Kenmerk
Intellectual disability, mild
Klinische naam: 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.
Samenvatting
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Intellectual disability, mild voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACTBactin beta | Altijd | In 1 aandoening |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altijd | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Altijd | In 1 aandoening |
| ATP13A2ATPase cation transporting 13A2 | Altijd | In 1 aandoening |
| ATP6V0CATPase H+ transporting V0 subunit c | Altijd | In 1 aandoening |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Altijd | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Altijd | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Altijd | In 1 aandoening |
| BRWD3bromodomain and WD repeat domain containing 3 | Altijd | In 1 aandoening |
| CA8carbonic anhydrase 8 (inactive) | Altijd | In 1 aandoening |
| CACHD1cache domain containing 1 | Altijd | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Altijd | In 2 aandoeningen |
| CARS1cysteinyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| CCT3chaperonin containing TCP1 subunit 3 | Altijd | In 1 aandoening |
| CDH11cadherin 11 | Altijd | In 1 aandoening |
| CDK6cyclin dependent kinase 6 | Altijd | In 1 aandoening |
| CRBNcereblon | Altijd | In 1 aandoening |
| CSTF2cleavage stimulation factor subunit 2 | Altijd | In 1 aandoening |
| CWF19L1CWF19 like cell cycle control factor 1 | Altijd | In 1 aandoening |
| DAP3death associated protein 3 | Altijd | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Altijd | In 2 aandoeningen |
| DSTdystonin | Altijd | In 1 aandoening |
| DSTYKdual serine/threonine and tyrosine protein kinase | Altijd | In 1 aandoening |
| EDC3enhancer of mRNA decapping 3 | Altijd | In 1 aandoening |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altijd | In 1 aandoening |
| EMC10ER membrane protein complex subunit 10 | Altijd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FLVCR1FLVCR choline and heme transporter 1 | Altijd | In 1 aandoening |
| GINS3GINS complex subunit 3 | Altijd | In 1 aandoening |
| GON4Lgon-4 like | Altijd | In 1 aandoening |
| GTF2H4general transcription factor IIH subunit 4 | Altijd | In 1 aandoening |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Altijd | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Altijd | In 1 aandoening |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 2 aandoeningen |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Altijd | In 1 aandoening |
| KLC4kinesin light chain 4 | Altijd | In 1 aandoening |
| KLHL20kelch like family member 20 | Altijd | In 1 aandoening |
Toon nog 369 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| MASP1MBL associated serine protease 1 | Altijd | In 1 aandoening |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Altijd | In 2 aandoeningen |
| METTL23methyltransferase 23, arginine | Altijd | In 1 aandoening |
| MIA3MIA SH3 domain ER export factor 3 | Altijd | In 1 aandoening |
| MMADHCmetabolism of cobalamin associated D | Altijd | In 1 aandoening |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Altijd | In 1 aandoening |
| MTSS2MTSS I-BAR domain containing 2 | Altijd | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Altijd | In 2 aandoeningen |
| NIT1nitrilase 1 | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 1 aandoening |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Altijd | In 1 aandoening |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altijd | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Altijd | In 1 aandoening |
| PHF8PHD finger protein 8 | Altijd | In 2 aandoeningen |
| PITRM1pitrilysin metallopeptidase 1 | Altijd | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 2 aandoeningen |
| RAB3ARAB3A, member RAS oncogene family | Altijd | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Altijd | In 1 aandoening |
| RARS1arginyl-tRNA synthetase 1 | Altijd | In 2 aandoeningen |
| RC3H1ring finger and CCCH-type domains 1 | Altijd | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Altijd | In 2 aandoeningen |
| RPS6KA3ribosomal protein S6 kinase A3 | Altijd | In 1 aandoening |
| RUBCNrubicon autophagy regulator | Altijd | In 1 aandoening |
| SELENOIselenoprotein I | Altijd | In 2 aandoeningen |
| SGSM3small G protein signaling modulator 3 | Altijd | In 1 aandoening |
| SKOR2SKI family transcriptional corepressor 2 | Altijd | In 1 aandoening |
| SLC18A2solute carrier family 18 member A2 | Altijd | In 1 aandoening |
| SLC25A36solute carrier family 25 member 36 | Altijd | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Altijd | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Altijd | In 1 aandoening |
| SPARTspartin | Altijd | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Altijd | In 1 aandoening |
| SUFUSUFU negative regulator of hedgehog signaling | Altijd | In 1 aandoening |
| TAF13TATA-box binding protein associated factor 13 | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TBC1D7TBC1 domain family member 7 | Altijd | In 1 aandoening |
| TCF20transcription factor 20 | Altijd | In 1 aandoening |
| TCP1t-complex 1 | Altijd | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Altijd | In 1 aandoening |
| TMEM63Ctransmembrane protein 63C | Altijd | In 1 aandoening |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Altijd | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| ZMYND11zinc finger MYND-type containing 11 | Altijd | In 1 aandoening |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Heel vaak (80–99%) | In 1 aandoening |
| ALX4ALX homeobox 4 | Heel vaak (80–99%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BPTFbromodomain PHD finger transcription factor | Heel vaak (80–99%) | In 1 aandoening |
| CPLX1complexin 1 | Heel vaak (80–99%) | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Heel vaak (80–99%) | In 1 aandoening |
| DCAF17DDB1 and CUL4 associated factor 17 | Heel vaak (80–99%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Heel vaak (80–99%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Heel vaak (80–99%) | In 1 aandoening |
| ERMARDER membrane associated RNA degradation | Heel vaak (80–99%) | In 1 aandoening |
| FLNAfilamin A | Heel vaak (80–99%) | In 3 aandoeningen |
| FMR1fragile X messenger ribonucleoprotein 1 | Heel vaak (80–99%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Heel vaak (80–99%) | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Heel vaak (80–99%) | In 2 aandoeningen |
| HMGA2high mobility group AT-hook 2 | Heel vaak (80–99%) | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| IGF1insulin like growth factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| LEMD3LEM domain containing 3 | Heel vaak (80–99%) | In 1 aandoening |
| MAN2B1mannosidase alpha class 2B member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| MEG3maternally expressed 3 | Heel vaak (80–99%) | In 1 aandoening |
| PLP1proteolipid protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| POLA1DNA polymerase alpha 1, catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Heel vaak (80–99%) | In 1 aandoening |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Heel vaak (80–99%) | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RTL1retrotransposon Gag like 1 | Heel vaak (80–99%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| SIN3ASIN3 transcription regulator family member A | Heel vaak (80–99%) | In 2 aandoeningen |
| SIN3BSIN3 transcription regulator family member B | Heel vaak (80–99%) | In 1 aandoening |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Heel vaak (80–99%) | In 1 aandoening |
| SRRM2serine/arginine repetitive matrix 2 | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Heel vaak (80–99%) | In 1 aandoening |
| WACWW domain containing adaptor with coiled-coil | Heel vaak (80–99%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Heel vaak (80–99%) | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Heel vaak (80–99%) | In 2 aandoeningen |
| AASSaminoadipate-semialdehyde synthase | Vaak (30–79%) | In 2 aandoeningen |
| ABCA2ATP binding cassette subfamily A member 2 | Vaak (30–79%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 2 aandoeningen |
| ACP5acid phosphatase 5, tartrate resistant | Vaak (30–79%) | In 1 aandoening |
| ADAMTSL2ADAMTS like 2 | Vaak (30–79%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Vaak (30–79%) | In 2 aandoeningen |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Vaak (30–79%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Vaak (30–79%) | In 1 aandoening |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Vaak (30–79%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Vaak (30–79%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Vaak (30–79%) | In 1 aandoening |
| ARXaristaless related homeobox | Vaak (30–79%) | In 1 aandoening |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Vaak (30–79%) | In 1 aandoening |
| ATP9AATPase phospholipid transporting 9A | Vaak (30–79%) | In 1 aandoening |
| BCORBCL6 corepressor | Vaak (30–79%) | In 1 aandoening |
| BRF1BRF1 general transcription factor IIIB subunit | Vaak (30–79%) | In 1 aandoening |
| CD274CD274 molecule | Vaak (30–79%) | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Vaak (30–79%) | In 1 aandoening |
| CSTBcystatin B | Vaak (30–79%) | In 1 aandoening |
| CUL3cullin 3 | Vaak (30–79%) | In 1 aandoening |
| DARS1aspartyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Vaak (30–79%) | In 1 aandoening |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Vaak (30–79%) | In 1 aandoening |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Vaak (30–79%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Vaak (30–79%) | In 1 aandoening |
| EXOSC2exosome component 2 | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Vaak (30–79%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Vaak (30–79%) | In 1 aandoening |
| FREM1FRAS1 related extracellular matrix 1 | Vaak (30–79%) | In 1 aandoening |
| GALTgalactose-1-phosphate uridylyltransferase | Vaak (30–79%) | In 1 aandoening |
| GDI1GDP dissociation inhibitor 1 | Vaak (30–79%) | In 1 aandoening |
| GLIS3GLIS family zinc finger 3 | Vaak (30–79%) | In 1 aandoening |
| GLRA2glycine receptor alpha 2 | Vaak (30–79%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 2 aandoeningen |
| GP1BBglycoprotein Ib platelet subunit beta | Vaak (30–79%) | In 1 aandoening |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Vaak (30–79%) | In 1 aandoening |
| GPSM2G protein signaling modulator 2 | Vaak (30–79%) | In 1 aandoening |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Vaak (30–79%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Vaak (30–79%) | In 1 aandoening |
| HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4 | Vaak (30–79%) | In 1 aandoening |
| HDAC6histone deacetylase 6 | Vaak (30–79%) | In 2 aandoeningen |
| HEATR3HEAT repeat containing 3 | Vaak (30–79%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Vaak (30–79%) | In 1 aandoening |
| HPD4-hydroxyphenylpyruvate dioxygenase | Vaak (30–79%) | In 2 aandoeningen |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Vaak (30–79%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Vaak (30–79%) | In 1 aandoening |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Vaak (30–79%) | In 1 aandoening |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Vaak (30–79%) | In 1 aandoening |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Vaak (30–79%) | In 1 aandoening |
| KDM2Blysine demethylase 2B | Vaak (30–79%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Vaak (30–79%) | In 1 aandoening |
| KIF11kinesin family member 11 | Vaak (30–79%) | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Vaak (30–79%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Vaak (30–79%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 4 aandoeningen |
| MAN1B1mannosidase alpha class 1B member 1 | Vaak (30–79%) | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Vaak (30–79%) | In 1 aandoening |
| MCM3APminichromosome maintenance complex component 3 associated protein | Vaak (30–79%) | In 1 aandoening |
| MECOMMDS1 and EVI1 complex locus | Vaak (30–79%) | In 1 aandoening |
| MGPmatrix Gla protein | Vaak (30–79%) | In 2 aandoeningen |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Vaak (30–79%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| NAV3neuron navigator 3 | Vaak (30–79%) | In 1 aandoening |
| NDNnecdin, MAGE family member | Vaak (30–79%) | In 3 aandoeningen |
| NGFnerve growth factor | Vaak (30–79%) | In 2 aandoeningen |
| NLGN4Xneuroligin 4 X-linked | Vaak (30–79%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| NUP54nucleoporin 54 | Vaak (30–79%) | In 1 aandoening |
| NUP62nucleoporin 62 | Vaak (30–79%) | In 1 aandoening |
| OCA2OCA2 melanosomal transmembrane protein | Vaak (30–79%) | In 3 aandoeningen |
| ORC1origin recognition complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| PCNAproliferating cell nuclear antigen | Vaak (30–79%) | In 1 aandoening |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 1 aandoening |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Vaak (30–79%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Vaak (30–79%) | In 2 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| POLR3BRNA polymerase III subunit B | Vaak (30–79%) | In 1 aandoening |
| POU3F4POU class 3 homeobox 4 | Vaak (30–79%) | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Vaak (30–79%) | In 2 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Vaak (30–79%) | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Vaak (30–79%) | In 1 aandoening |
| RCBTB1RCC1 and BTB domain containing protein 1 | Vaak (30–79%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| RSPRY1ring finger and SPRY domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| RTN4IP1reticulon 4 interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Vaak (30–79%) | In 1 aandoening |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Vaak (30–79%) | In 1 aandoening |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Vaak (30–79%) | In 1 aandoening |
| SFXN4sideroflexin 4 | Vaak (30–79%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| SKIC2SKI2 subunit of superkiller complex | Vaak (30–79%) | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Vaak (30–79%) | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Vaak (30–79%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Vaak (30–79%) | In 2 aandoeningen |
| SLC35A3solute carrier family 35 member A3 | Vaak (30–79%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Vaak (30–79%) | In 4 aandoeningen |
| SPTBN2spectrin beta, non-erythrocytic 2 | Vaak (30–79%) | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Vaak (30–79%) | In 1 aandoening |
| TBC1D2BTBC1 domain family member 2B | Vaak (30–79%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| THOC2THO complex subunit 2 | Vaak (30–79%) | In 1 aandoening |
| TKTtransketolase | Vaak (30–79%) | In 1 aandoening |
| UBE3Aubiquitin protein ligase E3A | Vaak (30–79%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Vaak (30–79%) | In 1 aandoening |
| VRK1VRK serine/threonine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| WDR48WD repeat domain 48 | Vaak (30–79%) | In 1 aandoening |
| YY1YY1 transcription factor | Vaak (30–79%) | In 1 aandoening |
| ZFRzinc finger RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Vaak (30–79%) | In 1 aandoening |
| ZNF341zinc finger protein 341 | Vaak (30–79%) | In 1 aandoening |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Soms (5–29%) | In 2 aandoeningen |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Soms (5–29%) | In 1 aandoening |
| AHDC1AT-hook DNA binding motif containing 1 | Soms (5–29%) | In 1 aandoening |
| ALADaminolevulinate dehydratase | Soms (5–29%) | In 1 aandoening |
| AMFRautocrine motility factor receptor | Soms (5–29%) | In 1 aandoening |
| ANK3ankyrin 3 | Soms (5–29%) | In 1 aandoening |
| ANO10anoctamin 10 | Soms (5–29%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Soms (5–29%) | In 1 aandoening |
| ATL1atlastin GTPase 1 | Soms (5–29%) | In 1 aandoening |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Soms (5–29%) | In 1 aandoening |
| BIN1bridging integrator 1 | Soms (5–29%) | In 2 aandoeningen |
| BLMBLM RecQ like helicase | Soms (5–29%) | In 1 aandoening |
| BMPR1Abone morphogenetic protein receptor type 1A | Soms (5–29%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Soms (5–29%) | In 1 aandoening |
| CEP57centrosomal protein 57 | Soms (5–29%) | In 1 aandoening |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Soms (5–29%) | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Soms (5–29%) | In 1 aandoening |
| CPAPcentrosome assembly and centriole elongation protein | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| DAG1dystroglycan 1 | Soms (5–29%) | In 1 aandoening |
| DCDC2doublecortin domain containing 2 | Soms (5–29%) | In 1 aandoening |
| DHX9DExH-box helicase 9 | Soms (5–29%) | In 1 aandoening |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Soms (5–29%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Soms (5–29%) | In 1 aandoening |
| DYMdymeclin | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 2 aandoeningen |
| FGF14fibroblast growth factor 14 | Soms (5–29%) | In 1 aandoening |
| FKRPfukutin related protein | Soms (5–29%) | In 1 aandoening |
| FOXP1forkhead box P1 | Soms (5–29%) | In 1 aandoening |
| FZD4frizzled class receptor 4 | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Soms (5–29%) | In 2 aandoeningen |
| GORABgolgin, RAB6 interacting | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Soms (5–29%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Soms (5–29%) | In 1 aandoening |
| GTPBP3GTP binding protein 3, mitochondrial | Soms (5–29%) | In 1 aandoening |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Soms (5–29%) | In 1 aandoening |
| IFT140intraflagellar transport 140 | Soms (5–29%) | In 1 aandoening |
| JAG1jagged canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| JAG2jagged canonical Notch ligand 2 | Soms (5–29%) | In 1 aandoening |
| KIF1Ckinesin family member 1C | Soms (5–29%) | In 1 aandoening |
| KLF13KLF transcription factor 13 | Soms (5–29%) | In 1 aandoening |
| LEF1lymphoid enhancer binding factor 1 | Soms (5–29%) | In 1 aandoening |
| LGI1leucine rich glioma inactivated 1 | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 2 aandoeningen |
| LTBP2latent transforming growth factor beta binding protein 2 | Soms (5–29%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Soms (5–29%) | In 1 aandoening |
| MID1midline 1 | Soms (5–29%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Soms (5–29%) | In 1 aandoening |
| MYT1Lmyelin transcription factor 1 like | Soms (5–29%) | In 1 aandoening |
| NDPnorrin cystine knot growth factor NDP | Soms (5–29%) | In 1 aandoening |
| NFIXnuclear factor I X | Soms (5–29%) | In 1 aandoening |
| NKX2-1NK2 homeobox 1 | Soms (5–29%) | In 1 aandoening |
| NTNG1netrin G1 | Soms (5–29%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| PCDH19protocadherin 19 | Soms (5–29%) | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Soms (5–29%) | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Soms (5–29%) | In 1 aandoening |
| POMKprotein O-mannose kinase | Soms (5–29%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| POMT2protein O-mannosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| PSMB8proteasome 20S subunit beta 8 | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 2 aandoeningen |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Soms (5–29%) | In 2 aandoeningen |
| PYCR1pyrroline-5-carboxylate reductase 1 | Soms (5–29%) | In 1 aandoening |
| RAB39BRAB39B, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Soms (5–29%) | In 1 aandoening |
| RNF135ring finger protein 135 | Soms (5–29%) | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| RPS6KC1ribosomal protein S6 kinase C1 | Soms (5–29%) | In 1 aandoening |
| RYR1ryanodine receptor 1 | Soms (5–29%) | In 1 aandoening |
| SARDHsarcosine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Soms (5–29%) | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Soms (5–29%) | In 1 aandoening |
| SLC29A3solute carrier family 29 member 3 | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SMSspermine synthase | Soms (5–29%) | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Soms (5–29%) | In 1 aandoening |
| SRYsex determining region Y | Soms (5–29%) | In 1 aandoening |
| TAC3tachykinin precursor 3 | Soms (5–29%) | In 1 aandoening |
| THtyrosine hydroxylase | Soms (5–29%) | In 1 aandoening |
| TRIM37tripartite motif containing 37 | Soms (5–29%) | In 1 aandoening |
| TSPAN12tetraspanin 12 | Soms (5–29%) | In 1 aandoening |
| TSPOAP1TSPO associated protein 1 | Soms (5–29%) | In 1 aandoening |
| TTC19tetratricopeptide repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| TTNtitin | Soms (5–29%) | In 1 aandoening |
| VPS13Dvacuolar protein sorting 13 homolog D | Soms (5–29%) | In 1 aandoening |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF408zinc finger protein 408 | Soms (5–29%) | In 1 aandoening |
| ZSCAN10zinc finger and SCAN domain containing 10 | Soms (5–29%) | In 1 aandoening |
| ACAT1acetyl-CoA acetyltransferase 1 | Zelden (1–4%) | In 1 aandoening |
| ACVR1activin A receptor type 1 | Zelden (1–4%) | In 1 aandoening |
| CABP4calcium binding protein 4 | Zelden (1–4%) | In 1 aandoening |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Zelden (1–4%) | In 1 aandoening |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Zelden (1–4%) | In 1 aandoening |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Zelden (1–4%) | In 1 aandoening |
| CRHcorticotropin releasing hormone | Zelden (1–4%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Zelden (1–4%) | In 2 aandoeningen |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Zelden (1–4%) | In 1 aandoening |
| DNAL4dynein axonemal light chain 4 | Zelden (1–4%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Zelden (1–4%) | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Zelden (1–4%) | In 1 aandoening |
| HINT1histidine triad nucleotide binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Zelden (1–4%) | In 1 aandoening |
| NTN1netrin 1 | Zelden (1–4%) | In 2 aandoeningen |
| PRRT2proline rich transmembrane protein 2 | Zelden (1–4%) | In 1 aandoening |
| RAD51RAD51 recombinase | Zelden (1–4%) | In 2 aandoeningen |
| STAC3SH3 and cysteine rich domain 3 | Zelden (1–4%) | In 1 aandoening |
| ARPC4actin related protein 2/3 complex subunit 4 | Niet vastgelegd | In 1 aandoening |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Niet vastgelegd | In 1 aandoening |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Niet vastgelegd | In 1 aandoening |
| C12orf57chromosome 12 open reading frame 57 | Niet vastgelegd | In 1 aandoening |
| CLCN4Cl-/H+ antiporter 4 | Niet vastgelegd | In 1 aandoening |
| DLATdihydrolipoamide S-acetyltransferase | Niet vastgelegd | In 1 aandoening |
| DMDdystrophin | Niet vastgelegd | In 1 aandoening |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Niet vastgelegd | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Niet vastgelegd | In 1 aandoening |
| FIBPFGF1 intracellular binding protein | Niet vastgelegd | In 1 aandoening |
| FLCNfolliculin | Niet vastgelegd | In 1 aandoening |
| GLB1galactosidase beta 1 | Niet vastgelegd | In 1 aandoening |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Niet vastgelegd | In 1 aandoening |
| HEPACAMhepatic and glial cell adhesion molecule | Niet vastgelegd | In 1 aandoening |
| MLC1modulator of VRAC current 1 | Niet vastgelegd | In 1 aandoening |
| MSMO1methylsterol monooxygenase 1 | Niet vastgelegd | In 1 aandoening |
| NF1neurofibromin 1 | Niet vastgelegd | In 1 aandoening |
| NFE2L2NFE2 like bZIP transcription factor 2 | Niet vastgelegd | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Niet vastgelegd | In 1 aandoening |
| SBDSSBDS ribosome maturation factor | Niet vastgelegd | In 1 aandoening |
| SOX3SRY-box transcription factor 3 | Niet vastgelegd | In 1 aandoening |
| SRP54signal recognition particle 54 | Niet vastgelegd | In 1 aandoening |
| SRPX2sushi repeat containing protein X-linked 2 | Niet vastgelegd | In 1 aandoening |
| SYN1synapsin I | Niet vastgelegd | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Niet vastgelegd | In 1 aandoening |
| TFAP2Btranscription factor AP-2 beta | Niet vastgelegd | In 1 aandoening |
| THG1LtRNA-histidine guanylyltransferase 1 like | Niet vastgelegd | In 1 aandoening |
| ZNF462zinc finger protein 462 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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