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Egenskap
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
Sammendrag
- Også kalt
- Deformity of face, Distortion of face, Funny looking face, Malformation of face, Unusual facial appearance, Abnormal morphology of the face, Distinctive facies, Dysmorphic facial features, Dysmorphic facies, Facial dysmorphism, Unusual facies
- Kroppssystem
- Abnormality of head or neck
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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/abnormal-facial-shape.json"
page <- fromJSON(url)
page$trait$nameAbnormal facial shapeHP:0001999
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Les genene knyttet til Abnormal facial shape, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test322 gener knyttet til Abnormal facial shape
Endringer i disse genene forårsaker sjeldne tilstander der Abnormal facial shape 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 |
|---|---|---|
| CACHD1cache domain containing 1 | Alltid | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Alltid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Alltid | I 3 tilstander |
| FLNAfilamin A | Alltid | I 3 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| GINS1GINS complex subunit 1 | Alltid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 2 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 2 tilstander |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Alltid | I 1 tilstand |
| RPL10ribosomal protein L10 | Alltid | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 1 tilstand |
| SSR4signal sequence receptor subunit 4 | Alltid | I 1 tilstand |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ADSLadenylosuccinate lyase | Svært ofte (80–99 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Svært ofte (80–99 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Svært ofte (80–99 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Svært ofte (80–99 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Svært ofte (80–99 %) | I 2 tilstander |
| BRF1BRF1 general transcription factor IIIB subunit | Svært ofte (80–99 %) | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Svært ofte (80–99 %) | I 2 tilstander |
| CDK8cyclin dependent kinase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| CTNNB1catenin beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Svært ofte (80–99 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Svært ofte (80–99 %) | I 2 tilstander |
| EBF3EBF transcription factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 282 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| EHMT1euchromatic histone lysine methyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Svært ofte (80–99 %) | I 3 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Svært ofte (80–99 %) | I 3 tilstander |
| ERMARDER membrane associated RNA degradation | Svært ofte (80–99 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Svært ofte (80–99 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Svært ofte (80–99 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Svært ofte (80–99 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Svært ofte (80–99 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Svært ofte (80–99 %) | I 2 tilstander |
| LAS1LLAS1 like ribosome biogenesis factor | Svært ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 3 tilstander |
| MAN1B1mannosidase alpha class 1B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MANBAmannosidase beta | Svært ofte (80–99 %) | I 2 tilstander |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Svært ofte (80–99 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Svært ofte (80–99 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Svært ofte (80–99 %) | I 2 tilstander |
| NDE1nudE neurodevelopment protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Svært ofte (80–99 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEPDpeptidase D | Svært ofte (80–99 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Svært ofte (80–99 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Svært ofte (80–99 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Svært ofte (80–99 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Svært ofte (80–99 %) | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Svært ofte (80–99 %) | I 1 tilstand |
| RELNreelin | Svært ofte (80–99 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Svært ofte (80–99 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RTTNrotatin | Svært ofte (80–99 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SEC24CSEC24 homolog C, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SIN3ASIN3 transcription regulator family member A | Svært ofte (80–99 %) | I 1 tilstand |
| SIN3BSIN3 transcription regulator family member B | Svært ofte (80–99 %) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Svært ofte (80–99 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Svært ofte (80–99 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Svært ofte (80–99 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Svært ofte (80–99 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Svært ofte (80–99 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Svært ofte (80–99 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Svært ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Svært ofte (80–99 %) | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Svært ofte (80–99 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Svært ofte (80–99 %) | I 2 tilstander |
| WACWW domain containing adaptor with coiled-coil | Svært ofte (80–99 %) | I 1 tilstand |
| YY1YY1 transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ZNF699zinc finger protein 699 | Svært ofte (80–99 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ofte (30–79 %) | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 3 tilstander |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 2 tilstander |
| ATP10AATPase phospholipid transporting 10A (putative) | Ofte (30–79 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Ofte (30–79 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Ofte (30–79 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Ofte (30–79 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Ofte (30–79 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COG2component of oligomeric golgi complex 2 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| FBLN5fibulin 5 | Ofte (30–79 %) | I 2 tilstander |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Ofte (30–79 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Ofte (30–79 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Ofte (30–79 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 2 tilstander |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| MID1midline 1 | Ofte (30–79 %) | I 1 tilstand |
| MIR17HGmiR-17-92a-1 cluster host gene | Ofte (30–79 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Ofte (30–79 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ofte (30–79 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Ofte (30–79 %) | I 2 tilstander |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 2 tilstander |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 2 tilstander |
| NIPA1NIPA magnesium transporter 1 | Ofte (30–79 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Ofte (30–79 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ofte (30–79 %) | I 2 tilstander |
| PDHBpyruvate dehydrogenase E1 subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Ofte (30–79 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ofte (30–79 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 2 tilstander |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLD3DNA polymerase delta 3, accessory subunit | Ofte (30–79 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ofte (30–79 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| RNF168ring finger protein 168 | Ofte (30–79 %) | I 2 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 4 tilstander |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 2 tilstander |
| TALDO1transaldolase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ofte (30–79 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Ofte (30–79 %) | I 2 tilstander |
| TUBG1tubulin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ofte (30–79 %) | I 1 tilstand |
| AASSaminoadipate-semialdehyde synthase | Noen ganger (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCL1clathrin heavy chain like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | 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 |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Noen ganger (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| PGM3phosphoglucomutase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM260transmembrane protein 260 | Noen ganger (5–29 %) | I 1 tilstand |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Noen ganger (5–29 %) | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Noen ganger (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjelden (1–4%) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Sjelden (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| CIITAclass II major histocompatibility complex transactivator | Sjelden (1–4%) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Sjelden (1–4%) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sjelden (1–4%) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjelden (1–4%) | I 1 tilstand |
| FLT4fms related receptor tyrosine kinase 4 | 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 |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| JAK3Janus kinase 3 | Sjelden (1–4%) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Sjelden (1–4%) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Sjelden (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjelden (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjelden (1–4%) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| NUP107nucleoporin 107 | Sjelden (1–4%) | I 2 tilstander |
| RFX5regulatory factor X5 | Sjelden (1–4%) | I 1 tilstand |
| RFXANKregulatory factor X associated ankyrin containing protein | Sjelden (1–4%) | I 1 tilstand |
| RFXAPregulatory factor X associated protein | 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 |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Sjelden (1–4%) | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ikke registrert | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registrert | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Ikke registrert | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ikke registrert | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registrert | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registrert | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registrert | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registrert | I 1 tilstand |
| HPSE2heparanase 2 (inactive) | Ikke registrert | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registrert | I 1 tilstand |
| KIF4Akinesin family member 4A | Ikke registrert | I 1 tilstand |
| KIF7kinesin family member 7 | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ikke registrert | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ikke registrert | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registrert | I 1 tilstand |
| PHF21APHD finger protein 21A | Ikke registrert | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ikke registrert | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ikke registrert | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ikke registrert | I 1 tilstand |
| RPS17ribosomal protein S17 | Ikke registrert | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ikke registrert | I 1 tilstand |
| TSEN15tRNA splicing endonuclease subunit 15 | Ikke registrert | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ikke registrert | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ikke registrert | I 1 tilstand |
| WDR81WD repeat domain 81 | 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.
Smalere egenskaper
- Coarse facial features252 gener
- Triangular face189 gener
- Facial asymmetry153 gener
- Flat face115 gener
- Round face112 gener
- Elf-like facial appearance22 gener
- Small face20 gener
- Oval face19 gener
- Bird-like facial appearance18 gener
- Square face16 gener
- Moon face15 gener
- Large face11 gener
- Craniofacial disproportion6 gener
- Facial shape deformation6 gener
- Doll-like facial appearance4 gener
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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