AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
Abnormal facial shape
An abnormal morphology (form) of the face or its components.
Kokkuvõte
- Teised nimetused
- 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
- Kehasüsteem
- Abnormality of head or neck
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-facial-shape.json"
page <- fromJSON(url)
page$trait$nameAbnormal facial shapeHP:0001999
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Abnormal facial shape-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test322 geeni on seotud tunnusega Abnormal facial shape
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal facial shape. 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 |
|---|---|---|
| CACHD1cache domain containing 1 | Alati | Esineb 1 haiguses |
| DHRS3dehydrogenase/reductase 3 | Alati | Esineb 1 haiguses |
| DHRSXdehydrogenase/reductase X-linked | Alati | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Alati | Esineb 3 haiguses |
| FLNAfilamin A | Alati | Esineb 3 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Alati | Esineb 1 haiguses |
| GINS1GINS complex subunit 1 | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Alati | Esineb 2 haiguses |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alati | Esineb 2 haiguses |
| JKAMPJNK1/MAPK8 associated membrane protein | Alati | Esineb 1 haiguses |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alati | Esineb 2 haiguses |
| RBSNrabenosyn, RAB effector | Alati | Esineb 1 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Alati | Esineb 2 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alati | Esineb 1 haiguses |
| SSR4signal sequence receptor subunit 4 | Alati | Esineb 1 haiguses |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADSLadenylosuccinate lyase | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARVCFARVCF delta catenin family member | Väga sageli (80–99%) | Esineb 1 haiguses |
| AUTS2activator of transcription and developmental regulator AUTS2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BCAP31B cell receptor associated protein 31 | Väga sageli (80–99%) | Esineb 2 haiguses |
| BRF1BRF1 general transcription factor IIIB subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCBE1collagen and calcium binding EGF domains 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CDK8cyclin dependent kinase 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COMTcatechol-O-methyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| CTNNB1catenin beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CWC27CWC27 spliceosome associated cyclophilin | Väga sageli (80–99%) | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DPH1diphthamide biosynthesis 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DPH2diphthamide biosynthesis 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Väga sageli (80–99%) | Esineb 2 haiguses |
| EBF3EBF transcription factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 282 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| EHMT1euchromatic histone lysine methyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EMC1ER membrane protein complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Väga sageli (80–99%) | Esineb 3 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Väga sageli (80–99%) | Esineb 3 haiguses |
| ERMARDER membrane associated RNA degradation | Väga sageli (80–99%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Väga sageli (80–99%) | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GHRgrowth hormone receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| GP1BBglycoprotein Ib platelet subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HIRAhistone cell cycle regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| IGF1insulin like growth factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| JMJD1Cjumonji domain containing 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Väga sageli (80–99%) | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KMT2Clysine methyltransferase 2C | Väga sageli (80–99%) | Esineb 2 haiguses |
| LAS1LLAS1 like ribosome biogenesis factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| MAN1B1mannosidase alpha class 1B member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MANBAmannosidase beta | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP14matrix metallopeptidase 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MMP2matrix metallopeptidase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NDE1nudE neurodevelopment protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Väga sageli (80–99%) | Esineb 1 haiguses |
| NOTCH2notch receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PACS1phosphofurin acidic cluster sorting protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEPDpeptidase D | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR1BRNA polymerase I subunit B | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRMT7protein arginine methyltransferase 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTRH2peptidyl-tRNA hydrolase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RDH11retinol dehydrogenase 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RELNreelin | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNF135ring finger protein 135 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RREB1ras responsive element binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RTTNrotatin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SEC24CSEC24 homolog C, COPII component | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SIN3ASIN3 transcription regulator family member A | Väga sageli (80–99%) | Esineb 1 haiguses |
| SIN3BSIN3 transcription regulator family member B | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKIC2SKI2 subunit of superkiller complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| STRADASTE20 related adaptor alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| TAF1TATA-box binding protein associated factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| THOC6THO complex subunit 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTI2TELO2 interacting protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| USP7ubiquitin specific peptidase 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WACWW domain containing adaptor with coiled-coil | Väga sageli (80–99%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNF699zinc finger protein 699 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AEBP1AE binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AHCYadenosylhomocysteinase | Sageli (30–79%) | Esineb 2 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sageli (30–79%) | Esineb 3 haiguses |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ATP10AATPase phospholipid transporting 10A (putative) | Sageli (30–79%) | Esineb 1 haiguses |
| B4GALT1beta-1,4-galactosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BCKDKbranched chain keto acid dehydrogenase kinase | Sageli (30–79%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Sageli (30–79%) | Esineb 1 haiguses |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Sageli (30–79%) | Esineb 1 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COG2component of oligomeric golgi complex 2 | Sageli (30–79%) | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Sageli (30–79%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Sageli (30–79%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Sageli (30–79%) | Esineb 1 haiguses |
| DHX9DExH-box helicase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| DLL1delta like canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sageli (30–79%) | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| EXTL3exostosin like glycosyltransferase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FAR1fatty acyl-CoA reductase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBLN5fibulin 5 | Sageli (30–79%) | Esineb 2 haiguses |
| FDXRferredoxin reductase | Sageli (30–79%) | Esineb 1 haiguses |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Sageli (30–79%) | Esineb 1 haiguses |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Sageli (30–79%) | Esineb 1 haiguses |
| KLF13KLF transcription factor 13 | Sageli (30–79%) | Esineb 1 haiguses |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Sageli (30–79%) | Esineb 2 haiguses |
| LMBRD1LMBR1 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| LTBP1latent transforming growth factor beta binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MID1midline 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MIR17HGmiR-17-92a-1 cluster host gene | Sageli (30–79%) | Esineb 1 haiguses |
| MOGSmannosyl-oligosaccharide glucosidase | Sageli (30–79%) | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Sageli (30–79%) | Esineb 1 haiguses |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NDNnecdin, MAGE family member | Sageli (30–79%) | Esineb 2 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sageli (30–79%) | Esineb 1 haiguses |
| NF1neurofibromin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NIPA1NIPA magnesium transporter 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NIPA2NIPA magnesium transporter 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Sageli (30–79%) | Esineb 1 haiguses |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PAHphenylalanine hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PDHBpyruvate dehydrogenase E1 subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sageli (30–79%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Sageli (30–79%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sageli (30–79%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Sageli (30–79%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Sageli (30–79%) | Esineb 2 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| POLD3DNA polymerase delta 3, accessory subunit | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sageli (30–79%) | Esineb 1 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sageli (30–79%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Sageli (30–79%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF168ring finger protein 168 | Sageli (30–79%) | Esineb 2 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS6KC1ribosomal protein S6 kinase C1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC35A2solute carrier family 35 member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sageli (30–79%) | Esineb 4 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SRD5A3steroid 5 alpha-reductase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TALDO1transaldolase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Sageli (30–79%) | Esineb 2 haiguses |
| TUBG1tubulin gamma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Sageli (30–79%) | Esineb 1 haiguses |
| AASSaminoadipate-semialdehyde synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACADSacyl-CoA dehydrogenase short chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCL1clathrin heavy chain like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF10fibroblast growth factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTM1myotubularin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGM3phosphoglucomutase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLXND1plexin D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSPHphosphoserine phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAC1Rac family small GTPase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH2B1SH2B adaptor protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMSspermine synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPEGstriated muscle enriched protein kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAG1STAG1 cohesin complex component | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM260transmembrane protein 260 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTNtitin | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBGCP4tubulin gamma complex component 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VMA22vacuolar ATPase assembly factor VMA22 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harva (1–4%) | Esineb 1 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harva (1–4%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| CIITAclass II major histocompatibility complex transactivator | Harva (1–4%) | Esineb 1 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Harva (1–4%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Harva (1–4%) | Esineb 1 haiguses |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harva (1–4%) | Esineb 1 haiguses |
| FLT4fms related receptor tyrosine kinase 4 | 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 |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| JAK3Janus kinase 3 | Harva (1–4%) | Esineb 1 haiguses |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Harva (1–4%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Harva (1–4%) | Esineb 1 haiguses |
| MMACHCmetabolism of cobalamin associated C | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| NUP107nucleoporin 107 | Harva (1–4%) | Esineb 2 haiguses |
| RFX5regulatory factor X5 | Harva (1–4%) | Esineb 1 haiguses |
| RFXANKregulatory factor X associated ankyrin containing protein | Harva (1–4%) | Esineb 1 haiguses |
| RFXAPregulatory factor X associated protein | 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 |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| STUB1STIP1 homology and U-box containing protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNDcholinergic receptor nicotinic delta subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Pole registreeritud | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Pole registreeritud | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Pole registreeritud | Esineb 1 haiguses |
| ETFAelectron transfer flavoprotein subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| ETFBelectron transfer flavoprotein subunit beta | Pole registreeritud | Esineb 1 haiguses |
| ETFDHelectron transfer flavoprotein dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Pole registreeritud | Esineb 1 haiguses |
| HPSE2heparanase 2 (inactive) | Pole registreeritud | Esineb 1 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| KIF4Akinesin family member 4A | Pole registreeritud | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Pole registreeritud | Esineb 1 haiguses |
| KMT2Elysine methyltransferase 2E (inactive) | Pole registreeritud | Esineb 1 haiguses |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Pole registreeritud | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| PDE6Dphosphodiesterase 6D | Pole registreeritud | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Pole registreeritud | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Pole registreeritud | Esineb 1 haiguses |
| PHF21APHD finger protein 21A | Pole registreeritud | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Pole registreeritud | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Pole registreeritud | Esineb 1 haiguses |
| RPS17ribosomal protein S17 | Pole registreeritud | Esineb 1 haiguses |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Pole registreeritud | Esineb 1 haiguses |
| TSEN15tRNA splicing endonuclease subunit 15 | Pole registreeritud | Esineb 1 haiguses |
| TSEN2tRNA splicing endonuclease subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| TSEN34tRNA splicing endonuclease subunit 34 | Pole registreeritud | Esineb 1 haiguses |
| WDR81WD repeat domain 81 | 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.
Kitsamad tunnused
- Coarse facial features252 geeni
- Triangular face189 geeni
- Facial asymmetry153 geeni
- Flat face115 geeni
- Round face112 geeni
- Elf-like facial appearance22 geeni
- Small face20 geeni
- Oval face19 geeni
- Bird-like facial appearance18 geeni
- Square face16 geeni
- Moon face15 geeni
- Large face11 geeni
- Craniofacial disproportion6 geeni
- Facial shape deformation6 geeni
- Doll-like facial appearance4 geeni
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 2026.10.17-8666dff2.
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