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Piirre
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
Yhteenveto
- Tunnetaan myös nimellä
- 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
- Elimistön järjestelmä
- Abnormality of head or neck
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This page as data
Add .json to the page's address, or ask for application/json, to read it as 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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Lue Abnormal facial shape-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test322 geeniä, jotka liittyvät piirteeseen Abnormal facial shape
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Abnormal facial shape esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| CACHD1cache domain containing 1 | Aina | 1 sairaudessa |
| DHRS3dehydrogenase/reductase 3 | Aina | 1 sairaudessa |
| DHRSXdehydrogenase/reductase X-linked | Aina | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Aina | 3 sairaudessa |
| FLNAfilamin A | Aina | 3 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Aina | 1 sairaudessa |
| GINS1GINS complex subunit 1 | Aina | 1 sairaudessa |
| GTPBP2GTP binding protein 2 | Aina | 1 sairaudessa |
| ITCHitchy E3 ubiquitin protein ligase | Aina | 2 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 2 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Aina | 2 sairaudessa |
| RBSNrabenosyn, RAB effector | Aina | 1 sairaudessa |
| RNU6ATACRNA, U6atac small nuclear | Aina | 1 sairaudessa |
| RPL10ribosomal protein L10 | Aina | 2 sairaudessa |
| SCO2synthesis of cytochrome C oxidase 2 | Aina | 1 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Aina | 1 sairaudessa |
| SSR4signal sequence receptor subunit 4 | Aina | 1 sairaudessa |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ADSLadenylosuccinate lyase | Hyvin usein (80–99%) | 1 sairaudessa |
| AGAaspartylglucosaminidase | Hyvin usein (80–99%) | 1 sairaudessa |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARVCFARVCF delta catenin family member | Hyvin usein (80–99%) | 1 sairaudessa |
| AUTS2activator of transcription and developmental regulator AUTS2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BCAP31B cell receptor associated protein 31 | Hyvin usein (80–99%) | 2 sairaudessa |
| BRF1BRF1 general transcription factor IIIB subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| CCBE1collagen and calcium binding EGF domains 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDC42cell division cycle 42 | Hyvin usein (80–99%) | 2 sairaudessa |
| CDK8cyclin dependent kinase 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| COMTcatechol-O-methyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Hyvin usein (80–99%) | 2 sairaudessa |
| CTNNB1catenin beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Hyvin usein (80–99%) | 1 sairaudessa |
| DCHS1dachsous cadherin-related 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DPH1diphthamide biosynthesis 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DPH2diphthamide biosynthesis 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Hyvin usein (80–99%) | 2 sairaudessa |
| EBF3EBF transcription factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 282 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| EHMT1euchromatic histone lysine methyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| EMC1ER membrane protein complex subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Hyvin usein (80–99%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Hyvin usein (80–99%) | 3 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Hyvin usein (80–99%) | 3 sairaudessa |
| ERMARDER membrane associated RNA degradation | Hyvin usein (80–99%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Hyvin usein (80–99%) | 1 sairaudessa |
| FUCA1alpha-L-fucosidase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GHRgrowth hormone receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| GLB1galactosidase beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| GP1BBglycoprotein Ib platelet subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| HIRAhistone cell cycle regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| IGF1insulin like growth factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| JMJD1Cjumonji domain containing 1C | Hyvin usein (80–99%) | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| KATNB1katanin regulatory subunit B1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KMT2Clysine methyltransferase 2C | Hyvin usein (80–99%) | 2 sairaudessa |
| LAS1LLAS1 like ribosome biogenesis factor | Hyvin usein (80–99%) | 1 sairaudessa |
| MAGEL2MAGE family member L2 | Hyvin usein (80–99%) | 3 sairaudessa |
| MAN1B1mannosidase alpha class 1B member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MANBAmannosidase beta | Hyvin usein (80–99%) | 2 sairaudessa |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| MMP14matrix metallopeptidase 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| MMP2matrix metallopeptidase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| NDE1nudE neurodevelopment protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NFIXnuclear factor I X | Hyvin usein (80–99%) | 1 sairaudessa |
| NOTCH2notch receptor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PACS1phosphofurin acidic cluster sorting protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PEPDpeptidase D | Hyvin usein (80–99%) | 1 sairaudessa |
| POLR1BRNA polymerase I subunit B | Hyvin usein (80–99%) | 1 sairaudessa |
| POLR1CRNA polymerase I and III subunit C | Hyvin usein (80–99%) | 1 sairaudessa |
| POLR1DRNA polymerase I and III subunit D | Hyvin usein (80–99%) | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| PTRH2peptidyl-tRNA hydrolase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RDH11retinol dehydrogenase 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| RELNreelin | Hyvin usein (80–99%) | 1 sairaudessa |
| RNF135ring finger protein 135 | Hyvin usein (80–99%) | 1 sairaudessa |
| RREB1ras responsive element binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RTTNrotatin | Hyvin usein (80–99%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| SEC24CSEC24 homolog C, COPII component | Hyvin usein (80–99%) | 1 sairaudessa |
| SIM1SIM bHLH transcription factor 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Hyvin usein (80–99%) | 1 sairaudessa |
| SIN3BSIN3 transcription regulator family member B | Hyvin usein (80–99%) | 1 sairaudessa |
| SKIC2SKI2 subunit of superkiller complex | Hyvin usein (80–99%) | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Hyvin usein (80–99%) | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| STRADASTE20 related adaptor alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| TAF1TATA-box binding protein associated factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCOF1treacle ribosome biogenesis factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TELO2telomere maintenance 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| THOC6THO complex subunit 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| TONSLtonsoku like, DNA repair protein | Hyvin usein (80–99%) | 1 sairaudessa |
| TRAPPC9trafficking protein particle complex subunit 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| TTI2TELO2 interacting protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| USP7ubiquitin specific peptidase 7 | Hyvin usein (80–99%) | 2 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Hyvin usein (80–99%) | 1 sairaudessa |
| YY1YY1 transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNF699zinc finger protein 699 | Hyvin usein (80–99%) | 1 sairaudessa |
| AEBP1AE binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| AHCYadenosylhomocysteinase | Usein (30–79%) | 2 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Usein (30–79%) | 1 sairaudessa |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Usein (30–79%) | 3 sairaudessa |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Usein (30–79%) | 1 sairaudessa |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Usein (30–79%) | 1 sairaudessa |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Usein (30–79%) | 1 sairaudessa |
| ARID1AAT-rich interaction domain 1A | Usein (30–79%) | 1 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Usein (30–79%) | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Usein (30–79%) | 2 sairaudessa |
| ATP10AATPase phospholipid transporting 10A (putative) | Usein (30–79%) | 1 sairaudessa |
| B4GALT1beta-1,4-galactosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| B4GALT7beta-1,4-galactosyltransferase 7 | Usein (30–79%) | 1 sairaudessa |
| BCKDKbranched chain keto acid dehydrogenase kinase | Usein (30–79%) | 1 sairaudessa |
| BMPR1Abone morphogenetic protein receptor type 1A | Usein (30–79%) | 1 sairaudessa |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Usein (30–79%) | 1 sairaudessa |
| C2CD3C2 domain containing 3 centriole elongation regulator | Usein (30–79%) | 1 sairaudessa |
| CA2carbonic anhydrase 2 | Usein (30–79%) | 1 sairaudessa |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Usein (30–79%) | 1 sairaudessa |
| CHSY1chondroitin sulfate synthase 1 | Usein (30–79%) | 1 sairaudessa |
| COG1component of oligomeric golgi complex 1 | Usein (30–79%) | 1 sairaudessa |
| COG2component of oligomeric golgi complex 2 | Usein (30–79%) | 1 sairaudessa |
| COG7component of oligomeric golgi complex 7 | Usein (30–79%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Usein (30–79%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Usein (30–79%) | 1 sairaudessa |
| DHX9DExH-box helicase 9 | Usein (30–79%) | 1 sairaudessa |
| DLL1delta like canonical Notch ligand 1 | Usein (30–79%) | 1 sairaudessa |
| DPF2double PHD fingers 2 | Usein (30–79%) | 1 sairaudessa |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Usein (30–79%) | 1 sairaudessa |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Usein (30–79%) | 1 sairaudessa |
| ELNelastin | Usein (30–79%) | 1 sairaudessa |
| EXTL3exostosin like glycosyltransferase 3 | Usein (30–79%) | 1 sairaudessa |
| FAR1fatty acyl-CoA reductase 1 | Usein (30–79%) | 1 sairaudessa |
| FBLN5fibulin 5 | Usein (30–79%) | 2 sairaudessa |
| FDXRferredoxin reductase | Usein (30–79%) | 1 sairaudessa |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Usein (30–79%) | 1 sairaudessa |
| FIBPFGF1 intracellular binding protein | Usein (30–79%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Usein (30–79%) | 1 sairaudessa |
| HCCSholocytochrome c synthase | Usein (30–79%) | 1 sairaudessa |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Usein (30–79%) | 1 sairaudessa |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Usein (30–79%) | 1 sairaudessa |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Usein (30–79%) | 1 sairaudessa |
| KIF15kinesin family member 15 | Usein (30–79%) | 1 sairaudessa |
| KLF13KLF transcription factor 13 | Usein (30–79%) | 1 sairaudessa |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Usein (30–79%) | 2 sairaudessa |
| LMBRD1LMBR1 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Usein (30–79%) | 1 sairaudessa |
| LTBP1latent transforming growth factor beta binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| MID1midline 1 | Usein (30–79%) | 1 sairaudessa |
| MIR17HGmiR-17-92a-1 cluster host gene | Usein (30–79%) | 1 sairaudessa |
| MOGSmannosyl-oligosaccharide glucosidase | Usein (30–79%) | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Usein (30–79%) | 1 sairaudessa |
| MYSM1Myb like, SWIRM and MPN domains 1 | Usein (30–79%) | 2 sairaudessa |
| NDNnecdin, MAGE family member | Usein (30–79%) | 2 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Usein (30–79%) | 1 sairaudessa |
| NF1neurofibromin 1 | Usein (30–79%) | 2 sairaudessa |
| NIPA1NIPA magnesium transporter 1 | Usein (30–79%) | 1 sairaudessa |
| NIPA2NIPA magnesium transporter 2 | Usein (30–79%) | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Usein (30–79%) | 1 sairaudessa |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Usein (30–79%) | 1 sairaudessa |
| OPHN1oligophrenin 1 | Usein (30–79%) | 1 sairaudessa |
| PAHphenylalanine hydroxylase | Usein (30–79%) | 1 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Usein (30–79%) | 2 sairaudessa |
| PDHBpyruvate dehydrogenase E1 subunit beta | Usein (30–79%) | 1 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Usein (30–79%) | 1 sairaudessa |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Usein (30–79%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Usein (30–79%) | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Usein (30–79%) | 1 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Usein (30–79%) | 1 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Usein (30–79%) | 1 sairaudessa |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Usein (30–79%) | 1 sairaudessa |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Usein (30–79%) | 1 sairaudessa |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Usein (30–79%) | 1 sairaudessa |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Usein (30–79%) | 2 sairaudessa |
| PLAAphospholipase A2 activating protein | Usein (30–79%) | 1 sairaudessa |
| PMM2phosphomannomutase 2 | Usein (30–79%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 1 sairaudessa |
| POLD3DNA polymerase delta 3, accessory subunit | Usein (30–79%) | 1 sairaudessa |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Usein (30–79%) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Usein (30–79%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Usein (30–79%) | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Usein (30–79%) | 1 sairaudessa |
| RNF168ring finger protein 168 | Usein (30–79%) | 2 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Usein (30–79%) | 1 sairaudessa |
| RPS6KC1ribosomal protein S6 kinase C1 | Usein (30–79%) | 1 sairaudessa |
| SLC26A2solute carrier family 26 member 2 | Usein (30–79%) | 1 sairaudessa |
| SLC35A2solute carrier family 35 member A2 | Usein (30–79%) | 1 sairaudessa |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Usein (30–79%) | 1 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Usein (30–79%) | 1 sairaudessa |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Usein (30–79%) | 1 sairaudessa |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Usein (30–79%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Usein (30–79%) | 1 sairaudessa |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Usein (30–79%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Usein (30–79%) | 4 sairaudessa |
| SOX11SRY-box transcription factor 11 | Usein (30–79%) | 1 sairaudessa |
| SOX4SRY-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| SRD5A3steroid 5 alpha-reductase 3 | Usein (30–79%) | 1 sairaudessa |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Usein (30–79%) | 2 sairaudessa |
| TALDO1transaldolase 1 | Usein (30–79%) | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Usein (30–79%) | 1 sairaudessa |
| TRMT10AtRNA methyltransferase 10A | Usein (30–79%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Usein (30–79%) | 2 sairaudessa |
| TUBG1tubulin gamma 1 | Usein (30–79%) | 1 sairaudessa |
| UBE3Aubiquitin protein ligase E3A | Usein (30–79%) | 1 sairaudessa |
| AASSaminoadipate-semialdehyde synthase | Joskus (5–29%) | 1 sairaudessa |
| ACADSacyl-CoA dehydrogenase short chain | Joskus (5–29%) | 1 sairaudessa |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Joskus (5–29%) | 1 sairaudessa |
| BIN1bridging integrator 1 | Joskus (5–29%) | 1 sairaudessa |
| CLTCL1clathrin heavy chain like 1 | Joskus (5–29%) | 1 sairaudessa |
| COG4component of oligomeric golgi complex 4 | Joskus (5–29%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Joskus (5–29%) | 1 sairaudessa |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Joskus (5–29%) | 1 sairaudessa |
| FGF10fibroblast growth factor 10 | Joskus (5–29%) | 1 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Joskus (5–29%) | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Joskus (5–29%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Joskus (5–29%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Joskus (5–29%) | 1 sairaudessa |
| LHX3LIM homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| LHX4LIM homeobox 4 | Joskus (5–29%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Joskus (5–29%) | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Joskus (5–29%) | 1 sairaudessa |
| MED16mediator complex subunit 16 | Joskus (5–29%) | 1 sairaudessa |
| MTM1myotubularin 1 | Joskus (5–29%) | 1 sairaudessa |
| MTRFRmitochondrial translation release factor in rescue | Joskus (5–29%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Joskus (5–29%) | 1 sairaudessa |
| PGM3phosphoglucomutase 3 | Joskus (5–29%) | 1 sairaudessa |
| PHGDHphosphoglycerate dehydrogenase | Joskus (5–29%) | 1 sairaudessa |
| PLXND1plexin D1 | Joskus (5–29%) | 1 sairaudessa |
| PORcytochrome p450 oxidoreductase | Joskus (5–29%) | 1 sairaudessa |
| POU1F1POU class 1 homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| PROP1PROP paired-like homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| PSPHphosphoserine phosphatase | Joskus (5–29%) | 1 sairaudessa |
| RAC1Rac family small GTPase 1 | Joskus (5–29%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Joskus (5–29%) | 1 sairaudessa |
| RNF13ring finger protein 13 | Joskus (5–29%) | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| SH2B1SH2B adaptor protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SLC1A4solute carrier family 1 member 4 | Joskus (5–29%) | 1 sairaudessa |
| SMSspermine synthase | Joskus (5–29%) | 1 sairaudessa |
| SPEGstriated muscle enriched protein kinase | Joskus (5–29%) | 1 sairaudessa |
| STAG1STAG1 cohesin complex component | Joskus (5–29%) | 1 sairaudessa |
| TGFB1transforming growth factor beta 1 | Joskus (5–29%) | 1 sairaudessa |
| TMEM260transmembrane protein 260 | Joskus (5–29%) | 1 sairaudessa |
| TTNtitin | Joskus (5–29%) | 1 sairaudessa |
| TUBGCP4tubulin gamma complex component 4 | Joskus (5–29%) | 1 sairaudessa |
| VMA22vacuolar ATPase assembly factor VMA22 | Joskus (5–29%) | 1 sairaudessa |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harvinainen (1–4 %) | 1 sairaudessa |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| ASAH1N-acylsphingosine amidohydrolase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CHD2chromodomain helicase DNA binding protein 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| CIITAclass II major histocompatibility complex transactivator | Harvinainen (1–4 %) | 1 sairaudessa |
| COL13A1collagen type XIII alpha 1 chain | Harvinainen (1–4 %) | 1 sairaudessa |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Harvinainen (1–4 %) | 1 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harvinainen (1–4 %) | 1 sairaudessa |
| FLT4fms related receptor tyrosine kinase 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJB2gap junction protein beta 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GJB6gap junction protein beta 6 | Harvinainen (1–4 %) | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Harvinainen (1–4 %) | 1 sairaudessa |
| JAK3Janus kinase 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| LAMB2laminin subunit beta 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Harvinainen (1–4 %) | 1 sairaudessa |
| NEXMIFneurite extension and migration factor | Harvinainen (1–4 %) | 1 sairaudessa |
| NKX2-1NK2 homeobox 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NUP107nucleoporin 107 | Harvinainen (1–4 %) | 2 sairaudessa |
| RFX5regulatory factor X5 | Harvinainen (1–4 %) | 1 sairaudessa |
| RFXANKregulatory factor X associated ankyrin containing protein | Harvinainen (1–4 %) | 1 sairaudessa |
| RFXAPregulatory factor X associated protein | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC2A1solute carrier family 2 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC6A1solute carrier family 6 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| STUB1STIP1 homology and U-box containing protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ei kirjattu | 1 sairaudessa |
| CHRNDcholinergic receptor nicotinic delta subunit | Ei kirjattu | 1 sairaudessa |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ei kirjattu | 1 sairaudessa |
| CHST14carbohydrate sulfotransferase 14 | Ei kirjattu | 1 sairaudessa |
| CTDP1CTD phosphatase 1 | Ei kirjattu | 1 sairaudessa |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ei kirjattu | 1 sairaudessa |
| ETFAelectron transfer flavoprotein subunit alpha | Ei kirjattu | 1 sairaudessa |
| ETFBelectron transfer flavoprotein subunit beta | Ei kirjattu | 1 sairaudessa |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ei kirjattu | 1 sairaudessa |
| EXOSC9exosome component 9 | Ei kirjattu | 1 sairaudessa |
| HPSE2heparanase 2 (inactive) | Ei kirjattu | 1 sairaudessa |
| IGF1Rinsulin like growth factor 1 receptor | Ei kirjattu | 1 sairaudessa |
| KIF4Akinesin family member 4A | Ei kirjattu | 1 sairaudessa |
| KIF7kinesin family member 7 | Ei kirjattu | 1 sairaudessa |
| KMT2Elysine methyltransferase 2E (inactive) | Ei kirjattu | 1 sairaudessa |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Ei kirjattu | 1 sairaudessa |
| PBX1PBX homeobox 1 | Ei kirjattu | 1 sairaudessa |
| PDE6Dphosphodiesterase 6D | Ei kirjattu | 1 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Ei kirjattu | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Ei kirjattu | 1 sairaudessa |
| PHF21APHD finger protein 21A | Ei kirjattu | 1 sairaudessa |
| PITX2paired like homeodomain 2 | Ei kirjattu | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ei kirjattu | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ei kirjattu | 1 sairaudessa |
| RPS17ribosomal protein S17 | Ei kirjattu | 1 sairaudessa |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ei kirjattu | 1 sairaudessa |
| TSEN15tRNA splicing endonuclease subunit 15 | Ei kirjattu | 1 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Ei kirjattu | 1 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Ei kirjattu | 1 sairaudessa |
| WDR81WD repeat domain 81 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
- Coarse facial features252 geeniä
- Triangular face189 geeniä
- Facial asymmetry153 geeniä
- Flat face115 geeniä
- Round face112 geeniä
- Elf-like facial appearance22 geeniä
- Small face20 geeniä
- Oval face19 geeniä
- Bird-like facial appearance18 geeniä
- Square face16 geeniä
- Moon face15 geeniä
- Large face11 geeniä
- Craniofacial disproportion6 geeniä
- Facial shape deformation6 geeniä
- Doll-like facial appearance4 geeniä
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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