Piirre
Sloping forehead
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Yhteenveto
- Tunnetaan myös nimellä
- Inclined forehead, Receding forehead, Posteriorly sloping forehead
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test201 geeniä, jotka liittyvät piirteeseen Sloping forehead
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Sloping forehead 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Aina | 1 sairaudessa |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Aina | 2 sairaudessa |
| ASPMassembly factor for spindle microtubules | Aina | 2 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Aina | 1 sairaudessa |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Aina | 2 sairaudessa |
| CDK6cyclin dependent kinase 6 | Aina | 2 sairaudessa |
| CENPEcentromere protein E | Aina | 2 sairaudessa |
| CEP135centrosomal protein 135 | Aina | 2 sairaudessa |
| CEP152centrosomal protein 152 | Aina | 2 sairaudessa |
| COASYCoenzyme A synthase | Aina | 1 sairaudessa |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Aina | 1 sairaudessa |
| DDX11DEAD/H-box helicase 11 | Aina | 1 sairaudessa |
| FKBP14FKBP prolyl isomerase 14 | Aina | 1 sairaudessa |
| INTS11integrator complex subunit 11 | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KNL1kinetochore scaffold 1 | Aina | 2 sairaudessa |
| NBNnibrin | Aina | 2 sairaudessa |
| NCAPD2non-SMC condensin I complex subunit D2 | Aina | 1 sairaudessa |
| NCAPHnon-SMC condensin I complex subunit H | Aina | 1 sairaudessa |
| NUP107nucleoporin 107 | Aina | 2 sairaudessa |
| PSAT1phosphoserine aminotransferase 1 | Aina | 2 sairaudessa |
| RBBP8RB binding protein 8, endonuclease | Aina | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Aina | 3 sairaudessa |
| RRP7Aribosomal RNA processing 7 homolog A | Aina | 1 sairaudessa |
| SLC25A19solute carrier family 25 member 19 | Aina | 2 sairaudessa |
| STAG2STAG2 cohesin complex component | Aina | 1 sairaudessa |
| STILSTIL centriolar assembly protein | Aina | 2 sairaudessa |
| TSEN2tRNA splicing endonuclease subunit 2 | Aina | 2 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Aina | 1 sairaudessa |
| WDR62WD repeat domain 62 | Aina | 2 sairaudessa |
| CITcitron rho-interacting serine/threonine kinase | Hyvin usein (80–99%) | 2 sairaudessa |
| COPB2coat protein complex I subunit beta 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| CPAPcentrosome assembly and centriole elongation protein | Hyvin usein (80–99%) | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Hyvin usein (80–99%) | 1 sairaudessa |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| KAT6Blysine acetyltransferase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| KIF14kinesin family member 14 | Hyvin usein (80–99%) | 3 sairaudessa |
| MCM7minichromosome maintenance complex component 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| MCPH1microcephalin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| METTL5methyltransferase 5, N6-adenosine | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 161 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Hyvin usein (80–99%) | 1 sairaudessa |
| NCAPD3non-SMC condensin II complex subunit D3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NHEJ1non-homologous end joining factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NUP37nucleoporin 37 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDCD6IPprogrammed cell death 6 interacting protein | Hyvin usein (80–99%) | 1 sairaudessa |
| PHC1polyhomeotic homolog 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PTH1Rparathyroid hormone 1 receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| PYCR2pyrroline-5-carboxylate reductase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RUNX2RUNX family transcription factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SARS1seryl-tRNA synthetase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SASS6SAS-6 centriolar assembly protein | Hyvin usein (80–99%) | 1 sairaudessa |
| TAF13TATA-box binding protein associated factor 13 | Hyvin usein (80–99%) | 1 sairaudessa |
| TRAPPC10trafficking protein particle complex subunit 10 | Hyvin usein (80–99%) | 1 sairaudessa |
| TRAPPC14trafficking protein particle complex subunit 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| WARS1tryptophanyl-tRNA synthetase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNF526zinc finger protein 526 | Hyvin usein (80–99%) | 1 sairaudessa |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Usein (30–79%) | 1 sairaudessa |
| B9D1B9 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| B9D2B9 domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Usein (30–79%) | 1 sairaudessa |
| C2CD3C2 domain containing 3 centriole elongation regulator | Usein (30–79%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Usein (30–79%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Usein (30–79%) | 1 sairaudessa |
| CEP295centrosomal protein 295 | Usein (30–79%) | 1 sairaudessa |
| COG4component of oligomeric golgi complex 4 | Usein (30–79%) | 1 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| EXOC2exocyst complex component 2 | Usein (30–79%) | 1 sairaudessa |
| EXOSC5exosome component 5 | Usein (30–79%) | 1 sairaudessa |
| FKRPfukutin related protein | Usein (30–79%) | 1 sairaudessa |
| FKTNfukutin | Usein (30–79%) | 1 sairaudessa |
| GLI3GLI family zinc finger 3 | Usein (30–79%) | 1 sairaudessa |
| GPKOWG-patch domain and KOW motifs | Usein (30–79%) | 1 sairaudessa |
| KATNB1katanin regulatory subunit B1 | Usein (30–79%) | 2 sairaudessa |
| KIF7kinesin family member 7 | Usein (30–79%) | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| MGPmatrix Gla protein | Usein (30–79%) | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Usein (30–79%) | 2 sairaudessa |
| NDE1nudE neurodevelopment protein 1 | Usein (30–79%) | 2 sairaudessa |
| PAK3p21 (RAC1) activated kinase 3 | Usein (30–79%) | 1 sairaudessa |
| PHGDHphosphoglycerate dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| PLK4polo like kinase 4 | Usein (30–79%) | 2 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| PUM1pumilio RNA binding family member 1 | Usein (30–79%) | 1 sairaudessa |
| QARS1glutaminyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| RBM10RNA binding motif protein 10 | Usein (30–79%) | 1 sairaudessa |
| RBSNrabenosyn, RAB effector | Usein (30–79%) | 1 sairaudessa |
| RELREL proto-oncogene, NF-kB subunit | Usein (30–79%) | 1 sairaudessa |
| RELNreelin | Usein (30–79%) | 2 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| RPGRIP1LRPGRIP1 like | Usein (30–79%) | 1 sairaudessa |
| RTTNrotatin | Usein (30–79%) | 1 sairaudessa |
| SC5Dsterol-C5-desaturase | Usein (30–79%) | 1 sairaudessa |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Usein (30–79%) | 1 sairaudessa |
| TCTN1tectonic family member 1 | Usein (30–79%) | 1 sairaudessa |
| TCTN2tectonic family member 2 | Usein (30–79%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Usein (30–79%) | 1 sairaudessa |
| TMEM107transmembrane protein 107 | Usein (30–79%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Usein (30–79%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Usein (30–79%) | 1 sairaudessa |
| TMEM237transmembrane protein 237 | Usein (30–79%) | 1 sairaudessa |
| TMEM67transmembrane protein 67 | Usein (30–79%) | 1 sairaudessa |
| TSEN15tRNA splicing endonuclease subunit 15 | Usein (30–79%) | 1 sairaudessa |
| TSEN34tRNA splicing endonuclease subunit 34 | Usein (30–79%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Usein (30–79%) | 2 sairaudessa |
| TUBGCP4tubulin gamma complex component 4 | Usein (30–79%) | 1 sairaudessa |
| TUBGCP6tubulin gamma complex component 6 | Usein (30–79%) | 2 sairaudessa |
| TXNDC15thioredoxin domain containing 15 | Usein (30–79%) | 1 sairaudessa |
| VARS1valyl-tRNA synthetase 1 | Usein (30–79%) | 1 sairaudessa |
| WLSWnt ligand secretion mediator | Usein (30–79%) | 1 sairaudessa |
| XPO1exportin 1 | Usein (30–79%) | 1 sairaudessa |
| ADAT3adenosine deaminase tRNA specific 3 | Joskus (5–29%) | 1 sairaudessa |
| BRCA1BRCA1 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRIP1BRCA1 interacting DNA helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Joskus (5–29%) | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Joskus (5–29%) | 1 sairaudessa |
| BUB3BUB3 mitotic checkpoint protein | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Joskus (5–29%) | 1 sairaudessa |
| CEP57centrosomal protein 57 | Joskus (5–29%) | 1 sairaudessa |
| CNOT1CCR4-NOT transcription complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| CRELD1CRELD disulfide isomerase 1 | Joskus (5–29%) | 1 sairaudessa |
| CTSDcathepsin D | Joskus (5–29%) | 1 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| FAAP100FA core complex associated protein 100 | Joskus (5–29%) | 1 sairaudessa |
| FANCAFA complementation group A | Joskus (5–29%) | 1 sairaudessa |
| FANCBFA complementation group B | Joskus (5–29%) | 1 sairaudessa |
| FANCCFA complementation group C | Joskus (5–29%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Joskus (5–29%) | 1 sairaudessa |
| FANCEFA complementation group E | Joskus (5–29%) | 1 sairaudessa |
| FANCFFA complementation group F | Joskus (5–29%) | 1 sairaudessa |
| FANCGFA complementation group G | Joskus (5–29%) | 1 sairaudessa |
| FANCIFA complementation group I | Joskus (5–29%) | 1 sairaudessa |
| FANCLFA complementation group L | Joskus (5–29%) | 1 sairaudessa |
| FANCMFA complementation group M | Joskus (5–29%) | 1 sairaudessa |
| IL11RAinterleukin 11 receptor subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Joskus (5–29%) | 2 sairaudessa |
| KIFBPkinesin family binding protein | Joskus (5–29%) | 1 sairaudessa |
| LTBP4latent transforming growth factor beta binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| MAD2L2mitotic arrest deficient 2 like 2 | Joskus (5–29%) | 1 sairaudessa |
| NFIXnuclear factor I X | Joskus (5–29%) | 1 sairaudessa |
| PALB2partner and localizer of BRCA2 | Joskus (5–29%) | 1 sairaudessa |
| PCDHGC4protocadherin gamma subfamily C, 4 | Joskus (5–29%) | 1 sairaudessa |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Joskus (5–29%) | 1 sairaudessa |
| RAD51RAD51 recombinase | Joskus (5–29%) | 1 sairaudessa |
| RAD51CRAD51 paralog C | Joskus (5–29%) | 1 sairaudessa |
| RFWD3ring finger and WD repeat domain 3 | Joskus (5–29%) | 1 sairaudessa |
| SLX4SLX4 structure-specific endonuclease subunit | Joskus (5–29%) | 1 sairaudessa |
| SMPD4sphingomyelin phosphodiesterase 4 | Joskus (5–29%) | 1 sairaudessa |
| TBCBtubulin folding cofactor B | Joskus (5–29%) | 1 sairaudessa |
| TBCKTBC1 domain containing kinase | Joskus (5–29%) | 2 sairaudessa |
| TRIP12thyroid hormone receptor interactor 12 | Joskus (5–29%) | 1 sairaudessa |
| TRIP13thyroid hormone receptor interactor 13 | Joskus (5–29%) | 1 sairaudessa |
| TTI2TELO2 interacting protein 2 | Joskus (5–29%) | 2 sairaudessa |
| TUBGCP2tubulin gamma complex component 2 | Joskus (5–29%) | 1 sairaudessa |
| UBE2Tubiquitin conjugating enzyme E2 T | Joskus (5–29%) | 1 sairaudessa |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| UGP2UDP-glucose pyrophosphorylase 2 | Joskus (5–29%) | 1 sairaudessa |
| XRCC2X-ray repair cross complementing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZIC2Zic family zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| ARXaristaless related homeobox | Harvinainen (1–4 %) | 1 sairaudessa |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Harvinainen (1–4 %) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Harvinainen (1–4 %) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| DMXL2Dmx like 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| GNAO1G protein subunit alpha o1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRM7glutamate metabotropic receptor 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NEUROD2neuronal differentiation 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PAHphenylalanine hydroxylase | Harvinainen (1–4 %) | 1 sairaudessa |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Harvinainen (1–4 %) | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Harvinainen (1–4 %) | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Harvinainen (1–4 %) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SIK1salt inducible kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC25A22solute carrier family 25 member 22 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| ATRATR checkpoint kinase | Ei kirjattu | 1 sairaudessa |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Ei kirjattu | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ei kirjattu | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ei kirjattu | 1 sairaudessa |
| OCLNoccludin | Ei kirjattu | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Ei kirjattu | 1 sairaudessa |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| PCNTpericentrin | Ei kirjattu | 1 sairaudessa |
| PHF8PHD finger protein 8 | Ei kirjattu | 1 sairaudessa |
| PRUNE1prune exopolyphosphatase 1 | Ei kirjattu | 1 sairaudessa |
| SETBP1SET binding protein 1 | Ei kirjattu | 1 sairaudessa |
| STAMBPSTAM binding protein | Ei kirjattu | 1 sairaudessa |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Ei kirjattu | 1 sairaudessa |
| VPS33BVPS33B late endosome and lysosome associated | Ei kirjattu | 1 sairaudessa |
| WDR73WD repeat domain 73 | Ei kirjattu | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | Ei kirjattu | 1 sairaudessa |
| ZNF335zinc finger protein 335 | 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.
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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Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa