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Požymis
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical.
Santrauka
- Taip pat vadinama
- Deep set eye, Deep-set eyes, Sunken eye, Enophthalmos, Ocular depression, Sunken eyes
- Kūno sistema
- Abnormality of the eye
Deeply set eyeHP:0000490
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PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Deeply set eye, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test291 genas susijęs su Deeply set eye
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Deeply set eye. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Visada | 1 ligoje |
| BUD13BUD13 spliceosome associated protein | Visada | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Visada | 1 ligoje |
| COA3cytochrome c oxidase assembly factor 3 | Visada | 1 ligoje |
| COX8Acytochrome c oxidase subunit 8A | Visada | 1 ligoje |
| DCPSdecapping enzyme, scavenger | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Visada | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Visada | 3 ligose |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 4 ligose |
| EXOSC2exosome component 2 | Visada | 1 ligoje |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Visada | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 3 ligose |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Visada | 2 ligose |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Visada | 1 ligoje |
| IKZF2IKAROS family zinc finger 2 | Visada | 1 ligoje |
| JAG1jagged canonical Notch ligand 1 | Visada | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Visada | 2 ligose |
| LIFRLIF receptor subunit alpha | Visada | 1 ligoje |
| MAD1L1mitotic arrest deficient 1 like 1 | Visada | 1 ligoje |
| MEIS2Meis homeobox 2 | Visada | 2 ligose |
| MYH3myosin heavy chain 3 | Visada | 2 ligose |
| PAK1p21 (RAC1) activated kinase 1 | Visada | 1 ligoje |
| PDCD6IPprogrammed cell death 6 interacting protein | Visada | 1 ligoje |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Visada | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Visada | 2 ligose |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Visada | 1 ligoje |
| PLECplectin | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| PRMT7protein arginine methyltransferase 7 | Visada | 2 ligose |
| PYCR1pyrroline-5-carboxylate reductase 1 | Visada | 2 ligose |
Rodyti dar 251 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Visada | 1 ligoje |
| SPIN4spindlin family member 4 | Visada | 1 ligoje |
| STIM1stromal interaction molecule 1 | Visada | 2 ligose |
| SUOXsulfite oxidase | Visada | 1 ligoje |
| TAF4TATA-box binding protein associated factor 4 | Visada | 1 ligoje |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Visada | 2 ligose |
| TBCEtubulin folding cofactor E | Visada | 2 ligose |
| TBX15T-box transcription factor 15 | Visada | 2 ligose |
| TCF4transcription factor 4 | Visada | 2 ligose |
| THOC6THO complex subunit 6 | Visada | 2 ligose |
| TPRtranslocated promoter region, nuclear basket protein | Visada | 1 ligoje |
| TPRKBTP53RK binding protein | Visada | 1 ligoje |
| UBAP2Lubiquitin associated protein 2 like | Visada | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 1 ligoje |
| YARS1tyrosyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ZPR1ZPR1 zinc finger | Visada | 1 ligoje |
| CASZ1castor zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| DHPSdeoxyhypusine synthase | Labai dažnai (80–99%) | 1 ligoje |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Labai dažnai (80–99%) | 3 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Labai dažnai (80–99%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Labai dažnai (80–99%) | 1 ligoje |
| HDAC8histone deacetylase 8 | Labai dažnai (80–99%) | 2 ligose |
| HSPG2heparan sulfate proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| LAS1LLAS1 like ribosome biogenesis factor | Labai dažnai (80–99%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Labai dažnai (80–99%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Labai dažnai (80–99%) | 2 ligose |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| PDPNpodoplanin | Labai dažnai (80–99%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| POLR3ARNA polymerase III subunit A | Labai dažnai (80–99%) | 3 ligose |
| PRDM16PR/SET domain 16 | Labai dažnai (80–99%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Labai dažnai (80–99%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Labai dažnai (80–99%) | 2 ligose |
| REREarginine-glutamic acid dipeptide repeats | Labai dažnai (80–99%) | 2 ligose |
| SH3PXD2BSH3 and PX domains 2B | Labai dažnai (80–99%) | 1 ligoje |
| SKISKI proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SONSON DNA and RNA binding protein | Labai dažnai (80–99%) | 2 ligose |
| SPENspen family transcriptional repressor | Labai dažnai (80–99%) | 2 ligose |
| SSR4signal sequence receptor subunit 4 | Labai dažnai (80–99%) | 2 ligose |
| STAG1STAG1 cohesin complex component | Labai dažnai (80–99%) | 2 ligose |
| TBC1D7TBC1 domain family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Labai dažnai (80–99%) | 1 ligoje |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Dažnai (30–79%) | 1 ligoje |
| ACTBactin beta | Dažnai (30–79%) | 1 ligoje |
| AGO2argonaute RISC catalytic component 2 | Dažnai (30–79%) | 1 ligoje |
| BCRBCR activator of RhoGEF and GTPase | Dažnai (30–79%) | 1 ligoje |
| BPTFbromodomain PHD finger transcription factor | Dažnai (30–79%) | 1 ligoje |
| CAMTA1calmodulin binding transcription activator 1 | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 2 ligose |
| CEP57centrosomal protein 57 | Dažnai (30–79%) | 1 ligoje |
| CHN1chimerin 1 | Dažnai (30–79%) | 1 ligoje |
| COL5A1collagen type V alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COX5Acytochrome c oxidase subunit 5A | Dažnai (30–79%) | 1 ligoje |
| CRKLCRK like proto-oncogene, adaptor protein | Dažnai (30–79%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Dažnai (30–79%) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Dažnai (30–79%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 3 ligose |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| FAM177A1family with sequence similarity 177 member A1 | Dažnai (30–79%) | 1 ligoje |
| FBXO31F-box protein 31 | Dažnai (30–79%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Dažnai (30–79%) | 1 ligoje |
| GJA1gap junction protein alpha 1 | Dažnai (30–79%) | 2 ligose |
| GLYCTKglycerate kinase | Dažnai (30–79%) | 1 ligoje |
| GNSglucosamine (N-acetyl)-6-sulfatase | Dažnai (30–79%) | 1 ligoje |
| GORABgolgin, RAB6 interacting | Dažnai (30–79%) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Dažnai (30–79%) | 1 ligoje |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Dažnai (30–79%) | 2 ligose |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Dažnai (30–79%) | 1 ligoje |
| HHAThedgehog acyltransferase | Dažnai (30–79%) | 1 ligoje |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Dažnai (30–79%) | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Dažnai (30–79%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Dažnai (30–79%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Dažnai (30–79%) | 1 ligoje |
| KCNK4potassium two pore domain channel subfamily K member 4 | Dažnai (30–79%) | 1 ligoje |
| KIDINS220kinase D interacting substrate 220 | Dažnai (30–79%) | 2 ligose |
| KIF7kinesin family member 7 | Dažnai (30–79%) | 1 ligoje |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Dažnai (30–79%) | 1 ligoje |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Dažnai (30–79%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Dažnai (30–79%) | 1 ligoje |
| MAPK1mitogen-activated protein kinase 1 | Dažnai (30–79%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Dažnai (30–79%) | 1 ligoje |
| MEF2Cmyocyte enhancer factor 2C | Dažnai (30–79%) | 2 ligose |
| MSL2MSL complex subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Dažnai (30–79%) | 1 ligoje |
| NALCNsodium leak channel, non-selective | Dažnai (30–79%) | 1 ligoje |
| NGFnerve growth factor | Dažnai (30–79%) | 1 ligoje |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| ODC1ornithine decarboxylase 1 | Dažnai (30–79%) | 2 ligose |
| OPHN1oligophrenin 1 | Dažnai (30–79%) | 2 ligose |
| PAK3p21 (RAC1) activated kinase 3 | Dažnai (30–79%) | 1 ligoje |
| PHF6PHD finger protein 6 | Dažnai (30–79%) | 2 ligose |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Dažnai (30–79%) | 1 ligoje |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Dažnai (30–79%) | 1 ligoje |
| PLAAphospholipase A2 activating protein | Dažnai (30–79%) | 1 ligoje |
| POU4F1POU class 4 homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Dažnai (30–79%) | 1 ligoje |
| RECQLRecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| SALL4spalt like transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| SATB2SATB homeobox 2 | Dažnai (30–79%) | 2 ligose |
| SEPHS1selenophosphate synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Dažnai (30–79%) | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Dažnai (30–79%) | 2 ligose |
| SRRM2serine/arginine repetitive matrix 2 | Dažnai (30–79%) | 1 ligoje |
| STAT3signal transducer and activator of transcription 3 | Dažnai (30–79%) | 1 ligoje |
| TAF1TATA-box binding protein associated factor 1 | Dažnai (30–79%) | 2 ligose |
| TBC1D20TBC1 domain family member 20 | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 2 ligose |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 2 ligose |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Dažnai (30–79%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Dažnai (30–79%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 3 ligose |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 2 ligose |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| ANKRD17ankyrin repeat domain 17 | Kartais (5–29%) | 1 ligoje |
| ASXL3ASXL transcriptional regulator 3 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 2 ligose |
| ATXN7L3ataxin 7 like 3 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Kartais (5–29%) | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Kartais (5–29%) | 1 ligoje |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CAPRIN1cell cycle associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| CNOT3CCR4-NOT transcription complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Kartais (5–29%) | 1 ligoje |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Kartais (5–29%) | 1 ligoje |
| EIF5Aeukaryotic translation initiation factor 5A | Kartais (5–29%) | 1 ligoje |
| EXTL3exostosin like glycosyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Kartais (5–29%) | 2 ligose |
| FOXF1forkhead box F1 | Kartais (5–29%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Kartais (5–29%) | 1 ligoje |
| GATA4GATA binding protein 4 | Kartais (5–29%) | 1 ligoje |
| GATAD2BGATA zinc finger domain containing 2B | Kartais (5–29%) | 2 ligose |
| GJA5gap junction protein alpha 5 | Kartais (5–29%) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GPKOWG-patch domain and KOW motifs | Kartais (5–29%) | 1 ligoje |
| H3-3AH3.3 histone A | Kartais (5–29%) | 1 ligoje |
| H4C5H4 clustered histone 5 | Kartais (5–29%) | 1 ligoje |
| HMGA2high mobility group AT-hook 2 | Kartais (5–29%) | 1 ligoje |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 2 ligose |
| KMT2Blysine methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| LEMD3LEM domain containing 3 | Kartais (5–29%) | 1 ligoje |
| MED12Lmediator complex subunit 12L | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MIPEPmitochondrial intermediate peptidase | Kartais (5–29%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Kartais (5–29%) | 1 ligoje |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Kartais (5–29%) | 1 ligoje |
| NF1neurofibromin 1 | Kartais (5–29%) | 1 ligoje |
| NFIXnuclear factor I X | Kartais (5–29%) | 1 ligoje |
| NOVA2NOVA alternative splicing regulator 2 | Kartais (5–29%) | 1 ligoje |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Kartais (5–29%) | 1 ligoje |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PLAAT3phospholipase A and acyltransferase 3 | Kartais (5–29%) | 1 ligoje |
| PLP1proteolipid protein 1 | Kartais (5–29%) | 1 ligoje |
| POC1APOC1 centriolar protein A | Kartais (5–29%) | 1 ligoje |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Kartais (5–29%) | 1 ligoje |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Kartais (5–29%) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Kartais (5–29%) | 2 ligose |
| SETBP1SET binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Kartais (5–29%) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Kartais (5–29%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Kartais (5–29%) | 1 ligoje |
| SLC9A7solute carrier family 9 member A7 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 2 ligose |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Kartais (5–29%) | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Kartais (5–29%) | 1 ligoje |
| TBCBtubulin folding cofactor B | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 1 ligoje |
| TBCKTBC1 domain containing kinase | Kartais (5–29%) | 2 ligose |
| TRIM8tripartite motif containing 8 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| TTI2TELO2 interacting protein 2 | Kartais (5–29%) | 2 ligose |
| WACWW domain containing adaptor with coiled-coil | Kartais (5–29%) | 3 ligose |
| WASF1WASP family member 1 | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Retai (1–4 %) | 2 ligose |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| UGDHUDP-glucose 6-dehydrogenase | Retai (1–4 %) | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Neužfiksuota | 1 ligoje |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Neužfiksuota | 1 ligoje |
| ATN1atrophin 1 | Neužfiksuota | 1 ligoje |
| CENPFcentromere protein F | Neužfiksuota | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Neužfiksuota | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Neužfiksuota | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Neužfiksuota | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Neužfiksuota | 1 ligoje |
| FBXO11F-box protein 11 | Neužfiksuota | 1 ligoje |
| GSCgoosecoid homeobox | Neužfiksuota | 1 ligoje |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| IGF1Rinsulin like growth factor 1 receptor | Neužfiksuota | 1 ligoje |
| KMT2Elysine methyltransferase 2E (inactive) | Neužfiksuota | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Neužfiksuota | 1 ligoje |
| POU1F1POU class 1 homeobox 1 | Neužfiksuota | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Neužfiksuota | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| SEPTIN9septin 9 | Neužfiksuota | 1 ligoje |
| SLC35A1solute carrier family 35 member A1 | Neužfiksuota | 1 ligoje |
| SMAD4SMAD family member 4 | Neužfiksuota | 1 ligoje |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| TCF20transcription factor 20 | Neužfiksuota | 1 ligoje |
| TMEM237transmembrane protein 237 | Neužfiksuota | 1 ligoje |
| TMEM94transmembrane protein 94 | Neužfiksuota | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Neužfiksuota | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 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
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 2026.10.16-c6eea6bf.
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