Tunnus
More grooves in brain
Kliiniline nimetus: Polymicrogyria
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to More grooves in brain, and the rest of your genome, with one test.
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Telli oma Genome Test171 geeni on seotud tunnusega More grooves in brain
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb More grooves in brain. 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 |
|---|---|---|
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Alati | Esineb 1 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| CCND2cyclin D2 | Alati | Esineb 2 haiguses |
| COL4A2collagen type IV alpha 2 chain | Alati | Esineb 1 haiguses |
| DAG1dystroglycan 1 | Alati | Esineb 3 haiguses |
| EML1EMAP like 1 | Alati | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alati | Esineb 1 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| FBXL4F-box and leucine rich repeat protein 4 | Alati | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alati | Esineb 1 haiguses |
| GPHNgephyrin | Alati | Esineb 1 haiguses |
| GPSM2G protein signaling modulator 2 | Alati | Esineb 2 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Alati | Esineb 2 haiguses |
| KIF5Ckinesin family member 5C | Alati | Esineb 1 haiguses |
| KLHL15kelch like family member 15 | Alati | Esineb 1 haiguses |
| LAMC3laminin subunit gamma 3 | Alati | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Alati | Esineb 2 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Alati | Esineb 2 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Alati | Esineb 2 haiguses |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Alati | Esineb 2 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 1 haiguses |
| SLC5A6solute carrier family 5 member 6 | Alati | Esineb 1 haiguses |
| SNAP29synaptosome associated protein 29 | Alati | Esineb 2 haiguses |
| SNAPINSNAP associated protein | Alati | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Alati | Esineb 2 haiguses |
| TUBB2Btubulin beta 2B class IIb | Alati | Esineb 3 haiguses |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Alati | Esineb 1 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AKT3AKT serine/threonine kinase 3 | Väga sageli (80–99%) | Esineb 3 haiguses |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL4A1collagen type IV alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Väga sageli (80–99%) | Esineb 2 haiguses |
| ERMARDER membrane associated RNA degradation | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKRPfukutin related protein | Väga sageli (80–99%) | Esineb 3 haiguses |
| FKTNfukutin | Väga sageli (80–99%) | Esineb 3 haiguses |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 3 haiguses |
Näita veel 131 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| POMT1protein O-mannosyltransferase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| POMT2protein O-mannosyltransferase 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PTENphosphatase and tensin homolog | Väga sageli (80–99%) | Esineb 1 haiguses |
| RXYLT1ribitol xylosyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCP1t-complex 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBA8tubulin alpha 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Sageli (30–79%) | Esineb 2 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL18A1collagen type XVIII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sageli (30–79%) | Esineb 2 haiguses |
| DHX37DEAH-box helicase 37 | Sageli (30–79%) | Esineb 1 haiguses |
| EOMESeomesodermin | Sageli (30–79%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Sageli (30–79%) | Esineb 1 haiguses |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| KIAA0586KIAA0586 | Sageli (30–79%) | Esineb 2 haiguses |
| KIF26Akinesin family member 26A | Sageli (30–79%) | Esineb 1 haiguses |
| KIFBPkinesin family binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| LAGE3L antigen family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MAN2C1mannosidase alpha class 2C member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAP1Bmicrotubule associated protein 1B | Sageli (30–79%) | Esineb 1 haiguses |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Sageli (30–79%) | Esineb 1 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Sageli (30–79%) | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Sageli (30–79%) | Esineb 2 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sageli (30–79%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Sageli (30–79%) | Esineb 2 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 4 haiguses |
| RAB18RAB18, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Sageli (30–79%) | Esineb 1 haiguses |
| ROBO1roundabout guidance receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RRAGCRas related GTP binding C | Sageli (30–79%) | Esineb 1 haiguses |
| RTTNrotatin | Sageli (30–79%) | Esineb 2 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sageli (30–79%) | Esineb 2 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Sageli (30–79%) | Esineb 2 haiguses |
| TMX2thioredoxin related transmembrane protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TP53RKTP53 regulating kinase | Sageli (30–79%) | Esineb 1 haiguses |
| TRMT10CtRNA methyltransferase 10C, mitochondrial RNase P subunit | Sageli (30–79%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Sageli (30–79%) | Esineb 2 haiguses |
| AHI1Abelson helper integration site 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ARL13BARF like GTPase 13B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARMC9armadillo repeat containing 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B9D1B9 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBY1chibby 1, beta catenin antagonist | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP104centrosomal protein 104 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CEP41centrosomal protein 41 | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL25A1collagen type XXV alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CPT2carnitine palmitoyltransferase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLVCR2FLVCR choline and putative heme transporter 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Mõnikord (5–29%) | Esineb 2 haiguses |
| KATNIPkatanin interacting protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF21Akinesin family member 21A | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MKS1MKS transition zone complex subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDE6Dphosphodiesterase 6D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PHOX2Apaired like homeobox 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIBF1progesterone immunomodulatory binding factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAC1Rac family small GTPase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RPGRIP1LRPGRIP1 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM218transmembrane protein 218 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TMEM67transmembrane protein 67 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBA1Atubulin alpha 1a | Mõnikord (5–29%) | Esineb 3 haiguses |
| VPS4Avacuolar protein sorting 4 homolog A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Harva (1–4%) | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| NPRL2NPR2 like, GATOR1 complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| NPRL3NPR3 like, GATOR1 complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Harva (1–4%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Harva (1–4%) | Esineb 2 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Pole registreeritud | Esineb 1 haiguses |
| BMPERBMP binding endothelial regulator | Pole registreeritud | Esineb 1 haiguses |
| C2CD3C2 domain containing 3 centriole elongation regulator | Pole registreeritud | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| FHfumarate hydratase | Pole registreeritud | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Pole registreeritud | Esineb 1 haiguses |
| OCLNoccludin | Pole registreeritud | Esineb 1 haiguses |
| PAX6paired box 6 | Pole registreeritud | Esineb 1 haiguses |
| RECQL4RecQ like helicase 4 | Pole registreeritud | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| SRD5A3steroid 5 alpha-reductase 3 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| TUFMTu translation elongation factor, mitochondrial | Pole registreeritud | Esineb 1 haiguses |
| USP18ubiquitin specific peptidase 18 | Pole registreeritud | Esineb 1 haiguses |
| WDR62WD repeat domain 62 | Pole registreeritud | Esineb 1 haiguses |
| WT1WT1 transcription factor | Pole registreeritud | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | 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.
Kitsamad tunnused
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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast