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Cecha
Intellectual disability, mild
Nazwa kliniczna: Mild intellectual disability
Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.
Podsumowanie
- Układ organizmu
- Abnormality of the nervous system
Intellectual disability, mildHP:0001256
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Read the genes linked to Intellectual disability, mild, and the rest of your genome, with one test.
Od 449 $Bezpłatna wysyłka · Wyniki w ciągu 6–8 tygodni
Zamawiam Genome Test409 genów powiązanych z Intellectual disability, mild
Zmiany w tych genach powodują rzadkie choroby, w których występuje Intellectual disability, mild. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACTBactin beta | Zawsze | W 1 chorobie |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Zawsze | W 1 chorobie |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Zawsze | W 1 chorobie |
| ATP13A2ATPase cation transporting 13A2 | Zawsze | W 1 chorobie |
| ATP6V0CATPase H+ transporting V0 subunit c | Zawsze | W 1 chorobie |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Zawsze | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Zawsze | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Zawsze | W 1 chorobie |
| BRWD3bromodomain and WD repeat domain containing 3 | Zawsze | W 1 chorobie |
| CA8carbonic anhydrase 8 (inactive) | Zawsze | W 1 chorobie |
| CACHD1cache domain containing 1 | Zawsze | W 1 chorobie |
| CAMTA1calmodulin binding transcription activator 1 | Zawsze | W 2 chorobach |
| CARS1cysteinyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Zawsze | W 1 chorobie |
| CDH11cadherin 11 | Zawsze | W 1 chorobie |
| CDK6cyclin dependent kinase 6 | Zawsze | W 1 chorobie |
| CRBNcereblon | Zawsze | W 1 chorobie |
| CSTF2cleavage stimulation factor subunit 2 | Zawsze | W 1 chorobie |
| CWF19L1CWF19 like cell cycle control factor 1 | Zawsze | W 1 chorobie |
| DAP3death associated protein 3 | Zawsze | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Zawsze | W 2 chorobach |
| DSTdystonin | Zawsze | W 1 chorobie |
| DSTYKdual serine/threonine and tyrosine protein kinase | Zawsze | W 1 chorobie |
| EDC3enhancer of mRNA decapping 3 | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| EMC10ER membrane protein complex subunit 10 | Zawsze | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Zawsze | W 1 chorobie |
| FDXRferredoxin reductase | Zawsze | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| GINS3GINS complex subunit 3 | Zawsze | W 1 chorobie |
| GON4Lgon-4 like | Zawsze | W 1 chorobie |
| GTF2H4general transcription factor IIH subunit 4 | Zawsze | W 1 chorobie |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Zawsze | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Zawsze | W 1 chorobie |
| INTS11integrator complex subunit 11 | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 2 chorobach |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Zawsze | W 1 chorobie |
| KLC4kinesin light chain 4 | Zawsze | W 1 chorobie |
| KLHL20kelch like family member 20 | Zawsze | W 1 chorobie |
Pokaż jeszcze 369 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| MASP1MBL associated serine protease 1 | Zawsze | W 1 chorobie |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Zawsze | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Zawsze | W 2 chorobach |
| METTL23methyltransferase 23, arginine | Zawsze | W 1 chorobie |
| MIA3MIA SH3 domain ER export factor 3 | Zawsze | W 1 chorobie |
| MMADHCmetabolism of cobalamin associated D | Zawsze | W 1 chorobie |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Zawsze | W 1 chorobie |
| MTSS2MTSS I-BAR domain containing 2 | Zawsze | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Zawsze | W 2 chorobach |
| NIT1nitrilase 1 | Zawsze | W 1 chorobie |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Zawsze | W 1 chorobie |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Zawsze | W 1 chorobie |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Zawsze | W 1 chorobie |
| PEX11Bperoxisomal biogenesis factor 11 beta | Zawsze | W 1 chorobie |
| PHF8PHD finger protein 8 | Zawsze | W 2 chorobach |
| PITRM1pitrilysin metallopeptidase 1 | Zawsze | W 1 chorobie |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Zawsze | W 2 chorobach |
| RAB3ARAB3A, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Zawsze | W 1 chorobie |
| RARS1arginyl-tRNA synthetase 1 | Zawsze | W 2 chorobach |
| RC3H1ring finger and CCCH-type domains 1 | Zawsze | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Zawsze | W 2 chorobach |
| RPS6KA3ribosomal protein S6 kinase A3 | Zawsze | W 1 chorobie |
| RUBCNrubicon autophagy regulator | Zawsze | W 1 chorobie |
| SELENOIselenoprotein I | Zawsze | W 2 chorobach |
| SGSM3small G protein signaling modulator 3 | Zawsze | W 1 chorobie |
| SKOR2SKI family transcriptional corepressor 2 | Zawsze | W 1 chorobie |
| SLC18A2solute carrier family 18 member A2 | Zawsze | W 1 chorobie |
| SLC25A36solute carrier family 25 member 36 | Zawsze | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Zawsze | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Zawsze | W 1 chorobie |
| SPARTspartin | Zawsze | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Zawsze | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Zawsze | W 1 chorobie |
| TAF13TATA-box binding protein associated factor 13 | Zawsze | W 1 chorobie |
| TAF4TATA-box binding protein associated factor 4 | Zawsze | W 1 chorobie |
| TBC1D7TBC1 domain family member 7 | Zawsze | W 1 chorobie |
| TCF20transcription factor 20 | Zawsze | W 1 chorobie |
| TCP1t-complex 1 | Zawsze | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Zawsze | W 1 chorobie |
| TMEM63Ctransmembrane protein 63C | Zawsze | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 1 chorobie |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Zawsze | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| ZMYND11zinc finger MYND-type containing 11 | Zawsze | W 1 chorobie |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Bardzo często (80–99%) | W 1 chorobie |
| ALX4ALX homeobox 4 | Bardzo często (80–99%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Bardzo często (80–99%) | W 1 chorobie |
| BPTFbromodomain PHD finger transcription factor | Bardzo często (80–99%) | W 1 chorobie |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Bardzo często (80–99%) | W 1 chorobie |
| DCAF17DDB1 and CUL4 associated factor 17 | Bardzo często (80–99%) | W 1 chorobie |
| DLK1delta like non-canonical Notch ligand 1 | Bardzo często (80–99%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| ERMARDER membrane associated RNA degradation | Bardzo często (80–99%) | W 1 chorobie |
| FLNAfilamin A | Bardzo często (80–99%) | W 3 chorobach |
| FMR1fragile X messenger ribonucleoprotein 1 | Bardzo często (80–99%) | W 1 chorobie |
| GATA4GATA binding protein 4 | Bardzo często (80–99%) | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Bardzo często (80–99%) | W 2 chorobach |
| HMGA2high mobility group AT-hook 2 | Bardzo często (80–99%) | W 1 chorobie |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| IGF1insulin like growth factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| LEMD3LEM domain containing 3 | Bardzo często (80–99%) | W 1 chorobie |
| MAN2B1mannosidase alpha class 2B member 1 | Bardzo często (80–99%) | W 2 chorobach |
| MEG3maternally expressed 3 | Bardzo często (80–99%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| POLA1DNA polymerase alpha 1, catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| POU4F1POU class 4 homeobox 1 | Bardzo często (80–99%) | W 1 chorobie |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Bardzo często (80–99%) | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| RAI1retinoic acid induced 1 | Bardzo często (80–99%) | W 2 chorobach |
| RTL1retrotransposon Gag like 1 | Bardzo często (80–99%) | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Bardzo często (80–99%) | W 2 chorobach |
| SIN3ASIN3 transcription regulator family member A | Bardzo często (80–99%) | W 2 chorobach |
| SIN3BSIN3 transcription regulator family member B | Bardzo często (80–99%) | W 1 chorobie |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Bardzo często (80–99%) | W 1 chorobie |
| SRRM2serine/arginine repetitive matrix 2 | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Bardzo często (80–99%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Bardzo często (80–99%) | W 1 chorobie |
| WACWW domain containing adaptor with coiled-coil | Bardzo często (80–99%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Bardzo często (80–99%) | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Bardzo często (80–99%) | W 2 chorobach |
| AASSaminoadipate-semialdehyde synthase | Często (30–79%) | W 2 chorobach |
| ABCA2ATP binding cassette subfamily A member 2 | Często (30–79%) | W 1 chorobie |
| ABCC9ATP binding cassette subfamily C member 9 | Często (30–79%) | W 2 chorobach |
| ACP5acid phosphatase 5, tartrate resistant | Często (30–79%) | W 1 chorobie |
| ADAMTSL2ADAMTS like 2 | Często (30–79%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Często (30–79%) | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Często (30–79%) | W 2 chorobach |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Często (30–79%) | W 1 chorobie |
| AMER1APC membrane recruitment protein 1 | Często (30–79%) | W 1 chorobie |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Często (30–79%) | W 1 chorobie |
| APCAPC regulator of Wnt signaling pathway | Często (30–79%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Często (30–79%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Często (30–79%) | W 1 chorobie |
| ARXaristaless related homeobox | Często (30–79%) | W 1 chorobie |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Często (30–79%) | W 1 chorobie |
| ATP9AATPase phospholipid transporting 9A | Często (30–79%) | W 1 chorobie |
| BCORBCL6 corepressor | Często (30–79%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Często (30–79%) | W 1 chorobie |
| CD274CD274 molecule | Często (30–79%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Często (30–79%) | W 1 chorobie |
| COG1component of oligomeric golgi complex 1 | Często (30–79%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Często (30–79%) | W 1 chorobie |
| CSTBcystatin B | Często (30–79%) | W 1 chorobie |
| CUL3cullin 3 | Często (30–79%) | W 1 chorobie |
| DARS1aspartyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Często (30–79%) | W 1 chorobie |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Często (30–79%) | W 1 chorobie |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Często (30–79%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Często (30–79%) | W 1 chorobie |
| EXOSC2exosome component 2 | Często (30–79%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Często (30–79%) | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Często (30–79%) | W 1 chorobie |
| FREM1FRAS1 related extracellular matrix 1 | Często (30–79%) | W 1 chorobie |
| GALTgalactose-1-phosphate uridylyltransferase | Często (30–79%) | W 1 chorobie |
| GDI1GDP dissociation inhibitor 1 | Często (30–79%) | W 1 chorobie |
| GLIS3GLIS family zinc finger 3 | Często (30–79%) | W 1 chorobie |
| GLRA2glycine receptor alpha 2 | Często (30–79%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Często (30–79%) | W 2 chorobach |
| GP1BBglycoprotein Ib platelet subunit beta | Często (30–79%) | W 1 chorobie |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Często (30–79%) | W 1 chorobie |
| GPSM2G protein signaling modulator 2 | Często (30–79%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Często (30–79%) | W 1 chorobie |
| H19H19 imprinted maternally expressed transcript | Często (30–79%) | W 1 chorobie |
| HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Często (30–79%) | W 1 chorobie |
| HDAC6histone deacetylase 6 | Często (30–79%) | W 2 chorobach |
| HEATR3HEAT repeat containing 3 | Często (30–79%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Często (30–79%) | W 1 chorobie |
| HPD4-hydroxyphenylpyruvate dioxygenase | Często (30–79%) | W 2 chorobach |
| IGF2insulin like growth factor 2 | Często (30–79%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Często (30–79%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Często (30–79%) | W 1 chorobie |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Często (30–79%) | W 1 chorobie |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Często (30–79%) | W 1 chorobie |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Często (30–79%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Często (30–79%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Często (30–79%) | W 1 chorobie |
| KIF11kinesin family member 11 | Często (30–79%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Często (30–79%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Często (30–79%) | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Często (30–79%) | W 1 chorobie |
| MAGEL2MAGE family member L2 | Często (30–79%) | W 4 chorobach |
| MAN1B1mannosidase alpha class 1B member 1 | Często (30–79%) | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Często (30–79%) | W 1 chorobie |
| MCM3APminichromosome maintenance complex component 3 associated protein | Często (30–79%) | W 1 chorobie |
| MECOMMDS1 and EVI1 complex locus | Często (30–79%) | W 1 chorobie |
| MGPmatrix Gla protein | Często (30–79%) | W 2 chorobach |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 2 chorobach |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 1 chorobie |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Często (30–79%) | W 1 chorobie |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Często (30–79%) | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| NAV3neuron navigator 3 | Często (30–79%) | W 1 chorobie |
| NDNnecdin, MAGE family member | Często (30–79%) | W 3 chorobach |
| NGFnerve growth factor | Często (30–79%) | W 2 chorobach |
| NLGN4Xneuroligin 4 X-linked | Często (30–79%) | W 1 chorobie |
| NONOnon-POU domain containing octamer binding | Często (30–79%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Często (30–79%) | W 2 chorobach |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Często (30–79%) | W 1 chorobie |
| NUP54nucleoporin 54 | Często (30–79%) | W 1 chorobie |
| NUP62nucleoporin 62 | Często (30–79%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Często (30–79%) | W 3 chorobach |
| ORC1origin recognition complex subunit 1 | Często (30–79%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Często (30–79%) | W 1 chorobie |
| PCNAproliferating cell nuclear antigen | Często (30–79%) | W 1 chorobie |
| PEX10peroxisomal biogenesis factor 10 | Często (30–79%) | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Często (30–79%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Często (30–79%) | W 1 chorobie |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Często (30–79%) | W 1 chorobie |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Często (30–79%) | W 2 chorobach |
| PNPLA6patatin like domain 6, lysophospholipase | Często (30–79%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 1 chorobie |
| POLR3BRNA polymerase III subunit B | Często (30–79%) | W 1 chorobie |
| POU3F4POU class 3 homeobox 4 | Często (30–79%) | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Często (30–79%) | W 2 chorobach |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Często (30–79%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Często (30–79%) | W 1 chorobie |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Często (30–79%) | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Często (30–79%) | W 1 chorobie |
| RCBTB1RCC1 and BTB domain containing protein 1 | Często (30–79%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Często (30–79%) | W 1 chorobie |
| RSPRY1ring finger and SPRY domain containing 1 | Często (30–79%) | W 1 chorobie |
| RTN4IP1reticulon 4 interacting protein 1 | Często (30–79%) | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Często (30–79%) | W 1 chorobie |
| SCYL1SCY1 like pseudokinase 1 | Często (30–79%) | W 2 chorobach |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Często (30–79%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Często (30–79%) | W 1 chorobie |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Często (30–79%) | W 1 chorobie |
| SFXN4sideroflexin 4 | Często (30–79%) | W 1 chorobie |
| SH2B1SH2B adaptor protein 1 | Często (30–79%) | W 1 chorobie |
| SKIC2SKI2 subunit of superkiller complex | Często (30–79%) | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Często (30–79%) | W 1 chorobie |
| SLC12A6solute carrier family 12 member 6 | Często (30–79%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 2 chorobach |
| SLC35A3solute carrier family 35 member A3 | Często (30–79%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Często (30–79%) | W 4 chorobach |
| SPTBN2spectrin beta, non-erythrocytic 2 | Często (30–79%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Często (30–79%) | W 1 chorobie |
| TBC1D2BTBC1 domain family member 2B | Często (30–79%) | W 1 chorobie |
| TBK1TANK binding kinase 1 | Często (30–79%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 1 chorobie |
| THOC2THO complex subunit 2 | Często (30–79%) | W 1 chorobie |
| TKTtransketolase | Często (30–79%) | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Często (30–79%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Często (30–79%) | W 1 chorobie |
| VRK1VRK serine/threonine kinase 1 | Często (30–79%) | W 1 chorobie |
| WDR48WD repeat domain 48 | Często (30–79%) | W 1 chorobie |
| YY1YY1 transcription factor | Często (30–79%) | W 1 chorobie |
| ZFRzinc finger RNA binding protein | Często (30–79%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Często (30–79%) | W 1 chorobie |
| ZNF341zinc finger protein 341 | Często (30–79%) | W 1 chorobie |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Czasami (5–29%) | W 2 chorobach |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Czasami (5–29%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Czasami (5–29%) | W 1 chorobie |
| ALADaminolevulinate dehydratase | Czasami (5–29%) | W 1 chorobie |
| AMFRautocrine motility factor receptor | Czasami (5–29%) | W 1 chorobie |
| ANK3ankyrin 3 | Czasami (5–29%) | W 1 chorobie |
| ANO10anoctamin 10 | Czasami (5–29%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Czasami (5–29%) | W 1 chorobie |
| ATL1atlastin GTPase 1 | Czasami (5–29%) | W 1 chorobie |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Czasami (5–29%) | W 1 chorobie |
| BIN1bridging integrator 1 | Czasami (5–29%) | W 2 chorobach |
| BLMBLM RecQ like helicase | Czasami (5–29%) | W 1 chorobie |
| BMPR1Abone morphogenetic protein receptor type 1A | Czasami (5–29%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| CDKL5cyclin dependent kinase like 5 | Czasami (5–29%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Czasami (5–29%) | W 1 chorobie |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Czasami (5–29%) | W 1 chorobie |
| COG5component of oligomeric golgi complex 5 | Czasami (5–29%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 1 chorobie |
| DAG1dystroglycan 1 | Czasami (5–29%) | W 1 chorobie |
| DCDC2doublecortin domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| DHX9DExH-box helicase 9 | Czasami (5–29%) | W 1 chorobie |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Czasami (5–29%) | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Czasami (5–29%) | W 1 chorobie |
| DYMdymeclin | Czasami (5–29%) | W 1 chorobie |
| FBN1fibrillin 1 | Czasami (5–29%) | W 2 chorobach |
| FGF14fibroblast growth factor 14 | Czasami (5–29%) | W 1 chorobie |
| FKRPfukutin related protein | Czasami (5–29%) | W 1 chorobie |
| FOXP1forkhead box P1 | Czasami (5–29%) | W 1 chorobie |
| FZD4frizzled class receptor 4 | Czasami (5–29%) | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Czasami (5–29%) | W 2 chorobach |
| GORABgolgin, RAB6 interacting | Czasami (5–29%) | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Czasami (5–29%) | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Czasami (5–29%) | W 1 chorobie |
| GTPBP3GTP binding protein 3, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Czasami (5–29%) | W 1 chorobie |
| IFT140intraflagellar transport 140 | Czasami (5–29%) | W 1 chorobie |
| JAG1jagged canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| JAG2jagged canonical Notch ligand 2 | Czasami (5–29%) | W 1 chorobie |
| KIF1Ckinesin family member 1C | Czasami (5–29%) | W 1 chorobie |
| KLF13KLF transcription factor 13 | Czasami (5–29%) | W 1 chorobie |
| LEF1lymphoid enhancer binding factor 1 | Czasami (5–29%) | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Czasami (5–29%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Czasami (5–29%) | W 2 chorobach |
| LTBP2latent transforming growth factor beta binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Czasami (5–29%) | W 1 chorobie |
| MID1midline 1 | Czasami (5–29%) | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Czasami (5–29%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Czasami (5–29%) | W 1 chorobie |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Czasami (5–29%) | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Czasami (5–29%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Czasami (5–29%) | W 1 chorobie |
| MYT1Lmyelin transcription factor 1 like | Czasami (5–29%) | W 1 chorobie |
| NDPnorrin cystine knot growth factor NDP | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| NTNG1netrin G1 | Czasami (5–29%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Czasami (5–29%) | W 1 chorobie |
| PCDH19protocadherin 19 | Czasami (5–29%) | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Czasami (5–29%) | W 1 chorobie |
| POMKprotein O-mannose kinase | Czasami (5–29%) | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| POMT2protein O-mannosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| PSMB8proteasome 20S subunit beta 8 | Czasami (5–29%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 2 chorobach |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Czasami (5–29%) | W 2 chorobach |
| PYCR1pyrroline-5-carboxylate reductase 1 | Czasami (5–29%) | W 1 chorobie |
| RAB39BRAB39B, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Czasami (5–29%) | W 1 chorobie |
| RNF135ring finger protein 135 | Czasami (5–29%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| RPS6KC1ribosomal protein S6 kinase C1 | Czasami (5–29%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SARDHsarcosine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Czasami (5–29%) | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Czasami (5–29%) | W 1 chorobie |
| SLC29A3solute carrier family 29 member 3 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| SMSspermine synthase | Czasami (5–29%) | W 1 chorobie |
| SPEGstriated muscle enriched protein kinase | Czasami (5–29%) | W 1 chorobie |
| SRYsex determining region Y | Czasami (5–29%) | W 1 chorobie |
| TAC3tachykinin precursor 3 | Czasami (5–29%) | W 1 chorobie |
| THtyrosine hydroxylase | Czasami (5–29%) | W 1 chorobie |
| TRIM37tripartite motif containing 37 | Czasami (5–29%) | W 1 chorobie |
| TSPAN12tetraspanin 12 | Czasami (5–29%) | W 1 chorobie |
| TSPOAP1TSPO associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| TTC19tetratricopeptide repeat domain 19 | Czasami (5–29%) | W 1 chorobie |
| TTNtitin | Czasami (5–29%) | W 1 chorobie |
| VPS13Dvacuolar protein sorting 13 homolog D | Czasami (5–29%) | W 1 chorobie |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Czasami (5–29%) | W 1 chorobie |
| ZMYM2zinc finger MYM-type containing 2 | Czasami (5–29%) | W 1 chorobie |
| ZNF408zinc finger protein 408 | Czasami (5–29%) | W 1 chorobie |
| ZSCAN10zinc finger and SCAN domain containing 10 | Czasami (5–29%) | W 1 chorobie |
| ACAT1acetyl-CoA acetyltransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| ACVR1activin A receptor type 1 | Rzadko (1–4%) | W 1 chorobie |
| CABP4calcium binding protein 4 | Rzadko (1–4%) | W 1 chorobie |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Rzadko (1–4%) | W 1 chorobie |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Rzadko (1–4%) | W 1 chorobie |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Rzadko (1–4%) | W 1 chorobie |
| CRHcorticotropin releasing hormone | Rzadko (1–4%) | W 1 chorobie |
| DCCDCC netrin 1 receptor | Rzadko (1–4%) | W 2 chorobach |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Rzadko (1–4%) | W 1 chorobie |
| DNAL4dynein axonemal light chain 4 | Rzadko (1–4%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rzadko (1–4%) | W 1 chorobie |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Rzadko (1–4%) | W 1 chorobie |
| GBA2glucosylceramidase beta 2 | Rzadko (1–4%) | W 1 chorobie |
| HINT1histidine triad nucleotide binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Rzadko (1–4%) | W 1 chorobie |
| NTN1netrin 1 | Rzadko (1–4%) | W 2 chorobach |
| PRRT2proline rich transmembrane protein 2 | Rzadko (1–4%) | W 1 chorobie |
| RAD51RAD51 recombinase | Rzadko (1–4%) | W 2 chorobach |
| STAC3SH3 and cysteine rich domain 3 | Rzadko (1–4%) | W 1 chorobie |
| ARPC4actin related protein 2/3 complex subunit 4 | Nie odnotowano | W 1 chorobie |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Nie odnotowano | W 1 chorobie |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nie odnotowano | W 1 chorobie |
| C12orf57chromosome 12 open reading frame 57 | Nie odnotowano | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Nie odnotowano | W 1 chorobie |
| DLATdihydrolipoamide S-acetyltransferase | Nie odnotowano | W 1 chorobie |
| DMDdystrophin | Nie odnotowano | W 1 chorobie |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Nie odnotowano | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nie odnotowano | W 1 chorobie |
| FIBPFGF1 intracellular binding protein | Nie odnotowano | W 1 chorobie |
| FLCNfolliculin | Nie odnotowano | W 1 chorobie |
| GLB1galactosidase beta 1 | Nie odnotowano | W 1 chorobie |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Nie odnotowano | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Nie odnotowano | W 1 chorobie |
| MLC1modulator of VRAC current 1 | Nie odnotowano | W 1 chorobie |
| MSMO1methylsterol monooxygenase 1 | Nie odnotowano | W 1 chorobie |
| NF1neurofibromin 1 | Nie odnotowano | W 1 chorobie |
| NFE2L2NFE2 like bZIP transcription factor 2 | Nie odnotowano | W 1 chorobie |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Nie odnotowano | W 1 chorobie |
| SBDSSBDS ribosome maturation factor | Nie odnotowano | W 1 chorobie |
| SOX3SRY-box transcription factor 3 | Nie odnotowano | W 1 chorobie |
| SRP54signal recognition particle 54 | Nie odnotowano | W 1 chorobie |
| SRPX2sushi repeat containing protein X-linked 2 | Nie odnotowano | W 1 chorobie |
| SYN1synapsin I | Nie odnotowano | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Nie odnotowano | W 1 chorobie |
| TFAP2Btranscription factor AP-2 beta | Nie odnotowano | W 1 chorobie |
| THG1LtRNA-histidine guanylyltransferase 1 like | Nie odnotowano | W 1 chorobie |
| ZNF462zinc finger protein 462 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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