Træk
Intellectual disability, mild
Klinisk navn: 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.
Resumé
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Bestil min Genome Test409 gener knyttet til Intellectual disability, mild
Ændringer i disse gener forårsager sjældne tilstande, hvor Intellectual disability, mild ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACTBactin beta | Altid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Altid | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Altid | I 1 tilstand |
| ATP6V0CATPase H+ transporting V0 subunit c | Altid | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Altid | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Altid | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Altid | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Altid | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Altid | I 1 tilstand |
| CACHD1cache domain containing 1 | Altid | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Altid | I 2 tilstande |
| CARS1cysteinyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Altid | I 1 tilstand |
| CDH11cadherin 11 | Altid | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Altid | I 1 tilstand |
| CRBNcereblon | Altid | I 1 tilstand |
| CSTF2cleavage stimulation factor subunit 2 | Altid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Altid | I 1 tilstand |
| DAP3death associated protein 3 | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 2 tilstande |
| DSTdystonin | Altid | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Altid | I 1 tilstand |
| EDC3enhancer of mRNA decapping 3 | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| EMC10ER membrane protein complex subunit 10 | Altid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| GTF2H4general transcription factor IIH subunit 4 | Altid | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Altid | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Altid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Altid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 2 tilstande |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Altid | I 1 tilstand |
| KLC4kinesin light chain 4 | Altid | I 1 tilstand |
| KLHL20kelch like family member 20 | Altid | I 1 tilstand |
Vis 369 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| LRRC7leucine rich repeat containing 7 | Altid | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Altid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Altid | I 2 tilstande |
| METTL23methyltransferase 23, arginine | Altid | I 1 tilstand |
| MIA3MIA SH3 domain ER export factor 3 | Altid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Altid | I 1 tilstand |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Altid | I 1 tilstand |
| MTSS2MTSS I-BAR domain containing 2 | Altid | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Altid | I 2 tilstande |
| NIT1nitrilase 1 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Altid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altid | I 1 tilstand |
| PHF8PHD finger protein 8 | Altid | I 2 tilstande |
| PITRM1pitrilysin metallopeptidase 1 | Altid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 2 tilstande |
| RAB3ARAB3A, member RAS oncogene family | Altid | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Altid | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Altid | I 2 tilstande |
| RC3H1ring finger and CCCH-type domains 1 | Altid | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Altid | I 2 tilstande |
| RPS6KA3ribosomal protein S6 kinase A3 | Altid | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Altid | I 1 tilstand |
| SELENOIselenoprotein I | Altid | I 2 tilstande |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SKOR2SKI family transcriptional corepressor 2 | Altid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Altid | I 1 tilstand |
| SLC25A36solute carrier family 25 member 36 | Altid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Altid | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Altid | I 1 tilstand |
| SPARTspartin | Altid | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Altid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Altid | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Altid | I 1 tilstand |
| TCF20transcription factor 20 | Altid | I 1 tilstand |
| TCP1t-complex 1 | Altid | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Altid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Altid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ZMYND11zinc finger MYND-type containing 11 | Altid | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Meget ofte (80–99 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Meget ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Meget ofte (80–99 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Meget ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Meget ofte (80–99 %) | I 3 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| HMGA2high mobility group AT-hook 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Meget ofte (80–99 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| POLA1DNA polymerase alpha 1, catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Meget ofte (80–99 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAI1retinoic acid induced 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RTL1retrotransposon Gag like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Meget ofte (80–99 %) | I 2 tilstande |
| SIN3ASIN3 transcription regulator family member A | Meget ofte (80–99 %) | I 2 tilstande |
| SIN3BSIN3 transcription regulator family member B | Meget ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Meget ofte (80–99 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Meget ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Meget ofte (80–99 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Meget ofte (80–99 %) | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Meget ofte (80–99 %) | I 2 tilstande |
| AASSaminoadipate-semialdehyde synthase | Ofte (30–79 %) | I 2 tilstande |
| ABCA2ATP binding cassette subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| ACP5acid phosphatase 5, tartrate resistant | Ofte (30–79 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ofte (30–79 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Ofte (30–79 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Ofte (30–79 %) | I 1 tilstand |
| CD274CD274 molecule | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CSTBcystatin B | Ofte (30–79 %) | I 1 tilstand |
| CUL3cullin 3 | Ofte (30–79 %) | I 1 tilstand |
| DARS1aspartyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Ofte (30–79 %) | I 1 tilstand |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 1 tilstand |
| EXOSC2exosome component 2 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Ofte (30–79 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Ofte (30–79 %) | I 1 tilstand |
| GDI1GDP dissociation inhibitor 1 | Ofte (30–79 %) | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| GLRA2glycine receptor alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Ofte (30–79 %) | I 1 tilstand |
| GPSM2G protein signaling modulator 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Ofte (30–79 %) | I 1 tilstand |
| HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Ofte (30–79 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Ofte (30–79 %) | I 2 tilstande |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Ofte (30–79 %) | I 2 tilstande |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 4 tilstande |
| MAN1B1mannosidase alpha class 1B member 1 | Ofte (30–79 %) | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Ofte (30–79 %) | I 1 tilstand |
| MECOMMDS1 and EVI1 complex locus | Ofte (30–79 %) | I 1 tilstand |
| MGPmatrix Gla protein | Ofte (30–79 %) | I 2 tilstande |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NAV3neuron navigator 3 | Ofte (30–79 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 3 tilstande |
| NGFnerve growth factor | Ofte (30–79 %) | I 2 tilstande |
| NLGN4Xneuroligin 4 X-linked | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstande |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 3 tilstande |
| ORC1origin recognition complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PCNAproliferating cell nuclear antigen | Ofte (30–79 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 2 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Ofte (30–79 %) | I 1 tilstand |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| RCBTB1RCC1 and BTB domain containing protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RTN4IP1reticulon 4 interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 2 tilstande |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SFXN4sideroflexin 4 | Ofte (30–79 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Ofte (30–79 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ofte (30–79 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ofte (30–79 %) | I 2 tilstande |
| SLC35A3solute carrier family 35 member A3 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 4 tilstande |
| SPTBN2spectrin beta, non-erythrocytic 2 | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 1 tilstand |
| TBC1D2BTBC1 domain family member 2B | Ofte (30–79 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TKTtransketolase | Ofte (30–79 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ofte (30–79 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR48WD repeat domain 48 | Ofte (30–79 %) | I 1 tilstand |
| YY1YY1 transcription factor | Ofte (30–79 %) | I 1 tilstand |
| ZFRzinc finger RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ZNF341zinc finger protein 341 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Nogle gange (5–29 %) | I 2 tilstande |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| AMFRautocrine motility factor receptor | Nogle gange (5–29 %) | I 1 tilstand |
| ANK3ankyrin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ANO10anoctamin 10 | Nogle gange (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| BLMBLM RecQ like helicase | Nogle gange (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Nogle gange (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DYMdymeclin | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FGF14fibroblast growth factor 14 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GORABgolgin, RAB6 interacting | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Nogle gange (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Nogle gange (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| LEF1lymphoid enhancer binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 2 tilstande |
| LTBP2latent transforming growth factor beta binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Nogle gange (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Nogle gange (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 2 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Nogle gange (5–29 %) | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Nogle gange (5–29 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| THtyrosine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Nogle gange (5–29 %) | I 1 tilstand |
| TTNtitin | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Nogle gange (5–29 %) | I 1 tilstand |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Nogle gange (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Nogle gange (5–29 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Nogle gange (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Sjældent (1–4%) | I 1 tilstand |
| CABP4calcium binding protein 4 | Sjældent (1–4%) | I 1 tilstand |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Sjældent (1–4%) | I 1 tilstand |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Sjældent (1–4%) | I 1 tilstand |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Sjældent (1–4%) | I 1 tilstand |
| CRHcorticotropin releasing hormone | Sjældent (1–4%) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Sjældent (1–4%) | I 2 tilstande |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjældent (1–4%) | I 1 tilstand |
| DNAL4dynein axonemal light chain 4 | Sjældent (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjældent (1–4%) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Sjældent (1–4%) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sjældent (1–4%) | I 1 tilstand |
| NTN1netrin 1 | Sjældent (1–4%) | I 2 tilstande |
| PRRT2proline rich transmembrane protein 2 | Sjældent (1–4%) | I 1 tilstand |
| RAD51RAD51 recombinase | Sjældent (1–4%) | I 2 tilstande |
| STAC3SH3 and cysteine rich domain 3 | Sjældent (1–4%) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Ikke registreret | I 1 tilstand |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Ikke registreret | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Ikke registreret | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registreret | I 1 tilstand |
| DMDdystrophin | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ikke registreret | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Ikke registreret | I 1 tilstand |
| FLCNfolliculin | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Ikke registreret | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registreret | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Ikke registreret | I 1 tilstand |
| MSMO1methylsterol monooxygenase 1 | Ikke registreret | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registreret | I 1 tilstand |
| NFE2L2NFE2 like bZIP transcription factor 2 | Ikke registreret | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registreret | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Ikke registreret | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Ikke registreret | I 1 tilstand |
| SYN1synapsin I | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Ikke registreret | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Ikke registreret | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
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