Piirre
Midface retrusion
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Yhteenveto
- Tunnetaan myös nimellä
- Decreased projection of midface, Decreased size of midface, Midface deficiency, Small midface, Underdevelopment of midface, Flat midface, Hypoplasia of midface, Midface hypoplasia, Midface, flat, Retrusive midface
- Elimistön järjestelmä
- Abnormality of head or neck
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
Read the genes linked to Midface retrusion, and the rest of your genome, with one test.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test310 geeniä, jotka liittyvät piirteeseen Midface retrusion
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Midface retrusion 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Aina | 2 sairaudessa |
| AMOTL1angiomotin like 1 | Aina | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Aina | 3 sairaudessa |
| B3GALT6beta-1,3-galactosyltransferase 6 | Aina | 3 sairaudessa |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Aina | 1 sairaudessa |
| BANF1barrier to autointegration nuclear assembly factor 1 | Aina | 1 sairaudessa |
| BUD13BUD13 spliceosome associated protein | Aina | 1 sairaudessa |
| CDC42cell division cycle 42 | Aina | 2 sairaudessa |
| CHST3carbohydrate sulfotransferase 3 | Aina | 1 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Aina | 1 sairaudessa |
| COL11A1collagen type XI alpha 1 chain | Aina | 3 sairaudessa |
| COL11A2collagen type XI alpha 2 chain | Aina | 4 sairaudessa |
| COL27A1collagen type XXVII alpha 1 chain | Aina | 1 sairaudessa |
| COL9A2collagen type IX alpha 2 chain | Aina | 3 sairaudessa |
| COX15cytochrome c oxidase assembly factor COX15 | Aina | 1 sairaudessa |
| CUL7cullin 7 | Aina | 2 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Aina | 3 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Aina | 2 sairaudessa |
| FGFR2fibroblast growth factor receptor 2 | Aina | 14 sairaudessa |
| FGFR3fibroblast growth factor receptor 3 | Aina | 6 sairaudessa |
| GGCXgamma-glutamyl carboxylase | Aina | 1 sairaudessa |
| GNPATglyceronephosphate O-acyltransferase | Aina | 1 sairaudessa |
| HOXB1homeobox B1 | Aina | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 1 sairaudessa |
| IFT52intraflagellar transport 52 | Aina | 1 sairaudessa |
| IKZF2IKAROS family zinc finger 2 | Aina | 1 sairaudessa |
| IREB2iron responsive element binding protein 2 | Aina | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Aina | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Aina | 1 sairaudessa |
| KIF22kinesin family member 22 | Aina | 2 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Aina | 2 sairaudessa |
| LINS1lines homolog 1 | Aina | 1 sairaudessa |
| MAD1L1mitotic arrest deficient 1 like 1 | Aina | 1 sairaudessa |
| MAFMAF bZIP transcription factor | Aina | 1 sairaudessa |
| MGPmatrix Gla protein | Aina | 2 sairaudessa |
| MIR140microRNA 140 | Aina | 1 sairaudessa |
| MRPS14mitochondrial ribosomal protein S14 | Aina | 1 sairaudessa |
| NBNnibrin | Aina | 1 sairaudessa |
| P4HBprolyl 4-hydroxylase subunit beta | Aina | 2 sairaudessa |
Näytä 270 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Aina | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Aina | 2 sairaudessa |
| PSMC1proteasome 26S subunit, ATPase 1 | Aina | 1 sairaudessa |
| PTH1Rparathyroid hormone 1 receptor | Aina | 1 sairaudessa |
| PTRH2peptidyl-tRNA hydrolase 2 | Aina | 1 sairaudessa |
| RAC3Rac family small GTPase 3 | Aina | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Aina | 2 sairaudessa |
| RPS28ribosomal protein S28 | Aina | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Aina | 1 sairaudessa |
| SEC23ASEC23 homolog A, COPII component | Aina | 1 sairaudessa |
| SEC24DSEC24 homolog D, COPII component | Aina | 2 sairaudessa |
| SF3B4splicing factor 3b subunit 4 | Aina | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Aina | 1 sairaudessa |
| SLC35D1solute carrier family 35 member D1 | Aina | 1 sairaudessa |
| SMAD2SMAD family member 2 | Aina | 2 sairaudessa |
| SMAD4SMAD family member 4 | Aina | 2 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Aina | 1 sairaudessa |
| SOX9SRY-box transcription factor 9 | Aina | 1 sairaudessa |
| SP7Sp7 transcription factor | Aina | 1 sairaudessa |
| TGFB3transforming growth factor beta 3 | Aina | 1 sairaudessa |
| TSR2TSR2 ribosome maturation factor | Aina | 1 sairaudessa |
| ZNF407zinc finger protein 407 | Aina | 1 sairaudessa |
| ACANaggrecan | Hyvin usein (80–99%) | 4 sairaudessa |
| ANTXR1ANTXR cell adhesion molecule 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BMP2bone morphogenetic protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| CASZ1castor zinc finger 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CBLCbl proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Hyvin usein (80–99%) | 2 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Hyvin usein (80–99%) | 1 sairaudessa |
| CRTAPcartilage associated protein | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| FLNBfilamin B | Hyvin usein (80–99%) | 4 sairaudessa |
| FZD2frizzled class receptor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Hyvin usein (80–99%) | 1 sairaudessa |
| HCCSholocytochrome c synthase | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC4histone deacetylase 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| LBRlamin B receptor | Hyvin usein (80–99%) | 3 sairaudessa |
| LUZP1leucine zipper protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LZTR1leucine zipper like post translational regulator 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| MMP23Bmatrix metallopeptidase 23B | Hyvin usein (80–99%) | 1 sairaudessa |
| MN1MN1 proto-oncogene, transcriptional regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| MRASmuscle RAS oncogene homolog | Hyvin usein (80–99%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Hyvin usein (80–99%) | 1 sairaudessa |
| NFIXnuclear factor I X | Hyvin usein (80–99%) | 2 sairaudessa |
| NRASNRAS proto-oncogene, GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| NXNnucleoredoxin | Hyvin usein (80–99%) | 2 sairaudessa |
| OBSL1obscurin like cytoskeletal adaptor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE4Dphosphodiesterase 4D | Hyvin usein (80–99%) | 2 sairaudessa |
| PDPNpodoplanin | Hyvin usein (80–99%) | 1 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Hyvin usein (80–99%) | 2 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 |
| PRDM16PR/SET domain 16 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRKCZprotein kinase C zeta | Hyvin usein (80–99%) | 1 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| RASA2RAS p21 protein activator 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Hyvin usein (80–99%) | 1 sairaudessa |
| RIT1Ras like without CAAX 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ROR2ROR family WNT receptor 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| RRASRAS related | Hyvin usein (80–99%) | 1 sairaudessa |
| RRAS2RAS related 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SKISKI proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC26A2solute carrier family 26 member 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| SONSON DNA and RNA binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Hyvin usein (80–99%) | 1 sairaudessa |
| SPRED2sprouty related EVH1 domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| TCOF1treacle ribosome biogenesis factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TMCO1transmembrane and coiled-coil domains 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TONSLtonsoku like, DNA repair protein | Hyvin usein (80–99%) | 2 sairaudessa |
| UBE4Bubiquitination factor E4B | Hyvin usein (80–99%) | 1 sairaudessa |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| WNT5AWnt family member 5A | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNHIT3zinc finger HIT-type containing 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACP5acid phosphatase 5, tartrate resistant | Usein (30–79%) | 2 sairaudessa |
| BCL11ABCL11 transcription factor A | Usein (30–79%) | 1 sairaudessa |
| BPTFbromodomain PHD finger transcription factor | Usein (30–79%) | 1 sairaudessa |
| CCDC47coiled-coil domain containing 47 | Usein (30–79%) | 1 sairaudessa |
| CDK19cyclin dependent kinase 19 | Usein (30–79%) | 1 sairaudessa |
| CHD1chromodomain helicase DNA binding protein 1 | Usein (30–79%) | 2 sairaudessa |
| COL2A1collagen type II alpha 1 chain | Usein (30–79%) | 6 sairaudessa |
| COL9A1collagen type IX alpha 1 chain | Usein (30–79%) | 1 sairaudessa |
| COL9A3collagen type IX alpha 3 chain | Usein (30–79%) | 2 sairaudessa |
| CPLX1complexin 1 | Usein (30–79%) | 1 sairaudessa |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| CTSKcathepsin K | Usein (30–79%) | 1 sairaudessa |
| DHRS3dehydrogenase/reductase 3 | Usein (30–79%) | 1 sairaudessa |
| DLX4distal-less homeobox 4 | Usein (30–79%) | 1 sairaudessa |
| DPH5diphthamide biosynthesis 5 | Usein (30–79%) | 1 sairaudessa |
| EBPEBP cholestenol delta-isomerase | Usein (30–79%) | 2 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Usein (30–79%) | 3 sairaudessa |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Usein (30–79%) | 1 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Usein (30–79%) | 1 sairaudessa |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| FOXC1forkhead box C1 | Usein (30–79%) | 2 sairaudessa |
| GPC4glypican 4 | Usein (30–79%) | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Usein (30–79%) | 1 sairaudessa |
| IFT81intraflagellar transport 81 | Usein (30–79%) | 1 sairaudessa |
| IL11RAinterleukin 11 receptor subunit alpha | Usein (30–79%) | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Usein (30–79%) | 1 sairaudessa |
| KMT2Clysine methyltransferase 2C | Usein (30–79%) | 2 sairaudessa |
| LEMD2LEM domain nuclear envelope protein 2 | Usein (30–79%) | 1 sairaudessa |
| LIFRLIF receptor subunit alpha | Usein (30–79%) | 1 sairaudessa |
| LOXL3lysyl oxidase like 3 | Usein (30–79%) | 1 sairaudessa |
| LRRC32leucine rich repeat containing 32 | Usein (30–79%) | 1 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Usein (30–79%) | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Usein (30–79%) | 1 sairaudessa |
| MEGF8multiple EGF like domains 8 | Usein (30–79%) | 1 sairaudessa |
| NECTIN1nectin cell adhesion molecule 1 | Usein (30–79%) | 1 sairaudessa |
| NKAPNFKB activating protein | Usein (30–79%) | 1 sairaudessa |
| OTUD5OTU deubiquitinase 5 | Usein (30–79%) | 1 sairaudessa |
| PITX2paired like homeodomain 2 | Usein (30–79%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Usein (30–79%) | 2 sairaudessa |
| POLR1ARNA polymerase I subunit A | Usein (30–79%) | 1 sairaudessa |
| PORcytochrome p450 oxidoreductase | Usein (30–79%) | 3 sairaudessa |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PRR12proline rich 12 | Usein (30–79%) | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Usein (30–79%) | 1 sairaudessa |
| PTENphosphatase and tensin homolog | Usein (30–79%) | 2 sairaudessa |
| PYCR1pyrroline-5-carboxylate reductase 1 | Usein (30–79%) | 1 sairaudessa |
| RAP1BRAP1B, member of RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| RMP64ribonuclease MRP subunit p64 | Usein (30–79%) | 1 sairaudessa |
| RNF13ring finger protein 13 | Usein (30–79%) | 2 sairaudessa |
| RUNX2RUNX family transcription factor 2 | Usein (30–79%) | 2 sairaudessa |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| SOX11SRY-box transcription factor 11 | Usein (30–79%) | 1 sairaudessa |
| TBC1D32TBC1 domain family member 32 | Usein (30–79%) | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| TLK2tousled like kinase 2 | Usein (30–79%) | 1 sairaudessa |
| TWIST1twist family bHLH transcription factor 1 | Usein (30–79%) | 2 sairaudessa |
| UBE2Aubiquitin conjugating enzyme E2 A | Usein (30–79%) | 2 sairaudessa |
| WASF1WASP family member 1 | Usein (30–79%) | 1 sairaudessa |
| YME1L1YME1 like 1 ATPase | Usein (30–79%) | 1 sairaudessa |
| ZBTB20zinc finger and BTB domain containing 20 | Usein (30–79%) | 2 sairaudessa |
| ACTBactin beta | Joskus (5–29%) | 2 sairaudessa |
| ADNPactivity dependent neuroprotector homeobox | Joskus (5–29%) | 1 sairaudessa |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Joskus (5–29%) | 2 sairaudessa |
| ANKRD17ankyrin repeat domain 17 | Joskus (5–29%) | 1 sairaudessa |
| ATXN7L3ataxin 7 like 3 | Joskus (5–29%) | 1 sairaudessa |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Joskus (5–29%) | 1 sairaudessa |
| BORCS8BLOC-1 related complex subunit 8 | Joskus (5–29%) | 1 sairaudessa |
| BRF1BRF1 general transcription factor IIIB subunit | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Joskus (5–29%) | 1 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Joskus (5–29%) | 1 sairaudessa |
| COL18A1collagen type XVIII alpha 1 chain | Joskus (5–29%) | 2 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Joskus (5–29%) | 2 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Joskus (5–29%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Joskus (5–29%) | 2 sairaudessa |
| DDB1damage specific DNA binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Joskus (5–29%) | 1 sairaudessa |
| DHX37DEAH-box helicase 37 | Joskus (5–29%) | 1 sairaudessa |
| DOT1LDOT1 like histone lysine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ERFETS2 repressor factor | Joskus (5–29%) | 1 sairaudessa |
| FAM50Afamily with sequence similarity 50 member A | Joskus (5–29%) | 1 sairaudessa |
| FBN1fibrillin 1 | Joskus (5–29%) | 1 sairaudessa |
| FIBPFGF1 intracellular binding protein | Joskus (5–29%) | 2 sairaudessa |
| GDF11growth differentiation factor 11 | Joskus (5–29%) | 1 sairaudessa |
| GHRgrowth hormone receptor | Joskus (5–29%) | 1 sairaudessa |
| GLI2GLI family zinc finger 2 | Joskus (5–29%) | 2 sairaudessa |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Joskus (5–29%) | 1 sairaudessa |
| H19H19 imprinted maternally expressed transcript | Joskus (5–29%) | 1 sairaudessa |
| H3-3AH3.3 histone A | Joskus (5–29%) | 1 sairaudessa |
| H3-3BH3.3 histone B | Joskus (5–29%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Joskus (5–29%) | 1 sairaudessa |
| IGF2insulin like growth factor 2 | Joskus (5–29%) | 2 sairaudessa |
| ITCHitchy E3 ubiquitin protein ligase | Joskus (5–29%) | 2 sairaudessa |
| JARID2jumonji and AT-rich interaction domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| KIF15kinesin family member 15 | Joskus (5–29%) | 1 sairaudessa |
| KLHL20kelch like family member 20 | Joskus (5–29%) | 1 sairaudessa |
| LHX3LIM homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| LHX4LIM homeobox 4 | Joskus (5–29%) | 1 sairaudessa |
| LTBP4latent transforming growth factor beta binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| MED13Lmediator complex subunit 13L | Joskus (5–29%) | 1 sairaudessa |
| MED16mediator complex subunit 16 | Joskus (5–29%) | 1 sairaudessa |
| MIPEPmitochondrial intermediate peptidase | Joskus (5–29%) | 1 sairaudessa |
| MYSM1Myb like, SWIRM and MPN domains 1 | Joskus (5–29%) | 2 sairaudessa |
| NGLY1N-glycanase 1 | Joskus (5–29%) | 1 sairaudessa |
| NSMCE3NSE3 component of SMC5/6 complex | Joskus (5–29%) | 1 sairaudessa |
| PAK2p21 (RAC1) activated kinase 2 | Joskus (5–29%) | 1 sairaudessa |
| PKD2polycystin 2, transient receptor potential cation channel | Joskus (5–29%) | 1 sairaudessa |
| PLP1proteolipid protein 1 | Joskus (5–29%) | 1 sairaudessa |
| POU1F1POU class 1 homeobox 1 | Joskus (5–29%) | 2 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Joskus (5–29%) | 1 sairaudessa |
| PROP1PROP paired-like homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| SATB1SATB homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| SH2B1SH2B adaptor protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SIX3SIX homeobox 3 | Joskus (5–29%) | 1 sairaudessa |
| SLC9A7solute carrier family 9 member A7 | Joskus (5–29%) | 1 sairaudessa |
| TCF12transcription factor 12 | Joskus (5–29%) | 1 sairaudessa |
| TMEM165transmembrane protein 165 | Joskus (5–29%) | 1 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Joskus (5–29%) | 1 sairaudessa |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Joskus (5–29%) | 1 sairaudessa |
| TSEN54tRNA splicing endonuclease subunit 54 | Joskus (5–29%) | 1 sairaudessa |
| TUBGCP2tubulin gamma complex component 2 | Joskus (5–29%) | 1 sairaudessa |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Joskus (5–29%) | 1 sairaudessa |
| WDR26WD repeat domain 26 | Joskus (5–29%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Joskus (5–29%) | 1 sairaudessa |
| ZIC1Zic family zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| CLCN4Cl-/H+ antiporter 4 | Harvinainen (1–4 %) | 2 sairaudessa |
| HEPACAMhepatic and glial cell adhesion molecule | Harvinainen (1–4 %) | 1 sairaudessa |
| MSL2MSL complex subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ei kirjattu | 1 sairaudessa |
| AMMECR1AMMECR nuclear protein 1 | Ei kirjattu | 1 sairaudessa |
| AMPD2adenosine monophosphate deaminase 2 | Ei kirjattu | 1 sairaudessa |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ei kirjattu | 1 sairaudessa |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ei kirjattu | 1 sairaudessa |
| BICD2BICD cargo adaptor 2 | Ei kirjattu | 1 sairaudessa |
| BMP4bone morphogenetic protein 4 | Ei kirjattu | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ei kirjattu | 1 sairaudessa |
| CANT1calcium activated nucleotidase 1 | Ei kirjattu | 1 sairaudessa |
| CDH11cadherin 11 | Ei kirjattu | 1 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ei kirjattu | 1 sairaudessa |
| CEP120centrosomal protein 120 | Ei kirjattu | 1 sairaudessa |
| CHD3chromodomain helicase DNA binding protein 3 | Ei kirjattu | 1 sairaudessa |
| COG1component of oligomeric golgi complex 1 | Ei kirjattu | 1 sairaudessa |
| DCHS1dachsous cadherin-related 1 | Ei kirjattu | 1 sairaudessa |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ei kirjattu | 2 sairaudessa |
| DSEdermatan sulfate epimerase | Ei kirjattu | 1 sairaudessa |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Ei kirjattu | 1 sairaudessa |
| ELNelastin | Ei kirjattu | 1 sairaudessa |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ei kirjattu | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Ei kirjattu | 1 sairaudessa |
| FLNAfilamin A | Ei kirjattu | 1 sairaudessa |
| FOXG1forkhead box G1 | Ei kirjattu | 1 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Ei kirjattu | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ei kirjattu | 1 sairaudessa |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ei kirjattu | 1 sairaudessa |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ei kirjattu | 1 sairaudessa |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ei kirjattu | 1 sairaudessa |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ei kirjattu | 1 sairaudessa |
| LMNAlamin A/C | Ei kirjattu | 1 sairaudessa |
| LRP2LDL receptor related protein 2 | Ei kirjattu | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ei kirjattu | 1 sairaudessa |
| MAN2B1mannosidase alpha class 2B member 1 | Ei kirjattu | 1 sairaudessa |
| MESDmesoderm development LRP chaperone | Ei kirjattu | 1 sairaudessa |
| MLXIPLMLX interacting protein like | Ei kirjattu | 1 sairaudessa |
| MTORmechanistic target of rapamycin kinase | Ei kirjattu | 1 sairaudessa |
| NF1neurofibromin 1 | Ei kirjattu | 1 sairaudessa |
| OSGEPO-sialoglycoprotein endopeptidase | Ei kirjattu | 1 sairaudessa |
| PDGFRBplatelet derived growth factor receptor beta | Ei kirjattu | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Ei kirjattu | 1 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ei kirjattu | 1 sairaudessa |
| POP1POP1 ribonuclease P/MRP subunit | Ei kirjattu | 1 sairaudessa |
| PTCH1patched 1 | Ei kirjattu | 1 sairaudessa |
| RAB23RAB23, member RAS oncogene family | Ei kirjattu | 1 sairaudessa |
| RFWD3ring finger and WD repeat domain 3 | Ei kirjattu | 1 sairaudessa |
| RNU12RNA, U12 small nuclear | Ei kirjattu | 1 sairaudessa |
| SATB2SATB homeobox 2 | Ei kirjattu | 1 sairaudessa |
| SERPINH1serpin family H member 1 | Ei kirjattu | 1 sairaudessa |
| SHHsonic hedgehog signaling molecule | Ei kirjattu | 1 sairaudessa |
| SLC6A8solute carrier family 6 member 8 | Ei kirjattu | 1 sairaudessa |
| SOSTsclerostin | Ei kirjattu | 1 sairaudessa |
| STAC3SH3 and cysteine rich domain 3 | Ei kirjattu | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Ei kirjattu | 1 sairaudessa |
| TCF20transcription factor 20 | Ei kirjattu | 1 sairaudessa |
| WACWW domain containing adaptor with coiled-coil | Ei kirjattu | 1 sairaudessa |
| WDR35WD repeat domain 35 | Ei kirjattu | 1 sairaudessa |
| WDR73WD repeat domain 73 | Ei kirjattu | 1 sairaudessa |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa