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Egenskap
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.
Sammendrag
- Kroppssystem
- Abnormality of the nervous system
Intellectual disability, mildHP:0001256
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Read the genes linked to Intellectual disability, mild, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test409 gener knyttet til Intellectual disability, mild
Endringer i disse genene forårsaker sjeldne tilstander der Intellectual disability, mild 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 |
|---|---|---|
| ACTBactin beta | Alltid | I 1 tilstand |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Alltid | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Alltid | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Alltid | I 1 tilstand |
| ATP6V0CATPase H+ transporting V0 subunit c | Alltid | I 1 tilstand |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Alltid | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Alltid | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Alltid | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Alltid | I 1 tilstand |
| CA8carbonic anhydrase 8 (inactive) | Alltid | I 1 tilstand |
| CACHD1cache domain containing 1 | Alltid | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Alltid | I 2 tilstander |
| CARS1cysteinyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CDH11cadherin 11 | Alltid | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Alltid | I 1 tilstand |
| CRBNcereblon | Alltid | I 1 tilstand |
| CSTF2cleavage stimulation factor subunit 2 | Alltid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Alltid | I 1 tilstand |
| DAP3death associated protein 3 | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 2 tilstander |
| DSTdystonin | Alltid | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Alltid | I 1 tilstand |
| EDC3enhancer of mRNA decapping 3 | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| EMC10ER membrane protein complex subunit 10 | Alltid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Alltid | I 1 tilstand |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| GTF2H4general transcription factor IIH subunit 4 | Alltid | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Alltid | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Alltid | I 1 tilstand |
| INTS11integrator complex subunit 11 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tilstander |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Alltid | I 1 tilstand |
| KLC4kinesin light chain 4 | Alltid | I 1 tilstand |
| KLHL20kelch like family member 20 | Alltid | I 1 tilstand |
Vis 369 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Alltid | I 1 tilstand |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 2 tilstander |
| METTL23methyltransferase 23, arginine | Alltid | I 1 tilstand |
| MIA3MIA SH3 domain ER export factor 3 | Alltid | I 1 tilstand |
| MMADHCmetabolism of cobalamin associated D | Alltid | I 1 tilstand |
| MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 | Alltid | I 1 tilstand |
| MTSS2MTSS I-BAR domain containing 2 | Alltid | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Alltid | I 2 tilstander |
| NIT1nitrilase 1 | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Alltid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Alltid | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Alltid | I 1 tilstand |
| PHF8PHD finger protein 8 | Alltid | I 2 tilstander |
| PITRM1pitrilysin metallopeptidase 1 | Alltid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alltid | I 2 tilstander |
| RAB3ARAB3A, member RAS oncogene family | Alltid | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Alltid | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| RC3H1ring finger and CCCH-type domains 1 | Alltid | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Alltid | I 2 tilstander |
| RPS6KA3ribosomal protein S6 kinase A3 | Alltid | I 1 tilstand |
| RUBCNrubicon autophagy regulator | Alltid | I 1 tilstand |
| SELENOIselenoprotein I | Alltid | I 2 tilstander |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| SKOR2SKI family transcriptional corepressor 2 | Alltid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 1 tilstand |
| SLC25A36solute carrier family 25 member 36 | Alltid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Alltid | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Alltid | I 1 tilstand |
| SPARTspartin | Alltid | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Alltid | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Alltid | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Alltid | I 1 tilstand |
| TCF20transcription factor 20 | Alltid | I 1 tilstand |
| TCP1t-complex 1 | Alltid | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Alltid | I 1 tilstand |
| TMEM63Ctransmembrane protein 63C | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZMYND11zinc finger MYND-type containing 11 | Alltid | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Svært ofte (80–99 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Svært ofte (80–99 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Svært ofte (80–99 %) | I 1 tilstand |
| FLNAfilamin A | Svært ofte (80–99 %) | I 3 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| HMGA2high mobility group AT-hook 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MEG3maternally expressed 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| POLA1DNA polymerase alpha 1, catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Svært ofte (80–99 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RTL1retrotransposon Gag like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Svært ofte (80–99 %) | I 2 tilstander |
| SIN3ASIN3 transcription regulator family member A | Svært ofte (80–99 %) | I 2 tilstander |
| SIN3BSIN3 transcription regulator family member B | Svært ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Svært ofte (80–99 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Svært ofte (80–99 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Svært ofte (80–99 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Svært ofte (80–99 %) | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Svært ofte (80–99 %) | I 2 tilstander |
| AASSaminoadipate-semialdehyde synthase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NGFnerve growth factor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SLC35A3solute carrier family 35 member A3 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 4 tilstander |
| 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 | Noen ganger (5–29 %) | I 2 tilstander |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| AMFRautocrine motility factor receptor | Noen ganger (5–29 %) | I 1 tilstand |
| ANK3ankyrin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ANO10anoctamin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BLMBLM RecQ like helicase | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| DYMdymeclin | Noen ganger (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FGF14fibroblast growth factor 14 | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 2 tilstander |
| GORABgolgin, RAB6 interacting | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Noen ganger (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Noen ganger (5–29 %) | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KLF13KLF transcription factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| LEF1lymphoid enhancer binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 2 tilstander |
| LTBP2latent transforming growth factor beta binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Noen ganger (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Noen ganger (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Noen ganger (5–29 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 2 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Noen ganger (5–29 %) | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SARDHsarcosine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| THtyrosine hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Noen ganger (5–29 %) | I 1 tilstand |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Noen ganger (5–29 %) | I 1 tilstand |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF408zinc finger protein 408 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| ACVR1activin A receptor type 1 | Sjelden (1–4%) | I 1 tilstand |
| CABP4calcium binding protein 4 | Sjelden (1–4%) | I 1 tilstand |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Sjelden (1–4%) | I 1 tilstand |
| CHRNA4cholinergic receptor nicotinic alpha 4 subunit | Sjelden (1–4%) | I 1 tilstand |
| CHRNB2cholinergic receptor nicotinic beta 2 subunit | Sjelden (1–4%) | I 1 tilstand |
| CRHcorticotropin releasing hormone | Sjelden (1–4%) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Sjelden (1–4%) | I 2 tilstander |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sjelden (1–4%) | I 1 tilstand |
| DNAL4dynein axonemal light chain 4 | Sjelden (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjelden (1–4%) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Sjelden (1–4%) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Sjelden (1–4%) | I 1 tilstand |
| NTN1netrin 1 | Sjelden (1–4%) | I 2 tilstander |
| PRRT2proline rich transmembrane protein 2 | Sjelden (1–4%) | I 1 tilstand |
| RAD51RAD51 recombinase | Sjelden (1–4%) | I 2 tilstander |
| STAC3SH3 and cysteine rich domain 3 | Sjelden (1–4%) | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Ikke registrert | I 1 tilstand |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Ikke registrert | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ikke registrert | I 1 tilstand |
| DMDdystrophin | Ikke registrert | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registrert | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ikke registrert | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Ikke registrert | I 1 tilstand |
| FLCNfolliculin | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Ikke registrert | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Ikke registrert | I 1 tilstand |
| MLC1modulator of VRAC current 1 | Ikke registrert | I 1 tilstand |
| MSMO1methylsterol monooxygenase 1 | Ikke registrert | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registrert | I 1 tilstand |
| NFE2L2NFE2 like bZIP transcription factor 2 | Ikke registrert | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registrert | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Ikke registrert | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Ikke registrert | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registrert | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Ikke registrert | I 1 tilstand |
| SYN1synapsin I | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TFAP2Btranscription factor AP-2 beta | Ikke registrert | I 1 tilstand |
| THG1LtRNA-histidine guanylyltransferase 1 like | Ikke registrert | I 1 tilstand |
| ZNF462zinc finger protein 462 | 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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