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Træk
Prominent forehead
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Resumé
- Også kaldet
- Bulging forehead, Pronounced forehead, Protruding forehead, Prominence of frontal region
- Kropssystem
- Abnormality of head or neck
Prominent foreheadHP:0011220
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Read the genes linked to Prominent forehead, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test283 gener knyttet til Prominent forehead
Ændringer i disse gener forårsager sjældne tilstande, hvor Prominent forehead 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 |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Altid | I 3 tilstande |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altid | I 2 tilstande |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 3 tilstande |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Altid | I 2 tilstande |
| CEP57centrosomal protein 57 | Altid | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Altid | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Altid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Altid | I 3 tilstande |
| DPH1diphthamide biosynthesis 1 | Altid | I 2 tilstande |
| DPH2diphthamide biosynthesis 2 | Altid | I 2 tilstande |
| DRG1developmentally regulated GTP binding protein 1 | Altid | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Altid | I 1 tilstand |
| EDAectodysplasin A | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Altid | I 2 tilstande |
| EXOSC2exosome component 2 | Altid | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Altid | I 3 tilstande |
| FAT4FAT atypical cadherin 4 | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 2 tilstande |
| FLNAfilamin A | Altid | I 3 tilstande |
| FOXP1forkhead box P1 | Altid | I 2 tilstande |
| GOLGA2golgin A2 | Altid | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Altid | I 2 tilstande |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| IL2RAinterleukin 2 receptor subunit alpha | Altid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| KDM1Alysine demethylase 1A | Altid | I 2 tilstande |
| KLHL20kelch like family member 20 | Altid | I 1 tilstand |
| KPTNkaptin, actin binding protein | Altid | I 2 tilstande |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Altid | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Altid | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Altid | I 1 tilstand |
Vis 243 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PEPDpeptidase D | Altid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Altid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Altid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Altid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Altid | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 2 tilstande |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Altid | I 3 tilstande |
| RRAGCRas related GTP binding C | Altid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Altid | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Altid | I 2 tilstande |
| SONSON DNA and RNA binding protein | Altid | I 2 tilstande |
| SP7Sp7 transcription factor | Altid | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Altid | I 2 tilstande |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TMEM53transmembrane protein 53 | Altid | I 1 tilstand |
| TTC7Atetratricopeptide repeat domain 7A | Altid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Altid | I 2 tilstande |
| ZBTB7Azinc finger and BTB domain containing 7A | Altid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Altid | I 1 tilstand |
| FLNBfilamin B | Meget ofte (80–99 %) | I 2 tilstande |
| FUCA1alpha-L-fucosidase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Meget ofte (80–99 %) | I 2 tilstande |
| IGF2insulin like growth factor 2 | Meget ofte (80–99 %) | I 4 tilstande |
| MED12mediator complex subunit 12 | Meget ofte (80–99 %) | I 3 tilstande |
| MID1midline 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 3 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PLAG1PLAG1 zinc finger | Meget ofte (80–99 %) | I 2 tilstande |
| ROR2ROR family WNT receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Meget ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Meget ofte (80–99 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ZBTB18zinc finger and BTB domain containing 18 | Meget ofte (80–99 %) | I 2 tilstande |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Ofte (30–79 %) | I 2 tilstande |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Ofte (30–79 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstande |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 3 tilstande |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | 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 |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Ofte (30–79 %) | I 2 tilstande |
| INPPL1inositol polyphosphate phosphatase like 1 | Ofte (30–79 %) | I 1 tilstand |
| IRX5iroquois homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 2 tilstande |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 3 tilstande |
| MN1MN1 proto-oncogene, transcriptional regulator | Ofte (30–79 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 2 tilstande |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 2 tilstande |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 3 tilstande |
| RYR3ryanodine receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Ofte (30–79 %) | I 2 tilstande |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 2 tilstande |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 2 tilstande |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 2 tilstande |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| THSD1thrombospondin type 1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Ofte (30–79 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| WASHC4WASH complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Nogle gange (5–29 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 2 tilstande |
| BRWD3bromodomain and WD repeat domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nogle gange (5–29 %) | I 1 tilstand |
| CBFBcore-binding factor subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 2 tilstande |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EDARectodysplasin A receptor | Nogle gange (5–29 %) | I 1 tilstand |
| EDARADDEDAR associated via death domain | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Nogle gange (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Nogle gange (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO31F-box protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KDF1keratinocyte differentiation factor 1 | 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 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Nogle gange (5–29 %) | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Nogle gange (5–29 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Nogle gange (5–29 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 2 tilstande |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Nogle gange (5–29 %) | I 1 tilstand |
| TRAF6TNF receptor associated factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 3 tilstande |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 3 tilstande |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF711ZFX family zinc finger ZNF711 | Nogle gange (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | 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 |
| GJB2gap junction protein beta 2 | Sjældent (1–4%) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ikke registreret | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registreret | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registreret | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registreret | I 1 tilstand |
| CCND2cyclin D2 | Ikke registreret | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| COL27A1collagen type XXVII alpha 1 chain | Ikke registreret | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registreret | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ikke registreret | I 1 tilstand |
| ERFETS2 repressor factor | Ikke registreret | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | 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 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registreret | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registreret | I 1 tilstand |
| ITGA3integrin subunit alpha 3 | Ikke registreret | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registreret | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registreret | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registreret | I 1 tilstand |
| LBRlamin B receptor | Ikke registreret | I 1 tilstand |
| MAB21L2mab-21 like 2 | Ikke registreret | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registreret | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registreret | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| SETBP1SET binding protein 1 | Ikke registreret | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registreret | I 1 tilstand |
| SNX14sorting nexin 14 | Ikke registreret | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registreret | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registreret | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | 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 |
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.
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- 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 2026.10.16-c6eea6bf.
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