AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Piirre
Delayed ability to walk
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Yhteenveto
- Tunnetaan myös nimellä
- Delayed walking
- Elimistön järjestelmä
- Abnormality of the nervous system
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Tämä sivu datana
Lisää sivun osoitteen perään .json tai pyydä application/json-muotoa, niin saat sivun JSON-muodossa.
library(jsonlite)
url <- "https://dantelabs.com/traits/delayed-ability-to-walk.json"
page <- fromJSON(url)
page$trait$nameDelayed ability to walkHP:0031936
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Lue Delayed ability to walk-nimiseen tai sen kanssa liittyvät geenit ja muu genomisi yhdellä testillä.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa
Tilaa Genome Test366 geeniä, jotka liittyvät piirteeseen Delayed ability to walk
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Delayed ability to walk esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ABCA2ATP binding cassette subfamily A member 2 | Aina | 1 sairaudessa |
| ADARB1adenosine deaminase RNA specific B1 | Aina | 1 sairaudessa |
| ADCY5adenylate cyclase 5 | Aina | 2 sairaudessa |
| AGO1argonaute RISC component 1 | Aina | 1 sairaudessa |
| AMPD2adenosine monophosphate deaminase 2 | Aina | 1 sairaudessa |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Aina | 1 sairaudessa |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Aina | 1 sairaudessa |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Aina | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| ARL13BARF like GTPase 13B | Aina | 1 sairaudessa |
| ATG5autophagy related 5 | Aina | 1 sairaudessa |
| ATG7autophagy related 7 | Aina | 1 sairaudessa |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Aina | 1 sairaudessa |
| ATXN7L3ataxin 7 like 3 | Aina | 1 sairaudessa |
| BCL11ABCL11 transcription factor A | Aina | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Aina | 1 sairaudessa |
| CCDC22CCC complex scaffolding subunit CCDC22 | Aina | 1 sairaudessa |
| CCT3chaperonin containing TCP1 subunit 3 | Aina | 1 sairaudessa |
| CDK10cyclin dependent kinase 10 | Aina | 1 sairaudessa |
| CDK13cyclin dependent kinase 13 | Aina | 1 sairaudessa |
| CFL2cofilin 2 | Aina | 1 sairaudessa |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Aina | 1 sairaudessa |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Aina | 1 sairaudessa |
| CLCN3Cl-/H+ antiporter 3 | Aina | 1 sairaudessa |
| CLDN11claudin 11 | Aina | 1 sairaudessa |
| COL3A1collagen type III alpha 1 chain | Aina | 1 sairaudessa |
| COL4A2collagen type IV alpha 2 chain | Aina | 1 sairaudessa |
| COL6A2collagen type VI alpha 2 chain | Aina | 1 sairaudessa |
| COPB1coat protein complex I subunit beta 1 | Aina | 1 sairaudessa |
| CPLX1complexin 1 | Aina | 1 sairaudessa |
| CSNK2A1casein kinase 2 alpha 1 | Aina | 1 sairaudessa |
| CUL3cullin 3 | Aina | 1 sairaudessa |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| DCPSdecapping enzyme, scavenger | Aina | 1 sairaudessa |
| DDOSTdolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | Aina | 1 sairaudessa |
| DHRS3dehydrogenase/reductase 3 | Aina | 1 sairaudessa |
| DOCK3dedicator of cytokinesis 3 | Aina | 1 sairaudessa |
| DONSONDNA replication fork stabilization factor DONSON | Aina | 1 sairaudessa |
| DOT1LDOT1 like histone lysine methyltransferase | Aina | 1 sairaudessa |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Aina | 1 sairaudessa |
Näytä 326 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| DPYSL5dihydropyrimidinase like 5 | Aina | 1 sairaudessa |
| EIF2AK1eukaryotic translation initiation factor 2 alpha kinase 1 | Aina | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Aina | 1 sairaudessa |
| EXOC6Bexocyst complex component 6B | Aina | 1 sairaudessa |
| FAR1fatty acyl-CoA reductase 1 | Aina | 1 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Aina | 1 sairaudessa |
| FBXL3F-box and leucine rich repeat protein 3 | Aina | 1 sairaudessa |
| FEM1Bfem-1 homolog B | Aina | 1 sairaudessa |
| FITM2fat storage inducing transmembrane protein 2 | Aina | 1 sairaudessa |
| FKBP14FKBP prolyl isomerase 14 | Aina | 1 sairaudessa |
| FOXG1forkhead box G1 | Aina | 1 sairaudessa |
| FOXP1forkhead box P1 | Aina | 1 sairaudessa |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Aina | 1 sairaudessa |
| GARS1glycyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| GATMglycine amidinotransferase | Aina | 1 sairaudessa |
| GET4guided entry of tail-anchored proteins factor 4 | Aina | 1 sairaudessa |
| GNAI1G protein subunit alpha i1 | Aina | 1 sairaudessa |
| GTF2H4general transcription factor IIH subunit 4 | Aina | 1 sairaudessa |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Aina | 1 sairaudessa |
| HIVEP2HIVEP zinc finger 2 | Aina | 1 sairaudessa |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Aina | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Aina | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Aina | 1 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 2 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| JPH1junctophilin 1 | Aina | 1 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| KAT6Alysine acetyltransferase 6A | Aina | 1 sairaudessa |
| KLHL15kelch like family member 15 | Aina | 1 sairaudessa |
| KPNA3karyopherin subunit alpha 3 | Aina | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Aina | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Aina | 1 sairaudessa |
| LMNAlamin A/C | Aina | 1 sairaudessa |
| LMNB1lamin B1 | Aina | 1 sairaudessa |
| LMNB2lamin B2 | Aina | 1 sairaudessa |
| LRRC32leucine rich repeat containing 32 | Aina | 1 sairaudessa |
| MAN2B2mannosidase alpha class 2B member 2 | Aina | 1 sairaudessa |
| MARS1methionyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Aina | 1 sairaudessa |
| MECP2methyl-CpG binding protein 2 | Aina | 2 sairaudessa |
| MED16mediator complex subunit 16 | Aina | 1 sairaudessa |
| MEF2Cmyocyte enhancer factor 2C | Aina | 1 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Aina | 1 sairaudessa |
| MPZmyelin protein zero | Aina | 1 sairaudessa |
| MRASmuscle RAS oncogene homolog | Aina | 1 sairaudessa |
| MRPS14mitochondrial ribosomal protein S14 | Aina | 1 sairaudessa |
| MRPS25mitochondrial ribosomal protein S25 | Aina | 1 sairaudessa |
| MSL3MSL complex subunit 3 | Aina | 1 sairaudessa |
| MYT1Lmyelin transcription factor 1 like | Aina | 1 sairaudessa |
| NARS1asparaginyl-tRNA synthetase 1 | Aina | 2 sairaudessa |
| NCDNneurochondrin | Aina | 1 sairaudessa |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Aina | 1 sairaudessa |
| NEUROD2neuronal differentiation 2 | Aina | 1 sairaudessa |
| NFU1NFU1 iron-sulfur cluster scaffold | Aina | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Aina | 1 sairaudessa |
| NONOnon-POU domain containing octamer binding | Aina | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Aina | 1 sairaudessa |
| NUDT2nudix hydrolase 2 | Aina | 1 sairaudessa |
| ODC1ornithine decarboxylase 1 | Aina | 1 sairaudessa |
| OTUD7AOTU deubiquitinase 7A | Aina | 1 sairaudessa |
| PAK3p21 (RAC1) activated kinase 3 | Aina | 1 sairaudessa |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Aina | 1 sairaudessa |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Aina | 1 sairaudessa |
| PHEXphosphate regulating endopeptidase X-linked | Aina | 2 sairaudessa |
| PIGCphosphatidylinositol glycan anchor biosynthesis class C | Aina | 1 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Aina | 1 sairaudessa |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Aina | 1 sairaudessa |
| PMPCApeptidase, mitochondrial processing subunit alpha | Aina | 2 sairaudessa |
| POLR1ARNA polymerase I subunit A | Aina | 1 sairaudessa |
| POMKprotein O-mannose kinase | Aina | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Aina | 1 sairaudessa |
| PRMT7protein arginine methyltransferase 7 | Aina | 1 sairaudessa |
| PUM1pumilio RNA binding family member 1 | Aina | 1 sairaudessa |
| RAB11BRAB11B, member RAS oncogene family | Aina | 1 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Aina | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Aina | 1 sairaudessa |
| RAD51RAD51 recombinase | Aina | 1 sairaudessa |
| RBL2RB transcriptional corepressor like 2 | Aina | 1 sairaudessa |
| RBSNrabenosyn, RAB effector | Aina | 1 sairaudessa |
| RNU12RNA, U12 small nuclear | Aina | 1 sairaudessa |
| RNU6ATACRNA, U6atac small nuclear | Aina | 1 sairaudessa |
| ROGDIrogdi atypical leucine zipper | Aina | 1 sairaudessa |
| RUBCNrubicon autophagy regulator | Aina | 1 sairaudessa |
| RYR1ryanodine receptor 1 | Aina | 2 sairaudessa |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Aina | 1 sairaudessa |
| SETD5SET domain containing 5 | Aina | 1 sairaudessa |
| SGSM3small G protein signaling modulator 3 | Aina | 1 sairaudessa |
| SHMT2serine hydroxymethyltransferase 2 | Aina | 1 sairaudessa |
| SKOR2SKI family transcriptional corepressor 2 | Aina | 1 sairaudessa |
| SLC18A2solute carrier family 18 member A2 | Aina | 1 sairaudessa |
| SLC25A12solute carrier family 25 member 12 | Aina | 1 sairaudessa |
| SLC25A42solute carrier family 25 member 42 | Aina | 1 sairaudessa |
| SLC37A4solute carrier family 37 member 4 | Aina | 1 sairaudessa |
| SLC5A7solute carrier family 5 member 7 | Aina | 1 sairaudessa |
| SLC9A1solute carrier family 9 member A1 | Aina | 1 sairaudessa |
| SMC1Astructural maintenance of chromosomes 1A | Aina | 1 sairaudessa |
| SNAP25synaptosome associated protein 25 | Aina | 1 sairaudessa |
| SONSON DNA and RNA binding protein | Aina | 1 sairaudessa |
| SPTSSAserine palmitoyltransferase small subunit A | Aina | 2 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Aina | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Aina | 2 sairaudessa |
| SYT1synaptotagmin 1 | Aina | 1 sairaudessa |
| TAF4TATA-box binding protein associated factor 4 | Aina | 1 sairaudessa |
| TCF20transcription factor 20 | Aina | 1 sairaudessa |
| TFGtrafficking from ER to golgi regulator | Aina | 1 sairaudessa |
| TGthyroglobulin | Aina | 1 sairaudessa |
| TIMM50translocase of inner mitochondrial membrane 50 | Aina | 2 sairaudessa |
| TM2D3TM2 domain containing 3 | Aina | 1 sairaudessa |
| TMEM147transmembrane protein 147 | Aina | 1 sairaudessa |
| TMEM163transmembrane protein 163 | Aina | 1 sairaudessa |
| TMEM222transmembrane protein 222 | Aina | 1 sairaudessa |
| TMEM63Atransmembrane protein 63A | Aina | 1 sairaudessa |
| TRA2Btransformer 2 beta homolog | Aina | 1 sairaudessa |
| TRAPPC10trafficking protein particle complex subunit 10 | Aina | 1 sairaudessa |
| TRIM2tripartite motif containing 2 | Aina | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Aina | 1 sairaudessa |
| TRIOtrio Rho guanine nucleotide exchange factor | Aina | 2 sairaudessa |
| TRIT1tRNA isopentenyltransferase 1 | Aina | 1 sairaudessa |
| TRMT1tRNA methyltransferase 1 | Aina | 1 sairaudessa |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Aina | 1 sairaudessa |
| TTI2TELO2 interacting protein 2 | Aina | 1 sairaudessa |
| UBE3Aubiquitin protein ligase E3A | Aina | 2 sairaudessa |
| UNC13Aunc-13 homolog A | Aina | 2 sairaudessa |
| VLDLRvery low density lipoprotein receptor | Aina | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Aina | 1 sairaudessa |
| WASF1WASP family member 1 | Aina | 1 sairaudessa |
| WASHC4WASH complex subunit 4 | Aina | 1 sairaudessa |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Aina | 1 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| ZNF148zinc finger protein 148 | Aina | 1 sairaudessa |
| ZNF407zinc finger protein 407 | Aina | 1 sairaudessa |
| ABCB7ATP binding cassette subfamily B member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACBD6acyl-CoA binding domain containing 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ARID1BAT-rich interaction domain 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNOT3CCR4-NOT transcription complex subunit 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNTNAP2contactin associated protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| COL6A3collagen type VI alpha 3 chain | Hyvin usein (80–99%) | 1 sairaudessa |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FTH1ferritin heavy chain 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| H3-3AH3.3 histone A | Hyvin usein (80–99%) | 1 sairaudessa |
| HDAC4histone deacetylase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Hyvin usein (80–99%) | 1 sairaudessa |
| MACF1microtubule actin crosslinking factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Hyvin usein (80–99%) | 1 sairaudessa |
| NAV3neuron navigator 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDC1NDC1 transmembrane nucleoporin | Hyvin usein (80–99%) | 1 sairaudessa |
| PLP1proteolipid protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Hyvin usein (80–99%) | 1 sairaudessa |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Hyvin usein (80–99%) | 2 sairaudessa |
| RAI1retinoic acid induced 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU2-2RNA, U2 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU5B-1RNA, U5B small nuclear 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Hyvin usein (80–99%) | 1 sairaudessa |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TTI1TELO2 interacting protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Hyvin usein (80–99%) | 1 sairaudessa |
| ZFXzinc finger protein X-linked | Hyvin usein (80–99%) | 1 sairaudessa |
| ADGRL1adhesion G protein-coupled receptor L1 | Usein (30–79%) | 1 sairaudessa |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Usein (30–79%) | 1 sairaudessa |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Usein (30–79%) | 1 sairaudessa |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Usein (30–79%) | 1 sairaudessa |
| ATP10AATPase phospholipid transporting 10A (putative) | Usein (30–79%) | 1 sairaudessa |
| ATP13A2ATPase cation transporting 13A2 | Usein (30–79%) | 1 sairaudessa |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Usein (30–79%) | 1 sairaudessa |
| BSNDbarttin CLCNK type accessory subunit beta | Usein (30–79%) | 1 sairaudessa |
| CCDC134coiled-coil domain containing 134 | Usein (30–79%) | 1 sairaudessa |
| CELF2CUGBP Elav-like family member 2 | Usein (30–79%) | 1 sairaudessa |
| CHMP1Acharged multivesicular body protein 1A | Usein (30–79%) | 1 sairaudessa |
| CLCNKAchloride voltage-gated channel Ka | Usein (30–79%) | 1 sairaudessa |
| CLCNKBchloride voltage-gated channel Kb | Usein (30–79%) | 1 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Usein (30–79%) | 1 sairaudessa |
| COASYCoenzyme A synthase | Usein (30–79%) | 1 sairaudessa |
| COG1component of oligomeric golgi complex 1 | Usein (30–79%) | 1 sairaudessa |
| COL12A1collagen type XII alpha 1 chain | Usein (30–79%) | 2 sairaudessa |
| CRBNcereblon | Usein (30–79%) | 1 sairaudessa |
| CSNK2Bcasein kinase 2 beta | Usein (30–79%) | 1 sairaudessa |
| CTCFCCCTC-binding factor | Usein (30–79%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Usein (30–79%) | 1 sairaudessa |
| CWC27CWC27 spliceosome associated cyclophilin | Usein (30–79%) | 1 sairaudessa |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Usein (30–79%) | 1 sairaudessa |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Usein (30–79%) | 1 sairaudessa |
| DAG1dystroglycan 1 | Usein (30–79%) | 1 sairaudessa |
| DHPSdeoxyhypusine synthase | Usein (30–79%) | 1 sairaudessa |
| DLATdihydrolipoamide S-acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| DPF2double PHD fingers 2 | Usein (30–79%) | 1 sairaudessa |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Usein (30–79%) | 1 sairaudessa |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Usein (30–79%) | 1 sairaudessa |
| ERLIN1ER lipid raft associated 1 | Usein (30–79%) | 1 sairaudessa |
| FBLN1fibulin 1 | Usein (30–79%) | 1 sairaudessa |
| FBXO11F-box protein 11 | Usein (30–79%) | 1 sairaudessa |
| FRMPD4FERM and PDZ domain containing 4 | Usein (30–79%) | 1 sairaudessa |
| FUSFUS RNA binding protein | Usein (30–79%) | 1 sairaudessa |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Usein (30–79%) | 1 sairaudessa |
| GPRC5BG protein-coupled receptor class C group 5 member B | Usein (30–79%) | 1 sairaudessa |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Usein (30–79%) | 1 sairaudessa |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Usein (30–79%) | 1 sairaudessa |
| HMBShydroxymethylbilane synthase | Usein (30–79%) | 1 sairaudessa |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Usein (30–79%) | 1 sairaudessa |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Usein (30–79%) | 2 sairaudessa |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Usein (30–79%) | 1 sairaudessa |
| KDM1Alysine demethylase 1A | Usein (30–79%) | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Usein (30–79%) | 1 sairaudessa |
| KICS2KICSTOR subunit 2 | Usein (30–79%) | 1 sairaudessa |
| KLHL20kelch like family member 20 | Usein (30–79%) | 1 sairaudessa |
| KPTNkaptin, actin binding protein | Usein (30–79%) | 1 sairaudessa |
| LBRlamin B receptor | Usein (30–79%) | 1 sairaudessa |
| LRRC7leucine rich repeat containing 7 | Usein (30–79%) | 1 sairaudessa |
| MCM3APminichromosome maintenance complex component 3 associated protein | Usein (30–79%) | 1 sairaudessa |
| NBEAneurobeachin | Usein (30–79%) | 1 sairaudessa |
| NCAPG2non-SMC condensin II complex subunit G2 | Usein (30–79%) | 1 sairaudessa |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Usein (30–79%) | 1 sairaudessa |
| NFIXnuclear factor I X | Usein (30–79%) | 1 sairaudessa |
| NOTCH3notch receptor 3 | Usein (30–79%) | 1 sairaudessa |
| PACS2phosphofurin acidic cluster sorting protein 2 | Usein (30–79%) | 1 sairaudessa |
| PGM2L1phosphoglucomutase 2 like 1 | Usein (30–79%) | 1 sairaudessa |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Usein (30–79%) | 1 sairaudessa |
| POLR1CRNA polymerase I and III subunit C | Usein (30–79%) | 1 sairaudessa |
| POLR3BRNA polymerase III subunit B | Usein (30–79%) | 1 sairaudessa |
| PPFIA3PPFI scaffold protein A3 | Usein (30–79%) | 1 sairaudessa |
| RALARAS like proto-oncogene A | Usein (30–79%) | 1 sairaudessa |
| RETREG1reticulophagy regulator 1 | Usein (30–79%) | 1 sairaudessa |
| RORARAR related orphan receptor A | Usein (30–79%) | 1 sairaudessa |
| RPL10ribosomal protein L10 | Usein (30–79%) | 1 sairaudessa |
| RYR3ryanodine receptor 3 | Usein (30–79%) | 1 sairaudessa |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Usein (30–79%) | 1 sairaudessa |
| SEMA6Bsemaphorin 6B | Usein (30–79%) | 1 sairaudessa |
| SIGMAR1sigma receptor chaperone 1 | Usein (30–79%) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Usein (30–79%) | 1 sairaudessa |
| SLC9A7solute carrier family 9 member A7 | Usein (30–79%) | 1 sairaudessa |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Usein (30–79%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Usein (30–79%) | 1 sairaudessa |
| SORDsorbitol dehydrogenase | Usein (30–79%) | 1 sairaudessa |
| SOX4SRY-box transcription factor 4 | Usein (30–79%) | 1 sairaudessa |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Usein (30–79%) | 1 sairaudessa |
| SPOPspeckle type BTB/POZ protein | Usein (30–79%) | 2 sairaudessa |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Usein (30–79%) | 1 sairaudessa |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Usein (30–79%) | 1 sairaudessa |
| SRRM2serine/arginine repetitive matrix 2 | Usein (30–79%) | 1 sairaudessa |
| TANGO2transport and golgi organization 2 homolog | Usein (30–79%) | 1 sairaudessa |
| TARDBPTAR DNA binding protein | Usein (30–79%) | 1 sairaudessa |
| TRMT2BtRNA methyltransferase 2B | Usein (30–79%) | 1 sairaudessa |
| UBQLN2ubiquilin 2 | Usein (30–79%) | 1 sairaudessa |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Usein (30–79%) | 1 sairaudessa |
| WDR26WD repeat domain 26 | Usein (30–79%) | 2 sairaudessa |
| WDR45WD repeat domain 45 | Usein (30–79%) | 1 sairaudessa |
| WDR81WD repeat domain 81 | Usein (30–79%) | 1 sairaudessa |
| YY1YY1 transcription factor | Usein (30–79%) | 1 sairaudessa |
| ZBTB11zinc finger and BTB domain containing 11 | Usein (30–79%) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Usein (30–79%) | 2 sairaudessa |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Usein (30–79%) | 1 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Joskus (5–29%) | 1 sairaudessa |
| AMNamnion associated transmembrane protein | Joskus (5–29%) | 1 sairaudessa |
| CADM3cell adhesion molecule 3 | Joskus (5–29%) | 1 sairaudessa |
| CUBNcubilin | Joskus (5–29%) | 1 sairaudessa |
| DOLKdolichol kinase | Joskus (5–29%) | 1 sairaudessa |
| FLVCR1FLVCR choline and heme transporter 1 | Joskus (5–29%) | 1 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Joskus (5–29%) | 1 sairaudessa |
| HK1hexokinase 1 | Joskus (5–29%) | 1 sairaudessa |
| JAG1jagged canonical Notch ligand 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM3Blysine demethylase 3B | Joskus (5–29%) | 1 sairaudessa |
| LAMA2laminin subunit alpha 2 | Joskus (5–29%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Joskus (5–29%) | 1 sairaudessa |
| MEGF8multiple EGF like domains 8 | Joskus (5–29%) | 1 sairaudessa |
| MID1midline 1 | Joskus (5–29%) | 1 sairaudessa |
| MTPAPmitochondrial poly(A) polymerase | Joskus (5–29%) | 1 sairaudessa |
| OPHN1oligophrenin 1 | Joskus (5–29%) | 1 sairaudessa |
| RTN2reticulon 2 | Joskus (5–29%) | 1 sairaudessa |
| SATB1SATB homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| SCAF4SR-related CTD associated factor 4 | Joskus (5–29%) | 1 sairaudessa |
| SELENONselenoprotein N | Joskus (5–29%) | 1 sairaudessa |
| TMEM106Btransmembrane protein 106B | Joskus (5–29%) | 1 sairaudessa |
| TNPO3transportin 3 | Joskus (5–29%) | 1 sairaudessa |
| TPM2tropomyosin 2 | Joskus (5–29%) | 1 sairaudessa |
| XYLT1xylosyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Harvinainen (1–4 %) | 1 sairaudessa |
| ACTN2actinin alpha 2 | Ei kirjattu | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Ei kirjattu | 1 sairaudessa |
| ASXL3ASXL transcriptional regulator 3 | Ei kirjattu | 1 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Ei kirjattu | 1 sairaudessa |
| BCL11BBCL11 transcription factor B | Ei kirjattu | 1 sairaudessa |
| BRAT1BRCA1 associated ATM activator 1 | Ei kirjattu | 1 sairaudessa |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Ei kirjattu | 1 sairaudessa |
| CHD3chromodomain helicase DNA binding protein 3 | Ei kirjattu | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Ei kirjattu | 1 sairaudessa |
| DHX30DExH-box helicase 30 | Ei kirjattu | 1 sairaudessa |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Ei kirjattu | 1 sairaudessa |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Ei kirjattu | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Ei kirjattu | 1 sairaudessa |
| ERLIN2ER lipid raft associated 2 | Ei kirjattu | 1 sairaudessa |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ei kirjattu | 1 sairaudessa |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ei kirjattu | 1 sairaudessa |
| KDM5Blysine demethylase 5B | Ei kirjattu | 1 sairaudessa |
| KMT2Elysine methyltransferase 2E (inactive) | Ei kirjattu | 1 sairaudessa |
| LSSlanosterol synthase | Ei kirjattu | 1 sairaudessa |
| MAGEL2MAGE family member L2 | Ei kirjattu | 1 sairaudessa |
| MYO9Amyosin IXA | Ei kirjattu | 1 sairaudessa |
| NFASCneurofascin | Ei kirjattu | 1 sairaudessa |
| PAK1p21 (RAC1) activated kinase 1 | Ei kirjattu | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ei kirjattu | 1 sairaudessa |
| POLR2ARNA polymerase II subunit A | Ei kirjattu | 1 sairaudessa |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Ei kirjattu | 1 sairaudessa |
| PUS7pseudouridine synthase 7 | Ei kirjattu | 1 sairaudessa |
| RUSC2RUN and SH3 domain containing 2 | Ei kirjattu | 1 sairaudessa |
| SETSET nuclear proto-oncogene | Ei kirjattu | 1 sairaudessa |
| SLC12A2solute carrier family 12 member 2 | Ei kirjattu | 1 sairaudessa |
| SLC25A1solute carrier family 25 member 1 | Ei kirjattu | 1 sairaudessa |
| STAG2STAG2 cohesin complex component | Ei kirjattu | 1 sairaudessa |
| TBR1T-box brain transcription factor 1 | Ei kirjattu | 1 sairaudessa |
| TMEM94transmembrane protein 94 | Ei kirjattu | 1 sairaudessa |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ei kirjattu | 1 sairaudessa |
| TRAPPC9trafficking protein particle complex subunit 9 | Ei kirjattu | 1 sairaudessa |
| TRRAPtransformation/transcription domain associated protein | Ei kirjattu | 1 sairaudessa |
| ZC4H2zinc finger C4H2-type containing | Ei kirjattu | 1 sairaudessa |
| ZSWIM6zinc finger SWIM-type containing 6 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.17-8666dff2.
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