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Tunnus
Prominent forehead
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Kokkuvõte
- Teised nimetused
- Bulging forehead, Pronounced forehead, Protruding forehead, Prominence of frontal region
- Kehasüsteem
- Abnormality of head or neck
Prominent foreheadHP:0011220
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Prominent forehead, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test283 geeni on seotud tunnusega Prominent forehead
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Prominent forehead. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Alati | Esineb 3 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alati | Esineb 1 haiguses |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alati | Esineb 2 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alati | Esineb 2 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alati | Esineb 3 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Alati | Esineb 2 haiguses |
| CEP57centrosomal protein 57 | Alati | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Alati | Esineb 1 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Alati | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Alati | Esineb 3 haiguses |
| DPH1diphthamide biosynthesis 1 | Alati | Esineb 2 haiguses |
| DPH2diphthamide biosynthesis 2 | Alati | Esineb 2 haiguses |
| DRG1developmentally regulated GTP binding protein 1 | Alati | Esineb 1 haiguses |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alati | Esineb 1 haiguses |
| EDAectodysplasin A | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Alati | Esineb 2 haiguses |
| EXOSC2exosome component 2 | Alati | Esineb 1 haiguses |
| FAM111AFAM111 trypsin like peptidase A | Alati | Esineb 3 haiguses |
| FAT4FAT atypical cadherin 4 | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Alati | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Alati | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 2 haiguses |
| FLNAfilamin A | Alati | Esineb 3 haiguses |
| FOXP1forkhead box P1 | Alati | Esineb 2 haiguses |
| GOLGA2golgin A2 | Alati | Esineb 1 haiguses |
| HMGA2high mobility group AT-hook 2 | Alati | Esineb 2 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| IL2RAinterleukin 2 receptor subunit alpha | Alati | Esineb 1 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Alati | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Alati | Esineb 2 haiguses |
| KLHL20kelch like family member 20 | Alati | Esineb 1 haiguses |
| KPTNkaptin, actin binding protein | Alati | Esineb 2 haiguses |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alati | Esineb 1 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alati | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Alati | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Alati | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Alati | Esineb 1 haiguses |
Näita veel 243 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PEPDpeptidase D | Alati | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Alati | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Alati | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Alati | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alati | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Alati | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Alati | Esineb 1 haiguses |
| PUF60poly(U) binding splicing factor 60 | Alati | Esineb 2 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 2 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Alati | Esineb 3 haiguses |
| RRAGCRas related GTP binding C | Alati | Esineb 1 haiguses |
| SCYL2SCY1 like pseudokinase 2 | Alati | Esineb 1 haiguses |
| SERPINH1serpin family H member 1 | Alati | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Alati | Esineb 2 haiguses |
| SONSON DNA and RNA binding protein | Alati | Esineb 2 haiguses |
| SP7Sp7 transcription factor | Alati | Esineb 1 haiguses |
| STAT5Bsignal transducer and activator of transcription 5B | Alati | Esineb 2 haiguses |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alati | Esineb 1 haiguses |
| TMEM53transmembrane protein 53 | Alati | Esineb 1 haiguses |
| TTC7Atetratricopeptide repeat domain 7A | Alati | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alati | Esineb 2 haiguses |
| ZBTB7Azinc finger and BTB domain containing 7A | Alati | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Alati | Esineb 1 haiguses |
| FLNBfilamin B | Väga sageli (80–99%) | Esineb 2 haiguses |
| FUCA1alpha-L-fucosidase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Väga sageli (80–99%) | Esineb 2 haiguses |
| IGF2insulin like growth factor 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| MED12mediator complex subunit 12 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MID1midline 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NFIXnuclear factor I X | Väga sageli (80–99%) | Esineb 3 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PLAG1PLAG1 zinc finger | Väga sageli (80–99%) | Esineb 2 haiguses |
| ROR2ROR family WNT receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMOC1SPARC related modular calcium binding 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZBTB18zinc finger and BTB domain containing 18 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ACTL6Bactin like 6B | Sageli (30–79%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Sageli (30–79%) | Esineb 2 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Sageli (30–79%) | Esineb 1 haiguses |
| ALX4ALX homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Sageli (30–79%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CDH2cadherin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Sageli (30–79%) | Esineb 2 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Sageli (30–79%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 3 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| H19H19 imprinted maternally expressed transcript | Sageli (30–79%) | Esineb 2 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Sageli (30–79%) | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Sageli (30–79%) | Esineb 2 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAPKAPK5MAPK activated protein kinase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 3 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Sageli (30–79%) | Esineb 1 haiguses |
| NPR2natriuretic peptide receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| PKDCCprotein kinase domain containing, cytoplasmic | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Sageli (30–79%) | Esineb 2 haiguses |
| PTENphosphatase and tensin homolog | Sageli (30–79%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 3 haiguses |
| RYR3ryanodine receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| SKIC2SKI2 subunit of superkiller complex | Sageli (30–79%) | Esineb 2 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Sageli (30–79%) | Esineb 2 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Sageli (30–79%) | Esineb 2 haiguses |
| STAT3signal transducer and activator of transcription 3 | Sageli (30–79%) | Esineb 2 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| THSD1thrombospondin type 1 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM147transmembrane protein 147 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Sageli (30–79%) | Esineb 1 haiguses |
| WASHC4WASH complex subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Sageli (30–79%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Sageli (30–79%) | Esineb 1 haiguses |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARCN1archain 1 coat protein complex I subunit delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| BRWD3bromodomain and WD repeat domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBFBcore-binding factor subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DONSONDNA replication fork stabilization factor DONSON | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH5diphthamide biosynthesis 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDARectodysplasin A receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDARADDEDAR associated via death domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXT2exostosin glycosyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM149B1family with sequence similarity 149 member B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBLN5fibulin 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO31F-box protein 31 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXC1forkhead box C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGF1insulin like growth factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| JARID2jumonji and AT-rich interaction domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KDF1keratinocyte differentiation factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KICS2KICSTOR subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP6LDL receptor related protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PURApurine rich element binding protein A | Mõnikord (5–29%) | Esineb 2 haiguses |
| RECQL4RecQ like helicase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIN3ASIN3 transcription regulator family member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| SRPK3SRSF protein kinase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SVBPsmall vasohibin binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAF6TNF receptor associated factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 3 haiguses |
| WACWW domain containing adaptor with coiled-coil | Mõnikord (5–29%) | Esineb 3 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF292zinc finger protein 292 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF711ZFX family zinc finger ZNF711 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Harva (1–4%) | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Harva (1–4%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| GJB2gap junction protein beta 2 | Harva (1–4%) | Esineb 1 haiguses |
| GJB6gap junction protein beta 6 | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Pole registreeritud | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Pole registreeritud | Esineb 1 haiguses |
| ASXL1ASXL transcriptional regulator 1 | Pole registreeritud | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| CCND2cyclin D2 | Pole registreeritud | Esineb 1 haiguses |
| CHD3chromodomain helicase DNA binding protein 3 | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| COL27A1collagen type XXVII alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Pole registreeritud | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Pole registreeritud | Esineb 1 haiguses |
| ERFETS2 repressor factor | Pole registreeritud | Esineb 1 haiguses |
| FAM50Afamily with sequence similarity 50 member A | Pole registreeritud | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Pole registreeritud | Esineb 1 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| HRASHRas proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| IFT81intraflagellar transport 81 | Pole registreeritud | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Pole registreeritud | Esineb 1 haiguses |
| ITGA3integrin subunit alpha 3 | Pole registreeritud | Esineb 1 haiguses |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Pole registreeritud | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Pole registreeritud | Esineb 1 haiguses |
| KMT2Elysine methyltransferase 2E (inactive) | Pole registreeritud | Esineb 1 haiguses |
| LBRlamin B receptor | Pole registreeritud | Esineb 1 haiguses |
| MAB21L2mab-21 like 2 | Pole registreeritud | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Pole registreeritud | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Pole registreeritud | Esineb 1 haiguses |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Pole registreeritud | Esineb 1 haiguses |
| NANSN-acetylneuraminate synthase | Pole registreeritud | Esineb 1 haiguses |
| NRASNRAS proto-oncogene, GTPase | Pole registreeritud | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Pole registreeritud | Esineb 1 haiguses |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Pole registreeritud | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Pole registreeritud | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Pole registreeritud | Esineb 1 haiguses |
| RALARAS like proto-oncogene A | Pole registreeritud | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SETD2SET domain containing 2, histone lysine methyltransferase | Pole registreeritud | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Pole registreeritud | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Pole registreeritud | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Pole registreeritud | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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