Cecha
Intellectual disability, severe
Nazwa kliniczna: Severe intellectual disability
Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.
Podsumowanie
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Intellectual disability, severe, and the rest of your genome, with one test.
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Zamawiam Genome Test413 genów powiązanych z Intellectual disability, severe
Zmiany w tych genach powodują rzadkie choroby, w których występuje Intellectual disability, severe. 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Zawsze | W 1 chorobie |
| ACO2aconitase 2 | Zawsze | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Zawsze | W 2 chorobach |
| ACTL6Bactin like 6B | Zawsze | W 1 chorobie |
| AHSGalpha 2-HS glycoprotein | Zawsze | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Zawsze | W 1 chorobie |
| AMOTL1angiomotin like 1 | Zawsze | W 1 chorobie |
| AMTaminomethyltransferase | Zawsze | W 1 chorobie |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Zawsze | W 2 chorobach |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Zawsze | W 2 chorobach |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Zawsze | W 2 chorobach |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Zawsze | W 2 chorobach |
| APC2APC regulator of Wnt signaling pathway 2 | Zawsze | W 2 chorobach |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Zawsze | W 1 chorobie |
| ARXaristaless related homeobox | Zawsze | W 3 chorobach |
| ATP6V0CATPase H+ transporting V0 subunit c | Zawsze | W 1 chorobie |
| BCAP31B cell receptor associated protein 31 | Zawsze | W 1 chorobie |
| BCAS3BCAS3 microtubule associated cell migration factor | Zawsze | W 1 chorobie |
| BCORL1BCL6 corepressor like 1 | Zawsze | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Zawsze | W 1 chorobie |
| C2CD3C2 domain containing 3 centriole elongation regulator | Zawsze | W 1 chorobie |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Zawsze | W 1 chorobie |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Zawsze | W 1 chorobie |
| CC2D1Acoiled-coil and C2 domain containing 1A | Zawsze | W 1 chorobie |
| CDC40cell division cycle 40 | Zawsze | W 1 chorobie |
| CEP135centrosomal protein 135 | Zawsze | W 2 chorobach |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| COPB1coat protein complex I subunit beta 1 | Zawsze | W 1 chorobie |
| CRBNcereblon | Zawsze | W 1 chorobie |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Zawsze | W 1 chorobie |
| CTNNA2catenin alpha 2 | Zawsze | W 1 chorobie |
| CTSDcathepsin D | Zawsze | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Zawsze | W 1 chorobie |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Zawsze | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Zawsze | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
Pokaż jeszcze 373 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| EML1EMAP like 1 | Zawsze | W 1 chorobie |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Zawsze | W 1 chorobie |
| FCSKfucose kinase | Zawsze | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Zawsze | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| FOXG1forkhead box G1 | Zawsze | W 2 chorobach |
| FRRS1Lferric chelate reductase 1 like | Zawsze | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Zawsze | W 1 chorobie |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Zawsze | W 1 chorobie |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Zawsze | W 1 chorobie |
| GAMTguanidinoacetate N-methyltransferase | Zawsze | W 2 chorobach |
| GATAD2BGATA zinc finger domain containing 2B | Zawsze | W 2 chorobach |
| GDI1GDP dissociation inhibitor 1 | Zawsze | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Zawsze | W 1 chorobie |
| GNPATglyceronephosphate O-acyltransferase | Zawsze | W 1 chorobie |
| GOT2glutamic-oxaloacetic transaminase 2 | Zawsze | W 1 chorobie |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Zawsze | W 1 chorobie |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Zawsze | W 2 chorobach |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zawsze | W 3 chorobach |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Zawsze | W 1 chorobie |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Zawsze | W 1 chorobie |
| HTThuntingtin | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| INTS11integrator complex subunit 11 | Zawsze | W 1 chorobie |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Zawsze | W 1 chorobie |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KAT5lysine acetyltransferase 5 | Zawsze | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Zawsze | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Zawsze | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Zawsze | W 3 chorobach |
| KDM5Clysine demethylase 5C | Zawsze | W 2 chorobach |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Zawsze | W 1 chorobie |
| KIF5Ckinesin family member 5C | Zawsze | W 1 chorobie |
| KLC4kinesin light chain 4 | Zawsze | W 1 chorobie |
| KLHL20kelch like family member 20 | Zawsze | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Zawsze | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Zawsze | W 1 chorobie |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Zawsze | W 2 chorobach |
| LINGO1leucine rich repeat and Ig domain containing 1 | Zawsze | W 1 chorobie |
| LMAN2Llectin, mannose binding 2 like | Zawsze | W 1 chorobie |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Zawsze | W 1 chorobie |
| MACF1microtubule actin crosslinking factor 1 | Zawsze | W 2 chorobach |
| MAP2K1mitogen-activated protein kinase kinase 1 | Zawsze | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Zawsze | W 1 chorobie |
| MBD5methyl-CpG binding domain protein 5 | Zawsze | W 2 chorobach |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Zawsze | W 5 chorobach |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MEF2Cmyocyte enhancer factor 2C | Zawsze | W 2 chorobach |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Zawsze | W 2 chorobach |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Zawsze | W 1 chorobie |
| MMADHCmetabolism of cobalamin associated D | Zawsze | W 1 chorobie |
| NDE1nudE neurodevelopment protein 1 | Zawsze | W 1 chorobie |
| NINninein | Zawsze | W 2 chorobach |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Zawsze | W 2 chorobach |
| OTUD6BOTU deubiquitinase 6B | Zawsze | W 2 chorobach |
| P4HTMprolyl 4-hydroxylase, transmembrane | Zawsze | W 1 chorobie |
| PAK1p21 (RAC1) activated kinase 1 | Zawsze | W 1 chorobie |
| PAK3p21 (RAC1) activated kinase 3 | Zawsze | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Zawsze | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Zawsze | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Zawsze | W 2 chorobach |
| PGBD5piggyBac transposable element derived 5 | Zawsze | W 1 chorobie |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Zawsze | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Zawsze | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Zawsze | W 3 chorobach |
| POMT2protein O-mannosyltransferase 2 | Zawsze | W 4 chorobach |
| PPIL1peptidylprolyl isomerase like 1 | Zawsze | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Zawsze | W 1 chorobie |
| PRSS12serine protease 12 | Zawsze | W 1 chorobie |
| PSMB1proteasome 20S subunit beta 1 | Zawsze | W 1 chorobie |
| PSMC1proteasome 26S subunit, ATPase 1 | Zawsze | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Zawsze | W 2 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 3 chorobach |
| RAB5IFRAB5 interacting factor | Zawsze | W 1 chorobie |
| RAC3Rac family small GTPase 3 | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 1 chorobie |
| RFT1RFT1 glycolipid translocator homolog | Zawsze | W 1 chorobie |
| RNF2ring finger protein 2 | Zawsze | W 1 chorobie |
| RNU6ATACRNA, U6atac small nuclear | Zawsze | W 1 chorobie |
| SASS6SAS-6 centriolar assembly protein | Zawsze | W 2 chorobach |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Zawsze | W 1 chorobie |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Zawsze | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 2 chorobach |
| SEMA6Bsemaphorin 6B | Zawsze | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Zawsze | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Zawsze | W 1 chorobie |
| SLC35C1solute carrier family 35 member C1 | Zawsze | W 2 chorobach |
| SLC6A17solute carrier family 6 member 17 | Zawsze | W 2 chorobach |
| SOBPsine oculis binding protein homolog | Zawsze | W 1 chorobie |
| SONSON DNA and RNA binding protein | Zawsze | W 2 chorobach |
| SPTBN4spectrin beta, non-erythrocytic 4 | Zawsze | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Zawsze | W 1 chorobie |
| STILSTIL centriolar assembly protein | Zawsze | W 2 chorobach |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Zawsze | W 1 chorobie |
| SUOXsulfite oxidase | Zawsze | W 1 chorobie |
| TBC1D23TBC1 domain family member 23 | Zawsze | W 1 chorobie |
| TBR1T-box brain transcription factor 1 | Zawsze | W 1 chorobie |
| TCF4transcription factor 4 | Zawsze | W 1 chorobie |
| TFE3transcription factor binding to IGHM enhancer 3 | Zawsze | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Zawsze | W 2 chorobach |
| TMX2thioredoxin related transmembrane protein 2 | Zawsze | W 1 chorobie |
| TPRtranslocated promoter region, nuclear basket protein | Zawsze | W 1 chorobie |
| TRAPPC10trafficking protein particle complex subunit 10 | Zawsze | W 2 chorobach |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Zawsze | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Zawsze | W 1 chorobie |
| TTI2TELO2 interacting protein 2 | Zawsze | W 2 chorobach |
| TUSC3tumor suppressor candidate 3 | Zawsze | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Zawsze | W 2 chorobach |
| UBE3Bubiquitin protein ligase E3B | Zawsze | W 1 chorobie |
| UBE3Cubiquitin protein ligase E3C | Zawsze | W 1 chorobie |
| UBE4Aubiquitination factor E4A | Zawsze | W 1 chorobie |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 2 chorobach |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Zawsze | W 1 chorobie |
| VPS4Avacuolar protein sorting 4 homolog A | Zawsze | W 1 chorobie |
| WASF1WASP family member 1 | Zawsze | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| ZBTB18zinc finger and BTB domain containing 18 | Zawsze | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Zawsze | W 1 chorobie |
| ACSL4acyl-CoA synthetase long chain family member 4 | Bardzo często (80–99%) | W 1 chorobie |
| ADCY5adenylate cyclase 5 | Bardzo często (80–99%) | W 1 chorobie |
| AMMECR1AMMECR nuclear protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| ARG1arginase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ASPMassembly factor for spindle microtubules | Bardzo często (80–99%) | W 1 chorobie |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Bardzo często (80–99%) | W 1 chorobie |
| BCKDKbranched chain keto acid dehydrogenase kinase | Bardzo często (80–99%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Bardzo często (80–99%) | W 1 chorobie |
| CCND2cyclin D2 | Bardzo często (80–99%) | W 1 chorobie |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| CDK6cyclin dependent kinase 6 | Bardzo często (80–99%) | W 1 chorobie |
| CENPEcentromere protein E | Bardzo często (80–99%) | W 1 chorobie |
| CEP152centrosomal protein 152 | Bardzo często (80–99%) | W 1 chorobie |
| CEP85Lcentrosomal protein 85L | Bardzo często (80–99%) | W 1 chorobie |
| CITcitron rho-interacting serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| COPB2coat protein complex I subunit beta 2 | Bardzo często (80–99%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Bardzo często (80–99%) | W 1 chorobie |
| CPLX1complexin 1 | Bardzo często (80–99%) | W 2 chorobach |
| CTBP1C-terminal binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| CTNND2catenin delta 2 | Bardzo często (80–99%) | W 1 chorobie |
| CUL4Bcullin 4B | Bardzo często (80–99%) | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Bardzo często (80–99%) | W 1 chorobie |
| ERLIN2ER lipid raft associated 2 | Bardzo często (80–99%) | W 1 chorobie |
| FGFR3fibroblast growth factor receptor 3 | Bardzo często (80–99%) | W 2 chorobach |
| FKTNfukutin | Bardzo często (80–99%) | W 2 chorobach |
| FUCA1alpha-L-fucosidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Bardzo często (80–99%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Bardzo często (80–99%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 1 chorobie |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Bardzo często (80–99%) | W 1 chorobie |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Bardzo często (80–99%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Bardzo często (80–99%) | W 1 chorobie |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Bardzo często (80–99%) | W 1 chorobie |
| KIF14kinesin family member 14 | Bardzo często (80–99%) | W 2 chorobach |
| KIF7kinesin family member 7 | Bardzo często (80–99%) | W 2 chorobach |
| KNL1kinetochore scaffold 1 | Bardzo często (80–99%) | W 1 chorobie |
| L1CAML1 cell adhesion molecule | Bardzo często (80–99%) | W 1 chorobie |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Bardzo często (80–99%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| LMX1BLIM homeobox transcription factor 1 beta | Bardzo często (80–99%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Bardzo często (80–99%) | W 2 chorobach |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Bardzo często (80–99%) | W 1 chorobie |
| MCM7minichromosome maintenance complex component 7 | Bardzo często (80–99%) | W 1 chorobie |
| MCPH1microcephalin 1 | Bardzo często (80–99%) | W 1 chorobie |
| METTL5methyltransferase 5, N6-adenosine | Bardzo często (80–99%) | W 1 chorobie |
| MPDU1mannose-P-dolichol utilization defect 1 | Bardzo często (80–99%) | W 1 chorobie |
| NAGAalpha-N-acetylgalactosaminidase | Bardzo często (80–99%) | W 2 chorobach |
| NCAPD3non-SMC condensin II complex subunit D3 | Bardzo często (80–99%) | W 1 chorobie |
| NELFAnegative elongation factor complex member A | Bardzo często (80–99%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Bardzo często (80–99%) | W 1 chorobie |
| NSD2nuclear receptor binding SET domain protein 2 | Bardzo często (80–99%) | W 2 chorobach |
| NUP37nucleoporin 37 | Bardzo często (80–99%) | W 1 chorobie |
| PDCD6IPprogrammed cell death 6 interacting protein | Bardzo często (80–99%) | W 1 chorobie |
| PHC1polyhomeotic homolog 1 | Bardzo często (80–99%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Bardzo często (80–99%) | W 1 chorobie |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Bardzo często (80–99%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| PRUNE1prune exopolyphosphatase 1 | Bardzo często (80–99%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Bardzo często (80–99%) | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Bardzo często (80–99%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Bardzo często (80–99%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| ROGDIrogdi atypical leucine zipper | Bardzo często (80–99%) | W 2 chorobach |
| RPL10ribosomal protein L10 | Bardzo często (80–99%) | W 1 chorobie |
| SARS1seryl-tRNA synthetase 1 | Bardzo często (80–99%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Bardzo często (80–99%) | W 3 chorobach |
| SEMA5Asemaphorin 5A | Bardzo często (80–99%) | W 1 chorobie |
| SLC13A5solute carrier family 13 member 5 | Bardzo często (80–99%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Bardzo często (80–99%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Bardzo często (80–99%) | W 1 chorobie |
| SNX14sorting nexin 14 | Bardzo często (80–99%) | W 1 chorobie |
| STXBP1syntaxin binding protein 1 | Bardzo często (80–99%) | W 2 chorobach |
| TAF13TATA-box binding protein associated factor 13 | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 2 chorobach |
| TELO2telomere maintenance 2 | Bardzo często (80–99%) | W 1 chorobie |
| TRAPPC14trafficking protein particle complex subunit 14 | Bardzo często (80–99%) | W 1 chorobie |
| TRAPPC9trafficking protein particle complex subunit 9 | Bardzo często (80–99%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Bardzo często (80–99%) | W 1 chorobie |
| WARS1tryptophanyl-tRNA synthetase 1 | Bardzo często (80–99%) | W 1 chorobie |
| WDR62WD repeat domain 62 | Bardzo często (80–99%) | W 2 chorobach |
| ZNHIT3zinc finger HIT-type containing 3 | Bardzo często (80–99%) | W 1 chorobie |
| ADGRG1adhesion G protein-coupled receptor G1 | Często (30–79%) | W 1 chorobie |
| AFG2AAAA ATPase AFG2A | Często (30–79%) | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Często (30–79%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Często (30–79%) | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Często (30–79%) | W 2 chorobach |
| ASXL1ASXL transcriptional regulator 1 | Często (30–79%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Często (30–79%) | W 1 chorobie |
| ATP9AATPase phospholipid transporting 9A | Często (30–79%) | W 1 chorobie |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Często (30–79%) | W 1 chorobie |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Często (30–79%) | W 1 chorobie |
| CCNKcyclin K | Często (30–79%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Często (30–79%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Często (30–79%) | W 1 chorobie |
| COG5component of oligomeric golgi complex 5 | Często (30–79%) | W 1 chorobie |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| CUL3cullin 3 | Często (30–79%) | W 1 chorobie |
| DAG1dystroglycan 1 | Często (30–79%) | W 2 chorobach |
| DHX9DExH-box helicase 9 | Często (30–79%) | W 1 chorobie |
| DLATdihydrolipoamide S-acetyltransferase | Często (30–79%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Często (30–79%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Często (30–79%) | W 1 chorobie |
| DYMdymeclin | Często (30–79%) | W 1 chorobie |
| FOXE1forkhead box E1 | Często (30–79%) | W 1 chorobie |
| FOXP1forkhead box P1 | Często (30–79%) | W 1 chorobie |
| FRMD4AFERM domain containing 4A | Często (30–79%) | W 1 chorobie |
| FZR1fizzy and cell division cycle 20 related 1 | Często (30–79%) | W 1 chorobie |
| GNB5G protein subunit beta 5 | Często (30–79%) | W 1 chorobie |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Często (30–79%) | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 2 chorobach |
| INPP5Einositol polyphosphate-5-phosphatase E | Często (30–79%) | W 1 chorobie |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Często (30–79%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Często (30–79%) | W 1 chorobie |
| MAB21L1mab-21 like 1 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Często (30–79%) | W 1 chorobie |
| NKX2-1NK2 homeobox 1 | Często (30–79%) | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Często (30–79%) | W 3 chorobach |
| OCA2OCA2 melanosomal transmembrane protein | Często (30–79%) | W 1 chorobie |
| OPHN1oligophrenin 1 | Często (30–79%) | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Często (30–79%) | W 1 chorobie |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Często (30–79%) | W 1 chorobie |
| PAX8paired box 8 | Często (30–79%) | W 3 chorobach |
| PEX7peroxisomal biogenesis factor 7 | Często (30–79%) | W 1 chorobie |
| PHYHphytanoyl-CoA 2-hydroxylase | Często (30–79%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Często (30–79%) | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Często (30–79%) | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Często (30–79%) | W 1 chorobie |
| PURApurine rich element binding protein A | Często (30–79%) | W 1 chorobie |
| PUS3pseudouridine synthase 3 | Często (30–79%) | W 1 chorobie |
| RBMXRNA binding motif protein X-linked | Często (30–79%) | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Często (30–79%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Często (30–79%) | W 1 chorobie |
| RTTNrotatin | Często (30–79%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Często (30–79%) | W 1 chorobie |
| SHMT2serine hydroxymethyltransferase 2 | Często (30–79%) | W 1 chorobie |
| SHROOM4shroom family member 4 | Często (30–79%) | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Często (30–79%) | W 1 chorobie |
| SLC25A15solute carrier family 25 member 15 | Często (30–79%) | W 1 chorobie |
| SLC26A4solute carrier family 26 member 4 | Często (30–79%) | W 2 chorobach |
| SLC2A1solute carrier family 2 member 1 | Często (30–79%) | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Często (30–79%) | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Często (30–79%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Często (30–79%) | W 1 chorobie |
| SMOC1SPARC related modular calcium binding 1 | Często (30–79%) | W 1 chorobie |
| SOX11SRY-box transcription factor 11 | Często (30–79%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Często (30–79%) | W 1 chorobie |
| THOC6THO complex subunit 6 | Często (30–79%) | W 1 chorobie |
| TOR1Atorsin family 1 member A | Często (30–79%) | W 1 chorobie |
| TSHRthyroid stimulating hormone receptor | Często (30–79%) | W 2 chorobach |
| UBE2Aubiquitin conjugating enzyme E2 A | Często (30–79%) | W 1 chorobie |
| UBTFupstream binding transcription factor | Często (30–79%) | W 1 chorobie |
| WBP4WW domain binding protein 4 | Często (30–79%) | W 1 chorobie |
| ZNF407zinc finger protein 407 | Często (30–79%) | W 1 chorobie |
| ZSCAN10zinc finger and SCAN domain containing 10 | Często (30–79%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| AKT3AKT serine/threonine kinase 3 | Czasami (5–29%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 1 chorobie |
| CA2carbonic anhydrase 2 | Czasami (5–29%) | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Czasami (5–29%) | W 1 chorobie |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Czasami (5–29%) | W 1 chorobie |
| CYB5Acytochrome b5 type A | Czasami (5–29%) | W 1 chorobie |
| CYB5R3cytochrome b5 reductase 3 | Czasami (5–29%) | W 1 chorobie |
| DCHS1dachsous cadherin-related 1 | Czasami (5–29%) | W 1 chorobie |
| DNMT3ADNA methyltransferase 3 alpha | Czasami (5–29%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| FAT4FAT atypical cadherin 4 | Czasami (5–29%) | W 1 chorobie |
| FKRPfukutin related protein | Czasami (5–29%) | W 2 chorobach |
| FTCDformimidoyltransferase cyclodeaminase | Czasami (5–29%) | W 1 chorobie |
| GCKglucokinase | Czasami (5–29%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Czasami (5–29%) | W 1 chorobie |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Czasami (5–29%) | W 1 chorobie |
| HPD4-hydroxyphenylpyruvate dioxygenase | Czasami (5–29%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Czasami (5–29%) | W 1 chorobie |
| INSinsulin | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KLF13KLF transcription factor 13 | Czasami (5–29%) | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| MAN1B1mannosidase alpha class 1B member 1 | Czasami (5–29%) | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Czasami (5–29%) | W 1 chorobie |
| MYT1Lmyelin transcription factor 1 like | Czasami (5–29%) | W 1 chorobie |
| NAV3neuron navigator 3 | Czasami (5–29%) | W 1 chorobie |
| NFIXnuclear factor I X | Czasami (5–29%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Czasami (5–29%) | W 1 chorobie |
| PCDH19protocadherin 19 | Czasami (5–29%) | W 1 chorobie |
| PCNAproliferating cell nuclear antigen | Czasami (5–29%) | W 1 chorobie |
| PDHXpyruvate dehydrogenase complex component X | Czasami (5–29%) | W 1 chorobie |
| PDX1pancreatic and duodenal homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Czasami (5–29%) | W 1 chorobie |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Czasami (5–29%) | W 1 chorobie |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Czasami (5–29%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Czasami (5–29%) | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Czasami (5–29%) | W 2 chorobach |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Czasami (5–29%) | W 1 chorobie |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Czasami (5–29%) | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Czasami (5–29%) | W 1 chorobie |
| POGZpogo transposable element derived with ZNF domain | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 2 chorobach |
| SATB1SATB homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| SLC35A3solute carrier family 35 member A3 | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 1 chorobie |
| SRPK3SRSF protein kinase 3 | Czasami (5–29%) | W 1 chorobie |
| STAG1STAG1 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Czasami (5–29%) | W 1 chorobie |
| THOC2THO complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| TMEM163transmembrane protein 163 | Czasami (5–29%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| YY1YY1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| ACAT1acetyl-CoA acetyltransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| NEU1neuraminidase 1 | Rzadko (1–4%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nie odnotowano | W 1 chorobie |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Nie odnotowano | W 1 chorobie |
| ATRXATRX chromatin remodeler | Nie odnotowano | W 1 chorobie |
| DMPKDM1 protein kinase | Nie odnotowano | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nie odnotowano | W 1 chorobie |
| FGFRL1fibroblast growth factor receptor like 1 | Nie odnotowano | W 1 chorobie |
| HNMThistamine N-methyltransferase | Nie odnotowano | W 1 chorobie |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Nie odnotowano | W 1 chorobie |
| NANSN-acetylneuraminate synthase | Nie odnotowano | W 1 chorobie |
| NRXN1neurexin 1 | Nie odnotowano | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nie odnotowano | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Nie odnotowano | W 1 chorobie |
| PHF6PHD finger protein 6 | Nie odnotowano | W 1 chorobie |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Nie odnotowano | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Nie odnotowano | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nie odnotowano | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Nie odnotowano | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Nie odnotowano | W 1 chorobie |
| SNAP29synaptosome associated protein 29 | Nie odnotowano | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Nie odnotowano | W 1 chorobie |
| TMEM107transmembrane protein 107 | Nie odnotowano | W 1 chorobie |
| TMEM237transmembrane protein 237 | Nie odnotowano | W 1 chorobie |
| TSHBthyroid stimulating hormone subunit beta | Nie odnotowano | W 1 chorobie |
| TUBA1Atubulin alpha 1a | Nie odnotowano | W 1 chorobie |
| WDR81WD repeat domain 81 | Nie odnotowano | W 1 chorobie |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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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