Požymis
More grooves in brain
Klinikinis pavadinimas: Polymicrogyria
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to More grooves in brain, and the rest of your genome, with one test.
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Įsigyti savo Genome Test171 genas susijęs su More grooves in brain
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia More grooves in brain. 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 |
|---|---|---|
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Visada | 1 ligoje |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Visada | 1 ligoje |
| CCND2cyclin D2 | Visada | 2 ligose |
| COL4A2collagen type IV alpha 2 chain | Visada | 1 ligoje |
| DAG1dystroglycan 1 | Visada | 3 ligose |
| EML1EMAP like 1 | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Visada | 1 ligoje |
| GPHNgephyrin | Visada | 1 ligoje |
| GPSM2G protein signaling modulator 2 | Visada | 2 ligose |
| IBA57iron-sulfur cluster assembly factor IBA57 | Visada | 2 ligose |
| KIF5Ckinesin family member 5C | Visada | 1 ligoje |
| KLHL15kelch like family member 15 | Visada | 1 ligoje |
| LAMC3laminin subunit gamma 3 | Visada | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Visada | 2 ligose |
| PEX14peroxisomal biogenesis factor 14 | Visada | 2 ligose |
| PEX26peroxisomal biogenesis factor 26 | Visada | 2 ligose |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Visada | 2 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| SLC5A6solute carrier family 5 member 6 | Visada | 1 ligoje |
| SNAP29synaptosome associated protein 29 | Visada | 2 ligose |
| SNAPINSNAP associated protein | Visada | 1 ligoje |
| TCTN2tectonic family member 2 | Visada | 2 ligose |
| TUBB2Btubulin beta 2B class IIb | Visada | 3 ligose |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 1 ligoje |
| ACTG1actin gamma 1 | Labai dažnai (80–99%) | 1 ligoje |
| AKT3AKT serine/threonine kinase 3 | Labai dažnai (80–99%) | 3 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Labai dažnai (80–99%) | 2 ligose |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| COL4A1collagen type IV alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Labai dažnai (80–99%) | 2 ligose |
| ERMARDER membrane associated RNA degradation | Labai dažnai (80–99%) | 1 ligoje |
| FKRPfukutin related protein | Labai dažnai (80–99%) | 3 ligose |
| FKTNfukutin | Labai dažnai (80–99%) | 3 ligose |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Labai dažnai (80–99%) | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 3 ligose |
Rodyti dar 131 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Labai dažnai (80–99%) | 1 ligoje |
| POMKprotein O-mannose kinase | Labai dažnai (80–99%) | 2 ligose |
| POMT1protein O-mannosyltransferase 1 | Labai dažnai (80–99%) | 3 ligose |
| POMT2protein O-mannosyltransferase 2 | Labai dažnai (80–99%) | 3 ligose |
| PTENphosphatase and tensin homolog | Labai dažnai (80–99%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| TCP1t-complex 1 | Labai dažnai (80–99%) | 1 ligoje |
| TUBA8tubulin alpha 8 | Labai dažnai (80–99%) | 1 ligoje |
| ATN1atrophin 1 | Dažnai (30–79%) | 1 ligoje |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Dažnai (30–79%) | 2 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| COL18A1collagen type XVIII alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Dažnai (30–79%) | 2 ligose |
| DHX37DEAH-box helicase 37 | Dažnai (30–79%) | 1 ligoje |
| EOMESeomesodermin | Dažnai (30–79%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 1 ligoje |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Dažnai (30–79%) | 1 ligoje |
| KIAA0586KIAA0586 | Dažnai (30–79%) | 2 ligose |
| KIF26Akinesin family member 26A | Dažnai (30–79%) | 1 ligoje |
| KIFBPkinesin family binding protein | Dažnai (30–79%) | 1 ligoje |
| LAGE3L antigen family member 3 | Dažnai (30–79%) | 1 ligoje |
| MAN2C1mannosidase alpha class 2C member 1 | Dažnai (30–79%) | 1 ligoje |
| MAP1Bmicrotubule associated protein 1B | Dažnai (30–79%) | 1 ligoje |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Dažnai (30–79%) | 1 ligoje |
| MN1MN1 proto-oncogene, transcriptional regulator | Dažnai (30–79%) | 1 ligoje |
| MSL2MSL complex subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MTORmechanistic target of rapamycin kinase | Dažnai (30–79%) | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Dažnai (30–79%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Dažnai (30–79%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Dažnai (30–79%) | 2 ligose |
| PEX16peroxisomal biogenesis factor 16 | Dažnai (30–79%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Dažnai (30–79%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Dažnai (30–79%) | 2 ligose |
| PEX3peroxisomal biogenesis factor 3 | Dažnai (30–79%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Dažnai (30–79%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Dažnai (30–79%) | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Dažnai (30–79%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Dažnai (30–79%) | 4 ligose |
| RAB18RAB18, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| ROBO1roundabout guidance receptor 1 | Dažnai (30–79%) | 1 ligoje |
| RRAGCRas related GTP binding C | Dažnai (30–79%) | 1 ligoje |
| RTTNrotatin | Dažnai (30–79%) | 2 ligose |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Dažnai (30–79%) | 2 ligose |
| SUFUSUFU negative regulator of hedgehog signaling | Dažnai (30–79%) | 2 ligose |
| TMX2thioredoxin related transmembrane protein 2 | Dažnai (30–79%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Dažnai (30–79%) | 1 ligoje |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Dažnai (30–79%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Dažnai (30–79%) | 2 ligose |
| AHI1Abelson helper integration site 1 | Kartais (5–29%) | 2 ligose |
| ARL13BARF like GTPase 13B | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| B9D1B9 domain containing 1 | Kartais (5–29%) | 1 ligoje |
| B9D2B9 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| CBY1chibby 1, beta catenin antagonist | Kartais (5–29%) | 1 ligoje |
| CEP104centrosomal protein 104 | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 2 ligose |
| CEP41centrosomal protein 41 | Kartais (5–29%) | 2 ligose |
| COL25A1collagen type XXV alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Kartais (5–29%) | 2 ligose |
| CPT2carnitine palmitoyltransferase 2 | Kartais (5–29%) | 2 ligose |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CUL4Bcullin 4B | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Kartais (5–29%) | 1 ligoje |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Kartais (5–29%) | 1 ligoje |
| FBXO28F-box protein 28 | Kartais (5–29%) | 1 ligoje |
| FLVCR2FLVCR choline and putative heme transporter 2 | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 2 ligose |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Kartais (5–29%) | 2 ligose |
| KATNIPkatanin interacting protein | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| KIF21Akinesin family member 21A | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 2 ligose |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 2 ligose |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| PDE6Dphosphodiesterase 6D | Kartais (5–29%) | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| PHOX2Apaired like homeobox 2A | Kartais (5–29%) | 1 ligoje |
| PIBF1progesterone immunomodulatory binding factor 1 | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| RAC1Rac family small GTPase 1 | Kartais (5–29%) | 2 ligose |
| RPGRIP1LRPGRIP1 like | Kartais (5–29%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Kartais (5–29%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Kartais (5–29%) | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Kartais (5–29%) | 1 ligoje |
| TCTN1tectonic family member 1 | Kartais (5–29%) | 1 ligoje |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 1 ligoje |
| TMEM218transmembrane protein 218 | Kartais (5–29%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Kartais (5–29%) | 2 ligose |
| TMEM67transmembrane protein 67 | Kartais (5–29%) | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TUBA1Atubulin alpha 1a | Kartais (5–29%) | 3 ligose |
| VPS4Avacuolar protein sorting 4 homolog A | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Retai (1–4 %) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Retai (1–4 %) | 1 ligoje |
| NPRL2NPR2 like, GATOR1 complex subunit | Retai (1–4 %) | 1 ligoje |
| NPRL3NPR3 like, GATOR1 complex subunit | Retai (1–4 %) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Retai (1–4 %) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Retai (1–4 %) | 2 ligose |
| ARHGAP31Rho GTPase activating protein 31 | Neužfiksuota | 1 ligoje |
| BMPERBMP binding endothelial regulator | Neužfiksuota | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Neužfiksuota | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Neužfiksuota | 1 ligoje |
| FHfumarate hydratase | Neužfiksuota | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Neužfiksuota | 1 ligoje |
| OCLNoccludin | Neužfiksuota | 1 ligoje |
| PAX6paired box 6 | Neužfiksuota | 1 ligoje |
| RECQL4RecQ like helicase 4 | Neužfiksuota | 1 ligoje |
| SF3B4splicing factor 3b subunit 4 | Neužfiksuota | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| TUFMTu translation elongation factor, mitochondrial | Neužfiksuota | 1 ligoje |
| USP18ubiquitin specific peptidase 18 | Neužfiksuota | 1 ligoje |
| WDR62WD repeat domain 62 | Neužfiksuota | 1 ligoje |
| WT1WT1 transcription factor | Neužfiksuota | 1 ligoje |
| ZNHIT3zinc finger HIT-type containing 3 | 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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