AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
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.
Santrauka
- Taip pat vadinama
- 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
- Kūno sistema
- Abnormality of head or neck
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/midface-retrusion.json"
page <- fromJSON(url)
page$trait$nameMidface retrusionHP:0011800
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Midface retrusion, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test310 genų susiję su Midface retrusion
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Midface retrusion. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Visada | 2 ligose |
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ATRXATRX chromatin remodeler | Visada | 3 ligose |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 3 ligose |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Visada | 1 ligoje |
| BANF1barrier to autointegration nuclear assembly factor 1 | Visada | 1 ligoje |
| BUD13BUD13 spliceosome associated protein | Visada | 1 ligoje |
| CDC42cell division cycle 42 | Visada | 2 ligose |
| CHST3carbohydrate sulfotransferase 3 | Visada | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Visada | 3 ligose |
| COL11A2collagen type XI alpha 2 chain | Visada | 4 ligose |
| COL27A1collagen type XXVII alpha 1 chain | Visada | 1 ligoje |
| COL9A2collagen type IX alpha 2 chain | Visada | 3 ligose |
| COX15cytochrome c oxidase assembly factor COX15 | Visada | 1 ligoje |
| CUL7cullin 7 | Visada | 2 ligose |
| DVL1dishevelled segment polarity protein 1 | Visada | 3 ligose |
| DVL3dishevelled segment polarity protein 3 | Visada | 2 ligose |
| FGFR2fibroblast growth factor receptor 2 | Visada | 14 ligose |
| FGFR3fibroblast growth factor receptor 3 | Visada | 6 ligose |
| GGCXgamma-glutamyl carboxylase | Visada | 1 ligoje |
| GNPATglyceronephosphate O-acyltransferase | Visada | 1 ligoje |
| HOXB1homeobox B1 | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IFT52intraflagellar transport 52 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| IREB2iron responsive element binding protein 2 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KDM6Alysine demethylase 6A | Visada | 1 ligoje |
| KIF22kinesin family member 22 | Visada | 2 ligose |
| KMT2Dlysine methyltransferase 2D | Visada | 2 ligose |
| LINS1lines homolog 1 | Visada | 1 ligoje |
| MAD1L1mitotic arrest deficient 1 like 1 | Visada | 1 ligoje |
| MAFMAF bZIP transcription factor | Visada | 1 ligoje |
| MGPmatrix Gla protein | Visada | 2 ligose |
| MIR140microRNA 140 | Visada | 1 ligoje |
| MRPS14mitochondrial ribosomal protein S14 | Visada | 1 ligoje |
| NBNnibrin | Visada | 1 ligoje |
| P4HBprolyl 4-hydroxylase subunit beta | Visada | 2 ligose |
Rodyti dar 270 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Visada | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Visada | 2 ligose |
| PSMC1proteasome 26S subunit, ATPase 1 | Visada | 1 ligoje |
| PTH1Rparathyroid hormone 1 receptor | Visada | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Visada | 1 ligoje |
| RAC3Rac family small GTPase 3 | Visada | 1 ligoje |
| RAI1retinoic acid induced 1 | Visada | 2 ligose |
| RPS28ribosomal protein S28 | Visada | 1 ligoje |
| RYR1ryanodine receptor 1 | Visada | 1 ligoje |
| SEC23ASEC23 homolog A, COPII component | Visada | 1 ligoje |
| SEC24DSEC24 homolog D, COPII component | Visada | 2 ligose |
| SF3B4splicing factor 3b subunit 4 | Visada | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Visada | 1 ligoje |
| SLC35D1solute carrier family 35 member D1 | Visada | 1 ligoje |
| SMAD2SMAD family member 2 | Visada | 2 ligose |
| SMAD4SMAD family member 4 | Visada | 2 ligose |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Visada | 1 ligoje |
| SP7Sp7 transcription factor | Visada | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Visada | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Visada | 1 ligoje |
| ZNF407zinc finger protein 407 | Visada | 1 ligoje |
| ACANaggrecan | Labai dažnai (80–99%) | 4 ligose |
| ANTXR1ANTXR cell adhesion molecule 1 | Labai dažnai (80–99%) | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| CBLCbl proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Labai dažnai (80–99%) | 2 ligose |
| COX7Bcytochrome c oxidase subunit 7B | Labai dažnai (80–99%) | 1 ligoje |
| CRTAPcartilage associated protein | Labai dažnai (80–99%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 3 ligose |
| FLNBfilamin B | Labai dažnai (80–99%) | 4 ligose |
| FZD2frizzled class receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| HCCSholocytochrome c synthase | Labai dažnai (80–99%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Labai dažnai (80–99%) | 2 ligose |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| LBRlamin B receptor | Labai dažnai (80–99%) | 3 ligose |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Labai dažnai (80–99%) | 2 ligose |
| MMP23Bmatrix metallopeptidase 23B | Labai dažnai (80–99%) | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Labai dažnai (80–99%) | 1 ligoje |
| MRASmuscle RAS oncogene homolog | Labai dažnai (80–99%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 1 ligoje |
| NFIXnuclear factor I X | Labai dažnai (80–99%) | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| NXNnucleoredoxin | Labai dažnai (80–99%) | 2 ligose |
| OBSL1obscurin like cytoskeletal adaptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| PDE4Dphosphodiesterase 4D | Labai dažnai (80–99%) | 2 ligose |
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| POLR1BRNA polymerase I subunit B | Labai dažnai (80–99%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Labai dažnai (80–99%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Labai dažnai (80–99%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Labai dažnai (80–99%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| RASA2RAS p21 protein activator 2 | Labai dažnai (80–99%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 1 ligoje |
| RIT1Ras like without CAAX 1 | Labai dažnai (80–99%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Labai dažnai (80–99%) | 2 ligose |
| RRASRAS related | Labai dažnai (80–99%) | 1 ligoje |
| RRAS2RAS related 2 | Labai dažnai (80–99%) | 1 ligoje |
| SETBP1SET binding protein 1 | Labai dažnai (80–99%) | 2 ligose |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Labai dažnai (80–99%) | 3 ligose |
| SONSON DNA and RNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 1 ligoje |
| SPRED2sprouty related EVH1 domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TMCO1transmembrane and coiled-coil domains 1 | Labai dažnai (80–99%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Labai dažnai (80–99%) | 2 ligose |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Labai dažnai (80–99%) | 1 ligoje |
| WNT5AWnt family member 5A | Labai dažnai (80–99%) | 2 ligose |
| ZNHIT3zinc finger HIT-type containing 3 | Labai dažnai (80–99%) | 1 ligoje |
| ACP5acid phosphatase 5, tartrate resistant | Dažnai (30–79%) | 2 ligose |
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| CCDC47coiled-coil domain containing 47 | Dažnai (30–79%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Dažnai (30–79%) | 1 ligoje |
| CHD1chromodomain helicase DNA binding protein 1 | Dažnai (30–79%) | 2 ligose |
| COL2A1collagen type II alpha 1 chain | Dažnai (30–79%) | 6 ligose |
| COL9A1collagen type IX alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL9A3collagen type IX alpha 3 chain | Dažnai (30–79%) | 2 ligose |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| CTSKcathepsin K | Dažnai (30–79%) | 1 ligoje |
| DHRS3dehydrogenase/reductase 3 | Dažnai (30–79%) | 1 ligoje |
| DLX4distal-less homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Dažnai (30–79%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 2 ligose |
| EHMT1euchromatic histone lysine methyltransferase 1 | Dažnai (30–79%) | 3 ligose |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Dažnai (30–79%) | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Dažnai (30–79%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FOXC1forkhead box C1 | Dažnai (30–79%) | 2 ligose |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Dažnai (30–79%) | 1 ligoje |
| IFT81intraflagellar transport 81 | Dažnai (30–79%) | 1 ligoje |
| IL11RAinterleukin 11 receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KMT2Clysine methyltransferase 2C | Dažnai (30–79%) | 2 ligose |
| LEMD2LEM domain nuclear envelope protein 2 | Dažnai (30–79%) | 1 ligoje |
| LIFRLIF receptor subunit alpha | Dažnai (30–79%) | 1 ligoje |
| LOXL3lysyl oxidase like 3 | Dažnai (30–79%) | 1 ligoje |
| LRRC32leucine rich repeat containing 32 | Dažnai (30–79%) | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Dažnai (30–79%) | 1 ligoje |
| NECTIN1nectin cell adhesion molecule 1 | Dažnai (30–79%) | 1 ligoje |
| NKAPNFKB activating protein | Dažnai (30–79%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Dažnai (30–79%) | 1 ligoje |
| PITX2paired like homeodomain 2 | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 2 ligose |
| POLR1ARNA polymerase I subunit A | Dažnai (30–79%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Dažnai (30–79%) | 3 ligose |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Dažnai (30–79%) | 2 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Dažnai (30–79%) | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RMP64ribonuclease MRP subunit p64 | Dažnai (30–79%) | 1 ligoje |
| RNF13ring finger protein 13 | Dažnai (30–79%) | 2 ligose |
| RUNX2RUNX family transcription factor 2 | Dažnai (30–79%) | 2 ligose |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| SOX11SRY-box transcription factor 11 | Dažnai (30–79%) | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TLK2tousled like kinase 2 | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 2 ligose |
| UBE2Aubiquitin conjugating enzyme E2 A | Dažnai (30–79%) | 2 ligose |
| WASF1WASP family member 1 | Dažnai (30–79%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Dažnai (30–79%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Dažnai (30–79%) | 2 ligose |
| ACTBactin beta | Kartais (5–29%) | 2 ligose |
| ADNPactivity dependent neuroprotector homeobox | Kartais (5–29%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 2 ligose |
| ANKRD17ankyrin repeat domain 17 | Kartais (5–29%) | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Kartais (5–29%) | 1 ligoje |
| BRF1BRF1 general transcription factor IIIB subunit | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CLCN3Cl-/H+ antiporter 3 | Kartais (5–29%) | 1 ligoje |
| COL18A1collagen type XVIII alpha 1 chain | Kartais (5–29%) | 2 ligose |
| COL1A1collagen type I alpha 1 chain | Kartais (5–29%) | 2 ligose |
| COL1A2collagen type I alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 2 ligose |
| DDB1damage specific DNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| ERFETS2 repressor factor | Kartais (5–29%) | 1 ligoje |
| FAM50Afamily with sequence similarity 50 member A | Kartais (5–29%) | 1 ligoje |
| FBN1fibrillin 1 | Kartais (5–29%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Kartais (5–29%) | 2 ligose |
| GDF11growth differentiation factor 11 | Kartais (5–29%) | 1 ligoje |
| GHRgrowth hormone receptor | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 2 ligose |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Kartais (5–29%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| H3-3BH3.3 histone B | Kartais (5–29%) | 1 ligoje |
| HESX1HESX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Kartais (5–29%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 2 ligose |
| ITCHitchy E3 ubiquitin protein ligase | Kartais (5–29%) | 2 ligose |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KIF15kinesin family member 15 | Kartais (5–29%) | 1 ligoje |
| KLHL20kelch like family member 20 | Kartais (5–29%) | 1 ligoje |
| LHX3LIM homeobox 3 | Kartais (5–29%) | 1 ligoje |
| LHX4LIM homeobox 4 | Kartais (5–29%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MIPEPmitochondrial intermediate peptidase | Kartais (5–29%) | 1 ligoje |
| MYSM1Myb like, SWIRM and MPN domains 1 | Kartais (5–29%) | 2 ligose |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| NSMCE3NSE3 component of SMC5/6 complex | Kartais (5–29%) | 1 ligoje |
| PAK2p21 (RAC1) activated kinase 2 | Kartais (5–29%) | 1 ligoje |
| PKD2polycystin 2, transient receptor potential cation channel | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Kartais (5–29%) | 2 ligose |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Kartais (5–29%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SH2B1SH2B adaptor protein 1 | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| TCF12transcription factor 12 | Kartais (5–29%) | 1 ligoje |
| TMEM165transmembrane protein 165 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Kartais (5–29%) | 1 ligoje |
| TUBGCP2tubulin gamma complex component 2 | Kartais (5–29%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| WDR26WD repeat domain 26 | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZIC1Zic family zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CLCN4Cl-/H+ antiporter 4 | Retai (1–4 %) | 2 ligose |
| HEPACAMhepatic and glial cell adhesion molecule | Retai (1–4 %) | 1 ligoje |
| MSL2MSL complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Neužfiksuota | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Neužfiksuota | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Neužfiksuota | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Neužfiksuota | 1 ligoje |
| B4GALT7beta-1,4-galactosyltransferase 7 | Neužfiksuota | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Neužfiksuota | 1 ligoje |
| BMP4bone morphogenetic protein 4 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| CANT1calcium activated nucleotidase 1 | Neužfiksuota | 1 ligoje |
| CDH11cadherin 11 | Neužfiksuota | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Neužfiksuota | 1 ligoje |
| CEP120centrosomal protein 120 | Neužfiksuota | 1 ligoje |
| CHD3chromodomain helicase DNA binding protein 3 | Neužfiksuota | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| DDR2discoidin domain receptor tyrosine kinase 2 | Neužfiksuota | 2 ligose |
| DSEdermatan sulfate epimerase | Neužfiksuota | 1 ligoje |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Neužfiksuota | 1 ligoje |
| ELNelastin | Neužfiksuota | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Neužfiksuota | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Neužfiksuota | 1 ligoje |
| FLNAfilamin A | Neužfiksuota | 1 ligoje |
| FOXG1forkhead box G1 | Neužfiksuota | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Neužfiksuota | 1 ligoje |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Neužfiksuota | 1 ligoje |
| HSPA9heat shock protein family A (Hsp70) member 9 | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Neužfiksuota | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Neužfiksuota | 1 ligoje |
| LMNAlamin A/C | Neužfiksuota | 1 ligoje |
| LRP2LDL receptor related protein 2 | Neužfiksuota | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Neužfiksuota | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Neužfiksuota | 1 ligoje |
| MESDmesoderm development LRP chaperone | Neužfiksuota | 1 ligoje |
| MLXIPLMLX interacting protein like | Neužfiksuota | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Neužfiksuota | 1 ligoje |
| NF1neurofibromin 1 | Neužfiksuota | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Neužfiksuota | 1 ligoje |
| PDGFRBplatelet derived growth factor receptor beta | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Neužfiksuota | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Neužfiksuota | 1 ligoje |
| PTCH1patched 1 | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Neužfiksuota | 1 ligoje |
| RNU12RNA, U12 small nuclear | Neužfiksuota | 1 ligoje |
| SATB2SATB homeobox 2 | Neužfiksuota | 1 ligoje |
| SERPINH1serpin family H member 1 | Neužfiksuota | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Neužfiksuota | 1 ligoje |
| SLC6A8solute carrier family 6 member 8 | Neužfiksuota | 1 ligoje |
| SOSTsclerostin | Neužfiksuota | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Neužfiksuota | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| WACWW domain containing adaptor with coiled-coil | Neužfiksuota | 1 ligoje |
| WDR35WD repeat domain 35 | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 1 ligoje |
| ZMIZ1zinc finger MIZ-type containing 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.17-8666dff2.
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