Cecha
Underactive thyroid
Nazwa kliniczna: Hypothyroidism
Deficiency of thyroid hormone.
Podsumowanie
- Znana także jako
- Low T4
- Układ organizmu
- Abnormality of the endocrine system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Underactive thyroid, and the rest of your genome, with one test.
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Zamawiam Genome Test359 genów powiązanych z Underactive thyroid
Zmiany w tych genach powodują rzadkie choroby, w których występuje Underactive thyroid. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ATP11AATPase phospholipid transporting 11A | Zawsze | W 1 chorobie |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Zawsze | W 1 chorobie |
| DNAH1dynein axonemal heavy chain 1 | Zawsze | W 1 chorobie |
| FANCIFA complementation group I | Zawsze | W 1 chorobie |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Zawsze | W 1 chorobie |
| FLVCR1FLVCR choline and heme transporter 1 | Zawsze | W 1 chorobie |
| FOXE1forkhead box E1 | Zawsze | W 2 chorobach |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| IGSF1immunoglobulin superfamily member 1 | Zawsze | W 1 chorobie |
| IKZF2IKAROS family zinc finger 2 | Zawsze | W 1 chorobie |
| IL2RAinterleukin 2 receptor subunit alpha | Zawsze | W 1 chorobie |
| IL6STinterleukin 6 cytokine family signal transducer | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| KDM6Alysine demethylase 6A | Zawsze | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Zawsze | W 2 chorobach |
| LRRC7leucine rich repeat containing 7 | Zawsze | W 1 chorobie |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Zawsze | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Zawsze | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| MSL2MSL complex subunit 2 | Zawsze | W 1 chorobie |
| NKX2-5NK2 homeobox 5 | Zawsze | W 3 chorobach |
| NOTCH3notch receptor 3 | Zawsze | W 1 chorobie |
| PAX8paired box 8 | Zawsze | W 4 chorobach |
| PDCD1programmed cell death 1 | Zawsze | W 1 chorobie |
| POU1F1POU class 1 homeobox 1 | Zawsze | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Zawsze | W 1 chorobie |
| PTCRApre T cell antigen receptor alpha | Zawsze | W 1 chorobie |
| PTRH2peptidyl-tRNA hydrolase 2 | Zawsze | W 2 chorobach |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| SGPL1sphingosine-1-phosphate lyase 1 | Zawsze | W 1 chorobie |
| SGSM3small G protein signaling modulator 3 | Zawsze | W 1 chorobie |
| SLC25A36solute carrier family 25 member 36 | Zawsze | W 1 chorobie |
| SOX17SRY-box transcription factor 17 | Zawsze | W 1 chorobie |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Zawsze | W 1 chorobie |
| TGthyroglobulin | Zawsze | W 1 chorobie |
| TPOthyroid peroxidase | Zawsze | W 1 chorobie |
| TSHBthyroid stimulating hormone subunit beta | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| DCAF17DDB1 and CUL4 associated factor 17 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 319 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| DNA2DNA replication helicase/nuclease 2 | Bardzo często (80–99%) | W 1 chorobie |
| FUCA1alpha-L-fucosidase 1 | Bardzo często (80–99%) | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Bardzo często (80–99%) | W 3 chorobach |
| NKX2-1NK2 homeobox 1 | Bardzo często (80–99%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Bardzo często (80–99%) | W 2 chorobach |
| SLC26A4solute carrier family 26 member 4 | Bardzo często (80–99%) | W 3 chorobach |
| TSHRthyroid stimulating hormone receptor | Bardzo często (80–99%) | W 2 chorobach |
| ADCY5adenylate cyclase 5 | Często (30–79%) | W 1 chorobie |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Często (30–79%) | W 1 chorobie |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Często (30–79%) | W 1 chorobie |
| CBLBCbl proto-oncogene B | Często (30–79%) | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Często (30–79%) | W 1 chorobie |
| CD274CD274 molecule | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 2 chorobach |
| CEP57centrosomal protein 57 | Często (30–79%) | W 2 chorobach |
| EXOSC2exosome component 2 | Często (30–79%) | W 1 chorobie |
| FOXI1forkhead box I1 | Często (30–79%) | W 1 chorobie |
| FUT8fucosyltransferase 8 | Często (30–79%) | W 1 chorobie |
| GNASGNAS complex locus | Często (30–79%) | W 2 chorobach |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Często (30–79%) | W 1 chorobie |
| GPR161G protein-coupled receptor 161 | Często (30–79%) | W 1 chorobie |
| HESX1HESX homeobox 1 | Często (30–79%) | W 1 chorobie |
| ITCHitchy E3 ubiquitin protein ligase | Często (30–79%) | W 2 chorobach |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Często (30–79%) | W 1 chorobie |
| KLF1KLF transcription factor 1 | Często (30–79%) | W 1 chorobie |
| LHX4LIM homeobox 4 | Często (30–79%) | W 2 chorobach |
| LIG4DNA ligase 4 | Często (30–79%) | W 2 chorobach |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 2 chorobach |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Często (30–79%) | W 1 chorobie |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Często (30–79%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Często (30–79%) | W 2 chorobach |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Często (30–79%) | W 1 chorobie |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Często (30–79%) | W 1 chorobie |
| POLR3GLRNA polymerase III subunit GL | Często (30–79%) | W 1 chorobie |
| PRIM1DNA primase subunit 1 | Często (30–79%) | W 1 chorobie |
| PROKR2prokineticin receptor 2 | Często (30–79%) | W 1 chorobie |
| RNU6ATACRNA, U6atac small nuclear | Często (30–79%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Często (30–79%) | W 2 chorobach |
| ROBO1roundabout guidance receptor 1 | Często (30–79%) | W 1 chorobie |
| SASH3SAM and SH3 domain containing 3 | Często (30–79%) | W 1 chorobie |
| SPOPspeckle type BTB/POZ protein | Często (30–79%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Często (30–79%) | W 2 chorobach |
| TIAM1TIAM Rac1 associated GEF 1 | Często (30–79%) | W 1 chorobie |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Często (30–79%) | W 1 chorobie |
| WDR11WD repeat domain 11 | Często (30–79%) | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| ZBTB20zinc finger and BTB domain containing 20 | Często (30–79%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| ADAadenosine deaminase | Czasami (5–29%) | W 1 chorobie |
| ADARadenosine deaminase RNA specific | Czasami (5–29%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Czasami (5–29%) | W 1 chorobie |
| AIREautoimmune regulator | Czasami (5–29%) | W 1 chorobie |
| ALX4ALX homeobox 4 | Czasami (5–29%) | W 1 chorobie |
| ANAPC1anaphase promoting complex subunit 1 | Czasami (5–29%) | W 2 chorobach |
| APCAPC regulator of Wnt signaling pathway | Czasami (5–29%) | W 2 chorobach |
| APOEapolipoprotein E | Czasami (5–29%) | W 1 chorobie |
| ARL6ARF like GTPase 6 | Czasami (5–29%) | W 1 chorobie |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ASH1LASH1 like histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Czasami (5–29%) | W 1 chorobie |
| ATP5F1DATP synthase F1 subunit delta | Czasami (5–29%) | W 1 chorobie |
| ATP5F1EATP synthase F1 subunit epsilon | Czasami (5–29%) | W 1 chorobie |
| ATP5MKATP synthase membrane subunit k | Czasami (5–29%) | W 1 chorobie |
| ATP5POATP synthase peripheral stalk subunit OSCP | Czasami (5–29%) | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Czasami (5–29%) | W 1 chorobie |
| B4GALT1beta-1,4-galactosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Czasami (5–29%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Czasami (5–29%) | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Czasami (5–29%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Czasami (5–29%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Czasami (5–29%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Czasami (5–29%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Czasami (5–29%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Czasami (5–29%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Czasami (5–29%) | W 1 chorobie |
| BCORBCL6 corepressor | Czasami (5–29%) | W 1 chorobie |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Czasami (5–29%) | W 1 chorobie |
| BMP6bone morphogenetic protein 6 | Czasami (5–29%) | W 1 chorobie |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Czasami (5–29%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Czasami (5–29%) | W 1 chorobie |
| BUB3BUB3 mitotic checkpoint protein | Czasami (5–29%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Czasami (5–29%) | W 1 chorobie |
| C1QBPcomplement C1q binding protein | Czasami (5–29%) | W 1 chorobie |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Czasami (5–29%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| CD4CD4 molecule | Czasami (5–29%) | W 1 chorobie |
| CD55CD55 molecule (Cromer blood group) | Czasami (5–29%) | W 1 chorobie |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Czasami (5–29%) | W 1 chorobie |
| CEP19centrosomal protein 19 | Czasami (5–29%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Czasami (5–29%) | W 1 chorobie |
| CHD6chromodomain helicase DNA binding protein 6 | Czasami (5–29%) | W 1 chorobie |
| CHD7chromodomain helicase DNA binding protein 7 | Czasami (5–29%) | W 2 chorobach |
| CHD8chromodomain helicase DNA binding protein 8 | Czasami (5–29%) | W 2 chorobach |
| CLIP2CAP-Gly domain containing linker protein 2 | Czasami (5–29%) | W 1 chorobie |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| CRELD1CRELD disulfide isomerase 1 | Czasami (5–29%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Czasami (5–29%) | W 1 chorobie |
| CTNScystinosin, lysosomal cystine transporter | Czasami (5–29%) | W 1 chorobie |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Czasami (5–29%) | W 1 chorobie |
| DACT1dishevelled binding antagonist of beta catenin 1 | Czasami (5–29%) | W 1 chorobie |
| DCLRE1CDNA cross-link repair 1C | Czasami (5–29%) | W 1 chorobie |
| DDB1damage specific DNA binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Czasami (5–29%) | W 1 chorobie |
| DLL1delta like canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DOT1LDOT1 like histone lysine methyltransferase | Czasami (5–29%) | W 1 chorobie |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Czasami (5–29%) | W 1 chorobie |
| EIF4Heukaryotic translation initiation factor 4H | Czasami (5–29%) | W 1 chorobie |
| ELNelastin | Czasami (5–29%) | W 2 chorobach |
| EXT2exostosin glycosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| FBXO22F-box protein 22 | Czasami (5–29%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Czasami (5–29%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Czasami (5–29%) | W 1 chorobie |
| FGFR1fibroblast growth factor receptor 1 | Czasami (5–29%) | W 1 chorobie |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Czasami (5–29%) | W 1 chorobie |
| FLCNfolliculin | Czasami (5–29%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Czasami (5–29%) | W 2 chorobach |
| FOXH1forkhead box H1 | Czasami (5–29%) | W 1 chorobie |
| FOXN1forkhead box N1 | Czasami (5–29%) | W 1 chorobie |
| FOXP1forkhead box P1 | Czasami (5–29%) | W 1 chorobie |
| FOXP3forkhead box P3 | Czasami (5–29%) | W 2 chorobach |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Czasami (5–29%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Czasami (5–29%) | W 1 chorobie |
| GCH1GTP cyclohydrolase 1 | Czasami (5–29%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| GNA11G protein subunit alpha 11 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Czasami (5–29%) | W 1 chorobie |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Czasami (5–29%) | W 1 chorobie |
| GRM7glutamate metabotropic receptor 7 | Czasami (5–29%) | W 1 chorobie |
| GTF2Igeneral transcription factor IIi | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Czasami (5–29%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| HBBhemoglobin subunit beta | Czasami (5–29%) | W 3 chorobach |
| HDAC4histone deacetylase 4 | Czasami (5–29%) | W 1 chorobie |
| HFEhomeostatic iron regulator | Czasami (5–29%) | W 1 chorobie |
| HGDhomogentisate 1,2-dioxygenase | Czasami (5–29%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| HMGA2high mobility group AT-hook 2 | Czasami (5–29%) | W 1 chorobie |
| HNF1BHNF1 homeobox B | Czasami (5–29%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Czasami (5–29%) | W 2 chorobach |
| HPD4-hydroxyphenylpyruvate dioxygenase | Czasami (5–29%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Czasami (5–29%) | W 1 chorobie |
| HYMAIhydatidiform mole associated and imprinted | Czasami (5–29%) | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Czasami (5–29%) | W 2 chorobach |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| IGF2insulin like growth factor 2 | Czasami (5–29%) | W 1 chorobie |
| IL2RGinterleukin 2 receptor subunit gamma | Czasami (5–29%) | W 1 chorobie |
| IL7Rinterleukin 7 receptor | Czasami (5–29%) | W 1 chorobie |
| IMPDH2inosine monophosphate dehydrogenase 2 | Czasami (5–29%) | W 1 chorobie |
| INSRinsulin receptor | Czasami (5–29%) | W 1 chorobie |
| IPO8importin 8 | Czasami (5–29%) | W 1 chorobie |
| IRF4interferon regulatory factor 4 | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KISS1RKISS1 receptor | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| LIFRLIF receptor subunit alpha | Czasami (5–29%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Czasami (5–29%) | W 1 chorobie |
| LRBALPS responsive beige-like anchor protein | Czasami (5–29%) | W 1 chorobie |
| LRP4LDL receptor related protein 4 | Czasami (5–29%) | W 1 chorobie |
| LSM11LSM11, U7 small nuclear RNA associated | Czasami (5–29%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Czasami (5–29%) | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Czasami (5–29%) | W 1 chorobie |
| MDM4MDM4 regulator of p53 | Czasami (5–29%) | W 1 chorobie |
| METTL27methyltransferase like 27 | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Czasami (5–29%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Czasami (5–29%) | W 1 chorobie |
| MOGSmannosyl-oligosaccharide glucosidase | Czasami (5–29%) | W 1 chorobie |
| MPImannose phosphate isomerase | Czasami (5–29%) | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Czasami (5–29%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Czasami (5–29%) | W 1 chorobie |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Czasami (5–29%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Czasami (5–29%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Czasami (5–29%) | W 1 chorobie |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Czasami (5–29%) | W 1 chorobie |
| NUDCD3NudC domain containing 3 | Czasami (5–29%) | W 1 chorobie |
| PDPNpodoplanin | Czasami (5–29%) | W 1 chorobie |
| PHF21APHD finger protein 21A | Czasami (5–29%) | W 1 chorobie |
| PLAAT3phospholipase A and acyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| PLAG1PLAG1 zinc finger | Czasami (5–29%) | W 1 chorobie |
| PLAGL1PLAG1 like zinc finger 1 | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 2 chorobach |
| PRDM16PR/SET domain 16 | Czasami (5–29%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Czasami (5–29%) | W 1 chorobie |
| PSMB10proteasome 20S subunit beta 10 | Czasami (5–29%) | W 1 chorobie |
| PTCH1patched 1 | Czasami (5–29%) | W 1 chorobie |
| RAG1recombination activating 1 | Czasami (5–29%) | W 1 chorobie |
| RAG2recombination activating 2 | Czasami (5–29%) | W 1 chorobie |
| RAI1retinoic acid induced 1 | Czasami (5–29%) | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Czasami (5–29%) | W 1 chorobie |
| RNASEH2Aribonuclease H2 subunit A | Czasami (5–29%) | W 1 chorobie |
| RNASEH2Bribonuclease H2 subunit B | Czasami (5–29%) | W 1 chorobie |
| RNASEH2Cribonuclease H2 subunit C | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SALL1spalt like transcription factor 1 | Czasami (5–29%) | W 2 chorobach |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Czasami (5–29%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Czasami (5–29%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Czasami (5–29%) | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Czasami (5–29%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Czasami (5–29%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| SKISKI proto-oncogene | Czasami (5–29%) | W 1 chorobie |
| SLC37A4solute carrier family 37 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC6A17solute carrier family 6 member 17 | Czasami (5–29%) | W 1 chorobie |
| SLF2SMC5/6 complex localization factor 2 | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Czasami (5–29%) | W 1 chorobie |
| SRYsex determining region Y | Czasami (5–29%) | W 1 chorobie |
| STAT1signal transducer and activator of transcription 1 | Czasami (5–29%) | W 1 chorobie |
| STAT3signal transducer and activator of transcription 3 | Czasami (5–29%) | W 1 chorobie |
| STEAP3STEAP3 metalloreductase | Czasami (5–29%) | W 1 chorobie |
| STX1Asyntaxin 1A | Czasami (5–29%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Czasami (5–29%) | W 1 chorobie |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Czasami (5–29%) | W 1 chorobie |
| SVBPsmall vasohibin binding protein | Czasami (5–29%) | W 1 chorobie |
| TBL2transducin beta like 2 | Czasami (5–29%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 2 chorobach |
| TFtransferrin | Czasami (5–29%) | W 1 chorobie |
| TGIF1TGFB induced factor homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Czasami (5–29%) | W 1 chorobie |
| TONSLtonsoku like, DNA repair protein | Czasami (5–29%) | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Czasami (5–29%) | W 2 chorobach |
| TRIM32tripartite motif containing 32 | Czasami (5–29%) | W 1 chorobie |
| TRIP13thyroid hormone receptor interactor 13 | Czasami (5–29%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Czasami (5–29%) | W 1 chorobie |
| UBE4Bubiquitination factor E4B | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Czasami (5–29%) | W 1 chorobie |
| VPS33BVPS33B late endosome and lysosome associated | Czasami (5–29%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Czasami (5–29%) | W 1 chorobie |
| WDPCPWD repeat containing planar cell polarity effector | Czasami (5–29%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Czasami (5–29%) | W 2 chorobach |
| YY1YY1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| ZFP57ZFP57 zinc finger protein | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| ABCB11ATP binding cassette subfamily B member 11 | Rzadko (1–4%) | W 1 chorobie |
| ABCB4ATP binding cassette subfamily B member 4 | Rzadko (1–4%) | W 1 chorobie |
| ACP5acid phosphatase 5, tartrate resistant | Rzadko (1–4%) | W 2 chorobach |
| ADAMTSL2ADAMTS like 2 | Rzadko (1–4%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Rzadko (1–4%) | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Rzadko (1–4%) | W 1 chorobie |
| ATP8B1ATPase phospholipid transporting 8B1 | Rzadko (1–4%) | W 1 chorobie |
| BTNL2butyrophilin like 2 | Rzadko (1–4%) | W 1 chorobie |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Rzadko (1–4%) | W 1 chorobie |
| DNM1Ldynamin 1L | Rzadko (1–4%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Rzadko (1–4%) | W 1 chorobie |
| FBN1fibrillin 1 | Rzadko (1–4%) | W 1 chorobie |
| FDX2ferredoxin 2 | Rzadko (1–4%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Rzadko (1–4%) | W 1 chorobie |
| LTBP3latent transforming growth factor beta binding protein 3 | Rzadko (1–4%) | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Rzadko (1–4%) | W 1 chorobie |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Rzadko (1–4%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Rzadko (1–4%) | W 1 chorobie |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Rzadko (1–4%) | W 1 chorobie |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Rzadko (1–4%) | W 1 chorobie |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Rzadko (1–4%) | W 1 chorobie |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Rzadko (1–4%) | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Rzadko (1–4%) | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Rzadko (1–4%) | W 1 chorobie |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Rzadko (1–4%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Rzadko (1–4%) | W 1 chorobie |
| MTTPmicrosomal triglyceride transfer protein | Rzadko (1–4%) | W 1 chorobie |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Rzadko (1–4%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Rzadko (1–4%) | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Rzadko (1–4%) | W 1 chorobie |
| POLGDNA polymerase gamma, catalytic subunit | Rzadko (1–4%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Rzadko (1–4%) | W 1 chorobie |
| PPIBpeptidylprolyl isomerase B | Rzadko (1–4%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Rzadko (1–4%) | W 1 chorobie |
| SAA1serum amyloid A1 | Rzadko (1–4%) | W 1 chorobie |
| SKIC2SKI2 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Rzadko (1–4%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Rzadko (1–4%) | W 1 chorobie |
| STUB1STIP1 homology and U-box containing protein 1 | Rzadko (1–4%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Rzadko (1–4%) | W 1 chorobie |
| ALMS1ALMS1 centrosome and basal body associated protein | Nie odnotowano | W 1 chorobie |
| BMP4bone morphogenetic protein 4 | Nie odnotowano | W 1 chorobie |
| DUOX2dual oxidase 2 | Nie odnotowano | W 1 chorobie |
| DUOXA2dual oxidase maturation factor 2 | Nie odnotowano | W 1 chorobie |
| GYG1glycogenin 1 | Nie odnotowano | W 1 chorobie |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Nie odnotowano | W 1 chorobie |
| IFNGinterferon gamma | Nie odnotowano | W 1 chorobie |
| IYDiodotyrosine deiodinase | Nie odnotowano | W 1 chorobie |
| JAK1Janus kinase 1 | Nie odnotowano | W 1 chorobie |
| MCM8minichromosome maintenance 8 homologous recombination repair factor | Nie odnotowano | W 1 chorobie |
| NPHS1NPHS1 adhesion molecule, nephrin | Nie odnotowano | W 1 chorobie |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nie odnotowano | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PLVAPplasmalemma vesicle associated protein | Nie odnotowano | W 1 chorobie |
| PMM2phosphomannomutase 2 | Nie odnotowano | W 1 chorobie |
| PROP1PROP paired-like homeobox 1 | Nie odnotowano | W 1 chorobie |
| PTENphosphatase and tensin homolog | Nie odnotowano | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Nie odnotowano | W 1 chorobie |
| SLC5A5solute carrier family 5 member 5 | Nie odnotowano | W 1 chorobie |
| SOX3SRY-box transcription factor 3 | Nie odnotowano | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Nie odnotowano | W 1 chorobie |
| TSC1TSC complex subunit 1 | Nie odnotowano | W 1 chorobie |
| TSC2TSC complex subunit 2 | Nie odnotowano | W 1 chorobie |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Nie odnotowano | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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