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Træk
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.
Resumé
- Også kaldet
- 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
- Kropssystem
- Abnormality of head or neck
AtlasHvem vi hjælperVores videnskabProdukterResultater
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/midface-retrusion.json"
page <- fromJSON(url)
page$trait$nameMidface retrusionHP:0011800
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Midface retrusion, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test310 gener knyttet til Midface retrusion
Ændringer i disse gener forårsager sjældne tilstande, hvor Midface retrusion ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Altid | I 2 tilstande |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ATRXATRX chromatin remodeler | Altid | I 3 tilstande |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 3 tilstande |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Altid | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Altid | I 1 tilstand |
| BUD13BUD13 spliceosome associated protein | Altid | I 1 tilstand |
| CDC42cell division cycle 42 | Altid | I 2 tilstande |
| CHST3carbohydrate sulfotransferase 3 | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Altid | I 3 tilstande |
| COL11A2collagen type XI alpha 2 chain | Altid | I 4 tilstande |
| COL27A1collagen type XXVII alpha 1 chain | Altid | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Altid | I 3 tilstande |
| COX15cytochrome c oxidase assembly factor COX15 | Altid | I 1 tilstand |
| CUL7cullin 7 | Altid | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Altid | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Altid | I 2 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 14 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 6 tilstande |
| GGCXgamma-glutamyl carboxylase | Altid | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Altid | I 1 tilstand |
| HOXB1homeobox B1 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| IFT52intraflagellar transport 52 | Altid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Altid | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Altid | I 1 tilstand |
| KIF22kinesin family member 22 | Altid | I 2 tilstande |
| KMT2Dlysine methyltransferase 2D | Altid | I 2 tilstande |
| LINS1lines homolog 1 | Altid | I 1 tilstand |
| MAD1L1mitotic arrest deficient 1 like 1 | Altid | I 1 tilstand |
| MAFMAF bZIP transcription factor | Altid | I 1 tilstand |
| MGPmatrix Gla protein | Altid | I 2 tilstande |
| MIR140microRNA 140 | Altid | I 1 tilstand |
| MRPS14mitochondrial ribosomal protein S14 | Altid | I 1 tilstand |
| NBNnibrin | Altid | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Altid | I 2 tilstande |
Vis 270 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Altid | I 2 tilstande |
| PSMC1proteasome 26S subunit, ATPase 1 | Altid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Altid | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| RAI1retinoic acid induced 1 | Altid | I 2 tilstande |
| RPS28ribosomal protein S28 | Altid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Altid | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Altid | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Altid | I 2 tilstande |
| SF3B4splicing factor 3b subunit 4 | Altid | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Altid | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Altid | I 1 tilstand |
| SMAD2SMAD family member 2 | Altid | I 2 tilstande |
| SMAD4SMAD family member 4 | Altid | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Altid | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Altid | I 1 tilstand |
| SP7Sp7 transcription factor | Altid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Altid | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Altid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Altid | I 1 tilstand |
| ACANaggrecan | Meget ofte (80–99 %) | I 4 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Meget ofte (80–99 %) | I 2 tilstande |
| COX7Bcytochrome c oxidase subunit 7B | Meget ofte (80–99 %) | I 1 tilstand |
| CRTAPcartilage associated protein | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 3 tilstande |
| FLNBfilamin B | Meget ofte (80–99 %) | I 4 tilstande |
| FZD2frizzled class receptor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Meget ofte (80–99 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| LBRlamin B receptor | Meget ofte (80–99 %) | I 3 tilstande |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| MN1MN1 proto-oncogene, transcriptional regulator | Meget ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| NXNnucleoredoxin | Meget ofte (80–99 %) | I 2 tilstande |
| OBSL1obscurin like cytoskeletal adaptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Meget ofte (80–99 %) | I 2 tilstande |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| POLR1BRNA polymerase I subunit B | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Meget ofte (80–99 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Meget ofte (80–99 %) | I 3 tilstande |
| SONSON DNA and RNA binding protein | Meget ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Meget ofte (80–99 %) | I 2 tilstande |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Meget ofte (80–99 %) | I 2 tilstande |
| ZNHIT3zinc finger HIT-type containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Ofte (30–79 %) | I 2 tilstande |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CHD1chromodomain helicase DNA binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 6 tilstande |
| COL9A1collagen type IX alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 2 tilstande |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CTSKcathepsin K | Ofte (30–79 %) | I 1 tilstand |
| DHRS3dehydrogenase/reductase 3 | Ofte (30–79 %) | I 1 tilstand |
| DLX4distal-less homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 3 tilstande |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Ofte (30–79 %) | I 2 tilstande |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ofte (30–79 %) | I 1 tilstand |
| IL11RAinterleukin 11 receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Ofte (30–79 %) | I 2 tilstande |
| LEMD2LEM domain nuclear envelope protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LOXL3lysyl oxidase like 3 | Ofte (30–79 %) | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Ofte (30–79 %) | I 1 tilstand |
| NKAPNFKB activating protein | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 3 tilstande |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ofte (30–79 %) | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RMP64ribonuclease MRP subunit p64 | Ofte (30–79 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Ofte (30–79 %) | I 2 tilstande |
| RUNX2RUNX family transcription factor 2 | Ofte (30–79 %) | I 2 tilstande |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 2 tilstande |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 2 tilstande |
| ACTBactin beta | Nogle gange (5–29 %) | I 2 tilstande |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| ANKRD17ankyrin repeat domain 17 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COL1A1collagen type I alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| COL1A2collagen type I alpha 2 chain | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 2 tilstande |
| DDB1damage specific DNA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Nogle gange (5–29 %) | I 1 tilstand |
| FAM50Afamily with sequence similarity 50 member A | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| GDF11growth differentiation factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ITCHitchy E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 2 tilstande |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| MYSM1Myb like, SWIRM and MPN domains 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NGLY1N-glycanase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSMCE3NSE3 component of SMC5/6 complex | Nogle gange (5–29 %) | I 1 tilstand |
| PAK2p21 (RAC1) activated kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PKD2polycystin 2, transient receptor potential cation channel | Nogle gange (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM165transmembrane protein 165 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBGCP2tubulin gamma complex component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjældent (1–4%) | I 2 tilstande |
| HEPACAMhepatic and glial cell adhesion molecule | Sjældent (1–4%) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registreret | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Ikke registreret | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ikke registreret | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registreret | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ikke registreret | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ikke registreret | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CDH11cadherin 11 | Ikke registreret | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registreret | I 1 tilstand |
| CEP120centrosomal protein 120 | Ikke registreret | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Ikke registreret | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ikke registreret | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registreret | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registreret | I 2 tilstande |
| DSEdermatan sulfate epimerase | Ikke registreret | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Ikke registreret | I 1 tilstand |
| ELNelastin | Ikke registreret | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ikke registreret | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registreret | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ikke registreret | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registreret | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ikke registreret | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registreret | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registreret | I 1 tilstand |
| LMNAlamin A/C | Ikke registreret | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Ikke registreret | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ikke registreret | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registreret | I 1 tilstand |
| MESDmesoderm development LRP chaperone | Ikke registreret | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ikke registreret | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Ikke registreret | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ikke registreret | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registreret | I 1 tilstand |
| PTCH1patched 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Ikke registreret | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ikke registreret | I 1 tilstand |
| SATB2SATB homeobox 2 | Ikke registreret | I 1 tilstand |
| SERPINH1serpin family H member 1 | Ikke registreret | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ikke registreret | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registreret | I 1 tilstand |
| SOSTsclerostin | Ikke registreret | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registreret | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.17-8666dff2.
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