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PrisijungtiKlaustiPradėtinuo 449 $
Požymis
Small for gestational age
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Santrauka
- Taip pat vadinama
- Birth weight less than 10th percentile, Low birth weight
- Kūno sistema
- Growth abnormality
Small for gestational ageHP:0001518
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiPradėtinuo 449 $
Read the genes linked to Small for gestational age, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test300 genų susiję su Small for gestational age
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Small for gestational age. 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Visada | 2 ligose |
| ACTBactin beta | Visada | 1 ligoje |
| ARID2AT-rich interaction domain 2 | Visada | 1 ligoje |
| ASH1LASH1 like histone lysine methyltransferase | Visada | 1 ligoje |
| BLMBLM RecQ like helicase | Visada | 2 ligose |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Visada | 1 ligoje |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Visada | 1 ligoje |
| CDAN1codanin 1 | Visada | 1 ligoje |
| CENPEcentromere protein E | Visada | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Visada | 1 ligoje |
| COX20cytochrome c oxidase assembly factor COX20 | Visada | 1 ligoje |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Visada | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Visada | 1 ligoje |
| DHX9DExH-box helicase 9 | Visada | 1 ligoje |
| DNM2dynamin 2 | Visada | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Visada | 2 ligose |
| ERCC5ERCC excision repair 5, endonuclease | Visada | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 2 ligose |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Visada | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| GCKglucokinase | Visada | 1 ligoje |
| GINS3GINS complex subunit 3 | Visada | 1 ligoje |
| GMNNgeminin DNA replication inhibitor | Visada | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Visada | 1 ligoje |
| GON4Lgon-4 like | Visada | 1 ligoje |
| GTF2H4general transcription factor IIH subunit 4 | Visada | 1 ligoje |
| GUK1guanylate kinase 1 | Visada | 1 ligoje |
| HMGA2high mobility group AT-hook 2 | Visada | 2 ligose |
| IARS1isoleucyl-tRNA synthetase 1 | Visada | 1 ligoje |
| IGF2insulin like growth factor 2 | Visada | 5 ligose |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KARS1lysyl-tRNA synthetase 1 | Visada | 1 ligoje |
| KDM6Blysine demethylase 6B | Visada | 1 ligoje |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| LIG4DNA ligase 4 | Visada | 1 ligoje |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Visada | 1 ligoje |
| MRPS16mitochondrial ribosomal protein S16 | Visada | 1 ligoje |
| NCAPD2non-SMC condensin I complex subunit D2 | Visada | 1 ligoje |
Rodyti dar 260 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| NCAPHnon-SMC condensin I complex subunit H | Visada | 1 ligoje |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| NUDT2nudix hydrolase 2 | Visada | 1 ligoje |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| OBSL1obscurin like cytoskeletal adaptor 1 | Visada | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Visada | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Visada | 1 ligoje |
| PET100PET100 cytochrome c oxidase chaperone | Visada | 1 ligoje |
| POC1APOC1 centriolar protein A | Visada | 1 ligoje |
| POLR3ARNA polymerase III subunit A | Visada | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Visada | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Visada | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Visada | 1 ligoje |
| PTCD3pentatricopeptide repeat domain 3 | Visada | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Visada | 2 ligose |
| RBBP8RB binding protein 8, endonuclease | Visada | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Visada | 1 ligoje |
| SEC61A1SEC61 translocon subunit alpha 1 | Visada | 1 ligoje |
| SKIC2SKI2 subunit of superkiller complex | Visada | 2 ligose |
| SLC12A1solute carrier family 12 member 1 | Visada | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Visada | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Visada | 1 ligoje |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Visada | 2 ligose |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TAF13TATA-box binding protein associated factor 13 | Visada | 1 ligoje |
| TIMM22translocase of inner mitochondrial membrane 22 | Visada | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Visada | 1 ligoje |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Visada | 1 ligoje |
| YIPF5Yip1 domain family member 5 | Visada | 1 ligoje |
| ZNF668zinc finger protein 668 | Visada | 1 ligoje |
| ZNF808zinc finger protein 808 | Visada | 1 ligoje |
| ASCL1achaete-scute family bHLH transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Labai dažnai (80–99%) | 1 ligoje |
| CEP57centrosomal protein 57 | Labai dažnai (80–99%) | 1 ligoje |
| CPLX1complexin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Labai dažnai (80–99%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Labai dažnai (80–99%) | 3 ligose |
| FANCD2FA complementation group D2 | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 1 ligoje |
| FBXO22F-box protein 22 | Labai dažnai (80–99%) | 1 ligoje |
| FGFRL1fibroblast growth factor receptor like 1 | Labai dažnai (80–99%) | 1 ligoje |
| FZD4frizzled class receptor 4 | Labai dažnai (80–99%) | 1 ligoje |
| H19H19 imprinted maternally expressed transcript | Labai dažnai (80–99%) | 2 ligose |
| HYMAIhydatidiform mole associated and imprinted | Labai dažnai (80–99%) | 1 ligoje |
| IGF1insulin like growth factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Labai dažnai (80–99%) | 1 ligoje |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Labai dažnai (80–99%) | 1 ligoje |
| MCTP2multiple C2 and transmembrane domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| NDPnorrin cystine knot growth factor NDP | Labai dažnai (80–99%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Labai dažnai (80–99%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Labai dažnai (80–99%) | 2 ligose |
| PHOX2Bpaired like homeobox 2B | Labai dažnai (80–99%) | 1 ligoje |
| PLAG1PLAG1 zinc finger | Labai dažnai (80–99%) | 2 ligose |
| PLAGL1PLAG1 like zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Labai dažnai (80–99%) | 2 ligose |
| RETret proto-oncogene | Labai dažnai (80–99%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Labai dažnai (80–99%) | 1 ligoje |
| TBR1T-box brain transcription factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Labai dažnai (80–99%) | 1 ligoje |
| TSHRthyroid stimulating hormone receptor | Labai dažnai (80–99%) | 2 ligose |
| ZFP57ZFP57 zinc finger protein | Labai dažnai (80–99%) | 1 ligoje |
| ADA2adenosine deaminase 2 | Dažnai (30–79%) | 1 ligoje |
| AK2adenylate kinase 2 | Dažnai (30–79%) | 1 ligoje |
| ALBalbumin | Dažnai (30–79%) | 1 ligoje |
| ANAPC1anaphase promoting complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Dažnai (30–79%) | 2 ligose |
| BSNDbarttin CLCNK type accessory subunit beta | Dažnai (30–79%) | 1 ligoje |
| CAV1caveolin 1 | Dažnai (30–79%) | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Dažnai (30–79%) | 1 ligoje |
| CLCNKAchloride voltage-gated channel Ka | Dažnai (30–79%) | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Dažnai (30–79%) | 1 ligoje |
| CNOT1CCR4-NOT transcription complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Dažnai (30–79%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 2 ligose |
| CTCFCCCTC-binding factor | Dažnai (30–79%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Dažnai (30–79%) | 1 ligoje |
| DEF6DEF6 guanine nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Dažnai (30–79%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| FBXL4F-box and leucine rich repeat protein 4 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FRYLFRY like transcription coactivator | Dažnai (30–79%) | 1 ligoje |
| GATA1GATA binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| GATA6GATA binding protein 6 | Dažnai (30–79%) | 1 ligoje |
| GRB10growth factor receptor bound protein 10 | Dažnai (30–79%) | 1 ligoje |
| GUF1GTP binding elongation factor GUF1 | Dažnai (30–79%) | 1 ligoje |
| HEATR3HEAT repeat containing 3 | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| KIF22kinesin family member 22 | Dažnai (30–79%) | 1 ligoje |
| LMBRD1LMBR1 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| MAPKAPK5MAPK activated protein kinase 5 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 2 ligose |
| MMACHCmetabolism of cobalamin associated C | Dažnai (30–79%) | 1 ligoje |
| NCAPD3non-SMC condensin II complex subunit D3 | Dažnai (30–79%) | 1 ligoje |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Dažnai (30–79%) | 1 ligoje |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Dažnai (30–79%) | 1 ligoje |
| NGLY1N-glycanase 1 | Dažnai (30–79%) | 1 ligoje |
| NKX3-2NK3 homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Dažnai (30–79%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Dažnai (30–79%) | 1 ligoje |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Dažnai (30–79%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Dažnai (30–79%) | 2 ligose |
| POLR1ARNA polymerase I subunit A | Dažnai (30–79%) | 1 ligoje |
| PPFIBP1PPFIB scaffold protein 1 | Dažnai (30–79%) | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Dažnai (30–79%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| PRDX1peroxiredoxin 1 | Dažnai (30–79%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Dažnai (30–79%) | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Dažnai (30–79%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Dažnai (30–79%) | 2 ligose |
| RNU6ATACRNA, U6atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| RPL11ribosomal protein L11 | Dažnai (30–79%) | 1 ligoje |
| RPL15ribosomal protein L15 | Dažnai (30–79%) | 1 ligoje |
| RPL18ribosomal protein L18 | Dažnai (30–79%) | 1 ligoje |
| RPL26ribosomal protein L26 | Dažnai (30–79%) | 1 ligoje |
| RPL27ribosomal protein L27 | Dažnai (30–79%) | 1 ligoje |
| RPL31ribosomal protein L31 | Dažnai (30–79%) | 1 ligoje |
| RPL35ribosomal protein L35 | Dažnai (30–79%) | 1 ligoje |
| RPL35Aribosomal protein L35a | Dažnai (30–79%) | 1 ligoje |
| RPL5ribosomal protein L5 | Dažnai (30–79%) | 1 ligoje |
| RPL8ribosomal protein L8 | Dažnai (30–79%) | 1 ligoje |
| RPL9ribosomal protein L9 | Dažnai (30–79%) | 1 ligoje |
| RPS10ribosomal protein S10 | Dažnai (30–79%) | 1 ligoje |
| RPS15Aribosomal protein S15a | Dažnai (30–79%) | 1 ligoje |
| RPS17ribosomal protein S17 | Dažnai (30–79%) | 1 ligoje |
| RPS19ribosomal protein S19 | Dažnai (30–79%) | 1 ligoje |
| RPS20ribosomal protein S20 | Dažnai (30–79%) | 1 ligoje |
| RPS24ribosomal protein S24 | Dažnai (30–79%) | 1 ligoje |
| RPS26ribosomal protein S26 | Dažnai (30–79%) | 1 ligoje |
| RPS27ribosomal protein S27 | Dažnai (30–79%) | 1 ligoje |
| RPS28ribosomal protein S28 | Dažnai (30–79%) | 1 ligoje |
| RPS29ribosomal protein S29 | Dažnai (30–79%) | 1 ligoje |
| RPS7ribosomal protein S7 | Dažnai (30–79%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 2 ligose |
| SHROOM4shroom family member 4 | Dažnai (30–79%) | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Dažnai (30–79%) | 2 ligose |
| SIX2SIX homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| SKIC3SKI3 subunit of superkiller complex | Dažnai (30–79%) | 2 ligose |
| SLC35C1solute carrier family 35 member C1 | Dažnai (30–79%) | 1 ligoje |
| SLC4A10solute carrier family 4 member 10 | Dažnai (30–79%) | 1 ligoje |
| SMAD4SMAD family member 4 | Dažnai (30–79%) | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| STAMBPSTAM binding protein | Dažnai (30–79%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 2 ligose |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 1 ligoje |
| TONSLtonsoku like, DNA repair protein | Dažnai (30–79%) | 1 ligoje |
| TRMT1tRNA methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| TSR2TSR2 ribosome maturation factor | Dažnai (30–79%) | 1 ligoje |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Dažnai (30–79%) | 1 ligoje |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Dažnai (30–79%) | 1 ligoje |
| VPS33BVPS33B late endosome and lysosome associated | Dažnai (30–79%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Dažnai (30–79%) | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Dažnai (30–79%) | 1 ligoje |
| ACADVLacyl-CoA dehydrogenase very long chain | Kartais (5–29%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| B4GALT1beta-1,4-galactosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Kartais (5–29%) | 1 ligoje |
| CARS1cysteinyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| CCNQcyclin Q | Kartais (5–29%) | 1 ligoje |
| CLTCL1clathrin heavy chain like 1 | Kartais (5–29%) | 1 ligoje |
| CORINcorin, serine peptidase | Kartais (5–29%) | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DSTdystonin | Kartais (5–29%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| EPCAMepithelial cell adhesion molecule | Kartais (5–29%) | 1 ligoje |
| FLT1fms related receptor tyrosine kinase 1 | Kartais (5–29%) | 1 ligoje |
| GALK1galactokinase 1 | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 2 ligose |
| HNF1AHNF1 homeobox A | Kartais (5–29%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Kartais (5–29%) | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| LRPPRCleucine rich pentatricopeptide repeat containing | Kartais (5–29%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Kartais (5–29%) | 3 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Kartais (5–29%) | 1 ligoje |
| MSX1msh homeobox 1 | Kartais (5–29%) | 1 ligoje |
| NDNnecdin, MAGE family member | Kartais (5–29%) | 3 ligose |
| NECTIN1nectin cell adhesion molecule 1 | Kartais (5–29%) | 1 ligoje |
| NSMCE3NSE3 component of SMC5/6 complex | Kartais (5–29%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Kartais (5–29%) | 3 ligose |
| PAX2paired box 2 | Kartais (5–29%) | 1 ligoje |
| PBX1PBX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Kartais (5–29%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Kartais (5–29%) | 3 ligose |
| SPRsepiapterin reductase | Kartais (5–29%) | 1 ligoje |
| STAG1STAG1 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| STOX1storkhead box 1 | Kartais (5–29%) | 1 ligoje |
| TAF11TATA-box binding protein associated factor 11 | Kartais (5–29%) | 1 ligoje |
| THOC2THO complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| TP63tumor protein p63 | Kartais (5–29%) | 1 ligoje |
| WBP4WW domain binding protein 4 | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ABCB11ATP binding cassette subfamily B member 11 | Retai (1–4 %) | 1 ligoje |
| ABCB4ATP binding cassette subfamily B member 4 | Retai (1–4 %) | 1 ligoje |
| ARandrogen receptor | Retai (1–4 %) | 1 ligoje |
| ATP8B1ATPase phospholipid transporting 8B1 | Retai (1–4 %) | 1 ligoje |
| CYB5Acytochrome b5 type A | Retai (1–4 %) | 1 ligoje |
| CYB5R3cytochrome b5 reductase 3 | Retai (1–4 %) | 1 ligoje |
| MAMLD1mastermind like domain containing 1 | Retai (1–4 %) | 1 ligoje |
| MED16mediator complex subunit 16 | Retai (1–4 %) | 1 ligoje |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Retai (1–4 %) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Retai (1–4 %) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Neužfiksuota | 1 ligoje |
| CNTN1contactin 1 | Neužfiksuota | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL1A2collagen type I alpha 2 chain | Neužfiksuota | 1 ligoje |
| COQ7coenzyme Q7, hydroxylase | Neužfiksuota | 1 ligoje |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Neužfiksuota | 1 ligoje |
| CUL7cullin 7 | Neužfiksuota | 1 ligoje |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Neužfiksuota | 1 ligoje |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Neužfiksuota | 1 ligoje |
| FAM111AFAM111 trypsin like peptidase A | Neužfiksuota | 1 ligoje |
| FANCAFA complementation group A | Neužfiksuota | 1 ligoje |
| FANCCFA complementation group C | Neužfiksuota | 1 ligoje |
| FANCEFA complementation group E | Neužfiksuota | 1 ligoje |
| FLCNfolliculin | Neužfiksuota | 1 ligoje |
| GKglycerol kinase | Neužfiksuota | 1 ligoje |
| GTF2E2general transcription factor IIE subunit 2 | Neužfiksuota | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Neužfiksuota | 1 ligoje |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Neužfiksuota | 1 ligoje |
| INSinsulin | Neužfiksuota | 1 ligoje |
| INSRinsulin receptor | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| MTO1mitochondrial tRNA translation optimization 1 | Neužfiksuota | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| MYH3myosin heavy chain 3 | Neužfiksuota | 1 ligoje |
| NPHS1NPHS1 adhesion molecule, nephrin | Neužfiksuota | 1 ligoje |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Neužfiksuota | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Neužfiksuota | 1 ligoje |
| PTF1Apancreas associated transcription factor 1a | Neužfiksuota | 1 ligoje |
| RAI1retinoic acid induced 1 | Neužfiksuota | 1 ligoje |
| SBDSSBDS ribosome maturation factor | Neužfiksuota | 1 ligoje |
| SRP54signal recognition particle 54 | Neužfiksuota | 1 ligoje |
| TALDO1transaldolase 1 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| THRBthyroid hormone receptor beta | Neužfiksuota | 1 ligoje |
| TMEM70transmembrane protein 70 | Neužfiksuota | 1 ligoje |
| TRAIPTRAF interacting protein | Neužfiksuota | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 1 ligoje |
| ZNF335zinc finger protein 335 | 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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