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Požymis

Intellectual disability, severe

Klinikinis pavadinimas: Severe intellectual disability

Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.

HPO HP:0010864

Santrauka

Kūno sistema
Abnormality of the nervous system

142 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

Show 138 more reports

Every condition report

Vienu tyrimu sužinokite genus, susijusius su Intellectual disability, severe, ir kitą jūsų genomo dalį.

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413 genų susiję su Intellectual disability, severe

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Intellectual disability, severe. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
ACER3alkaline ceramidase 3Visada1 ligoje
ACO2aconitase 2Visada1 ligoje
ACOX1acyl-CoA oxidase 1Visada2 ligose
ACTL6Bactin like 6BVisada1 ligoje
AHSGalpha 2-HS glycoproteinVisada1 ligoje
ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitVisada1 ligoje
ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunitVisada1 ligoje
ALG2ALG2 alpha-1,3/1,6-mannosyltransferaseVisada1 ligoje
AMOTL1angiomotin like 1Visada1 ligoje
AMTaminomethyltransferaseVisada1 ligoje
AP4B1adaptor related protein complex 4 subunit beta 1Visada2 ligose
AP4E1adaptor related protein complex 4 subunit epsilon 1Visada2 ligose
AP4M1adaptor related protein complex 4 subunit mu 1Visada2 ligose
AP4S1adaptor related protein complex 4 subunit sigma 1Visada2 ligose
APC2APC regulator of Wnt signaling pathway 2Visada2 ligose
ARHGEF9Cdc42 guanine nucleotide exchange factor 9Visada1 ligoje
ARXaristaless related homeoboxVisada3 ligose
ATP6V0CATPase H+ transporting V0 subunit cVisada1 ligoje
BCAP31B cell receptor associated protein 31Visada1 ligoje
BCAS3BCAS3 microtubule associated cell migration factorVisada1 ligoje
BCORL1BCL6 corepressor like 1Visada1 ligoje
BRAFB-Raf proto-oncogene, serine/threonine kinaseVisada1 ligoje
C2CD3C2 domain containing 3 centriole elongation regulatorVisada1 ligoje
CAMK2Acalcium/calmodulin dependent protein kinase II alphaVisada1 ligoje
CAMK2Gcalcium/calmodulin dependent protein kinase II gammaVisada1 ligoje
CC2D1Acoiled-coil and C2 domain containing 1AVisada1 ligoje
CDC40cell division cycle 40Visada1 ligoje
CEP135centrosomal protein 135Visada2 ligose
CHASERRCHD2 adjacent suppressive regulatory RNAVisada1 ligoje
COPB1coat protein complex I subunit beta 1Visada1 ligoje
CRBNcereblonVisada1 ligoje
CRNKL1crooked neck pre-mRNA splicing factor 1Visada1 ligoje
CTNNA2catenin alpha 2Visada1 ligoje
CTSDcathepsin DVisada1 ligoje
DPYSL5dihydropyrimidinase like 5Visada1 ligoje
DYNC1I2dynein cytoplasmic 1 intermediate chain 2Visada1 ligoje
DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1AVisada1 ligoje
EEF1A2eukaryotic translation elongation factor 1 alpha 2Visada1 ligoje
EEFSECeukaryotic elongation factor, selenocysteine-tRNA specificVisada1 ligoje
EIF4A2eukaryotic translation initiation factor 4A2Visada1 ligoje
Rodyti dar 373 genų
GenasKaip dažnai pasireiškiaLigos
ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1Visada1 ligoje
EML1EMAP like 1Visada1 ligoje
EPB41L1erythrocyte membrane protein band 4.1 like 1Visada1 ligoje
FCSKfucose kinaseVisada1 ligoje
FGF13fibroblast growth factor 13Visada1 ligoje
FLVCR1FLVCR choline and heme transporter 1Visada1 ligoje
FOXG1forkhead box G1Visada2 ligose
FRRS1Lferric chelate reductase 1 likeVisada1 ligoje
GABBR2gamma-aminobutyric acid type B receptor subunit 2Visada1 ligoje
GABRA1gamma-aminobutyric acid type A receptor subunit alpha1Visada1 ligoje
GABRA5gamma-aminobutyric acid type A receptor subunit alpha5Visada1 ligoje
GAMTguanidinoacetate N-methyltransferaseVisada2 ligose
GATAD2BGATA zinc finger domain containing 2BVisada2 ligose
GDI1GDP dissociation inhibitor 1Visada1 ligoje
GNAO1G protein subunit alpha o1Visada1 ligoje
GNPATglyceronephosphate O-acyltransferaseVisada1 ligoje
GOT2glutamic-oxaloacetic transaminase 2Visada1 ligoje
GRIA1glutamate ionotropic receptor AMPA type subunit 1Visada1 ligoje
GRIA3glutamate ionotropic receptor AMPA type subunit 3Visada2 ligose
GRIN1glutamate ionotropic receptor NMDA type subunit 1Visada3 ligose
GTPBP2GTP binding protein 2Visada1 ligoje
HNRNPCheterogeneous nuclear ribonucleoprotein CVisada1 ligoje
HNRNPH1heterogeneous nuclear ribonucleoprotein H1Visada1 ligoje
HTThuntingtinVisada1 ligoje
INPP4Ainositol polyphosphate-4-phosphatase type I AVisada1 ligoje
INTS11integrator complex subunit 11Visada1 ligoje
IQSEC1IQ motif and Sec7 domain ArfGEF 1Visada1 ligoje
ITPR1inositol 1,4,5-trisphosphate receptor type 1Visada1 ligoje
JKAMPJNK1/MAPK8 associated membrane proteinVisada1 ligoje
KAT5lysine acetyltransferase 5Visada1 ligoje
KAT6Blysine acetyltransferase 6BVisada1 ligoje
KCNC2potassium voltage-gated channel subfamily C member 2Visada1 ligoje
KCNH1potassium voltage-gated channel subfamily H member 1Visada3 ligose
KDM5Clysine demethylase 5CVisada2 ligose
KDM6Blysine demethylase 6BVisada1 ligoje
KICS2KICSTOR subunit 2Visada1 ligoje
KIF5Ckinesin family member 5CVisada1 ligoje
KLC4kinesin light chain 4Visada1 ligoje
KLHL20kelch like family member 20Visada1 ligoje
KMT2Blysine methyltransferase 2BVisada1 ligoje
KRASKRas proto-oncogene, GTPaseVisada1 ligoje
LARP7La ribonucleoprotein 7, transcriptional regulatorVisada2 ligose
LINGO1leucine rich repeat and Ig domain containing 1Visada1 ligoje
LMAN2Llectin, mannose binding 2 likeVisada1 ligoje
LRRC7leucine rich repeat containing 7Visada1 ligoje
LRRC8Cleucine rich repeat containing 8 VRAC subunit CVisada1 ligoje
MACF1microtubule actin crosslinking factor 1Visada2 ligose
MAP2K1mitogen-activated protein kinase kinase 1Visada1 ligoje
MAP2K2mitogen-activated protein kinase kinase 2Visada1 ligoje
MBD5methyl-CpG binding domain protein 5Visada2 ligose
MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2Visada1 ligoje
MECP2methyl-CpG binding protein 2Visada5 ligose
MED16mediator complex subunit 16Visada1 ligoje
MEF2Cmyocyte enhancer factor 2CVisada2 ligose
MFSD2AMFSD2 lysolipid transporter A, lysophospholipidVisada2 ligose
MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferaseVisada1 ligoje
MMADHCmetabolism of cobalamin associated DVisada1 ligoje
NDE1nudE neurodevelopment protein 1Visada1 ligoje
NINnineinVisada2 ligose
NOTCH3notch receptor 3Visada1 ligoje
OFD1OFD1 centriole and centriolar satellite proteinVisada2 ligose
OTUD6BOTU deubiquitinase 6BVisada2 ligose
P4HTMprolyl 4-hydroxylase, transmembraneVisada1 ligoje
PAK1p21 (RAC1) activated kinase 1Visada1 ligoje
PAK3p21 (RAC1) activated kinase 3Visada1 ligoje
PEX5peroxisomal biogenesis factor 5Visada1 ligoje
PGAP1post-GPI attachment to proteins inositol deacylase 1Visada1 ligoje
PGAP2post-GPI attachment to proteins 2Visada2 ligose
PGBD5piggyBac transposable element derived 5Visada1 ligoje
PIGFphosphatidylinositol glycan anchor biosynthesis class FVisada1 ligoje
PLAAphospholipase A2 activating proteinVisada1 ligoje
POMT1protein O-mannosyltransferase 1Visada3 ligose
POMT2protein O-mannosyltransferase 2Visada4 ligose
PPIL1peptidylprolyl isomerase like 1Visada1 ligoje
PPP2R1Aprotein phosphatase 2 scaffold subunit AalphaVisada1 ligoje
PRSS12serine protease 12Visada1 ligoje
PSMB1proteasome 20S subunit beta 1Visada1 ligoje
PSMC1proteasome 26S subunit, ATPase 1Visada1 ligoje
RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1Visada2 ligose
RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2Visada3 ligose
RAB5IFRAB5 interacting factorVisada1 ligoje
RAC3Rac family small GTPase 3Visada1 ligoje
RBSNrabenosyn, RAB effectorVisada1 ligoje
RFT1RFT1 glycolipid translocator homologVisada1 ligoje
RNF2ring finger protein 2Visada1 ligoje
RNU6ATACRNA, U6atac small nuclearVisada1 ligoje
SASS6SAS-6 centriolar assembly proteinVisada2 ligose
SCN2Asodium voltage-gated channel alpha subunit 2Visada1 ligoje
SCN8Asodium voltage-gated channel alpha subunit 8Visada1 ligoje
SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligaseVisada2 ligose
SEMA6Bsemaphorin 6BVisada1 ligoje
SIN3ASIN3 transcription regulator family member AVisada1 ligoje
SLC12A2solute carrier family 12 member 2Visada1 ligoje
SLC35C1solute carrier family 35 member C1Visada2 ligose
SLC6A17solute carrier family 6 member 17Visada2 ligose
SOBPsine oculis binding protein homologVisada1 ligoje
SONSON DNA and RNA binding proteinVisada2 ligose
SPTBN4spectrin beta, non-erythrocytic 4Visada1 ligoje
SRD5A3steroid 5 alpha-reductase 3Visada1 ligoje
STILSTIL centriolar assembly proteinVisada2 ligose
SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alphaVisada1 ligoje
SUOXsulfite oxidaseVisada1 ligoje
TBC1D23TBC1 domain family member 23Visada1 ligoje
TBR1T-box brain transcription factor 1Visada1 ligoje
TCF4transcription factor 4Visada1 ligoje
TFE3transcription factor binding to IGHM enhancer 3Visada1 ligoje
TIMM50translocase of inner mitochondrial membrane 50Visada2 ligose
TMX2thioredoxin related transmembrane protein 2Visada1 ligoje
TPRtranslocated promoter region, nuclear basket proteinVisada1 ligoje
TRAPPC10trafficking protein particle complex subunit 10Visada2 ligose
TRAPPC6Btrafficking protein particle complex subunit 6BVisada1 ligoje
TRIM8tripartite motif containing 8Visada1 ligoje
TTI2TELO2 interacting protein 2Visada2 ligose
TUSC3tumor suppressor candidate 3Visada1 ligoje
UBE3Aubiquitin protein ligase E3AVisada2 ligose
UBE3Bubiquitin protein ligase E3BVisada1 ligoje
UBE3Cubiquitin protein ligase E3CVisada1 ligoje
UBE4Aubiquitination factor E4AVisada1 ligoje
UBR5ubiquitin protein ligase E3 component n-recognin 5Visada1 ligoje
UGGT1UDP-glucose glycoprotein glucosyltransferase 1Visada1 ligoje
UNC13Aunc-13 homolog AVisada2 ligose
UQCRQubiquinol-cytochrome c reductase complex III subunit VIIVisada1 ligoje
VPS4Avacuolar protein sorting 4 homolog AVisada1 ligoje
WASF1WASP family member 1Visada1 ligoje
YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zetaVisada1 ligoje
ZBTB18zinc finger and BTB domain containing 18Visada1 ligoje
ZEB2zinc finger E-box binding homeobox 2Visada1 ligoje
ACSL4acyl-CoA synthetase long chain family member 4Labai dažnai (80–99%)1 ligoje
ADCY5adenylate cyclase 5Labai dažnai (80–99%)1 ligoje
AMMECR1AMMECR nuclear protein 1Labai dažnai (80–99%)1 ligoje
ANKLE2ankyrin repeat and LEM domain containing 2Labai dažnai (80–99%)1 ligoje
ARG1arginase 1Labai dažnai (80–99%)1 ligoje
ASPMassembly factor for spindle microtubulesLabai dažnai (80–99%)1 ligoje
ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolaseLabai dažnai (80–99%)1 ligoje
BCKDKbranched chain keto acid dehydrogenase kinaseLabai dažnai (80–99%)1 ligoje
BRD4bromodomain containing 4Labai dažnai (80–99%)1 ligoje
CCND2cyclin D2Labai dažnai (80–99%)1 ligoje
CDK5RAP2CDK5 regulatory subunit associated protein 2Labai dažnai (80–99%)1 ligoje
CDK6cyclin dependent kinase 6Labai dažnai (80–99%)1 ligoje
CENPEcentromere protein ELabai dažnai (80–99%)1 ligoje
CEP152centrosomal protein 152Labai dažnai (80–99%)1 ligoje
CEP85Lcentrosomal protein 85LLabai dažnai (80–99%)1 ligoje
CITcitron rho-interacting serine/threonine kinaseLabai dažnai (80–99%)1 ligoje
COPB2coat protein complex I subunit beta 2Labai dažnai (80–99%)1 ligoje
CPAPcentrosome assembly and centriole elongation proteinLabai dažnai (80–99%)1 ligoje
CPLX1complexin 1Labai dažnai (80–99%)2 ligose
CTBP1C-terminal binding protein 1Labai dažnai (80–99%)2 ligose
CTNND2catenin delta 2Labai dažnai (80–99%)1 ligoje
CUL4Bcullin 4BLabai dažnai (80–99%)1 ligoje
EIF2S3eukaryotic translation initiation factor 2 subunit gammaLabai dažnai (80–99%)1 ligoje
ERLIN2ER lipid raft associated 2Labai dažnai (80–99%)1 ligoje
FGFR3fibroblast growth factor receptor 3Labai dažnai (80–99%)2 ligose
FKTNfukutinLabai dažnai (80–99%)2 ligose
FUCA1alpha-L-fucosidase 1Labai dažnai (80–99%)1 ligoje
GALNT2polypeptide N-acetylgalactosaminyltransferase 2Labai dažnai (80–99%)1 ligoje
GLI3GLI family zinc finger 3Labai dažnai (80–99%)1 ligoje
HDAC8histone deacetylase 8Labai dažnai (80–99%)1 ligoje
HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1Labai dažnai (80–99%)1 ligoje
HNRNPUheterogeneous nuclear ribonucleoprotein ULabai dažnai (80–99%)1 ligoje
KAT6Alysine acetyltransferase 6ALabai dažnai (80–99%)1 ligoje
KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5Labai dažnai (80–99%)1 ligoje
KIF14kinesin family member 14Labai dažnai (80–99%)2 ligose
KIF7kinesin family member 7Labai dažnai (80–99%)2 ligose
KNL1kinetochore scaffold 1Labai dažnai (80–99%)1 ligoje
L1CAML1 cell adhesion moleculeLabai dažnai (80–99%)1 ligoje
L2HGDHL-2-hydroxyglutarate dehydrogenaseLabai dažnai (80–99%)1 ligoje
LETM1leucine zipper and EF-hand containing transmembrane protein 1Labai dažnai (80–99%)2 ligose
LMX1BLIM homeobox transcription factor 1 betaLabai dažnai (80–99%)1 ligoje
MAU2MAU2 sister chromatid cohesion factorLabai dažnai (80–99%)2 ligose
MBTPS2membrane bound transcription factor peptidase, site 2Labai dažnai (80–99%)1 ligoje
MCM7minichromosome maintenance complex component 7Labai dažnai (80–99%)1 ligoje
MCPH1microcephalin 1Labai dažnai (80–99%)1 ligoje
METTL5methyltransferase 5, N6-adenosineLabai dažnai (80–99%)1 ligoje
MPDU1mannose-P-dolichol utilization defect 1Labai dažnai (80–99%)1 ligoje
NAGAalpha-N-acetylgalactosaminidaseLabai dažnai (80–99%)2 ligose
NCAPD3non-SMC condensin II complex subunit D3Labai dažnai (80–99%)1 ligoje
NELFAnegative elongation factor complex member ALabai dažnai (80–99%)1 ligoje
NIPBLNIPBL cohesin loading factorLabai dažnai (80–99%)1 ligoje
NSD2nuclear receptor binding SET domain protein 2Labai dažnai (80–99%)2 ligose
NUP37nucleoporin 37Labai dažnai (80–99%)1 ligoje
PDCD6IPprogrammed cell death 6 interacting proteinLabai dažnai (80–99%)1 ligoje
PHC1polyhomeotic homolog 1Labai dažnai (80–99%)1 ligoje
PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)Labai dažnai (80–99%)1 ligoje
PIGTphosphatidylinositol glycan anchor biosynthesis class TLabai dažnai (80–99%)1 ligoje
PLP1proteolipid protein 1Labai dažnai (80–99%)2 ligose
PRUNE1prune exopolyphosphatase 1Labai dažnai (80–99%)1 ligoje
PYCR2pyrroline-5-carboxylate reductase 2Labai dažnai (80–99%)1 ligoje
RAB18RAB18, member RAS oncogene familyLabai dažnai (80–99%)1 ligoje
RAD21RAD21 cohesin complex componentLabai dažnai (80–99%)1 ligoje
RNU4-2RNA, U4 small nuclear 2Labai dažnai (80–99%)1 ligoje
ROGDIrogdi atypical leucine zipperLabai dažnai (80–99%)2 ligose
RPL10ribosomal protein L10Labai dažnai (80–99%)1 ligoje
SARS1seryl-tRNA synthetase 1Labai dažnai (80–99%)1 ligoje
SATB2SATB homeobox 2Labai dažnai (80–99%)3 ligose
SEMA5Asemaphorin 5ALabai dažnai (80–99%)1 ligoje
SLC13A5solute carrier family 13 member 5Labai dažnai (80–99%)1 ligoje
SMC1Astructural maintenance of chromosomes 1ALabai dažnai (80–99%)1 ligoje
SMC3structural maintenance of chromosomes 3Labai dažnai (80–99%)1 ligoje
SNX14sorting nexin 14Labai dažnai (80–99%)1 ligoje
STXBP1syntaxin binding protein 1Labai dažnai (80–99%)2 ligose
TAF13TATA-box binding protein associated factor 13Labai dažnai (80–99%)1 ligoje
TBC1D20TBC1 domain family member 20Labai dažnai (80–99%)2 ligose
TELO2telomere maintenance 2Labai dažnai (80–99%)1 ligoje
TRAPPC14trafficking protein particle complex subunit 14Labai dažnai (80–99%)1 ligoje
TRAPPC9trafficking protein particle complex subunit 9Labai dažnai (80–99%)1 ligoje
UBA5ubiquitin like modifier activating enzyme 5Labai dažnai (80–99%)1 ligoje
WARS1tryptophanyl-tRNA synthetase 1Labai dažnai (80–99%)1 ligoje
WDR62WD repeat domain 62Labai dažnai (80–99%)2 ligose
ZNHIT3zinc finger HIT-type containing 3Labai dažnai (80–99%)1 ligoje
ADGRG1adhesion G protein-coupled receptor G1Dažnai (30–79%)1 ligoje
AFG2AAAA ATPase AFG2ADažnai (30–79%)2 ligose
AHDC1AT-hook DNA binding motif containing 1Dažnai (30–79%)1 ligoje
ARID1AAT-rich interaction domain 1ADažnai (30–79%)1 ligoje
ARID1BAT-rich interaction domain 1BDažnai (30–79%)1 ligoje
ARID2AT-rich interaction domain 2Dažnai (30–79%)2 ligose
ASXL1ASXL transcriptional regulator 1Dažnai (30–79%)1 ligoje
ASXL3ASXL transcriptional regulator 3Dažnai (30–79%)1 ligoje
ATP9AATPase phospholipid transporting 9ADažnai (30–79%)1 ligoje
BAIAP2BAR/IMD domain containing adaptor protein 2Dažnai (30–79%)1 ligoje
CACNA1Dcalcium voltage-gated channel subunit alpha1 DDažnai (30–79%)1 ligoje
CCNKcyclin KDažnai (30–79%)1 ligoje
CLCN4Cl-/H+ antiporter 4Dažnai (30–79%)1 ligoje
CNTNAP2contactin associated protein 2Dažnai (30–79%)1 ligoje
COG5component of oligomeric golgi complex 5Dažnai (30–79%)1 ligoje
COLGALT1collagen beta(1-O)galactosyltransferase 1Dažnai (30–79%)1 ligoje
CUL3cullin 3Dažnai (30–79%)1 ligoje
DAG1dystroglycan 1Dažnai (30–79%)2 ligose
DHX9DExH-box helicase 9Dažnai (30–79%)1 ligoje
DLATdihydrolipoamide S-acetyltransferaseDažnai (30–79%)1 ligoje
DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1Dažnai (30–79%)1 ligoje
DPF2double PHD fingers 2Dažnai (30–79%)1 ligoje
DYMdymeclinDažnai (30–79%)1 ligoje
FOXE1forkhead box E1Dažnai (30–79%)1 ligoje
FOXP1forkhead box P1Dažnai (30–79%)1 ligoje
FRMD4AFERM domain containing 4ADažnai (30–79%)1 ligoje
FZR1fizzy and cell division cycle 20 related 1Dažnai (30–79%)1 ligoje
GNB5G protein subunit beta 5Dažnai (30–79%)1 ligoje
GRIN2Aglutamate ionotropic receptor NMDA type subunit 2ADažnai (30–79%)1 ligoje
GTF3C3general transcription factor IIIC subunit 3Dažnai (30–79%)1 ligoje
HNRNPKheterogeneous nuclear ribonucleoprotein KDažnai (30–79%)2 ligose
INPP5Einositol polyphosphate-5-phosphatase EDažnai (30–79%)1 ligoje
IQSEC2IQ motif and Sec7 domain ArfGEF 2Dažnai (30–79%)1 ligoje
KDM2Blysine demethylase 2BDažnai (30–79%)1 ligoje
MAB21L1mab-21 like 1Dažnai (30–79%)1 ligoje
MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6Dažnai (30–79%)1 ligoje
NACC1nucleus accumbens associated 1Dažnai (30–79%)1 ligoje
NKX2-1NK2 homeobox 1Dažnai (30–79%)1 ligoje
NKX2-5NK2 homeobox 5Dažnai (30–79%)3 ligose
OCA2OCA2 melanosomal transmembrane proteinDažnai (30–79%)1 ligoje
OPHN1oligophrenin 1Dažnai (30–79%)1 ligoje
OTX2orthodenticle homeobox 2Dažnai (30–79%)1 ligoje
PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1Dažnai (30–79%)1 ligoje
PAX8paired box 8Dažnai (30–79%)3 ligose
PEX7peroxisomal biogenesis factor 7Dažnai (30–79%)1 ligoje
PHYHphytanoyl-CoA 2-hydroxylaseDažnai (30–79%)1 ligoje
PPP2R5Dprotein phosphatase 2 regulatory subunit B'deltaDažnai (30–79%)1 ligoje
PQBP1polyglutamine binding protein 1Dažnai (30–79%)1 ligoje
PRMT7protein arginine methyltransferase 7Dažnai (30–79%)1 ligoje
PURApurine rich element binding protein ADažnai (30–79%)1 ligoje
PUS3pseudouridine synthase 3Dažnai (30–79%)1 ligoje
RBMXRNA binding motif protein X-linkedDažnai (30–79%)1 ligoje
RNU2-2RNA, U2 small nuclear 2Dažnai (30–79%)1 ligoje
RNU5B-1RNA, U5B small nuclear 1Dažnai (30–79%)1 ligoje
RTTNrotatinDažnai (30–79%)1 ligoje
SCN1Asodium voltage-gated channel alpha subunit 1Dažnai (30–79%)1 ligoje
SHMT2serine hydroxymethyltransferase 2Dažnai (30–79%)1 ligoje
SHROOM4shroom family member 4Dažnai (30–79%)1 ligoje
SLC1A2solute carrier family 1 member 2Dažnai (30–79%)1 ligoje
SLC25A15solute carrier family 25 member 15Dažnai (30–79%)1 ligoje
SLC26A4solute carrier family 26 member 4Dažnai (30–79%)2 ligose
SLC2A1solute carrier family 2 member 1Dažnai (30–79%)1 ligoje
SLC35A2solute carrier family 35 member A2Dažnai (30–79%)1 ligoje
SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2Dažnai (30–79%)1 ligoje
SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4Dažnai (30–79%)1 ligoje
SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1Dažnai (30–79%)1 ligoje
SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2Dažnai (30–79%)1 ligoje
SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1Dažnai (30–79%)1 ligoje
SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1Dažnai (30–79%)1 ligoje
SMOC1SPARC related modular calcium binding 1Dažnai (30–79%)1 ligoje
SOX11SRY-box transcription factor 11Dažnai (30–79%)1 ligoje
SOX4SRY-box transcription factor 4Dažnai (30–79%)1 ligoje
SYNGAP1synaptic Ras GTPase activating protein 1Dažnai (30–79%)1 ligoje
THOC6THO complex subunit 6Dažnai (30–79%)1 ligoje
TOR1Atorsin family 1 member ADažnai (30–79%)1 ligoje
TSHRthyroid stimulating hormone receptorDažnai (30–79%)2 ligose
UBE2Aubiquitin conjugating enzyme E2 ADažnai (30–79%)1 ligoje
UBTFupstream binding transcription factorDažnai (30–79%)1 ligoje
WBP4WW domain binding protein 4Dažnai (30–79%)1 ligoje
ZNF407zinc finger protein 407Dažnai (30–79%)1 ligoje
ZSCAN10zinc finger and SCAN domain containing 10Dažnai (30–79%)1 ligoje
ABCC8ATP binding cassette subfamily C member 8Kartais (5–29%)1 ligoje
AKT3AKT serine/threonine kinase 3Kartais (5–29%)1 ligoje
BRF1BRF1 general transcription factor IIIB subunitKartais (5–29%)1 ligoje
CA2carbonic anhydrase 2Kartais (5–29%)1 ligoje
CHD8chromodomain helicase DNA binding protein 8Kartais (5–29%)1 ligoje
CHRNA7cholinergic receptor nicotinic alpha 7 subunitKartais (5–29%)1 ligoje
CYB5Acytochrome b5 type AKartais (5–29%)1 ligoje
CYB5R3cytochrome b5 reductase 3Kartais (5–29%)1 ligoje
DCHS1dachsous cadherin-related 1Kartais (5–29%)1 ligoje
DNMT3ADNA methyltransferase 3 alphaKartais (5–29%)1 ligoje
EXT2exostosin glycosyltransferase 2Kartais (5–29%)1 ligoje
FAT4FAT atypical cadherin 4Kartais (5–29%)1 ligoje
FKRPfukutin related proteinKartais (5–29%)2 ligose
FTCDformimidoyltransferase cyclodeaminaseKartais (5–29%)1 ligoje
GCKglucokinaseKartais (5–29%)1 ligoje
GLI2GLI family zinc finger 2Kartais (5–29%)1 ligoje
GMPPBGDP-mannose pyrophosphorylase BKartais (5–29%)1 ligoje
HMGCL3-hydroxy-3-methylglutaryl-CoA lyaseKartais (5–29%)1 ligoje
HPD4-hydroxyphenylpyruvate dioxygenaseKartais (5–29%)1 ligoje
HSD17B10hydroxysteroid 17-beta dehydrogenase 10Kartais (5–29%)1 ligoje
INSinsulinKartais (5–29%)1 ligoje
KCNJ11potassium inwardly rectifying channel subfamily J member 11Kartais (5–29%)1 ligoje
KLF13KLF transcription factor 13Kartais (5–29%)1 ligoje
LARGE1LARGE xylosyl- and glucuronyltransferase 1Kartais (5–29%)2 ligose
MAN1B1mannosidase alpha class 1B member 1Kartais (5–29%)1 ligoje
MTORmechanistic target of rapamycin kinaseKartais (5–29%)1 ligoje
MYT1Lmyelin transcription factor 1 likeKartais (5–29%)1 ligoje
NAV3neuron navigator 3Kartais (5–29%)1 ligoje
NFIXnuclear factor I XKartais (5–29%)2 ligose
NSD1nuclear receptor binding SET domain protein 1Kartais (5–29%)1 ligoje
PCDH19protocadherin 19Kartais (5–29%)1 ligoje
PCNAproliferating cell nuclear antigenKartais (5–29%)1 ligoje
PDHXpyruvate dehydrogenase complex component XKartais (5–29%)1 ligoje
PDX1pancreatic and duodenal homeobox 1Kartais (5–29%)1 ligoje
PGAP3post-GPI attachment to proteins phospholipase 3Kartais (5–29%)1 ligoje
PIGLphosphatidylinositol glycan anchor biosynthesis class LKartais (5–29%)1 ligoje
PIGOphosphatidylinositol glycan anchor biosynthesis class OKartais (5–29%)1 ligoje
PIGUphosphatidylinositol glycan anchor biosynthesis class UKartais (5–29%)1 ligoje
PIGVphosphatidylinositol glycan anchor biosynthesis class VKartais (5–29%)2 ligose
PIGWphosphatidylinositol glycan anchor biosynthesis class WKartais (5–29%)1 ligoje
PIGYphosphatidylinositol glycan anchor biosynthesis class YKartais (5–29%)1 ligoje
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaKartais (5–29%)1 ligoje
POGZpogo transposable element derived with ZNF domainKartais (5–29%)1 ligoje
PPP1R15Bprotein phosphatase 1 regulatory subunit 15BKartais (5–29%)2 ligose
SATB1SATB homeobox 1Kartais (5–29%)1 ligoje
SLC35A3solute carrier family 35 member A3Kartais (5–29%)1 ligoje
SNRPNsmall nuclear ribonucleoprotein polypeptide NKartais (5–29%)1 ligoje
SRPK3SRSF protein kinase 3Kartais (5–29%)1 ligoje
STAG1STAG1 cohesin complex componentKartais (5–29%)1 ligoje
STAT3signal transducer and activator of transcription 3Kartais (5–29%)1 ligoje
THOC2THO complex subunit 2Kartais (5–29%)1 ligoje
TMEM163transmembrane protein 163Kartais (5–29%)1 ligoje
TRMT10AtRNA methyltransferase 10AKartais (5–29%)1 ligoje
WDR11WD repeat domain 11Kartais (5–29%)1 ligoje
YY1YY1 transcription factorKartais (5–29%)1 ligoje
ACAT1acetyl-CoA acetyltransferase 1Retai (1–4 %)1 ligoje
NEU1neuraminidase 1Retai (1–4 %)1 ligoje
AP1S2adaptor related protein complex 1 subunit sigma 2Neužfiksuota1 ligoje
ARFGEF2ARF guanine nucleotide exchange factor 2Neužfiksuota1 ligoje
ATRXATRX chromatin remodelerNeužfiksuota1 ligoje
DMPKDM1 protein kinaseNeužfiksuota1 ligoje
EHMT1euchromatic histone lysine methyltransferase 1Neužfiksuota1 ligoje
FGFRL1fibroblast growth factor receptor like 1Neužfiksuota1 ligoje
HNMThistamine N-methyltransferaseNeužfiksuota1 ligoje
KCNJ6potassium inwardly rectifying channel subfamily J member 6Neužfiksuota1 ligoje
NANSN-acetylneuraminate synthaseNeužfiksuota1 ligoje
NRXN1neurexin 1Neužfiksuota1 ligoje
NTRK2neurotrophic receptor tyrosine kinase 2Neužfiksuota1 ligoje
PEX1peroxisomal biogenesis factor 1Neužfiksuota1 ligoje
PHF6PHD finger protein 6Neužfiksuota1 ligoje
PLEKHG2pleckstrin homology and RhoGEF domain containing G2Neužfiksuota1 ligoje
PNKPpolynucleotide kinase 3'-phosphataseNeužfiksuota1 ligoje
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)Neužfiksuota1 ligoje
SLC16A2solute carrier family 16 member 2Neužfiksuota1 ligoje
SLC9A6solute carrier family 9 member A6Neužfiksuota1 ligoje
SNAP29synaptosome associated protein 29Neužfiksuota1 ligoje
SPTAN1spectrin alpha, non-erythrocytic 1Neužfiksuota1 ligoje
TMEM107transmembrane protein 107Neužfiksuota1 ligoje
TMEM237transmembrane protein 237Neužfiksuota1 ligoje
TSHBthyroid stimulating hormone subunit betaNeužfiksuota1 ligoje
TUBA1Atubulin alpha 1aNeužfiksuota1 ligoje
WDR81WD repeat domain 81Neužfiksuota1 ligoje
WIPI2WD repeat domain, phosphoinositide interacting 2Neužfiksuota1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Platesni požymiai

Intellectual disability

Iš kur tai žinoma

  • Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
  • Duomenų leidimas 2026.10.19-9814e911.

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