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Piirre
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.
Yhteenveto
- Tunnetaan myös nimellä
- Birth weight less than 10th percentile, Low birth weight
- Elimistön järjestelmä
- Growth abnormality
Small for gestational ageHP:0001518
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Read the genes linked to Small for gestational age, and the rest of your genome, with one test.
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Tilaa Genome Test300 geeniä, jotka liittyvät piirteeseen Small for gestational age
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Small for gestational age esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Aina | 2 sairaudessa |
| ACTBactin beta | Aina | 1 sairaudessa |
| ARID2AT-rich interaction domain 2 | Aina | 1 sairaudessa |
| ASH1LASH1 like histone lysine methyltransferase | Aina | 1 sairaudessa |
| BLMBLM RecQ like helicase | Aina | 2 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Aina | 1 sairaudessa |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Aina | 1 sairaudessa |
| CDAN1codanin 1 | Aina | 1 sairaudessa |
| CENPEcentromere protein E | Aina | 1 sairaudessa |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Aina | 1 sairaudessa |
| COX20cytochrome c oxidase assembly factor COX20 | Aina | 1 sairaudessa |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Aina | 1 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Aina | 1 sairaudessa |
| DHX9DExH-box helicase 9 | Aina | 1 sairaudessa |
| DNM2dynamin 2 | Aina | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Aina | 2 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Aina | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Aina | 2 sairaudessa |
| ESAMendothelial cell adhesion molecule | Aina | 1 sairaudessa |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Aina | 1 sairaudessa |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Aina | 1 sairaudessa |
| GCKglucokinase | Aina | 1 sairaudessa |
| GINS3GINS complex subunit 3 | Aina | 1 sairaudessa |
| GMNNgeminin DNA replication inhibitor | Aina | 1 sairaudessa |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Aina | 1 sairaudessa |
| GON4Lgon-4 like | Aina | 1 sairaudessa |
| GTF2H4general transcription factor IIH subunit 4 | Aina | 1 sairaudessa |
| GUK1guanylate kinase 1 | Aina | 1 sairaudessa |
| HMGA2high mobility group AT-hook 2 | Aina | 2 sairaudessa |
| IARS1isoleucyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| IGF2insulin like growth factor 2 | Aina | 5 sairaudessa |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Aina | 1 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KARS1lysyl-tRNA synthetase 1 | Aina | 1 sairaudessa |
| KDM6Blysine demethylase 6B | Aina | 1 sairaudessa |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| LIG4DNA ligase 4 | Aina | 1 sairaudessa |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Aina | 1 sairaudessa |
| MRPS16mitochondrial ribosomal protein S16 | Aina | 1 sairaudessa |
| NCAPD2non-SMC condensin I complex subunit D2 | Aina | 1 sairaudessa |
Näytä 260 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| NCAPHnon-SMC condensin I complex subunit H | Aina | 1 sairaudessa |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Aina | 1 sairaudessa |
| NOTCH3notch receptor 3 | Aina | 1 sairaudessa |
| NUDT2nudix hydrolase 2 | Aina | 1 sairaudessa |
| NUP188nucleoporin 188 | Aina | 1 sairaudessa |
| OBSL1obscurin like cytoskeletal adaptor 1 | Aina | 1 sairaudessa |
| PALB2partner and localizer of BRCA2 | Aina | 1 sairaudessa |
| PAM16presequence translocase associated motor 16 | Aina | 1 sairaudessa |
| PET100PET100 cytochrome c oxidase chaperone | Aina | 1 sairaudessa |
| POC1APOC1 centriolar protein A | Aina | 1 sairaudessa |
| POLR3ARNA polymerase III subunit A | Aina | 1 sairaudessa |
| PPFIA3PPFI scaffold protein A3 | Aina | 1 sairaudessa |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Aina | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Aina | 1 sairaudessa |
| PTCD3pentatricopeptide repeat domain 3 | Aina | 1 sairaudessa |
| PUF60poly(U) binding splicing factor 60 | Aina | 2 sairaudessa |
| RBBP8RB binding protein 8, endonuclease | Aina | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Aina | 1 sairaudessa |
| SEC61A1SEC61 translocon subunit alpha 1 | Aina | 1 sairaudessa |
| SKIC2SKI2 subunit of superkiller complex | Aina | 2 sairaudessa |
| SLC12A1solute carrier family 12 member 1 | Aina | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Aina | 1 sairaudessa |
| SLC26A2solute carrier family 26 member 2 | Aina | 1 sairaudessa |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Aina | 2 sairaudessa |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Aina | 1 sairaudessa |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Aina | 1 sairaudessa |
| TAF13TATA-box binding protein associated factor 13 | Aina | 1 sairaudessa |
| TIMM22translocase of inner mitochondrial membrane 22 | Aina | 1 sairaudessa |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Aina | 1 sairaudessa |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Aina | 1 sairaudessa |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Aina | 1 sairaudessa |
| YIPF5Yip1 domain family member 5 | Aina | 1 sairaudessa |
| ZNF668zinc finger protein 668 | Aina | 1 sairaudessa |
| ZNF808zinc finger protein 808 | Aina | 1 sairaudessa |
| ASCL1achaete-scute family bHLH transcription factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Hyvin usein (80–99%) | 1 sairaudessa |
| CEP57centrosomal protein 57 | Hyvin usein (80–99%) | 1 sairaudessa |
| CPLX1complexin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CTBP1C-terminal binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DNA2DNA replication helicase/nuclease 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Hyvin usein (80–99%) | 3 sairaudessa |
| FANCD2FA complementation group D2 | Hyvin usein (80–99%) | 1 sairaudessa |
| FBN1fibrillin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Hyvin usein (80–99%) | 1 sairaudessa |
| FGFRL1fibroblast growth factor receptor like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| FZD4frizzled class receptor 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| H19H19 imprinted maternally expressed transcript | Hyvin usein (80–99%) | 2 sairaudessa |
| HYMAIhydatidiform mole associated and imprinted | Hyvin usein (80–99%) | 1 sairaudessa |
| IGF1insulin like growth factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| LONP1lon peptidase 1, mitochondrial | Hyvin usein (80–99%) | 1 sairaudessa |
| LRP5LDL receptor related protein 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| MCTP2multiple C2 and transmembrane domain containing 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NDPnorrin cystine knot growth factor NDP | Hyvin usein (80–99%) | 1 sairaudessa |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NSD2nuclear receptor binding SET domain protein 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PHOX2Bpaired like homeobox 2B | Hyvin usein (80–99%) | 1 sairaudessa |
| PLAG1PLAG1 zinc finger | Hyvin usein (80–99%) | 2 sairaudessa |
| PLAGL1PLAG1 like zinc finger 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Hyvin usein (80–99%) | 2 sairaudessa |
| RETret proto-oncogene | Hyvin usein (80–99%) | 1 sairaudessa |
| SRCAPSnf2 related CREBBP activator protein | Hyvin usein (80–99%) | 1 sairaudessa |
| TBR1T-box brain transcription factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| TRMT10AtRNA methyltransferase 10A | Hyvin usein (80–99%) | 1 sairaudessa |
| TSHRthyroid stimulating hormone receptor | Hyvin usein (80–99%) | 2 sairaudessa |
| ZFP57ZFP57 zinc finger protein | Hyvin usein (80–99%) | 1 sairaudessa |
| ADA2adenosine deaminase 2 | Usein (30–79%) | 1 sairaudessa |
| AK2adenylate kinase 2 | Usein (30–79%) | 1 sairaudessa |
| ALBalbumin | Usein (30–79%) | 1 sairaudessa |
| ANAPC1anaphase promoting complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| AUTS2activator of transcription and developmental regulator AUTS2 | Usein (30–79%) | 2 sairaudessa |
| BSNDbarttin CLCNK type accessory subunit beta | Usein (30–79%) | 1 sairaudessa |
| CAV1caveolin 1 | Usein (30–79%) | 1 sairaudessa |
| CILK1ciliogenesis associated kinase 1 | Usein (30–79%) | 1 sairaudessa |
| CLCNKAchloride voltage-gated channel Ka | Usein (30–79%) | 1 sairaudessa |
| CLCNKBchloride voltage-gated channel Kb | Usein (30–79%) | 1 sairaudessa |
| CNOT1CCR4-NOT transcription complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| COG7component of oligomeric golgi complex 7 | Usein (30–79%) | 1 sairaudessa |
| CREBBPCREB binding lysine acetyltransferase | Usein (30–79%) | 2 sairaudessa |
| CTCFCCCTC-binding factor | Usein (30–79%) | 1 sairaudessa |
| DALRD3DALR anticodon binding domain containing 3 | Usein (30–79%) | 1 sairaudessa |
| DEF6DEF6 guanine nucleotide exchange factor | Usein (30–79%) | 1 sairaudessa |
| DLK1delta like non-canonical Notch ligand 1 | Usein (30–79%) | 2 sairaudessa |
| DTYMKdeoxythymidylate kinase | Usein (30–79%) | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Usein (30–79%) | 1 sairaudessa |
| EP300EP300 lysine acetyltransferase | Usein (30–79%) | 1 sairaudessa |
| FBXL4F-box and leucine rich repeat protein 4 | Usein (30–79%) | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Usein (30–79%) | 1 sairaudessa |
| FRYLFRY like transcription coactivator | Usein (30–79%) | 1 sairaudessa |
| GATA1GATA binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| GATA6GATA binding protein 6 | Usein (30–79%) | 1 sairaudessa |
| GRB10growth factor receptor bound protein 10 | Usein (30–79%) | 1 sairaudessa |
| GUF1GTP binding elongation factor GUF1 | Usein (30–79%) | 1 sairaudessa |
| HEATR3HEAT repeat containing 3 | Usein (30–79%) | 1 sairaudessa |
| KICS2KICSTOR subunit 2 | Usein (30–79%) | 1 sairaudessa |
| KIF22kinesin family member 22 | Usein (30–79%) | 1 sairaudessa |
| LMBRD1LMBR1 domain containing 1 | Usein (30–79%) | 1 sairaudessa |
| MAPKAPK5MAPK activated protein kinase 5 | Usein (30–79%) | 1 sairaudessa |
| MAU2MAU2 sister chromatid cohesion factor | Usein (30–79%) | 1 sairaudessa |
| MEG3maternally expressed 3 | Usein (30–79%) | 2 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Usein (30–79%) | 1 sairaudessa |
| NCAPD3non-SMC condensin II complex subunit D3 | Usein (30–79%) | 1 sairaudessa |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Usein (30–79%) | 1 sairaudessa |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Usein (30–79%) | 1 sairaudessa |
| NGLY1N-glycanase 1 | Usein (30–79%) | 1 sairaudessa |
| NKX3-2NK3 homeobox 2 | Usein (30–79%) | 1 sairaudessa |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Usein (30–79%) | 1 sairaudessa |
| OTUD5OTU deubiquitinase 5 | Usein (30–79%) | 1 sairaudessa |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Usein (30–79%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Usein (30–79%) | 2 sairaudessa |
| POLR1ARNA polymerase I subunit A | Usein (30–79%) | 1 sairaudessa |
| PPFIBP1PPFIB scaffold protein 1 | Usein (30–79%) | 1 sairaudessa |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Usein (30–79%) | 1 sairaudessa |
| PQBP1polyglutamine binding protein 1 | Usein (30–79%) | 1 sairaudessa |
| PRDX1peroxiredoxin 1 | Usein (30–79%) | 1 sairaudessa |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Usein (30–79%) | 1 sairaudessa |
| PTS6-pyruvoyltetrahydropterin synthase | Usein (30–79%) | 1 sairaudessa |
| RBMXRNA binding motif protein X-linked | Usein (30–79%) | 1 sairaudessa |
| RECQL4RecQ like helicase 4 | Usein (30–79%) | 2 sairaudessa |
| RNU6ATACRNA, U6atac small nuclear | Usein (30–79%) | 1 sairaudessa |
| RPL11ribosomal protein L11 | Usein (30–79%) | 1 sairaudessa |
| RPL15ribosomal protein L15 | Usein (30–79%) | 1 sairaudessa |
| RPL18ribosomal protein L18 | Usein (30–79%) | 1 sairaudessa |
| RPL26ribosomal protein L26 | Usein (30–79%) | 1 sairaudessa |
| RPL27ribosomal protein L27 | Usein (30–79%) | 1 sairaudessa |
| RPL31ribosomal protein L31 | Usein (30–79%) | 1 sairaudessa |
| RPL35ribosomal protein L35 | Usein (30–79%) | 1 sairaudessa |
| RPL35Aribosomal protein L35a | Usein (30–79%) | 1 sairaudessa |
| RPL5ribosomal protein L5 | Usein (30–79%) | 1 sairaudessa |
| RPL8ribosomal protein L8 | Usein (30–79%) | 1 sairaudessa |
| RPL9ribosomal protein L9 | Usein (30–79%) | 1 sairaudessa |
| RPS10ribosomal protein S10 | Usein (30–79%) | 1 sairaudessa |
| RPS15Aribosomal protein S15a | Usein (30–79%) | 1 sairaudessa |
| RPS17ribosomal protein S17 | Usein (30–79%) | 1 sairaudessa |
| RPS19ribosomal protein S19 | Usein (30–79%) | 1 sairaudessa |
| RPS20ribosomal protein S20 | Usein (30–79%) | 1 sairaudessa |
| RPS24ribosomal protein S24 | Usein (30–79%) | 1 sairaudessa |
| RPS26ribosomal protein S26 | Usein (30–79%) | 1 sairaudessa |
| RPS27ribosomal protein S27 | Usein (30–79%) | 1 sairaudessa |
| RPS28ribosomal protein S28 | Usein (30–79%) | 1 sairaudessa |
| RPS29ribosomal protein S29 | Usein (30–79%) | 1 sairaudessa |
| RPS7ribosomal protein S7 | Usein (30–79%) | 1 sairaudessa |
| RTL1retrotransposon Gag like 1 | Usein (30–79%) | 2 sairaudessa |
| SHROOM4shroom family member 4 | Usein (30–79%) | 1 sairaudessa |
| SIN3ASIN3 transcription regulator family member A | Usein (30–79%) | 2 sairaudessa |
| SIX2SIX homeobox 2 | Usein (30–79%) | 1 sairaudessa |
| SKIC3SKI3 subunit of superkiller complex | Usein (30–79%) | 2 sairaudessa |
| SLC35C1solute carrier family 35 member C1 | Usein (30–79%) | 1 sairaudessa |
| SLC4A10solute carrier family 4 member 10 | Usein (30–79%) | 1 sairaudessa |
| SMAD4SMAD family member 4 | Usein (30–79%) | 1 sairaudessa |
| SNIP1Smad nuclear interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| STAMBPSTAM binding protein | Usein (30–79%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Usein (30–79%) | 2 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Usein (30–79%) | 1 sairaudessa |
| TONSLtonsoku like, DNA repair protein | Usein (30–79%) | 1 sairaudessa |
| TRMT1tRNA methyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| TSR2TSR2 ribosome maturation factor | Usein (30–79%) | 1 sairaudessa |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Usein (30–79%) | 1 sairaudessa |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Usein (30–79%) | 1 sairaudessa |
| VPS33BVPS33B late endosome and lysosome associated | Usein (30–79%) | 1 sairaudessa |
| WDR83OSWD repeat domain 83 opposite strand | Usein (30–79%) | 1 sairaudessa |
| WSB2WD repeat and SOCS box containing 2 | Usein (30–79%) | 1 sairaudessa |
| ACADVLacyl-CoA dehydrogenase very long chain | Joskus (5–29%) | 1 sairaudessa |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Joskus (5–29%) | 1 sairaudessa |
| B4GALT1beta-1,4-galactosyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Joskus (5–29%) | 1 sairaudessa |
| CARS1cysteinyl-tRNA synthetase 1 | Joskus (5–29%) | 1 sairaudessa |
| CCNQcyclin Q | Joskus (5–29%) | 1 sairaudessa |
| CLTCL1clathrin heavy chain like 1 | Joskus (5–29%) | 1 sairaudessa |
| CORINcorin, serine peptidase | Joskus (5–29%) | 1 sairaudessa |
| CRLS1cardiolipin synthase 1 | Joskus (5–29%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Joskus (5–29%) | 1 sairaudessa |
| DSTdystonin | Joskus (5–29%) | 1 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| EPCAMepithelial cell adhesion molecule | Joskus (5–29%) | 1 sairaudessa |
| FLT1fms related receptor tyrosine kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| GALK1galactokinase 1 | Joskus (5–29%) | 1 sairaudessa |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Joskus (5–29%) | 2 sairaudessa |
| HNF1AHNF1 homeobox A | Joskus (5–29%) | 1 sairaudessa |
| IRF6interferon regulatory factor 6 | Joskus (5–29%) | 1 sairaudessa |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM2Blysine demethylase 2B | Joskus (5–29%) | 1 sairaudessa |
| LRPPRCleucine rich pentatricopeptide repeat containing | Joskus (5–29%) | 1 sairaudessa |
| MAGEL2MAGE family member L2 | Joskus (5–29%) | 3 sairaudessa |
| MPV17mitochondrial inner membrane protein MPV17 | Joskus (5–29%) | 1 sairaudessa |
| MSX1msh homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| NDNnecdin, MAGE family member | Joskus (5–29%) | 3 sairaudessa |
| NECTIN1nectin cell adhesion molecule 1 | Joskus (5–29%) | 1 sairaudessa |
| NSMCE3NSE3 component of SMC5/6 complex | Joskus (5–29%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Joskus (5–29%) | 3 sairaudessa |
| PAX2paired box 2 | Joskus (5–29%) | 1 sairaudessa |
| PBX1PBX homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Joskus (5–29%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Joskus (5–29%) | 1 sairaudessa |
| SALL1spalt like transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Joskus (5–29%) | 3 sairaudessa |
| SPRsepiapterin reductase | Joskus (5–29%) | 1 sairaudessa |
| STAG1STAG1 cohesin complex component | Joskus (5–29%) | 1 sairaudessa |
| STOX1storkhead box 1 | Joskus (5–29%) | 1 sairaudessa |
| TAF11TATA-box binding protein associated factor 11 | Joskus (5–29%) | 1 sairaudessa |
| THOC2THO complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| TP63tumor protein p63 | Joskus (5–29%) | 1 sairaudessa |
| WBP4WW domain binding protein 4 | Joskus (5–29%) | 1 sairaudessa |
| YY1YY1 transcription factor | Joskus (5–29%) | 1 sairaudessa |
| ZNF699zinc finger protein 699 | Joskus (5–29%) | 1 sairaudessa |
| ABCB11ATP binding cassette subfamily B member 11 | Harvinainen (1–4 %) | 1 sairaudessa |
| ABCB4ATP binding cassette subfamily B member 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| ARandrogen receptor | Harvinainen (1–4 %) | 1 sairaudessa |
| ATP8B1ATPase phospholipid transporting 8B1 | Harvinainen (1–4 %) | 1 sairaudessa |
| CYB5Acytochrome b5 type A | Harvinainen (1–4 %) | 1 sairaudessa |
| CYB5R3cytochrome b5 reductase 3 | Harvinainen (1–4 %) | 1 sairaudessa |
| MAMLD1mastermind like domain containing 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| MED16mediator complex subunit 16 | Harvinainen (1–4 %) | 1 sairaudessa |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC16A2solute carrier family 16 member 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Ei kirjattu | 1 sairaudessa |
| CNTN1contactin 1 | Ei kirjattu | 1 sairaudessa |
| COL1A1collagen type I alpha 1 chain | Ei kirjattu | 1 sairaudessa |
| COL1A2collagen type I alpha 2 chain | Ei kirjattu | 1 sairaudessa |
| COQ7coenzyme Q7, hydroxylase | Ei kirjattu | 1 sairaudessa |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Ei kirjattu | 1 sairaudessa |
| CUL7cullin 7 | Ei kirjattu | 1 sairaudessa |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ei kirjattu | 1 sairaudessa |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Ei kirjattu | 1 sairaudessa |
| FAM111AFAM111 trypsin like peptidase A | Ei kirjattu | 1 sairaudessa |
| FANCAFA complementation group A | Ei kirjattu | 1 sairaudessa |
| FANCCFA complementation group C | Ei kirjattu | 1 sairaudessa |
| FANCEFA complementation group E | Ei kirjattu | 1 sairaudessa |
| FLCNfolliculin | Ei kirjattu | 1 sairaudessa |
| GKglycerol kinase | Ei kirjattu | 1 sairaudessa |
| GTF2E2general transcription factor IIE subunit 2 | Ei kirjattu | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ei kirjattu | 1 sairaudessa |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Ei kirjattu | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ei kirjattu | 1 sairaudessa |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Ei kirjattu | 1 sairaudessa |
| INSinsulin | Ei kirjattu | 1 sairaudessa |
| INSRinsulin receptor | Ei kirjattu | 1 sairaudessa |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ei kirjattu | 1 sairaudessa |
| MTO1mitochondrial tRNA translation optimization 1 | Ei kirjattu | 1 sairaudessa |
| MUSKmuscle associated receptor tyrosine kinase | Ei kirjattu | 1 sairaudessa |
| MYH3myosin heavy chain 3 | Ei kirjattu | 1 sairaudessa |
| NPHS1NPHS1 adhesion molecule, nephrin | Ei kirjattu | 1 sairaudessa |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ei kirjattu | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ei kirjattu | 1 sairaudessa |
| PORcytochrome p450 oxidoreductase | Ei kirjattu | 1 sairaudessa |
| PTF1Apancreas associated transcription factor 1a | Ei kirjattu | 1 sairaudessa |
| RAI1retinoic acid induced 1 | Ei kirjattu | 1 sairaudessa |
| SBDSSBDS ribosome maturation factor | Ei kirjattu | 1 sairaudessa |
| SRP54signal recognition particle 54 | Ei kirjattu | 1 sairaudessa |
| TALDO1transaldolase 1 | Ei kirjattu | 1 sairaudessa |
| TAPT1transmembrane anterior posterior transformation 1 | Ei kirjattu | 1 sairaudessa |
| THRBthyroid hormone receptor beta | Ei kirjattu | 1 sairaudessa |
| TMEM70transmembrane protein 70 | Ei kirjattu | 1 sairaudessa |
| TRAIPTRAF interacting protein | Ei kirjattu | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Ei kirjattu | 1 sairaudessa |
| WDR73WD repeat domain 73 | Ei kirjattu | 1 sairaudessa |
| ZNF335zinc finger protein 335 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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