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Egenskap
Intellectual disability, severe
Klinisk navn: 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.
Sammendrag
- Kroppssystem
- Abnormality of the nervous system
Intellectual disability, severeHP:0010864
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Read the genes linked to Intellectual disability, severe, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test413 gener knyttet til Intellectual disability, severe
Endringer i disse genene forårsaker sjeldne tilstander der Intellectual disability, severe forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACER3alkaline ceramidase 3 | Alltid | I 1 tilstand |
| ACO2aconitase 2 | Alltid | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Alltid | I 2 tilstander |
| ACTL6Bactin like 6B | Alltid | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Alltid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alltid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| AMTaminomethyltransferase | Alltid | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Alltid | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Alltid | I 2 tilstander |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Alltid | I 2 tilstander |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Alltid | I 2 tilstander |
| APC2APC regulator of Wnt signaling pathway 2 | Alltid | I 2 tilstander |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Alltid | I 1 tilstand |
| ARXaristaless related homeobox | Alltid | I 3 tilstander |
| ATP6V0CATPase H+ transporting V0 subunit c | Alltid | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Alltid | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Alltid | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Alltid | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Alltid | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Alltid | I 1 tilstand |
| CC2D1Acoiled-coil and C2 domain containing 1A | Alltid | I 1 tilstand |
| CDC40cell division cycle 40 | Alltid | I 1 tilstand |
| CEP135centrosomal protein 135 | Alltid | I 2 tilstander |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Alltid | I 1 tilstand |
| CRBNcereblon | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Alltid | I 1 tilstand |
| CTSDcathepsin D | Alltid | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Alltid | I 1 tilstand |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Alltid | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
Vis 373 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| EML1EMAP like 1 | Alltid | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Alltid | I 1 tilstand |
| FCSKfucose kinase | Alltid | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| FOXG1forkhead box G1 | Alltid | I 2 tilstander |
| FRRS1Lferric chelate reductase 1 like | Alltid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alltid | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alltid | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Alltid | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Alltid | I 2 tilstander |
| GATAD2BGATA zinc finger domain containing 2B | Alltid | I 2 tilstander |
| GDI1GDP dissociation inhibitor 1 | Alltid | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Alltid | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Alltid | I 1 tilstand |
| GOT2glutamic-oxaloacetic transaminase 2 | Alltid | I 1 tilstand |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Alltid | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alltid | I 2 tilstander |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 3 tilstander |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Alltid | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alltid | I 1 tilstand |
| HTThuntingtin | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KAT5lysine acetyltransferase 5 | Alltid | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Alltid | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Alltid | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Alltid | I 3 tilstander |
| KDM5Clysine demethylase 5C | Alltid | I 2 tilstander |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Alltid | I 1 tilstand |
| KIF5Ckinesin family member 5C | Alltid | I 1 tilstand |
| KLC4kinesin light chain 4 | Alltid | I 1 tilstand |
| KLHL20kelch like family member 20 | Alltid | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Alltid | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Alltid | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Alltid | I 2 tilstander |
| LINGO1leucine rich repeat and Ig domain containing 1 | Alltid | I 1 tilstand |
| LMAN2Llectin, mannose binding 2 like | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tilstand |
| MACF1microtubule actin crosslinking factor 1 | Alltid | I 2 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Alltid | I 2 tilstander |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 5 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Alltid | I 2 tilstander |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Alltid | I 2 tilstander |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Alltid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Alltid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Alltid | I 1 tilstand |
| NINninein | Alltid | I 2 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Alltid | I 2 tilstander |
| OTUD6BOTU deubiquitinase 6B | Alltid | I 2 tilstander |
| P4HTMprolyl 4-hydroxylase, transmembrane | Alltid | I 1 tilstand |
| PAK1p21 (RAC1) activated kinase 1 | Alltid | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Alltid | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Alltid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Alltid | I 2 tilstander |
| PGBD5piggyBac transposable element derived 5 | Alltid | I 1 tilstand |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Alltid | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Alltid | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Alltid | I 3 tilstander |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 4 tilstander |
| PPIL1peptidylprolyl isomerase like 1 | Alltid | I 1 tilstand |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Alltid | I 1 tilstand |
| PRSS12serine protease 12 | Alltid | I 1 tilstand |
| PSMB1proteasome 20S subunit beta 1 | Alltid | I 1 tilstand |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Alltid | I 2 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 3 tilstander |
| RAB5IFRAB5 interacting factor | Alltid | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Alltid | I 1 tilstand |
| RNF2ring finger protein 2 | Alltid | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Alltid | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Alltid | I 2 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alltid | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Alltid | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Alltid | I 2 tilstander |
| SEMA6Bsemaphorin 6B | Alltid | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Alltid | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Alltid | I 1 tilstand |
| SLC35C1solute carrier family 35 member C1 | Alltid | I 2 tilstander |
| SLC6A17solute carrier family 6 member 17 | Alltid | I 2 tilstander |
| SOBPsine oculis binding protein homolog | Alltid | I 1 tilstand |
| SONSON DNA and RNA binding protein | Alltid | I 2 tilstander |
| SPTBN4spectrin beta, non-erythrocytic 4 | Alltid | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Alltid | I 1 tilstand |
| STILSTIL centriolar assembly protein | Alltid | I 2 tilstander |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Alltid | I 1 tilstand |
| SUOXsulfite oxidase | Alltid | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Alltid | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Alltid | I 1 tilstand |
| TCF4transcription factor 4 | Alltid | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Alltid | I 1 tilstand |
| TIMM50translocase of inner mitochondrial membrane 50 | Alltid | I 2 tilstander |
| TMX2thioredoxin related transmembrane protein 2 | Alltid | I 1 tilstand |
| TPRtranslocated promoter region, nuclear basket protein | Alltid | I 1 tilstand |
| TRAPPC10trafficking protein particle complex subunit 10 | Alltid | I 2 tilstander |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Alltid | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Alltid | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Alltid | I 2 tilstander |
| TUSC3tumor suppressor candidate 3 | Alltid | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Alltid | I 2 tilstander |
| UBE3Bubiquitin protein ligase E3B | Alltid | I 1 tilstand |
| UBE3Cubiquitin protein ligase E3C | Alltid | I 1 tilstand |
| UBE4Aubiquitination factor E4A | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 2 tilstander |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Alltid | I 1 tilstand |
| WASF1WASP family member 1 | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Alltid | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Alltid | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Svært ofte (80–99 %) | I 1 tilstand |
| AMMECR1AMMECR nuclear protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ARG1arginase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Svært ofte (80–99 %) | I 1 tilstand |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Svært ofte (80–99 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CCND2cyclin D2 | Svært ofte (80–99 %) | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CENPEcentromere protein E | Svært ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Svært ofte (80–99 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| COPB2coat protein complex I subunit beta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTNND2catenin delta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CUL4Bcullin 4B | Svært ofte (80–99 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Svært ofte (80–99 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| FKTNfukutin | Svært ofte (80–99 %) | I 2 tilstander |
| FUCA1alpha-L-fucosidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Svært ofte (80–99 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Svært ofte (80–99 %) | I 2 tilstander |
| KIF7kinesin family member 7 | Svært ofte (80–99 %) | I 2 tilstander |
| KNL1kinetochore scaffold 1 | Svært ofte (80–99 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Svært ofte (80–99 %) | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LMX1BLIM homeobox transcription factor 1 beta | Svært ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Svært ofte (80–99 %) | I 2 tilstander |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MCM7minichromosome maintenance complex component 7 | Svært ofte (80–99 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| METTL5methyltransferase 5, N6-adenosine | Svært ofte (80–99 %) | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Svært ofte (80–99 %) | I 2 tilstander |
| NCAPD3non-SMC condensin II complex subunit D3 | Svært ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| NUP37nucleoporin 37 | Svært ofte (80–99 %) | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Svært ofte (80–99 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Svært ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PRUNE1prune exopolyphosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Svært ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Svært ofte (80–99 %) | I 2 tilstander |
| RPL10ribosomal protein L10 | Svært ofte (80–99 %) | I 1 tilstand |
| SARS1seryl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SEMA5Asemaphorin 5A | Svært ofte (80–99 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Svært ofte (80–99 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TAF13TATA-box binding protein associated factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Svært ofte (80–99 %) | I 2 tilstander |
| TELO2telomere maintenance 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Svært ofte (80–99 %) | I 1 tilstand |
| TRAPPC9trafficking protein particle complex subunit 9 | Svært ofte (80–99 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Svært ofte (80–99 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Svært ofte (80–99 %) | I 2 tilstander |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Ofte (30–79 %) | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Ofte (30–79 %) | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Ofte (30–79 %) | I 1 tilstand |
| CCNKcyclin K | Ofte (30–79 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Ofte (30–79 %) | I 1 tilstand |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| CUL3cullin 3 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 2 tilstander |
| DHX9DExH-box helicase 9 | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DYMdymeclin | Ofte (30–79 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GNB5G protein subunit beta 5 | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstander |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Ofte (30–79 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Ofte (30–79 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 3 tilstander |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 1 tilstand |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PAX8paired box 8 | Ofte (30–79 %) | I 3 tilstander |
| PEX7peroxisomal biogenesis factor 7 | Ofte (30–79 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ofte (30–79 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Ofte (30–79 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RTTNrotatin | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| SHROOM4shroom family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A15solute carrier family 25 member 15 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A4solute carrier family 26 member 4 | Ofte (30–79 %) | I 2 tilstander |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| TOR1Atorsin family 1 member A | Ofte (30–79 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Ofte (30–79 %) | I 2 tilstander |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| ZNF407zinc finger protein 407 | Ofte (30–79 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Noen ganger (5–29 %) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 2 tilstander |
| FTCDformimidoyltransferase cyclodeaminase | Noen ganger (5–29 %) | I 1 tilstand |
| GCKglucokinase | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Noen ganger (5–29 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| INSinsulin | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| NAV3neuron navigator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Noen ganger (5–29 %) | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Noen ganger (5–29 %) | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Noen ganger (5–29 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 2 tilstander |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC35A3solute carrier family 35 member A3 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM163transmembrane protein 163 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| NEU1neuraminidase 1 | Sjelden (1–4%) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registrert | I 1 tilstand |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| DMPKDM1 protein kinase | Ikke registrert | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ikke registrert | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ikke registrert | I 1 tilstand |
| HNMThistamine N-methyltransferase | Ikke registrert | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registrert | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registrert | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registrert | I 1 tilstand |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Ikke registrert | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ikke registrert | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ikke registrert | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Ikke registrert | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ikke registrert | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registrert | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registrert | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ikke registrert | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ikke registrert | I 1 tilstand |
| WDR81WD repeat domain 81 | Ikke registrert | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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