AtlasHvem vi hjælperVores videnskabProdukterResultater
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Træk
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.
Resumé
- Også kaldet
- Birth weight less than 10th percentile, Low birth weight
- Kropssystem
- Growth abnormality
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/small-for-gestational-age.json"
page <- fromJSON(url)
page$trait$nameSmall for gestational ageHP:0001518
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Læs de gener, der er knyttet til Small for gestational age, og resten af dit genom, med én test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test300 gener knyttet til Small for gestational age
Ændringer i disse gener forårsager sjældne tilstande, hvor Small for gestational age ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Altid | I 2 tilstande |
| ACTBactin beta | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| BLMBLM RecQ like helicase | Altid | I 2 tilstande |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Altid | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Altid | I 1 tilstand |
| CDAN1codanin 1 | Altid | I 1 tilstand |
| CENPEcentromere protein E | Altid | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Altid | I 1 tilstand |
| COX20cytochrome c oxidase assembly factor COX20 | Altid | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Altid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 1 tilstand |
| DHX9DExH-box helicase 9 | Altid | I 1 tilstand |
| DNM2dynamin 2 | Altid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 2 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Altid | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 2 tilstande |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| GCKglucokinase | Altid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Altid | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altid | I 1 tilstand |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| GTF2H4general transcription factor IIH subunit 4 | Altid | I 1 tilstand |
| GUK1guanylate kinase 1 | Altid | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Altid | I 2 tilstande |
| IARS1isoleucyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| IGF2insulin like growth factor 2 | Altid | I 5 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| LIG4DNA ligase 4 | Altid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 1 tilstand |
| MRPS16mitochondrial ribosomal protein S16 | Altid | I 1 tilstand |
| NCAPD2non-SMC condensin I complex subunit D2 | Altid | I 1 tilstand |
Vis 260 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| NCAPHnon-SMC condensin I complex subunit H | Altid | I 1 tilstand |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NUDT2nudix hydrolase 2 | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Altid | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Altid | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Altid | I 1 tilstand |
| PET100PET100 cytochrome c oxidase chaperone | Altid | I 1 tilstand |
| POC1APOC1 centriolar protein A | Altid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Altid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altid | I 1 tilstand |
| PTCD3pentatricopeptide repeat domain 3 | Altid | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Altid | I 2 tilstande |
| RBBP8RB binding protein 8, endonuclease | Altid | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Altid | I 1 tilstand |
| SEC61A1SEC61 translocon subunit alpha 1 | Altid | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Altid | I 2 tilstande |
| SLC12A1solute carrier family 12 member 1 | Altid | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Altid | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Altid | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Altid | I 2 tilstande |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Altid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TAF13TATA-box binding protein associated factor 13 | Altid | I 1 tilstand |
| TIMM22translocase of inner mitochondrial membrane 22 | Altid | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Altid | I 1 tilstand |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Altid | I 1 tilstand |
| YIPF5Yip1 domain family member 5 | Altid | I 1 tilstand |
| ZNF668zinc finger protein 668 | Altid | I 1 tilstand |
| ZNF808zinc finger protein 808 | Altid | I 1 tilstand |
| ASCL1achaete-scute family bHLH transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Meget ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Meget ofte (80–99 %) | I 3 tilstande |
| FANCD2FA complementation group D2 | Meget ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FZD4frizzled class receptor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Meget ofte (80–99 %) | I 2 tilstande |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 1 tilstand |
| IGF1insulin like growth factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Meget ofte (80–99 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Meget ofte (80–99 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PHOX2Bpaired like homeobox 2B | Meget ofte (80–99 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Meget ofte (80–99 %) | I 2 tilstande |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Meget ofte (80–99 %) | I 2 tilstande |
| RETret proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Meget ofte (80–99 %) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Meget ofte (80–99 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Meget ofte (80–99 %) | I 2 tilstande |
| ZFP57ZFP57 zinc finger protein | Meget ofte (80–99 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| AK2adenylate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| ALBalbumin | Ofte (30–79 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| BSNDbarttin CLCNK type accessory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ofte (30–79 %) | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ofte (30–79 %) | I 1 tilstand |
| CNOT1CCR4-NOT transcription complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 2 tilstande |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Ofte (30–79 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Ofte (30–79 %) | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Ofte (30–79 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KIF22kinesin family member 22 | Ofte (30–79 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| MAPKAPK5MAPK activated protein kinase 5 | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstande |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 1 tilstand |
| NCAPD3non-SMC condensin II complex subunit D3 | Ofte (30–79 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Ofte (30–79 %) | I 1 tilstand |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Ofte (30–79 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Ofte (30–79 %) | I 1 tilstand |
| RBMXRNA binding motif protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ofte (30–79 %) | I 2 tilstande |
| RNU6ATACRNA, U6atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Ofte (30–79 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Ofte (30–79 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Ofte (30–79 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Ofte (30–79 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Ofte (30–79 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Ofte (30–79 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Ofte (30–79 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Ofte (30–79 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Ofte (30–79 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Ofte (30–79 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Ofte (30–79 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Ofte (30–79 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Ofte (30–79 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Ofte (30–79 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Ofte (30–79 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Ofte (30–79 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Ofte (30–79 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Ofte (30–79 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Ofte (30–79 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Ofte (30–79 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Ofte (30–79 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstande |
| SHROOM4shroom family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstande |
| SIX2SIX homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ofte (30–79 %) | I 2 tilstande |
| SLC35C1solute carrier family 35 member C1 | Ofte (30–79 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| STAMBPSTAM binding protein | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 2 tilstande |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Ofte (30–79 %) | I 1 tilstand |
| TRMT1tRNA methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| UQCRC2ubiquinol-cytochrome c reductase core protein 2 | Ofte (30–79 %) | I 1 tilstand |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ofte (30–79 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Nogle gange (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCNQcyclin Q | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCL1clathrin heavy chain like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CORINcorin, serine peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DSTdystonin | Nogle gange (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| FLT1fms related receptor tyrosine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GALK1galactokinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Nogle gange (5–29 %) | I 2 tilstande |
| HNF1AHNF1 homeobox A | Nogle gange (5–29 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Nogle gange (5–29 %) | I 3 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Nogle gange (5–29 %) | I 1 tilstand |
| MSX1msh homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Nogle gange (5–29 %) | I 3 tilstande |
| NECTIN1nectin cell adhesion molecule 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSMCE3NSE3 component of SMC5/6 complex | Nogle gange (5–29 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Nogle gange (5–29 %) | I 3 tilstande |
| PAX2paired box 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PBX1PBX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 3 tilstande |
| SPRsepiapterin reductase | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| STOX1storkhead box 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Nogle gange (5–29 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ABCB11ATP binding cassette subfamily B member 11 | Sjældent (1–4%) | I 1 tilstand |
| ABCB4ATP binding cassette subfamily B member 4 | Sjældent (1–4%) | I 1 tilstand |
| ARandrogen receptor | Sjældent (1–4%) | I 1 tilstand |
| ATP8B1ATPase phospholipid transporting 8B1 | Sjældent (1–4%) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Sjældent (1–4%) | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Sjældent (1–4%) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| MED16mediator complex subunit 16 | Sjældent (1–4%) | I 1 tilstand |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Sjældent (1–4%) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Sjældent (1–4%) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Ikke registreret | I 1 tilstand |
| CNTN1contactin 1 | Ikke registreret | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registreret | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ikke registreret | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registreret | I 1 tilstand |
| CREB3L1cAMP responsive element binding protein 3 like 1 | Ikke registreret | I 1 tilstand |
| CUL7cullin 7 | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Ikke registreret | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ikke registreret | I 1 tilstand |
| FANCAFA complementation group A | Ikke registreret | I 1 tilstand |
| FANCCFA complementation group C | Ikke registreret | I 1 tilstand |
| FANCEFA complementation group E | Ikke registreret | I 1 tilstand |
| FLCNfolliculin | Ikke registreret | I 1 tilstand |
| GKglycerol kinase | Ikke registreret | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Ikke registreret | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ikke registreret | I 1 tilstand |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Ikke registreret | I 1 tilstand |
| INSinsulin | Ikke registreret | I 1 tilstand |
| INSRinsulin receptor | Ikke registreret | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registreret | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ikke registreret | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Ikke registreret | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ikke registreret | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ikke registreret | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ikke registreret | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Ikke registreret | I 1 tilstand |
| RAI1retinoic acid induced 1 | Ikke registreret | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Ikke registreret | I 1 tilstand |
| SRP54signal recognition particle 54 | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| THRBthyroid hormone receptor beta | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TRAIPTRAF interacting protein | Ikke registreret | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| ZNF335zinc finger protein 335 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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