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Egenskap
Prominent forehead
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Sammendrag
- Også kalt
- Bulging forehead, Pronounced forehead, Protruding forehead, Prominence of frontal region
- Kroppssystem
- Abnormality of head or neck
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/prominent-forehead.json"
page <- fromJSON(url)
page$trait$nameProminent foreheadHP:0011220
AtlasHvem vi hjelperVår vitenskapProdukterResultater
Logg innSpørSekvenser genomet ditt↗
Les genene knyttet til Prominent forehead, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test283 gener knyttet til Prominent forehead
Endringer i disse genene forårsaker sjeldne tilstander der Prominent forehead forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alltid | I 3 tilstander |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alltid | I 2 tilstander |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 3 tilstander |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Alltid | I 2 tilstander |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Alltid | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Alltid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 3 tilstander |
| DPH1diphthamide biosynthesis 1 | Alltid | I 2 tilstander |
| DPH2diphthamide biosynthesis 2 | Alltid | I 2 tilstander |
| DRG1developmentally regulated GTP binding protein 1 | Alltid | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alltid | I 1 tilstand |
| EDAectodysplasin A | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Alltid | I 2 tilstander |
| EXOSC2exosome component 2 | Alltid | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Alltid | I 3 tilstander |
| FAT4FAT atypical cadherin 4 | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 2 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 2 tilstander |
| FLNAfilamin A | Alltid | I 3 tilstander |
| FOXP1forkhead box P1 | Alltid | I 2 tilstander |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Alltid | I 2 tilstander |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| IL2RAinterleukin 2 receptor subunit alpha | Alltid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| KDM1Alysine demethylase 1A | Alltid | I 2 tilstander |
| KLHL20kelch like family member 20 | Alltid | I 1 tilstand |
| KPTNkaptin, actin binding protein | Alltid | I 2 tilstander |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Alltid | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alltid | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Alltid | I 1 tilstand |
Vis 243 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PEPDpeptidase D | Alltid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Alltid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Alltid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Alltid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Alltid | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 2 tilstander |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Alltid | I 3 tilstander |
| RRAGCRas related GTP binding C | Alltid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Alltid | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Alltid | I 2 tilstander |
| SONSON DNA and RNA binding protein | Alltid | I 2 tilstander |
| SP7Sp7 transcription factor | Alltid | I 1 tilstand |
| STAT5Bsignal transducer and activator of transcription 5B | Alltid | I 2 tilstander |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| TMEM53transmembrane protein 53 | Alltid | I 1 tilstand |
| TTC7Atetratricopeptide repeat domain 7A | Alltid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alltid | I 2 tilstander |
| ZBTB7Azinc finger and BTB domain containing 7A | Alltid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| FLNBfilamin B | Svært ofte (80–99 %) | I 2 tilstander |
| FUCA1alpha-L-fucosidase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Svært ofte (80–99 %) | I 2 tilstander |
| IGF2insulin like growth factor 2 | Svært ofte (80–99 %) | I 4 tilstander |
| MED12mediator complex subunit 12 | Svært ofte (80–99 %) | I 3 tilstander |
| MID1midline 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NFIXnuclear factor I X | Svært ofte (80–99 %) | I 3 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PLAG1PLAG1 zinc finger | Svært ofte (80–99 %) | I 2 tilstander |
| ROR2ROR family WNT receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Svært ofte (80–99 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Svært ofte (80–99 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ZBTB18zinc finger and BTB domain containing 18 | Svært ofte (80–99 %) | I 2 tilstander |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| MN1MN1 proto-oncogene, transcriptional regulator | Ofte (30–79 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 2 tilstander |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 2 tilstander |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 2 tilstander |
| BRWD3bromodomain and WD repeat domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CBFBcore-binding factor subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 2 tilstander |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EDARectodysplasin A receptor | Noen ganger (5–29 %) | I 1 tilstand |
| EDARADDEDAR associated via death domain | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Noen ganger (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO31F-box protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KDF1keratinocyte differentiation factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Noen ganger (5–29 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 2 tilstander |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF6TNF receptor associated factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 3 tilstander |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 3 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF711ZFX family zinc finger ZNF711 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjelden (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Sjelden (1–4%) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Sjelden (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjelden (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ikke registrert | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registrert | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registrert | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| CCND2cyclin D2 | Ikke registrert | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| COL27A1collagen type XXVII alpha 1 chain | Ikke registrert | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registrert | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ikke registrert | I 1 tilstand |
| ERFETS2 repressor factor | Ikke registrert | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ikke registrert | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registrert | I 1 tilstand |
| ITGA3integrin subunit alpha 3 | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| LBRlamin B receptor | Ikke registrert | I 1 tilstand |
| MAB21L2mab-21 like 2 | Ikke registrert | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ikke registrert | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ikke registrert | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registrert | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ikke registrert | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registrert | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registrert | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registrert | I 1 tilstand |
| SETBP1SET binding protein 1 | Ikke registrert | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registrert | I 1 tilstand |
| SNX14sorting nexin 14 | Ikke registrert | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registrert | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registrert | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.17-8666dff2.
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