| CEP120centrosomal protein 120 | Czasami (5–29%) | W 2 chorobach |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 1 chorobie |
| CEP41centrosomal protein 41 | Czasami (5–29%) | W 2 chorobach |
| CHMP1Acharged multivesicular body protein 1A | Czasami (5–29%) | W 1 chorobie |
| CNOT3CCR4-NOT transcription complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| COG8component of oligomeric golgi complex 8 | Czasami (5–29%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| CPSF3cleavage and polyadenylation specific factor 3 | Czasami (5–29%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Czasami (5–29%) | W 1 chorobie |
| CSNK2A1casein kinase 2 alpha 1 | Czasami (5–29%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| DDB1damage specific DNA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| DHX37DEAH-box helicase 37 | Czasami (5–29%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Czasami (5–29%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 3 chorobach |
| DLL1delta like canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| DLL3delta like canonical Notch ligand 3 | Czasami (5–29%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| FAM149B1family with sequence similarity 149 member B1 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FBXO31F-box protein 31 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 1 chorobie |
| FHfumarate hydratase | Czasami (5–29%) | W 2 chorobach |
| FILIP1filamin A interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| FOXH1forkhead box H1 | Czasami (5–29%) | W 1 chorobie |
| FRYLFRY like transcription coactivator | Czasami (5–29%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Czasami (5–29%) | W 1 chorobie |
| GDF11growth differentiation factor 11 | Czasami (5–29%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| H3-3AH3.3 histone A | Czasami (5–29%) | W 1 chorobie |
| H4C5H4 clustered histone 5 | Czasami (5–29%) | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Czasami (5–29%) | W 1 chorobie |
| HK1hexokinase 1 | Czasami (5–29%) | W 1 chorobie |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Czasami (5–29%) | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Czasami (5–29%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Czasami (5–29%) | W 4 chorobach |
| INSRinsulin receptor | Czasami (5–29%) | W 1 chorobie |
| KATNB1katanin regulatory subunit B1 | Czasami (5–29%) | W 1 chorobie |
| KATNIPkatanin interacting protein | Czasami (5–29%) | W 2 chorobach |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KCTD1potassium channel tetramerization domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| KDM4Blysine demethylase 4B | Czasami (5–29%) | W 1 chorobie |
| KDM5Alysine demethylase 5A | Czasami (5–29%) | W 1 chorobie |
| KIAA0586KIAA0586 | Czasami (5–29%) | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 2 chorobach |
| KIF15kinesin family member 15 | Czasami (5–29%) | W 1 chorobie |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| LMBRD2LMBR1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Czasami (5–29%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| MED12Lmediator complex subunit 12L | Czasami (5–29%) | W 1 chorobie |
| MED27mediator complex subunit 27 | Czasami (5–29%) | W 1 chorobie |
| MEF2Cmyocyte enhancer factor 2C | Czasami (5–29%) | W 2 chorobach |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 3 chorobach |
| MESP2mesoderm posterior bHLH transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| MIPEPmitochondrial intermediate peptidase | Czasami (5–29%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MSL3MSL complex subunit 3 | Czasami (5–29%) | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| NFIBnuclear factor I B | Czasami (5–29%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Czasami (5–29%) | W 1 chorobie |
| NOVA2NOVA alternative splicing regulator 2 | Czasami (5–29%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Czasami (5–29%) | W 2 chorobach |
| NSRP1nuclear speckle splicing regulatory protein 1 | Czasami (5–29%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Czasami (5–29%) | W 1 chorobie |
| PAHphenylalanine hydroxylase | Czasami (5–29%) | W 1 chorobie |
| PDE6Dphosphodiesterase 6D | Czasami (5–29%) | W 1 chorobie |
| PIBF1progesterone immunomodulatory binding factor 1 | Czasami (5–29%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Czasami (5–29%) | W 1 chorobie |
| POLRMTRNA polymerase mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| PTCH1patched 1 | Czasami (5–29%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 2 chorobach |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 3 chorobach |
| PYCR2pyrroline-5-carboxylate reductase 2 | Czasami (5–29%) | W 2 chorobach |
| RAC1Rac family small GTPase 1 | Czasami (5–29%) | W 2 chorobach |
| RBM10RNA binding motif protein 10 | Czasami (5–29%) | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 2 chorobach |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 2 chorobach |
| RIPPLY2ripply transcriptional repressor 2 | Czasami (5–29%) | W 1 chorobie |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Czasami (5–29%) | W 1 chorobie |
| RNF125ring finger protein 125 | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Czasami (5–29%) | W 2 chorobach |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 3 chorobach |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Czasami (5–29%) | W 1 chorobie |
| SIM1SIM bHLH transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Czasami (5–29%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| SKISKI proto-oncogene | Czasami (5–29%) | W 2 chorobach |
| SLC4A10solute carrier family 4 member 10 | Czasami (5–29%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 2 chorobach |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| SPOPspeckle type BTB/POZ protein | Czasami (5–29%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Czasami (5–29%) | W 2 chorobach |
| TCTN1tectonic family member 1 | Czasami (5–29%) | W 1 chorobie |
| TCTN2tectonic family member 2 | Czasami (5–29%) | W 1 chorobie |
| TCTN3tectonic family member 3 | Czasami (5–29%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM138transmembrane protein 138 | Czasami (5–29%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Czasami (5–29%) | W 1 chorobie |
| TMEM218transmembrane protein 218 | Czasami (5–29%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Czasami (5–29%) | W 1 chorobie |
| TMEM237transmembrane protein 237 | Czasami (5–29%) | W 3 chorobach |
| TMEM67transmembrane protein 67 | Czasami (5–29%) | W 3 chorobach |
| TONSLtonsoku like, DNA repair protein | Czasami (5–29%) | W 2 chorobach |
| TRAF7TNF receptor associated factor 7 | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| TRIP12thyroid hormone receptor interactor 12 | Czasami (5–29%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Czasami (5–29%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Czasami (5–29%) | W 1 chorobie |
| ZMYM2zinc finger MYM-type containing 2 | Czasami (5–29%) | W 1 chorobie |
| ZNF292zinc finger protein 292 | Czasami (5–29%) | W 1 chorobie |
| ZNF423zinc finger protein 423 | Czasami (5–29%) | W 1 chorobie |
| ZNF699zinc finger protein 699 | Czasami (5–29%) | W 1 chorobie |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Rzadko (1–4%) | W 1 chorobie |
| ARXaristaless related homeobox | Rzadko (1–4%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Rzadko (1–4%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Rzadko (1–4%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Rzadko (1–4%) | W 2 chorobach |
| CHD2chromodomain helicase DNA binding protein 2 | Rzadko (1–4%) | W 1 chorobie |
| DMXL2Dmx like 2 | Rzadko (1–4%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Rzadko (1–4%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Rzadko (1–4%) | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Rzadko (1–4%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Rzadko (1–4%) | W 1 chorobie |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Rzadko (1–4%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Rzadko (1–4%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Rzadko (1–4%) | W 1 chorobie |
| NEUROD2neuronal differentiation 2 | Rzadko (1–4%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Rzadko (1–4%) | W 2 chorobach |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Rzadko (1–4%) | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Rzadko (1–4%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| SIK1salt inducible kinase 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC25A22solute carrier family 25 member 22 | Rzadko (1–4%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC32A1solute carrier family 32 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rzadko (1–4%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rzadko (1–4%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Rzadko (1–4%) | W 1 chorobie |
| ACTBactin beta | Nie odnotowano | W 1 chorobie |
| AGAaspartylglucosaminidase | Nie odnotowano | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Nie odnotowano | W 1 chorobie |
| BLTP1bridge-like lipid transfer protein family member 1 | Nie odnotowano | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Nie odnotowano | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nie odnotowano | W 1 chorobie |
| CEP55centrosomal protein 55 | Nie odnotowano | W 1 chorobie |
| COG1component of oligomeric golgi complex 1 | Nie odnotowano | W 1 chorobie |
| COL2A1collagen type II alpha 1 chain | Nie odnotowano | W 1 chorobie |
| DDX3XDEAD-box helicase 3 X-linked | Nie odnotowano | W 1 chorobie |
| DHCR2424-dehydrocholesterol reductase | Nie odnotowano | W 1 chorobie |
| DNMT3BDNA methyltransferase 3 beta | Nie odnotowano | W 1 chorobie |
| DOCK3dedicator of cytokinesis 3 | Nie odnotowano | W 1 chorobie |
| ECEL1endothelin converting enzyme like 1 | Nie odnotowano | W 1 chorobie |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Nie odnotowano | W 1 chorobie |
| FLNBfilamin B | Nie odnotowano | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Nie odnotowano | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nie odnotowano | W 1 chorobie |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Nie odnotowano | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Nie odnotowano | W 2 chorobach |
| IER3IP1immediate early response 3 interacting protein 1 | Nie odnotowano | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Nie odnotowano | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nie odnotowano | W 1 chorobie |
| NGLY1N-glycanase 1 | Nie odnotowano | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| OCLNoccludin | Nie odnotowano | W 1 chorobie |
| PAM16presequence translocase associated motor 16 | Nie odnotowano | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| PBX1PBX homeobox 1 | Nie odnotowano | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nie odnotowano | W 1 chorobie |
| POU1F1POU class 1 homeobox 1 | Nie odnotowano | W 1 chorobie |
| RALARAS like proto-oncogene A | Nie odnotowano | W 1 chorobie |
| RBM8ARNA binding motif protein 8A | Nie odnotowano | W 1 chorobie |
| SEC23ASEC23 homolog A, COPII component | Nie odnotowano | W 1 chorobie |
| SETBP1SET binding protein 1 | Nie odnotowano | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Nie odnotowano | W 1 chorobie |
| SLC17A5solute carrier family 17 member 5 | Nie odnotowano | W 1 chorobie |
| SLC25A46solute carrier family 25 member 46 | Nie odnotowano | W 1 chorobie |
| SLC6A9solute carrier family 6 member 9 | Nie odnotowano | W 1 chorobie |
| SNX14sorting nexin 14 | Nie odnotowano | W 1 chorobie |
| TAPT1transmembrane anterior posterior transformation 1 | Nie odnotowano | W 1 chorobie |
| TMEM70transmembrane protein 70 | Nie odnotowano | W 1 chorobie |
| TMEM94transmembrane protein 94 | Nie odnotowano | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Nie odnotowano | W 1 chorobie |
| UNC80unc-80 subunit of NALCN channel complex | Nie odnotowano | W 1 chorobie |
| ZBTB24zinc finger and BTB domain containing 24 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 2 chorobach |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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