Egenskap
High blood pressure
Klinisk navn: Hypertension
The presence of chronic increased pressure in the systemic arterial system.
Sammendrag
- Også kalt
- Arterial hypertension, Systemic hypertension
- Kroppssystem
- Abnormality of the cardiovascular system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der High blood pressure forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACTN4actinin alpha 4 | Alltid | I 1 tilstand |
| ADRA2Aadrenoceptor alpha 2A | Alltid | I 1 tilstand |
| APOA1apolipoprotein A1 | Alltid | I 1 tilstand |
| APOA4apolipoprotein A4 | Alltid | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Alltid | I 2 tilstander |
| CACNA1Dcalcium voltage-gated channel subunit alpha1 D | Alltid | I 2 tilstander |
| CACNA1Hcalcium voltage-gated channel subunit alpha1 H | Alltid | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Alltid | I 1 tilstand |
| CEP19centrosomal protein 19 | Alltid | I 2 tilstander |
| CIDECcell death inducing DFFA like effector c | Alltid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alltid | I 1 tilstand |
| CLCN2chloride voltage-gated channel 2 | Alltid | I 2 tilstander |
| CORINcorin, serine peptidase | Alltid | I 2 tilstander |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Alltid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Alltid | I 1 tilstand |
| DYRK1Bdual specificity tyrosine phosphorylation regulated kinase 1B | Alltid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Alltid | I 1 tilstand |
| EGFRepidermal growth factor receptor | Alltid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 2 tilstander |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 3 tilstander |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Alltid | I 2 tilstander |
| HMOX1heme oxygenase 1 | Alltid | I 2 tilstander |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Alltid | I 2 tilstander |
| HSPB8heat shock protein family B (small) member 8 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 3 tilstander |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Alltid | I 2 tilstander |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Alltid | I 2 tilstander |
| LYZlysozyme | Alltid | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Alltid | I 1 tilstand |
| MDM2MDM2 proto-oncogene | Alltid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Alltid | I 1 tilstand |
| OAS22'-5'-oligoadenylate synthetase 2 | Alltid | I 1 tilstand |
| PDE3Aphosphodiesterase 3A | Alltid | I 2 tilstander |
| PLD4phospholipase D family member 4 | Alltid | I 1 tilstand |
| PLIN1perilipin 1 | Alltid | I 2 tilstander |
| PPARGperoxisome proliferator activated receptor gamma | Alltid | I 2 tilstander |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alltid | I 4 tilstander |
Vis 401 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PSKH1protein serine kinase H1 | Alltid | I 1 tilstand |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Alltid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Alltid | I 1 tilstand |
| RDH8retinol dehydrogenase 8 | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| SCNN1Asodium channel epithelial 1 subunit alpha | Alltid | I 2 tilstander |
| SCNN1Bsodium channel epithelial 1 subunit beta | Alltid | I 2 tilstander |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Alltid | I 2 tilstander |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Alltid | I 2 tilstander |
| WASWASP actin nucleation promoting factor | Alltid | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | Alltid | I 1 tilstand |
| CEP164centrosomal protein 164 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Svært ofte (80–99 %) | I 2 tilstander |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Svært ofte (80–99 %) | I 4 tilstander |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DZIP1LDAZ interacting zinc finger protein 1 like | Svært ofte (80–99 %) | I 2 tilstander |
| FLT1fms related receptor tyrosine kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FN1fibronectin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| IFT54intraflagellar transport 54 | Svært ofte (80–99 %) | I 1 tilstand |
| INVSinversin | Svært ofte (80–99 %) | I 2 tilstander |
| IQCB1IQ motif containing B1 | Svært ofte (80–99 %) | I 1 tilstand |
| JAK2Janus kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 5 tilstander |
| LMX1BLIM homeobox transcription factor 1 beta | Svært ofte (80–99 %) | I 1 tilstand |
| NEK8NIMA related kinase 8 | Svært ofte (80–99 %) | I 2 tilstander |
| NPHP1nephrocystin 1 | Svært ofte (80–99 %) | I 3 tilstander |
| NPHP3nephrocystin 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Svært ofte (80–99 %) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Svært ofte (80–99 %) | I 2 tilstander |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Svært ofte (80–99 %) | I 2 tilstander |
| STOX1storkhead box 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Svært 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 tilstander |
| 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 tilstander |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 3 tilstander |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 3 tilstander |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ARMC5armadillo repeat containing 5 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| CD46CD46 molecule | Ofte (30–79 %) | I 1 tilstand |
| CDH23cadherin related 23 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| COL4A5collagen type IV alpha 5 chain | Ofte (30–79 %) | I 2 tilstander |
| CR2complement C3d receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| ELP1elongator acetyltransferase complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| ENGendoglin | Ofte (30–79 %) | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Ofte (30–79 %) | I 3 tilstander |
| EPAS1endothelial PAS domain protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| PKD2polycystin 2, transient receptor potential cation channel | Ofte (30–79 %) | I 2 tilstander |
| PLAAT3phospholipase A and acyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PXKPX domain containing serine/threonine kinase like | Ofte (30–79 %) | I 1 tilstand |
| RETret proto-oncogene | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 3 tilstander |
| SDHCsuccinate dehydrogenase complex subunit C | Ofte (30–79 %) | I 2 tilstander |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 2 tilstander |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A11solute carrier family 25 member 11 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TNIP1TNFAIP3 interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TP53tumor protein p53 | Ofte (30–79 %) | I 2 tilstander |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| VHLvon Hippel-Lindau tumor suppressor | Ofte (30–79 %) | I 4 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ACAT1acetyl-CoA acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTSL4ADAMTS like 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| ALX4ALX homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Noen ganger (5–29 %) | I 1 tilstand |
| BNC2basonuclin zinc finger protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Noen ganger (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Noen ganger (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EDAectodysplasin A | Noen ganger (5–29 %) | I 1 tilstand |
| EDA2Rectodysplasin A2 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Noen ganger (5–29 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLAgalactosidase alpha | Noen ganger (5–29 %) | I 2 tilstander |
| GPC3glypican 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HPSE2heparanase 2 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| HRHR lysine demethylase and nuclear receptor corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGinterferon gamma | Noen ganger (5–29 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB1laminin subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MC4Rmelanocortin 4 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP14matrix metallopeptidase 14 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Noen ganger (5–29 %) | I 2 tilstander |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Noen ganger (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Noen ganger (5–29 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Noen ganger (5–29 %) | I 2 tilstander |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 2 tilstander |
| PDE11Aphosphodiesterase 11A | Noen ganger (5–29 %) | I 2 tilstander |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Noen ganger (5–29 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Noen ganger (5–29 %) | I 1 tilstand |
| POU3F4POU class 3 homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Noen ganger (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RESTRE1 silencing transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Noen ganger (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC37A4solute carrier family 37 member 4 | Noen ganger (5–29 %) | I 3 tilstander |
| SLC7A7solute carrier family 7 member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM28tripartite motif containing 28 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Noen ganger (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WRNWRN RecQ like helicase | Noen ganger (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sjelden (1–4%) | I 1 tilstand |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sjelden (1–4%) | I 1 tilstand |
| LMO1LIM domain only 1 | Sjelden (1–4%) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sjelden (1–4%) | I 1 tilstand |
| PHOX2Bpaired like homeobox 2B | Sjelden (1–4%) | I 1 tilstand |
| ACVRL1activin A receptor like type 1 | Ikke registrert | I 1 tilstand |
| ARHGAP31Rho GTPase activating protein 31 | Ikke registrert | I 1 tilstand |
| BMPR2bone morphogenetic protein receptor type 2 | Ikke registrert | I 1 tilstand |
| BSNDbarttin CLCNK type accessory subunit beta | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| CD2APCD2 associated protein | Ikke registrert | I 1 tilstand |
| CFHcomplement factor H | Ikke registrert | I 1 tilstand |
| CFHR1complement factor H related 1 | Ikke registrert | I 1 tilstand |
| CFHR3complement factor H related 3 | Ikke registrert | I 1 tilstand |
| CLCNKAchloride voltage-gated channel Ka | Ikke registrert | I 1 tilstand |
| CLCNKBchloride voltage-gated channel Kb | Ikke registrert | I 1 tilstand |
| COL4A3collagen type IV alpha 3 chain | Ikke registrert | I 2 tilstander |
| COL4A4collagen type IV alpha 4 chain | Ikke registrert | I 2 tilstander |
| COQ7coenzyme Q7, hydroxylase | Ikke registrert | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registrert | I 1 tilstand |
| CUL3cullin 3 | Ikke registrert | I 1 tilstand |
| CYP21A2cytochrome P450 family 21 subfamily A member 2 | Ikke registrert | I 1 tilstand |
| EPORerythropoietin receptor | Ikke registrert | I 1 tilstand |
| FGAfibrinogen alpha chain | Ikke registrert | I 1 tilstand |
| FMO3flavin containing dimethylaniline monoxygenase 3 | Ikke registrert | I 1 tilstand |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| HBBhemoglobin subunit beta | Ikke registrert | I 1 tilstand |
| INF2inverted formin 2 | Ikke registrert | I 1 tilstand |
| ITGA8integrin subunit alpha 8 | Ikke registrert | I 1 tilstand |
| KLHL3kelch like family member 3 | Ikke registrert | I 1 tilstand |
| KRT18keratin 18 | Ikke registrert | I 1 tilstand |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| LRP6LDL receptor related protein 6 | Ikke registrert | I 1 tilstand |
| MGPmatrix Gla protein | Ikke registrert | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ikke registrert | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ikke registrert | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registrert | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registrert | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ikke registrert | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ikke registrert | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ikke registrert | I 1 tilstand |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Ikke registrert | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ikke registrert | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ikke registrert | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ikke registrert | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ikke registrert | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ikke registrert | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ikke registrert | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ikke registrert | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ikke registrert | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ikke registrert | I 1 tilstand |
| MUC1mucin 1, cell surface associated | Ikke registrert | I 1 tilstand |
| NFIXnuclear factor I X | Ikke registrert | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registrert | I 1 tilstand |
| NR3C2nuclear receptor subfamily 3 group C member 2 | Ikke registrert | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| SERPINA6serpin family A member 6 | Ikke registrert | I 1 tilstand |
| SH2B3SH2B adaptor protein 3 | Ikke registrert | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Ikke registrert | I 1 tilstand |
| SUGCTsuccinyl-CoA:glutarate-CoA transferase | Ikke registrert | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registrert | I 1 tilstand |
| TRPC6transient receptor potential cation channel subfamily C member 6 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| WNK4WNK lysine deficient protein kinase 4 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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