Træk
High blood pressure
Klinisk navn: Hypertension
The presence of chronic increased pressure in the systemic arterial system.
Resumé
- Også kaldet
- Arterial hypertension, Systemic hypertension
- Kropssystem
- Abnormality of the cardiovascular system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test441 gener knyttet til High blood pressure
Ændringer i disse gener forårsager sjældne tilstande, hvor High blood pressure 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 |
|---|---|---|
| ACTN4actinin alpha 4 | Altid | I 1 tilstand |
| ADRA2Aadrenoceptor alpha 2A | Altid | I 1 tilstand |
| APOA1apolipoprotein A1 | Altid | I 1 tilstand |
| APOA4apolipoprotein A4 | Altid | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Altid | I 2 tilstande |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Altid | I 2 tilstande |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Altid | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Altid | I 1 tilstand |
| CEP19centrosomal protein 19 | Altid | I 2 tilstande |
| CIDECcell death inducing DFFA like effector c | Altid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altid | I 1 tilstand |
| CLCN2chloride voltage-gated channel 2 | Altid | I 2 tilstande |
| CORINcorin, serine peptidase | Altid | I 2 tilstande |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Altid | I 1 tilstand |
| DYRK1Bdual specificity tyrosine phosphorylation regulated kinase 1B | Altid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Altid | I 1 tilstand |
| EGFRepidermal growth factor receptor | Altid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 2 tilstande |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 3 tilstande |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Altid | I 2 tilstande |
| HMOX1heme oxygenase 1 | Altid | I 2 tilstande |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Altid | I 2 tilstande |
| HSPB8heat shock protein family B (small) member 8 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 3 tilstande |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Altid | I 2 tilstande |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Altid | I 2 tilstande |
| LYZlysozyme | Altid | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Altid | I 1 tilstand |
| MDM2MDM2 proto-oncogene | Altid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Altid | I 1 tilstand |
| OAS22'-5'-oligoadenylate synthetase 2 | Altid | I 1 tilstand |
| PDE3Aphosphodiesterase 3A | Altid | I 2 tilstande |
| PLD4phospholipase D family member 4 | Altid | I 1 tilstand |
| PLIN1perilipin 1 | Altid | I 2 tilstande |
| PPARGperoxisome proliferator activated receptor gamma | Altid | I 2 tilstande |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Altid | I 4 tilstande |
Vis 401 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PSKH1protein serine kinase H1 | Altid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Altid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Altid | I 1 tilstand |
| RDH8retinol dehydrogenase 8 | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| SCNN1Asodium channel epithelial 1 subunit alpha | Altid | I 2 tilstande |
| SCNN1Bsodium channel epithelial 1 subunit beta | Altid | I 2 tilstande |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Altid | I 2 tilstande |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Altid | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Altid | I 2 tilstande |
| WASWASP actin nucleation promoting factor | Altid | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Altid | I 1 tilstand |
| CEP164centrosomal protein 164 | Meget ofte (80–99 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Meget ofte (80–99 %) | I 2 tilstande |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Meget ofte (80–99 %) | I 4 tilstande |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DZIP1LDAZ interacting zinc finger protein 1 like | Meget ofte (80–99 %) | I 2 tilstande |
| FLT1fms related receptor tyrosine kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FN1fibronectin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| IFT54intraflagellar transport 54 | Meget ofte (80–99 %) | I 1 tilstand |
| INVSinversin | Meget ofte (80–99 %) | I 2 tilstande |
| IQCB1IQ motif containing B1 | Meget ofte (80–99 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 5 tilstande |
| LMX1BLIM homeobox transcription factor 1 beta | Meget ofte (80–99 %) | I 1 tilstand |
| NEK8NIMA related kinase 8 | Meget ofte (80–99 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| NPHP3nephrocystin 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Meget ofte (80–99 %) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Meget ofte (80–99 %) | I 2 tilstande |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Meget ofte (80–99 %) | I 2 tilstande |
| STOX1storkhead box 1 | Meget ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Ofte (30–79 %) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ofte (30–79 %) | I 5 tilstande |
| ABCG5ATP binding cassette subfamily G member 5 | Ofte (30–79 %) | I 1 tilstand |
| ABCG8ATP binding cassette subfamily G member 8 | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Ofte (30–79 %) | I 2 tilstande |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 3 tilstande |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 3 tilstande |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstande |
| ANGPTL6angiopoietin like 6 | Ofte (30–79 %) | I 1 tilstand |
| APOBapolipoprotein B | Ofte (30–79 %) | I 1 tilstand |
| APRTadenine phosphoribosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 2 tilstande |
| ARMC5armadillo repeat containing 5 | Ofte (30–79 %) | I 2 tilstande |
| ASLargininosuccinate lyase | Ofte (30–79 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 1 tilstand |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstande |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| BICC1BicC family RNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| C3complement C3 | Ofte (30–79 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Ofte (30–79 %) | I 1 tilstand |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Ofte (30–79 %) | I 1 tilstand |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Ofte (30–79 %) | I 1 tilstand |
| CCND1cyclin D1 | Ofte (30–79 %) | I 2 tilstande |
| CD46CD46 molecule | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 2 tilstande |
| CDKN2Acyclin dependent kinase inhibitor 2A | Ofte (30–79 %) | I 1 tilstand |
| CELA2Achymotrypsin like elastase 2A | Ofte (30–79 %) | I 1 tilstand |
| CEP83centrosomal protein 83 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 1 tilstand |
| CFBcomplement factor B | Ofte (30–79 %) | I 1 tilstand |
| CFIcomplement factor I | Ofte (30–79 %) | I 1 tilstand |
| CLDN16claudin 16 | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL4A5collagen type IV alpha 5 chain | Ofte (30–79 %) | I 2 tilstande |
| CR2complement C3d receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Ofte (30–79 %) | I 2 tilstande |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CTSAcathepsin A | Ofte (30–79 %) | I 1 tilstand |
| CTSHcathepsin H | Ofte (30–79 %) | I 1 tilstand |
| DCDC2doublecortin domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| DGKEdiacylglycerol kinase epsilon | Ofte (30–79 %) | I 1 tilstand |
| DLSTdihydrolipoamide S-succinyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Ofte (30–79 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DNASE1deoxyribonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Ofte (30–79 %) | I 1 tilstand |
| DSTdystonin | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 4 tilstande |
| ELP1elongator acetyltransferase complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| ENGendoglin | Ofte (30–79 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ofte (30–79 %) | I 3 tilstande |
| EPAS1endothelial PAS domain protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstande |
| ETS1ETS proto-oncogene 1, transcription factor | Ofte (30–79 %) | I 1 tilstand |
| EXOSC2exosome component 2 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 4 tilstande |
| FCGR2BFc gamma receptor IIb | Ofte (30–79 %) | I 1 tilstand |
| FCGR3BFc gamma receptor IIIb | Ofte (30–79 %) | I 1 tilstand |
| FHfumarate hydratase | Ofte (30–79 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Ofte (30–79 %) | I 1 tilstand |
| GANABglucosidase II alpha subunit | Ofte (30–79 %) | I 2 tilstande |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GNASGNAS complex locus | Ofte (30–79 %) | I 3 tilstande |
| GPR101G protein-coupled receptor 101 | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| H4C3H4 clustered histone 3 | Ofte (30–79 %) | I 1 tilstand |
| H6PDhexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| HCRThypocretin neuropeptide precursor | Ofte (30–79 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Ofte (30–79 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Ofte (30–79 %) | I 1 tilstand |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 2 tilstande |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 2 tilstande |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 1 tilstand |
| HSD11B1hydroxysteroid 11-beta dehydrogenase 1 | Ofte (30–79 %) | I 1 tilstand |
| HTRA1HtrA serine peptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ofte (30–79 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Ofte (30–79 %) | I 1 tilstand |
| IL10interleukin 10 | Ofte (30–79 %) | I 1 tilstand |
| IL12Binterleukin 12B | Ofte (30–79 %) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Ofte (30–79 %) | I 1 tilstand |
| ITGAMintegrin subunit alpha M | Ofte (30–79 %) | I 1 tilstand |
| JAZF1JAZF zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| KIAA0319LKIAA0319 like | Ofte (30–79 %) | I 1 tilstand |
| KIF1Bkinesin family member 1B | Ofte (30–79 %) | I 2 tilstande |
| LDLRlow density lipoprotein receptor | Ofte (30–79 %) | I 1 tilstand |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LIPElipase E, hormone sensitive type | Ofte (30–79 %) | I 1 tilstand |
| LOXlysyl oxidase | Ofte (30–79 %) | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| MEF2Amyocyte enhancer factor 2A | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MOGmyelin oligodendrocyte glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Ofte (30–79 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 3 tilstande |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH1notch receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Ofte (30–79 %) | I 3 tilstande |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 1 tilstand |
| P2RY11purinergic receptor P2Y11 | Ofte (30–79 %) | I 1 tilstand |
| PAX2paired box 2 | Ofte (30–79 %) | I 2 tilstande |
| PBX1PBX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Ofte (30–79 %) | I 1 tilstand |
| PDCD1programmed cell death 1 | Ofte (30–79 %) | I 1 tilstand |
| PKD1polycystin 1, transient receptor potential channel interacting | Ofte (30–79 %) | I 2 tilstande |
| PKD2polycystin 2, transient receptor potential cation channel | Ofte (30–79 %) | I 2 tilstande |
| PLAAT3phospholipase A and acyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 2 tilstande |
| PRKG1protein kinase cGMP-dependent 1 | Ofte (30–79 %) | I 1 tilstand |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 2 tilstande |
| PXKPX domain containing serine/threonine kinase like | Ofte (30–79 %) | I 1 tilstand |
| RETret proto-oncogene | Ofte (30–79 %) | I 3 tilstande |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| ROBO4roundabout guidance receptor 4 | Ofte (30–79 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Bsodium voltage-gated channel beta subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 2 tilstande |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 3 tilstande |
| SDHCsuccinate dehydrogenase complex subunit C | Ofte (30–79 %) | I 2 tilstande |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 2 tilstande |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Ofte (30–79 %) | I 2 tilstande |
| SLC35A2solute carrier family 35 member A2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Ofte (30–79 %) | I 3 tilstande |
| SMAD6SMAD family member 6 | Ofte (30–79 %) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| SPRY2sprouty RTK signaling antagonist 2 | Ofte (30–79 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR3transforming growth factor beta receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| THBDthrombomodulin | Ofte (30–79 %) | I 1 tilstand |
| THSD1thrombospondin type 1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| THSD4thrombospondin type 1 domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| TLR7toll like receptor 7 | Ofte (30–79 %) | I 1 tilstand |
| TMEM127transmembrane protein 127 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstande |
| TNFAIP3TNF alpha induced protein 3 | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF11ATNF receptor superfamily member 11a | Ofte (30–79 %) | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Ofte (30–79 %) | I 1 tilstand |
| TNFSF4TNF superfamily member 4 | Ofte (30–79 %) | I 2 tilstande |
| TNIP1TNFAIP3 interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TP53tumor protein p53 | Ofte (30–79 %) | I 2 tilstande |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Ofte (30–79 %) | I 1 tilstand |
| UMODuromodulin | Ofte (30–79 %) | I 1 tilstand |
| USP48ubiquitin specific peptidase 48 | Ofte (30–79 %) | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ofte (30–79 %) | I 2 tilstande |
| VHLvon Hippel-Lindau tumor suppressor | Ofte (30–79 %) | I 4 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 4 tilstande |
| XPNPEP3X-prolyl aminopeptidase 3 | Ofte (30–79 %) | I 1 tilstand |
| YY1AP1YY1 associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ZNF365zinc finger protein 365 | Ofte (30–79 %) | I 1 tilstand |
| ZNRF3zinc and ring finger 3 | Ofte (30–79 %) | I 1 tilstand |
| ABCB4ATP binding cassette subfamily B member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL4ADAMTS like 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Nogle gange (5–29 %) | I 2 tilstande |
| ALX4ALX homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Nogle gange (5–29 %) | I 1 tilstand |
| BNC2basonuclin zinc finger protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Nogle gange (5–29 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Nogle gange (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Nogle gange (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EDAectodysplasin A | Nogle gange (5–29 %) | I 1 tilstand |
| EDA2Rectodysplasin A2 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Nogle gange (5–29 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLAgalactosidase alpha | Nogle gange (5–29 %) | I 2 tilstande |
| GPC3glypican 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HPSE2heparanase 2 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| HRHR lysine demethylase and nuclear receptor corepressor | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFNGinterferon gamma | Nogle gange (5–29 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MC4Rmelanocortin 4 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Nogle gange (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 2 tilstande |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Nogle gange (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Nogle gange (5–29 %) | I 2 tilstande |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 2 tilstande |
| PDE11Aphosphodiesterase 11A | Nogle gange (5–29 %) | I 2 tilstande |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Nogle gange (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nogle gange (5–29 %) | I 1 tilstand |
| POU3F4POU class 3 homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Nogle gange (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RESTRE1 silencing transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Nogle gange (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC37A4solute carrier family 37 member 4 | Nogle gange (5–29 %) | I 3 tilstande |
| SLC7A7solute carrier family 7 member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM28tripartite motif containing 28 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Nogle gange (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WRNWRN RecQ like helicase | Nogle gange (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sjældent (1–4%) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sjældent (1–4%) | I 1 tilstand |
| LMO1LIM domain only 1 | Sjældent (1–4%) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sjældent (1–4%) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Sjældent (1–4%) | I 1 tilstand |
| ACVRL1activin A receptor like type 1 | Ikke registreret | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registreret | I 1 tilstand |
| BMPR2bone morphogenetic protein receptor type 2 | Ikke registreret | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| CD2APCD2 associated protein | Ikke registreret | I 1 tilstand |
| CFHcomplement factor H | Ikke registreret | I 1 tilstand |
| CFHR1complement factor H related 1 | Ikke registreret | I 1 tilstand |
| CFHR3complement factor H related 3 | Ikke registreret | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ikke registreret | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registreret | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Ikke registreret | I 2 tilstande |
| COL4A4collagen type IV alpha 4 chain | Ikke registreret | I 2 tilstande |
| COQ7coenzyme Q7, hydroxylase | Ikke registreret | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registreret | I 1 tilstand |
| CUL3cullin 3 | Ikke registreret | I 1 tilstand |
| CYP21A2cytochrome P450 family 21 subfamily A member 2 | Ikke registreret | I 1 tilstand |
| EPORerythropoietin receptor | Ikke registreret | I 1 tilstand |
| FGAfibrinogen alpha chain | Ikke registreret | I 1 tilstand |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Ikke registreret | I 1 tilstand |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| HBBhemoglobin subunit beta | Ikke registreret | I 1 tilstand |
| INF2inverted formin 2 | Ikke registreret | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Ikke registreret | I 1 tilstand |
| KLHL3kelch like family member 3 | Ikke registreret | I 1 tilstand |
| KRT18keratin 18 | Ikke registreret | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Ikke registreret | I 1 tilstand |
| MGPmatrix Gla protein | Ikke registreret | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ikke registreret | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registreret | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registreret | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ikke registreret | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ikke registreret | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ikke registreret | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registreret | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registreret | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registreret | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ikke registreret | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registreret | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ikke registreret | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registreret | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registreret | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registreret | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ikke registreret | I 1 tilstand |
| MUC1mucin 1, cell surface associated | Ikke registreret | I 1 tilstand |
| NFIXnuclear factor I X | Ikke registreret | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registreret | I 1 tilstand |
| NR3C2nuclear receptor subfamily 3 group C member 2 | Ikke registreret | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| SERPINA6serpin family A member 6 | Ikke registreret | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Ikke registreret | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Ikke registreret | I 1 tilstand |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Ikke registreret | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registreret | I 1 tilstand |
| WNK4WNK lysine deficient protein kinase 4 | 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.
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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.
Én test. Svar for hele livet.
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