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Egenskap
Underactive thyroid
Klinisk navn: Hypothyroidism
Deficiency of thyroid hormone.
Sammendrag
- Også kalt
- Low T4
- Kroppssystem
- Abnormality of the endocrine system
Underactive thyroidHP:0000821
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Read the genes linked to Underactive thyroid, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test359 gener knyttet til Underactive thyroid
Endringer i disse genene forårsaker sjeldne tilstander der Underactive thyroid 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 |
|---|---|---|
| ATP11AATPase phospholipid transporting 11A | Alltid | I 1 tilstand |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Alltid | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Alltid | I 1 tilstand |
| FANCIFA complementation group I | Alltid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| FOXE1forkhead box E1 | Alltid | I 2 tilstander |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| IGSF1immunoglobulin superfamily member 1 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Alltid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Alltid | I 2 tilstander |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Alltid | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Alltid | I 3 tilstander |
| NOTCH3notch receptor 3 | Alltid | I 1 tilstand |
| PAX8paired box 8 | Alltid | I 4 tilstander |
| PDCD1programmed cell death 1 | Alltid | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Alltid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Alltid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Alltid | I 1 tilstand |
| PTRH2peptidyl-tRNA hydrolase 2 | Alltid | I 2 tilstander |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Alltid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| SLC25A36solute carrier family 25 member 36 | Alltid | I 1 tilstand |
| SOX17SRY-box transcription factor 17 | Alltid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Alltid | I 1 tilstand |
| TGthyroglobulin | Alltid | I 1 tilstand |
| TPOthyroid peroxidase | Alltid | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 2 tilstander |
Vis 319 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DNA2DNA replication helicase/nuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Svært ofte (80–99 %) | I 3 tilstander |
| NKX2-1NK2 homeobox 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Svært ofte (80–99 %) | I 2 tilstander |
| SLC26A4solute carrier family 26 member 4 | Svært ofte (80–99 %) | I 3 tilstander |
| TSHRthyroid stimulating hormone receptor | Svært ofte (80–99 %) | I 2 tilstander |
| ADCY5adenylate cyclase 5 | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CBLBCbl proto-oncogene B | Ofte (30–79 %) | I 1 tilstand |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CD274CD274 molecule | Ofte (30–79 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Ofte (30–79 %) | I 2 tilstander |
| CEP57centrosomal protein 57 | Ofte (30–79 %) | I 2 tilstander |
| EXOSC2exosome component 2 | Ofte (30–79 %) | I 1 tilstand |
| FOXI1forkhead box I1 | Ofte (30–79 %) | I 1 tilstand |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GNASGNAS complex locus | Ofte (30–79 %) | I 2 tilstander |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GPR161G protein-coupled receptor 161 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Ofte (30–79 %) | I 2 tilstander |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Ofte (30–79 %) | I 1 tilstand |
| KLF1KLF transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 2 tilstander |
| LIG4DNA ligase 4 | Ofte (30–79 %) | I 2 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 2 tilstander |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Ofte (30–79 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU6ATACRNA, U6atac small nuclear | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 2 tilstander |
| ROBO1roundabout guidance receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SASH3SAM and SH3 domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstander |
| TIAM1TIAM Rac1 associated GEF 1 | Ofte (30–79 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Ofte (30–79 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAadenosine deaminase | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| AIREautoimmune regulator | Noen ganger (5–29 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 2 tilstander |
| APOEapolipoprotein E | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Noen ganger (5–29 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| C1QBPcomplement C1q binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Noen ganger (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 2 tilstander |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 2 tilstander |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Noen ganger (5–29 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCLRE1CDNA cross-link repair 1C | Noen ganger (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 2 tilstander |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FLCNfolliculin | Noen ganger (5–29 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXN1forkhead box N1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP3forkhead box P3 | Noen ganger (5–29 %) | I 2 tilstander |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Noen ganger (5–29 %) | I 3 tilstander |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 2 tilstander |
| HPD4-hydroxyphenylpyruvate dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 2 tilstander |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RGinterleukin 2 receptor subunit gamma | Noen ganger (5–29 %) | I 1 tilstand |
| IL7Rinterleukin 7 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KISS1RKISS1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRBALPS responsive beige-like anchor protein | Noen ganger (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MDM4MDM4 regulator of p53 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Noen ganger (5–29 %) | I 1 tilstand |
| MPImannose phosphate isomerase | Noen ganger (5–29 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUDCD3NudC domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Noen ganger (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Noen ganger (5–29 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PSMB10proteasome 20S subunit beta 10 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAG1recombination activating 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAG2recombination activating 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Noen ganger (5–29 %) | I 2 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A17solute carrier family 6 member 17 | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 1 tilstand |
| STAT1signal transducer and activator of transcription 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TFtransferrin | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Noen ganger (5–29 %) | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Noen ganger (5–29 %) | I 2 tilstander |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| ZFP57ZFP57 zinc finger protein | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCB11ATP binding cassette subfamily B member 11 | Sjelden (1–4%) | I 1 tilstand |
| ABCB4ATP binding cassette subfamily B member 4 | Sjelden (1–4%) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Sjelden (1–4%) | I 2 tilstander |
| ADAMTSL2ADAMTS like 2 | Sjelden (1–4%) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Sjelden (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| ATP8B1ATPase phospholipid transporting 8B1 | Sjelden (1–4%) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Sjelden (1–4%) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjelden (1–4%) | I 1 tilstand |
| DNM1Ldynamin 1L | Sjelden (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjelden (1–4%) | I 1 tilstand |
| FBN1fibrillin 1 | Sjelden (1–4%) | I 1 tilstand |
| FDX2ferredoxin 2 | Sjelden (1–4%) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sjelden (1–4%) | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Sjelden (1–4%) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sjelden (1–4%) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sjelden (1–4%) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sjelden (1–4%) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sjelden (1–4%) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sjelden (1–4%) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sjelden (1–4%) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sjelden (1–4%) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sjelden (1–4%) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sjelden (1–4%) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sjelden (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjelden (1–4%) | I 1 tilstand |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Sjelden (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjelden (1–4%) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sjelden (1–4%) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Sjelden (1–4%) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Sjelden (1–4%) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Sjelden (1–4%) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sjelden (1–4%) | I 1 tilstand |
| SAA1serum amyloid A1 | Sjelden (1–4%) | I 1 tilstand |
| SKIC2SKI2 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Sjelden (1–4%) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Sjelden (1–4%) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Sjelden (1–4%) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Sjelden (1–4%) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| DUOX2dual oxidase 2 | Ikke registrert | I 1 tilstand |
| DUOXA2dual oxidase maturation factor 2 | Ikke registrert | I 1 tilstand |
| GYG1glycogenin 1 | Ikke registrert | I 1 tilstand |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Ikke registrert | I 1 tilstand |
| IFNGinterferon gamma | Ikke registrert | I 1 tilstand |
| IYDiodotyrosine deiodinase | Ikke registrert | I 1 tilstand |
| JAK1Janus kinase 1 | Ikke registrert | I 1 tilstand |
| MCM8minichromosome maintenance 8 homologous recombination repair factor | Ikke registrert | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Ikke registrert | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PLVAPplasmalemma vesicle associated protein | Ikke registrert | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ikke registrert | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Ikke registrert | I 1 tilstand |
| PTENphosphatase and tensin homolog | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Ikke registrert | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Ikke registrert | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Ikke registrert | I 1 tilstand |
| TSC1TSC complex subunit 1 | Ikke registrert | I 1 tilstand |
| TSC2TSC complex subunit 2 | Ikke registrert | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 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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