Kenmerk
Nasal tip, upturned
Klinische naam: 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).
Samenvatting
- Ook bekend als
- Upturned nasal tip, Upturned nose, Upturned nostrils, Anteverted nose, Anteverted nostrils, Nostrils anteverted, Upturned nares
- Lichaamssysteem
- Abnormality of head or neck
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Nasal tip, upturned voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altijd | In 2 aandoeningen |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altijd | In 1 aandoening |
| ALX4ALX homeobox 4 | Altijd | In 2 aandoeningen |
| ANKRD11ankyrin repeat domain 11 | Altijd | In 3 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Altijd | In 2 aandoeningen |
| ARID1AAT-rich interaction domain 1A | Altijd | In 2 aandoeningen |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altijd | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altijd | In 2 aandoeningen |
| ATRXATRX chromatin remodeler | Altijd | In 3 aandoeningen |
| AXIN1axin 1 | Altijd | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Altijd | In 1 aandoening |
| CDH11cadherin 11 | Altijd | In 1 aandoening |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altijd | In 1 aandoening |
| COL11A2collagen type XI alpha 2 chain | Altijd | In 5 aandoeningen |
| COL27A1collagen type XXVII alpha 1 chain | Altijd | In 1 aandoening |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altijd | In 1 aandoening |
| CUL7cullin 7 | Altijd | In 2 aandoeningen |
| DHCR77-dehydrocholesterol reductase | Altijd | In 2 aandoeningen |
| DNMT3ADNA methyltransferase 3 alpha | Altijd | In 1 aandoening |
| DVL3dishevelled segment polarity protein 3 | Altijd | In 2 aandoeningen |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| EXOSC1exosome component 1 | Altijd | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Altijd | In 3 aandoeningen |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altijd | In 1 aandoening |
| GCSHglycine cleavage system protein H | Altijd | In 1 aandoening |
| HOXB1homeobox B1 | Altijd | In 1 aandoening |
| IKZF2IKAROS family zinc finger 2 | Altijd | In 1 aandoening |
| IL6STinterleukin 6 cytokine family signal transducer | Altijd | In 1 aandoening |
| IRX5iroquois homeobox 5 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Altijd | In 1 aandoening |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KIAA0753KIAA0753 | Altijd | In 2 aandoeningen |
| KLHL15kelch like family member 15 | Altijd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Altijd | In 1 aandoening |
Toon nog 469 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| LIFRLIF receptor subunit alpha | Altijd | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Altijd | In 2 aandoeningen |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Altijd | In 1 aandoening |
| MAB21L1mab-21 like 1 | Altijd | In 2 aandoeningen |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| METTL23methyltransferase 23, arginine | Altijd | In 1 aandoening |
| MICU1mitochondrial calcium uptake 1 | Altijd | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 2 aandoeningen |
| MYMKmyomaker, myoblast fusion factor | Altijd | In 2 aandoeningen |
| NFIAnuclear factor I A | Altijd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 1 aandoening |
| NXNnucleoredoxin | Altijd | In 2 aandoeningen |
| OBSL1obscurin like cytoskeletal adaptor 1 | Altijd | In 2 aandoeningen |
| PAK3p21 (RAC1) activated kinase 3 | Altijd | In 1 aandoening |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altijd | In 2 aandoeningen |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altijd | In 1 aandoening |
| PLCB3phospholipase C beta 3 | Altijd | In 1 aandoening |
| PLECplectin | Altijd | In 1 aandoening |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Altijd | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Altijd | In 1 aandoening |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Altijd | In 1 aandoening |
| RAC3Rac family small GTPase 3 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Altijd | In 2 aandoeningen |
| SATB2SATB homeobox 2 | Altijd | In 2 aandoeningen |
| SC5Dsterol-C5-desaturase | Altijd | In 2 aandoeningen |
| SGSM3small G protein signaling modulator 3 | Altijd | In 1 aandoening |
| SLC13A1solute carrier family 13 member 1 | Altijd | In 1 aandoening |
| SMSspermine synthase | Altijd | In 2 aandoeningen |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Altijd | In 1 aandoening |
| THOC2THO complex subunit 2 | Altijd | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TXNDC15thioredoxin domain containing 15 | Altijd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Altijd | In 1 aandoening |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Altijd | In 1 aandoening |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altijd | In 1 aandoening |
| ACSL4acyl-CoA synthetase long chain family member 4 | Heel vaak (80–99%) | In 1 aandoening |
| ADSLadenylosuccinate lyase | Heel vaak (80–99%) | In 2 aandoeningen |
| AFF4ALF transcription elongation factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| AMMECR1AMMECR nuclear protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| CANT1calcium activated nucleotidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Heel vaak (80–99%) | In 2 aandoeningen |
| CD96CD96 molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| CLCF1cardiotrophin like cytokine factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Heel vaak (80–99%) | In 5 aandoeningen |
| CRLF1cytokine receptor like factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DVL1dishevelled segment polarity protein 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| EHMT1euchromatic histone lysine methyltransferase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FAM20CFAM20C golgi associated secretory pathway kinase | Heel vaak (80–99%) | In 1 aandoening |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FZD2frizzled class receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| GPC6glypican 6 | Heel vaak (80–99%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| HIC1HIC ZBTB transcriptional repressor 1 | Heel vaak (80–99%) | In 1 aandoening |
| IDUAalpha-L-iduronidase | Heel vaak (80–99%) | In 2 aandoeningen |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 5 aandoeningen |
| LTBP3latent transforming growth factor beta binding protein 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Heel vaak (80–99%) | In 2 aandoeningen |
| MN1MN1 proto-oncogene, transcriptional regulator | Heel vaak (80–99%) | In 1 aandoening |
| MYMXmyomixer, myoblast fusion factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Heel vaak (80–99%) | In 1 aandoening |
| NFIXnuclear factor I X | Heel vaak (80–99%) | In 2 aandoeningen |
| NIPBLNIPBL cohesin loading factor | Heel vaak (80–99%) | In 2 aandoeningen |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Heel vaak (80–99%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Heel vaak (80–99%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX14peroxisomal biogenesis factor 14 | Heel vaak (80–99%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Heel vaak (80–99%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Heel vaak (80–99%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Heel vaak (80–99%) | In 1 aandoening |
| PEX3peroxisomal biogenesis factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Heel vaak (80–99%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB18RAB18, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 2 aandoeningen |
| ROR2ROR family WNT receptor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RPS6KA3ribosomal protein S6 kinase A3 | Heel vaak (80–99%) | In 2 aandoeningen |
| SLC26A2solute carrier family 26 member 2 | Heel vaak (80–99%) | In 1 aandoening |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 3 aandoeningen |
| SMC3structural maintenance of chromosomes 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 2 aandoeningen |
| TCF4transcription factor 4 | Heel vaak (80–99%) | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| TWIST2twist family bHLH transcription factor 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| WNT5AWnt family member 5A | Heel vaak (80–99%) | In 2 aandoeningen |
| XYLT1xylosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Heel vaak (80–99%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 2 aandoeningen |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Vaak (30–79%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Vaak (30–79%) | In 2 aandoeningen |
| ADNPactivity dependent neuroprotector homeobox | Vaak (30–79%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Vaak (30–79%) | In 2 aandoeningen |
| ASXL1ASXL transcriptional regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| ASXL3ASXL transcriptional regulator 3 | Vaak (30–79%) | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Vaak (30–79%) | In 1 aandoening |
| BORCS8BLOC-1 related complex subunit 8 | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 2 aandoeningen |
| CBLCbl proto-oncogene | Vaak (30–79%) | In 1 aandoening |
| CERT1ceramide transporter 1 | Vaak (30–79%) | In 1 aandoening |
| CHN1chimerin 1 | Vaak (30–79%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| DICER1dicer 1, ribonuclease III | Vaak (30–79%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Vaak (30–79%) | In 1 aandoening |
| DOCK7dedicator of cytokinesis 7 | Vaak (30–79%) | In 2 aandoeningen |
| DPF2double PHD fingers 2 | Vaak (30–79%) | In 2 aandoeningen |
| EBF3EBF transcription factor 3 | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| ERFETS2 repressor factor | Vaak (30–79%) | In 1 aandoening |
| EXOSC2exosome component 2 | Vaak (30–79%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 2 aandoeningen |
| FGF3fibroblast growth factor 3 | Vaak (30–79%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Vaak (30–79%) | In 3 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 2 aandoeningen |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FRMD4AFERM domain containing 4A | Vaak (30–79%) | In 2 aandoeningen |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 2 aandoeningen |
| GLI3GLI family zinc finger 3 | Vaak (30–79%) | In 2 aandoeningen |
| GLULglutamate-ammonia ligase | Vaak (30–79%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Vaak (30–79%) | In 1 aandoening |
| GNAI1G protein subunit alpha i1 | Vaak (30–79%) | In 1 aandoening |
| GNSglucosamine (N-acetyl)-6-sulfatase | Vaak (30–79%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Vaak (30–79%) | In 2 aandoeningen |
| GPC3glypican 3 | Vaak (30–79%) | In 2 aandoeningen |
| GPC4glypican 4 | Vaak (30–79%) | In 1 aandoening |
| HDAC4histone deacetylase 4 | Vaak (30–79%) | In 2 aandoeningen |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| IFT122intraflagellar transport 122 | Vaak (30–79%) | In 2 aandoeningen |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 1 aandoening |
| IFT52intraflagellar transport 52 | Vaak (30–79%) | In 1 aandoening |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Vaak (30–79%) | In 1 aandoening |
| KDM1Alysine demethylase 1A | Vaak (30–79%) | In 2 aandoeningen |
| KIF14kinesin family member 14 | Vaak (30–79%) | In 1 aandoening |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Vaak (30–79%) | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Vaak (30–79%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Vaak (30–79%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Vaak (30–79%) | In 2 aandoeningen |
| MEGF8multiple EGF like domains 8 | Vaak (30–79%) | In 1 aandoening |
| MID1midline 1 | Vaak (30–79%) | In 2 aandoeningen |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Vaak (30–79%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Vaak (30–79%) | In 2 aandoeningen |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Vaak (30–79%) | In 2 aandoeningen |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Vaak (30–79%) | In 1 aandoening |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Vaak (30–79%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Vaak (30–79%) | In 3 aandoeningen |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Vaak (30–79%) | In 1 aandoening |
| PLK4polo like kinase 4 | Vaak (30–79%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 2 aandoeningen |
| POU4F1POU class 4 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Vaak (30–79%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 1 aandoening |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Vaak (30–79%) | In 2 aandoeningen |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Vaak (30–79%) | In 2 aandoeningen |
| PRKD1protein kinase D1 | Vaak (30–79%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Vaak (30–79%) | In 2 aandoeningen |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 1 aandoening |
| PTPRFprotein tyrosine phosphatase receptor type F | Vaak (30–79%) | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Vaak (30–79%) | In 1 aandoening |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 1 aandoening |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Vaak (30–79%) | In 1 aandoening |
| RECQLRecQ like helicase | Vaak (30–79%) | In 1 aandoening |
| RIC1RIC1 partner of RAB6A GEF complex | Vaak (30–79%) | In 1 aandoening |
| RNF2ring finger protein 2 | Vaak (30–79%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| SETD5SET domain containing 5 | Vaak (30–79%) | In 2 aandoeningen |
| SH3PXD2BSH3 and PX domains 2B | Vaak (30–79%) | In 1 aandoening |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Vaak (30–79%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Vaak (30–79%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Vaak (30–79%) | In 1 aandoening |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Vaak (30–79%) | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Vaak (30–79%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 2 aandoeningen |
| SOX4SRY-box transcription factor 4 | Vaak (30–79%) | In 2 aandoeningen |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Vaak (30–79%) | In 1 aandoening |
| SUMF1sulfatase modifying factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 1 aandoening |
| TBX6T-box transcription factor 6 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM53transmembrane protein 53 | Vaak (30–79%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Vaak (30–79%) | In 2 aandoeningen |
| TRIM33tripartite motif containing 33 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP4tubulin gamma complex component 4 | Vaak (30–79%) | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Vaak (30–79%) | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Vaak (30–79%) | In 1 aandoening |
| WDR19WD repeat domain 19 | Vaak (30–79%) | In 2 aandoeningen |
| WDR26WD repeat domain 26 | Vaak (30–79%) | In 2 aandoeningen |
| WDR35WD repeat domain 35 | Vaak (30–79%) | In 1 aandoening |
| WLSWnt ligand secretion mediator | Vaak (30–79%) | In 1 aandoening |
| ZBTB20zinc finger and BTB domain containing 20 | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 2 aandoeningen |
| ZNF462zinc finger protein 462 | Vaak (30–79%) | In 1 aandoening |
| ZNHIT3zinc finger HIT-type containing 3 | Vaak (30–79%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Soms (5–29%) | In 1 aandoening |
| ACTG2actin gamma 2, smooth muscle | Soms (5–29%) | In 1 aandoening |
| ADGRG6adhesion G protein-coupled receptor G6 | Soms (5–29%) | In 1 aandoening |
| AHI1Abelson helper integration site 1 | Soms (5–29%) | In 3 aandoeningen |
| AKT1AKT serine/threonine kinase 1 | Soms (5–29%) | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Soms (5–29%) | In 2 aandoeningen |
| ARL13BARF like GTPase 13B | Soms (5–29%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Soms (5–29%) | In 2 aandoeningen |
| ARMC9armadillo repeat containing 9 | Soms (5–29%) | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Soms (5–29%) | In 1 aandoening |
| AUTS2activator of transcription and developmental regulator AUTS2 | Soms (5–29%) | In 2 aandoeningen |
| B3GLCTbeta 3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Soms (5–29%) | In 1 aandoening |
| BRF1BRF1 general transcription factor IIIB subunit | Soms (5–29%) | In 1 aandoening |
| BRPF1bromodomain and PHD finger containing 1 | Soms (5–29%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Soms (5–29%) | In 1 aandoening |
| CBY1chibby 1, beta catenin antagonist | Soms (5–29%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 2 aandoeningen |
| CDC42BPBCDC42 binding protein kinase beta | Soms (5–29%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Soms (5–29%) | In 1 aandoening |
| CEP104centrosomal protein 104 | Soms (5–29%) | In 1 aandoening |
| CEP120centrosomal protein 120 | Soms (5–29%) | In 2 aandoeningen |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| CEP41centrosomal protein 41 | Soms (5–29%) | In 2 aandoeningen |
| CHMP1Acharged multivesicular body protein 1A | Soms (5–29%) | In 1 aandoening |
| CNOT3CCR4-NOT transcription complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| COG8component of oligomeric golgi complex 8 | Soms (5–29%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| CPSF3cleavage and polyadenylation specific factor 3 | Soms (5–29%) | In 1 aandoening |
| CRIPTOcripto, EGF-CFC family member | Soms (5–29%) | In 1 aandoening |
| CSNK2A1casein kinase 2 alpha 1 | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 2 aandoeningen |
| DDB1damage specific DNA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| DHX37DEAH-box helicase 37 | Soms (5–29%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 3 aandoeningen |
| DLL1delta like canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| DLL3delta like canonical Notch ligand 3 | Soms (5–29%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FBXO31F-box protein 31 | Soms (5–29%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Soms (5–29%) | In 1 aandoening |
| FHfumarate hydratase | Soms (5–29%) | In 2 aandoeningen |
| FILIP1filamin A interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| FOXH1forkhead box H1 | Soms (5–29%) | In 1 aandoening |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| GAD1glutamate decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Soms (5–29%) | In 1 aandoening |
| GDF11growth differentiation factor 11 | Soms (5–29%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| H3-3AH3.3 histone A | Soms (5–29%) | In 1 aandoening |
| H4C5H4 clustered histone 5 | Soms (5–29%) | In 1 aandoening |
| HES7hes family bHLH transcription factor 7 | Soms (5–29%) | In 1 aandoening |
| HK1hexokinase 1 | Soms (5–29%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Soms (5–29%) | In 1 aandoening |
| IFT56intraflagellar transport 56 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Soms (5–29%) | In 4 aandoeningen |
| INSRinsulin receptor | Soms (5–29%) | In 1 aandoening |
| KATNB1katanin regulatory subunit B1 | Soms (5–29%) | In 1 aandoening |
| KATNIPkatanin interacting protein | Soms (5–29%) | In 2 aandoeningen |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Soms (5–29%) | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Soms (5–29%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Soms (5–29%) | In 1 aandoening |
| KDM4Blysine demethylase 4B | Soms (5–29%) | In 1 aandoening |
| KDM5Alysine demethylase 5A | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 2 aandoeningen |
| KIF15kinesin family member 15 | Soms (5–29%) | In 1 aandoening |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| LMBRD2LMBR1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Soms (5–29%) | In 1 aandoening |
| MED12Lmediator complex subunit 12L | Soms (5–29%) | In 1 aandoening |
| MED27mediator complex subunit 27 | Soms (5–29%) | In 1 aandoening |
| MEF2Cmyocyte enhancer factor 2C | Soms (5–29%) | In 2 aandoeningen |
| MEG3maternally expressed 3 | Soms (5–29%) | In 3 aandoeningen |
| MESP2mesoderm posterior bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| MIPEPmitochondrial intermediate peptidase | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 2 aandoeningen |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MSL3MSL complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Soms (5–29%) | In 1 aandoening |
| NFIBnuclear factor I B | Soms (5–29%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Soms (5–29%) | In 1 aandoening |
| NOVA2NOVA alternative splicing regulator 2 | Soms (5–29%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Soms (5–29%) | In 2 aandoeningen |
| NSRP1nuclear speckle splicing regulatory protein 1 | Soms (5–29%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | Soms (5–29%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Soms (5–29%) | In 1 aandoening |
| PIBF1progesterone immunomodulatory binding factor 1 | Soms (5–29%) | In 1 aandoening |
| PLCH1phospholipase C eta 1 | Soms (5–29%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Soms (5–29%) | In 1 aandoening |
| PTCH1patched 1 | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 2 aandoeningen |
| PURApurine rich element binding protein A | Soms (5–29%) | In 3 aandoeningen |
| PYCR2pyrroline-5-carboxylate reductase 2 | Soms (5–29%) | In 2 aandoeningen |
| RAC1Rac family small GTPase 1 | Soms (5–29%) | In 2 aandoeningen |
| RBM10RNA binding motif protein 10 | Soms (5–29%) | In 2 aandoeningen |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 2 aandoeningen |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 2 aandoeningen |
| RIPPLY2ripply transcriptional repressor 2 | Soms (5–29%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Soms (5–29%) | In 1 aandoening |
| RNF125ring finger protein 125 | Soms (5–29%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Soms (5–29%) | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Soms (5–29%) | In 2 aandoeningen |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 3 aandoeningen |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Soms (5–29%) | In 1 aandoening |
| SIM1SIM bHLH transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 2 aandoeningen |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Soms (5–29%) | In 2 aandoeningen |
| SLC6A11solute carrier family 6 member 11 | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Soms (5–29%) | In 2 aandoeningen |
| TCTN1tectonic family member 1 | Soms (5–29%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Soms (5–29%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Soms (5–29%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Soms (5–29%) | In 1 aandoening |
| TMEM138transmembrane protein 138 | Soms (5–29%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Soms (5–29%) | In 1 aandoening |
| TMEM218transmembrane protein 218 | Soms (5–29%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Soms (5–29%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Soms (5–29%) | In 3 aandoeningen |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 3 aandoeningen |
| TONSLtonsoku like, DNA repair protein | Soms (5–29%) | In 2 aandoeningen |
| TRAF7TNF receptor associated factor 7 | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| TRIP12thyroid hormone receptor interactor 12 | Soms (5–29%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Soms (5–29%) | In 1 aandoening |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Soms (5–29%) | In 1 aandoening |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Soms (5–29%) | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ZNF423zinc finger protein 423 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Zelden (1–4%) | In 1 aandoening |
| ARXaristaless related homeobox | Zelden (1–4%) | In 1 aandoening |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Zelden (1–4%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Zelden (1–4%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Zelden (1–4%) | In 2 aandoeningen |
| CHD2chromodomain helicase DNA binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| DMXL2Dmx like 2 | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| GNAO1G protein subunit alpha o1 | Zelden (1–4%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zelden (1–4%) | In 1 aandoening |
| GRM7glutamate metabotropic receptor 7 | Zelden (1–4%) | In 1 aandoening |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Zelden (1–4%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Zelden (1–4%) | In 1 aandoening |
| MED16mediator complex subunit 16 | Zelden (1–4%) | In 1 aandoening |
| NEUROD2neuronal differentiation 2 | Zelden (1–4%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Zelden (1–4%) | In 2 aandoeningen |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Zelden (1–4%) | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Zelden (1–4%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Zelden (1–4%) | In 1 aandoening |
| SIK1salt inducible kinase 1 | Zelden (1–4%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Zelden (1–4%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Zelden (1–4%) | In 1 aandoening |
| SLC32A1solute carrier family 32 member 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Zelden (1–4%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Zelden (1–4%) | In 1 aandoening |
| ACTBactin beta | Niet vastgelegd | In 1 aandoening |
| AGAaspartylglucosaminidase | Niet vastgelegd | In 1 aandoening |
| ATAD3AATPase family AAA domain containing 3A | Niet vastgelegd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Niet vastgelegd | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Niet vastgelegd | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Niet vastgelegd | In 1 aandoening |
| CEP55centrosomal protein 55 | Niet vastgelegd | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Niet vastgelegd | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Niet vastgelegd | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Niet vastgelegd | In 1 aandoening |
| DNMT3BDNA methyltransferase 3 beta | Niet vastgelegd | In 1 aandoening |
| DOCK3dedicator of cytokinesis 3 | Niet vastgelegd | In 1 aandoening |
| ECEL1endothelin converting enzyme like 1 | Niet vastgelegd | In 1 aandoening |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Niet vastgelegd | In 1 aandoening |
| FLNBfilamin B | Niet vastgelegd | In 1 aandoening |
| GNPATglyceronephosphate O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Niet vastgelegd | In 1 aandoening |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 2 aandoeningen |
| IER3IP1immediate early response 3 interacting protein 1 | Niet vastgelegd | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Niet vastgelegd | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Niet vastgelegd | In 1 aandoening |
| NGLY1N-glycanase 1 | Niet vastgelegd | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| OCLNoccludin | Niet vastgelegd | In 1 aandoening |
| PAM16presequence translocase associated motor 16 | Niet vastgelegd | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| PBX1PBX homeobox 1 | Niet vastgelegd | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Niet vastgelegd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Niet vastgelegd | In 1 aandoening |
| POU1F1POU class 1 homeobox 1 | Niet vastgelegd | In 1 aandoening |
| RALARAS like proto-oncogene A | Niet vastgelegd | In 1 aandoening |
| RBM8ARNA binding motif protein 8A | Niet vastgelegd | In 1 aandoening |
| SEC23ASEC23 homolog A, COPII component | Niet vastgelegd | In 1 aandoening |
| SETBP1SET binding protein 1 | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC25A46solute carrier family 25 member 46 | Niet vastgelegd | In 1 aandoening |
| SLC6A9solute carrier family 6 member 9 | Niet vastgelegd | In 1 aandoening |
| SNX14sorting nexin 14 | Niet vastgelegd | In 1 aandoening |
| TAPT1transmembrane anterior posterior transformation 1 | Niet vastgelegd | In 1 aandoening |
| TMEM70transmembrane protein 70 | Niet vastgelegd | In 1 aandoening |
| TMEM94transmembrane protein 94 | Niet vastgelegd | In 1 aandoening |
| TRRAPtransformation/transcription domain associated protein | Niet vastgelegd | In 1 aandoening |
| UNC80unc-80 subunit of NALCN channel complex | Niet vastgelegd | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 2 aandoeningen |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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