AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnus
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.
Kokkuvõte
- Teised nimetused
- 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
- 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/midface-retrusion.json"
page <- fromJSON(url)
page$trait$nameMidface retrusionHP:0011800
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Midface retrusion-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test310 geeni on seotud tunnusega Midface retrusion
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Midface retrusion. 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alati | Esineb 2 haiguses |
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Alati | Esineb 3 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alati | Esineb 3 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Alati | Esineb 1 haiguses |
| BANF1barrier to autointegration nuclear assembly factor 1 | Alati | Esineb 1 haiguses |
| BUD13BUD13 spliceosome associated protein | Alati | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Alati | Esineb 2 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Alati | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Alati | Esineb 3 haiguses |
| COL11A2collagen type XI alpha 2 chain | Alati | Esineb 4 haiguses |
| COL27A1collagen type XXVII alpha 1 chain | Alati | Esineb 1 haiguses |
| COL9A2collagen type IX alpha 2 chain | Alati | Esineb 3 haiguses |
| COX15cytochrome c oxidase assembly factor COX15 | Alati | Esineb 1 haiguses |
| CUL7cullin 7 | Alati | Esineb 2 haiguses |
| DVL1dishevelled segment polarity protein 1 | Alati | Esineb 3 haiguses |
| DVL3dishevelled segment polarity protein 3 | Alati | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Alati | Esineb 14 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Alati | Esineb 6 haiguses |
| GGCXgamma-glutamyl carboxylase | Alati | Esineb 1 haiguses |
| GNPATglyceronephosphate O-acyltransferase | Alati | Esineb 1 haiguses |
| HOXB1homeobox B1 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| IFT52intraflagellar transport 52 | Alati | Esineb 1 haiguses |
| IKZF2IKAROS family zinc finger 2 | Alati | Esineb 1 haiguses |
| IREB2iron responsive element binding protein 2 | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Alati | Esineb 1 haiguses |
| KIF22kinesin family member 22 | Alati | Esineb 2 haiguses |
| KMT2Dlysine methyltransferase 2D | Alati | Esineb 2 haiguses |
| LINS1lines homolog 1 | Alati | Esineb 1 haiguses |
| MAD1L1mitotic arrest deficient 1 like 1 | Alati | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Alati | Esineb 1 haiguses |
| MGPmatrix Gla protein | Alati | Esineb 2 haiguses |
| MIR140microRNA 140 | Alati | Esineb 1 haiguses |
| MRPS14mitochondrial ribosomal protein S14 | Alati | Esineb 1 haiguses |
| NBNnibrin | Alati | Esineb 1 haiguses |
| P4HBprolyl 4-hydroxylase subunit beta | Alati | Esineb 2 haiguses |
Näita veel 270 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alati | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alati | Esineb 2 haiguses |
| PSMC1proteasome 26S subunit, ATPase 1 | Alati | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Alati | Esineb 1 haiguses |
| PTRH2peptidyl-tRNA hydrolase 2 | Alati | Esineb 1 haiguses |
| RAC3Rac family small GTPase 3 | Alati | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Alati | Esineb 2 haiguses |
| RPS28ribosomal protein S28 | Alati | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Alati | Esineb 1 haiguses |
| SEC23ASEC23 homolog A, COPII component | Alati | Esineb 1 haiguses |
| SEC24DSEC24 homolog D, COPII component | Alati | Esineb 2 haiguses |
| SF3B4splicing factor 3b subunit 4 | Alati | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Alati | Esineb 1 haiguses |
| SLC35D1solute carrier family 35 member D1 | Alati | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Alati | Esineb 2 haiguses |
| SMAD4SMAD family member 4 | Alati | Esineb 2 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Alati | Esineb 1 haiguses |
| SP7Sp7 transcription factor | Alati | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Alati | Esineb 1 haiguses |
| TSR2TSR2 ribosome maturation factor | Alati | Esineb 1 haiguses |
| ZNF407zinc finger protein 407 | Alati | Esineb 1 haiguses |
| ACANaggrecan | Väga sageli (80–99%) | Esineb 4 haiguses |
| ANTXR1ANTXR cell adhesion molecule 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CBLCbl proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Väga sageli (80–99%) | Esineb 2 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRTAPcartilage associated protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FLNBfilamin B | Väga sageli (80–99%) | Esineb 4 haiguses |
| FZD2frizzled class receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Väga sageli (80–99%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| LBRlamin B receptor | Väga sageli (80–99%) | Esineb 3 haiguses |
| LUZP1leucine zipper protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Väga sageli (80–99%) | Esineb 1 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Väga sageli (80–99%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NFIXnuclear factor I X | Väga sageli (80–99%) | Esineb 2 haiguses |
| NRASNRAS proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Väga sageli (80–99%) | Esineb 2 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Väga sageli (80–99%) | Esineb 2 haiguses |
| PDPNpodoplanin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Väga sageli (80–99%) | Esineb 2 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 |
| PRDM16PR/SET domain 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRKCZprotein kinase C zeta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RASA2RAS p21 protein activator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RRASRAS related | Väga sageli (80–99%) | Esineb 1 haiguses |
| RRAS2RAS related 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SKISKI proto-oncogene | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SONSON DNA and RNA binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| UBE4Bubiquitination factor E4B | Väga sageli (80–99%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACP5acid phosphatase 5, tartrate resistant | Sageli (30–79%) | Esineb 2 haiguses |
| BCL11ABCL11 transcription factor A | Sageli (30–79%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Sageli (30–79%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CHD1chromodomain helicase DNA binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Sageli (30–79%) | Esineb 6 haiguses |
| COL9A1collagen type IX alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL9A3collagen type IX alpha 3 chain | Sageli (30–79%) | Esineb 2 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTSKcathepsin K | Sageli (30–79%) | Esineb 1 haiguses |
| DHRS3dehydrogenase/reductase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| DLX4distal-less homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DPH5diphthamide biosynthesis 5 | Sageli (30–79%) | Esineb 1 haiguses |
| EBPEBP cholestenol delta-isomerase | Sageli (30–79%) | Esineb 2 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sageli (30–79%) | Esineb 3 haiguses |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FOXC1forkhead box C1 | Sageli (30–79%) | Esineb 2 haiguses |
| GPC4glypican 4 | Sageli (30–79%) | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT81intraflagellar transport 81 | Sageli (30–79%) | Esineb 1 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Clysine methyltransferase 2C | Sageli (30–79%) | Esineb 2 haiguses |
| LEMD2LEM domain nuclear envelope protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LIFRLIF receptor subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| LOXL3lysyl oxidase like 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LRRC32leucine rich repeat containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Sageli (30–79%) | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NKAPNFKB activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD5OTU deubiquitinase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POLR1ARNA polymerase I subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Sageli (30–79%) | Esineb 3 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PRR12proline rich 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Sageli (30–79%) | Esineb 2 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RMP64ribonuclease MRP subunit p64 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Sageli (30–79%) | Esineb 2 haiguses |
| RUNX2RUNX family transcription factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D32TBC1 domain family member 32 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX1T-box transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TLK2tousled like kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Sageli (30–79%) | Esineb 2 haiguses |
| WASF1WASP family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| YME1L1YME1 like 1 ATPase | Sageli (30–79%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Sageli (30–79%) | Esineb 2 haiguses |
| ACTBactin beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ANKRD17ankyrin repeat domain 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRF1BRF1 general transcription factor IIIB subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL1A1collagen type I alpha 1 chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL1A2collagen type I alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| DDB1damage specific DNA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX37DEAH-box helicase 37 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERFETS2 repressor factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM50Afamily with sequence similarity 50 member A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FIBPFGF1 intracellular binding protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| GDF11growth differentiation factor 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GHRgrowth hormone receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H19H19 imprinted maternally expressed transcript | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 2 haiguses |
| JARID2jumonji and AT-rich interaction domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LTBP4latent transforming growth factor beta binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MIPEPmitochondrial intermediate peptidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYSM1Myb like, SWIRM and MPN domains 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NGLY1N-glycanase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSMCE3NSE3 component of SMC5/6 complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAK2p21 (RAC1) activated kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PKD2polycystin 2, transient receptor potential cation channel | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLP1proteolipid protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SH2B1SH2B adaptor protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC9A7solute carrier family 9 member A7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF12transcription factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM165transmembrane protein 165 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBGCP2tubulin gamma complex component 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZIC1Zic family zinc finger 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN4Cl-/H+ antiporter 4 | Harva (1–4%) | Esineb 2 haiguses |
| HEPACAMhepatic and glial cell adhesion molecule | Harva (1–4%) | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Pole registreeritud | Esineb 1 haiguses |
| AMMECR1AMMECR nuclear protein 1 | Pole registreeritud | Esineb 1 haiguses |
| AMPD2adenosine monophosphate deaminase 2 | Pole registreeritud | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Pole registreeritud | Esineb 1 haiguses |
| B4GALT7beta-1,4-galactosyltransferase 7 | Pole registreeritud | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Pole registreeritud | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Pole registreeritud | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Pole registreeritud | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Pole registreeritud | Esineb 1 haiguses |
| CDH11cadherin 11 | Pole registreeritud | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Pole registreeritud | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Pole registreeritud | Esineb 1 haiguses |
| CHD3chromodomain helicase DNA binding protein 3 | Pole registreeritud | Esineb 1 haiguses |
| COG1component of oligomeric golgi complex 1 | Pole registreeritud | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Pole registreeritud | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Pole registreeritud | Esineb 2 haiguses |
| DSEdermatan sulfate epimerase | Pole registreeritud | Esineb 1 haiguses |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| ELNelastin | Pole registreeritud | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Pole registreeritud | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Pole registreeritud | Esineb 1 haiguses |
| FLNAfilamin A | Pole registreeritud | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Pole registreeritud | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Pole registreeritud | Esineb 1 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| HSPA9heat shock protein family A (Hsp70) member 9 | Pole registreeritud | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Pole registreeritud | Esineb 1 haiguses |
| LMNAlamin A/C | Pole registreeritud | Esineb 1 haiguses |
| LRP2LDL receptor related protein 2 | Pole registreeritud | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Pole registreeritud | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Pole registreeritud | Esineb 1 haiguses |
| MESDmesoderm development LRP chaperone | Pole registreeritud | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Pole registreeritud | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Pole registreeritud | Esineb 1 haiguses |
| NF1neurofibromin 1 | Pole registreeritud | Esineb 1 haiguses |
| OSGEPO-sialoglycoprotein endopeptidase | Pole registreeritud | Esineb 1 haiguses |
| PDGFRBplatelet derived growth factor receptor beta | Pole registreeritud | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Pole registreeritud | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Pole registreeritud | Esineb 1 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Pole registreeritud | Esineb 1 haiguses |
| PTCH1patched 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Pole registreeritud | Esineb 1 haiguses |
| RNU12RNA, U12 small nuclear | Pole registreeritud | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| SERPINH1serpin family H member 1 | Pole registreeritud | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Pole registreeritud | Esineb 1 haiguses |
| SLC6A8solute carrier family 6 member 8 | Pole registreeritud | Esineb 1 haiguses |
| SOSTsclerostin | Pole registreeritud | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Pole registreeritud | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Pole registreeritud | Esineb 1 haiguses |
| TCF20transcription factor 20 | Pole registreeritud | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Pole registreeritud | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Pole registreeritud | Esineb 1 haiguses |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
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 2026.10.16-c6eea6bf.
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