Merkmal
Underactive thyroid
Klinische Bezeichnung: Hypothyroidism
Deficiency of thyroid hormone.
Zusammenfassung
- Auch genannt
- Low T4
- Körpersystem
- Abnormality of the endocrine system
ReferenzgenomGRCh38hg38
Die Positionen auf den Gen- und Variantenseiten richten sich nach dieser Auswahl, in diesem Browser.
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Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Underactive thyroid auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ATP11AATPase phospholipid transporting 11A | Immer | In 1 Erkrankung |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Immer | In 1 Erkrankung |
| DNAH1dynein axonemal heavy chain 1 | Immer | In 1 Erkrankung |
| FANCIFA complementation group I | Immer | In 1 Erkrankung |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Immer | In 1 Erkrankung |
| FLVCR1FLVCR choline and heme transporter 1 | Immer | In 1 Erkrankung |
| FOXE1forkhead box E1 | Immer | In 2 Erkrankungen |
| GTPBP2GTP binding protein 2 | Immer | In 1 Erkrankung |
| IGSF1immunoglobulin superfamily member 1 | Immer | In 1 Erkrankung |
| IKZF2IKAROS family zinc finger 2 | Immer | In 1 Erkrankung |
| IL2RAinterleukin 2 receptor subunit alpha | Immer | In 1 Erkrankung |
| IL6STinterleukin 6 cytokine family signal transducer | Immer | In 1 Erkrankung |
| JKAMPJNK1/MAPK8 associated membrane protein | Immer | In 1 Erkrankung |
| KARS1lysyl-tRNA synthetase 1 | Immer | In 1 Erkrankung |
| KDM6Alysine demethylase 6A | Immer | In 1 Erkrankung |
| KMT2Dlysine methyltransferase 2D | Immer | In 2 Erkrankungen |
| LRRC7leucine rich repeat containing 7 | Immer | In 1 Erkrankung |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Immer | In 1 Erkrankung |
| MARK2microtubule affinity regulating kinase 2 | Immer | In 1 Erkrankung |
| MARS1methionyl-tRNA synthetase 1 | Immer | In 1 Erkrankung |
| MSL2MSL complex subunit 2 | Immer | In 1 Erkrankung |
| NKX2-5NK2 homeobox 5 | Immer | In 3 Erkrankungen |
| NOTCH3notch receptor 3 | Immer | In 1 Erkrankung |
| PAX8paired box 8 | Immer | In 4 Erkrankungen |
| PDCD1programmed cell death 1 | Immer | In 1 Erkrankung |
| POU1F1POU class 1 homeobox 1 | Immer | In 1 Erkrankung |
| PPFIA3PPFI scaffold protein A3 | Immer | In 1 Erkrankung |
| PTCRApre T cell antigen receptor alpha | Immer | In 1 Erkrankung |
| PTRH2peptidyl-tRNA hydrolase 2 | Immer | In 2 Erkrankungen |
| RFC4replication factor C subunit 4 | Immer | In 1 Erkrankung |
| SGPL1sphingosine-1-phosphate lyase 1 | Immer | In 1 Erkrankung |
| SGSM3small G protein signaling modulator 3 | Immer | In 1 Erkrankung |
| SLC25A36solute carrier family 25 member 36 | Immer | In 1 Erkrankung |
| SOX17SRY-box transcription factor 17 | Immer | In 1 Erkrankung |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Immer | In 1 Erkrankung |
| TGthyroglobulin | Immer | In 1 Erkrankung |
| TPOthyroid peroxidase | Immer | In 1 Erkrankung |
| TSHBthyroid stimulating hormone subunit beta | Immer | In 1 Erkrankung |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Immer | In 1 Erkrankung |
| DCAF17DDB1 and CUL4 associated factor 17 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
319 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| DNA2DNA replication helicase/nuclease 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FUCA1alpha-L-fucosidase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| KAT6Blysine acetyltransferase 6B | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| NKX2-1NK2 homeobox 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PNPLA6patatin like domain 6, lysophospholipase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SLC26A4solute carrier family 26 member 4 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| TSHRthyroid stimulating hormone receptor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ADCY5adenylate cyclase 5 | Häufig (30–79 %) | In 1 Erkrankung |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Häufig (30–79 %) | In 1 Erkrankung |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Häufig (30–79 %) | In 1 Erkrankung |
| CBLBCbl proto-oncogene B | Häufig (30–79 %) | In 1 Erkrankung |
| CCDC47coiled-coil domain containing 47 | Häufig (30–79 %) | In 1 Erkrankung |
| CD274CD274 molecule | Häufig (30–79 %) | In 1 Erkrankung |
| CDONcell adhesion associated, oncogene regulated | Häufig (30–79 %) | In 2 Erkrankungen |
| CEP57centrosomal protein 57 | Häufig (30–79 %) | In 2 Erkrankungen |
| EXOSC2exosome component 2 | Häufig (30–79 %) | In 1 Erkrankung |
| FOXI1forkhead box I1 | Häufig (30–79 %) | In 1 Erkrankung |
| FUT8fucosyltransferase 8 | Häufig (30–79 %) | In 1 Erkrankung |
| GNASGNAS complex locus | Häufig (30–79 %) | In 2 Erkrankungen |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Häufig (30–79 %) | In 1 Erkrankung |
| GPR161G protein-coupled receptor 161 | Häufig (30–79 %) | In 1 Erkrankung |
| HESX1HESX homeobox 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ITCHitchy E3 ubiquitin protein ligase | Häufig (30–79 %) | In 2 Erkrankungen |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Häufig (30–79 %) | In 1 Erkrankung |
| KLF1KLF transcription factor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| LHX4LIM homeobox 4 | Häufig (30–79 %) | In 2 Erkrankungen |
| LIG4DNA ligase 4 | Häufig (30–79 %) | In 2 Erkrankungen |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Häufig (30–79 %) | In 1 Erkrankung |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Häufig (30–79 %) | In 1 Erkrankung |
| POLR3GLRNA polymerase III subunit GL | Häufig (30–79 %) | In 1 Erkrankung |
| PRIM1DNA primase subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PROKR2prokineticin receptor 2 | Häufig (30–79 %) | In 1 Erkrankung |
| RNU6ATACRNA, U6atac small nuclear | Häufig (30–79 %) | In 1 Erkrankung |
| RNU7-1RNA, U7 small nuclear 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| ROBO1roundabout guidance receptor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SASH3SAM and SH3 domain containing 3 | Häufig (30–79 %) | In 1 Erkrankung |
| SPOPspeckle type BTB/POZ protein | Häufig (30–79 %) | In 1 Erkrankung |
| TBCKTBC1 domain containing kinase | Häufig (30–79 %) | In 2 Erkrankungen |
| TIAM1TIAM Rac1 associated GEF 1 | Häufig (30–79 %) | In 1 Erkrankung |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Häufig (30–79 %) | In 1 Erkrankung |
| WDR11WD repeat domain 11 | Häufig (30–79 %) | In 1 Erkrankung |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Häufig (30–79 %) | In 1 Erkrankung |
| ZBTB20zinc finger and BTB domain containing 20 | Häufig (30–79 %) | In 1 Erkrankung |
| ABCC8ATP binding cassette subfamily C member 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| ADAadenosine deaminase | Manchmal (5–29 %) | In 1 Erkrankung |
| ADARadenosine deaminase RNA specific | Manchmal (5–29 %) | In 1 Erkrankung |
| AFF4ALF transcription elongation factor 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| AIREautoimmune regulator | Manchmal (5–29 %) | In 1 Erkrankung |
| ALX4ALX homeobox 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| ANAPC1anaphase promoting complex subunit 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| APCAPC regulator of Wnt signaling pathway | Manchmal (5–29 %) | In 2 Erkrankungen |
| APOEapolipoprotein E | Manchmal (5–29 %) | In 1 Erkrankung |
| ARL6ARF like GTPase 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| ARVCFARVCF delta catenin family member | Manchmal (5–29 %) | In 1 Erkrankung |
| ASH1LASH1 like histone lysine methyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP5F1AATP synthase F1 subunit alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP5F1DATP synthase F1 subunit delta | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP5F1EATP synthase F1 subunit epsilon | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP5MKATP synthase membrane subunit k | Manchmal (5–29 %) | In 1 Erkrankung |
| ATP5POATP synthase peripheral stalk subunit OSCP | Manchmal (5–29 %) | In 1 Erkrankung |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| B4GALT1beta-1,4-galactosyltransferase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Manchmal (5–29 %) | In 1 Erkrankung |
| BBIP1BBSome interacting protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS1Bardet-Biedl syndrome 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS10Bardet-Biedl syndrome 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS12Bardet-Biedl syndrome 12 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS2Bardet-Biedl syndrome 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS4Bardet-Biedl syndrome 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS5Bardet-Biedl syndrome 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS7Bardet-Biedl syndrome 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| BBS9Bardet-Biedl syndrome 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| BCORBCL6 corepressor | Manchmal (5–29 %) | In 1 Erkrankung |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Manchmal (5–29 %) | In 1 Erkrankung |
| BMP6bone morphogenetic protein 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Manchmal (5–29 %) | In 1 Erkrankung |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Manchmal (5–29 %) | In 1 Erkrankung |
| BUB3BUB3 mitotic checkpoint protein | Manchmal (5–29 %) | In 1 Erkrankung |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Manchmal (5–29 %) | In 1 Erkrankung |
| C1QBPcomplement C1q binding protein | Manchmal (5–29 %) | In 1 Erkrankung |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Manchmal (5–29 %) | In 1 Erkrankung |
| CASZ1castor zinc finger 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CD4CD4 molecule | Manchmal (5–29 %) | In 1 Erkrankung |
| CD55CD55 molecule (Cromer blood group) | Manchmal (5–29 %) | In 1 Erkrankung |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP19centrosomal protein 19 | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP290centrosomal protein 290 | Manchmal (5–29 %) | In 1 Erkrankung |
| CFAP418cilia and flagella associated protein 418 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHD6chromodomain helicase DNA binding protein 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| CHD7chromodomain helicase DNA binding protein 7 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CHD8chromodomain helicase DNA binding protein 8 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CLIP2CAP-Gly domain containing linker protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| CLPBClpB family mitochondrial disaggregase | Manchmal (5–29 %) | In 1 Erkrankung |
| COMTcatechol-O-methyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| CRELD1CRELD disulfide isomerase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CRIPTOcripto, EGF-CFC family member | Manchmal (5–29 %) | In 1 Erkrankung |
| CTNScystinosin, lysosomal cystine transporter | Manchmal (5–29 %) | In 1 Erkrankung |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DACT1dishevelled binding antagonist of beta catenin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DCLRE1CDNA cross-link repair 1C | Manchmal (5–29 %) | In 1 Erkrankung |
| DDB1damage specific DNA binding protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DISP1dispatched RND transporter family member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DLL1delta like canonical Notch ligand 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Manchmal (5–29 %) | In 1 Erkrankung |
| DOT1LDOT1 like histone lysine methyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| EIF4Heukaryotic translation initiation factor 4H | Manchmal (5–29 %) | In 1 Erkrankung |
| ELNelastin | Manchmal (5–29 %) | In 2 Erkrankungen |
| EXT2exostosin glycosyltransferase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXO22F-box protein 22 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGF13fibroblast growth factor 13 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGF8fibroblast growth factor 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGFR1fibroblast growth factor receptor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Manchmal (5–29 %) | In 1 Erkrankung |
| FLCNfolliculin | Manchmal (5–29 %) | In 1 Erkrankung |
| FMR1fragile X messenger ribonucleoprotein 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| FOXH1forkhead box H1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXN1forkhead box N1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXP1forkhead box P1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXP3forkhead box P3 | Manchmal (5–29 %) | In 2 Erkrankungen |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Manchmal (5–29 %) | In 1 Erkrankung |
| GAS1growth arrest specific 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GCH1GTP cyclohydrolase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GLI2GLI family zinc finger 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GNA11G protein subunit alpha 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| GP1BBglycoprotein Ib platelet subunit beta | Manchmal (5–29 %) | In 1 Erkrankung |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Manchmal (5–29 %) | In 1 Erkrankung |
| GRM7glutamate metabotropic receptor 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2Igeneral transcription factor IIi | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2IRD1GTF2I repeat domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GTF2IRD2GTF2I repeat domain containing 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| HBBhemoglobin subunit beta | Manchmal (5–29 %) | In 3 Erkrankungen |
| HDAC4histone deacetylase 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| HFEhomeostatic iron regulator | Manchmal (5–29 %) | In 1 Erkrankung |
| HGDhomogentisate 1,2-dioxygenase | Manchmal (5–29 %) | In 1 Erkrankung |
| HIRAhistone cell cycle regulator | Manchmal (5–29 %) | In 1 Erkrankung |
| HMGA2high mobility group AT-hook 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| HNF1BHNF1 homeobox B | Manchmal (5–29 %) | In 1 Erkrankung |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Manchmal (5–29 %) | In 2 Erkrankungen |
| HPD4-hydroxyphenylpyruvate dioxygenase | Manchmal (5–29 %) | In 1 Erkrankung |
| HSPG2heparan sulfate proteoglycan 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| HYMAIhydatidiform mole associated and imprinted | Manchmal (5–29 %) | In 1 Erkrankung |
| IFIH1interferon induced with helicase C domain 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| IFT172intraflagellar transport 172 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT27intraflagellar transport 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT74intraflagellar transport 74 | Manchmal (5–29 %) | In 1 Erkrankung |
| IGF2insulin like growth factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| IL2RGinterleukin 2 receptor subunit gamma | Manchmal (5–29 %) | In 1 Erkrankung |
| IL7Rinterleukin 7 receptor | Manchmal (5–29 %) | In 1 Erkrankung |
| IMPDH2inosine monophosphate dehydrogenase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| INSRinsulin receptor | Manchmal (5–29 %) | In 1 Erkrankung |
| IPO8importin 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| IRF4interferon regulatory factor 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| JMJD1Cjumonji domain containing 1C | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| KISS1RKISS1 receptor | Manchmal (5–29 %) | In 1 Erkrankung |
| KMT2Blysine methyltransferase 2B | Manchmal (5–29 %) | In 1 Erkrankung |
| LIFRLIF receptor subunit alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| LIMK1LIM domain kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| LRBALPS responsive beige-like anchor protein | Manchmal (5–29 %) | In 1 Erkrankung |
| LRP4LDL receptor related protein 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| LSM11LSM11, U7 small nuclear RNA associated | Manchmal (5–29 %) | In 1 Erkrankung |
| LUZP1leucine zipper protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| LZTFL1leucine zipper transcription factor like 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MDM4MDM4 regulator of p53 | Manchmal (5–29 %) | In 1 Erkrankung |
| METTL27methyltransferase like 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| MKKSMKKS centrosomal shuttling protein | Manchmal (5–29 %) | In 1 Erkrankung |
| MKS1MKS transition zone complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MLXIPLMLX interacting protein like | Manchmal (5–29 %) | In 1 Erkrankung |
| MMP23Bmatrix metallopeptidase 23B | Manchmal (5–29 %) | In 1 Erkrankung |
| MOGSmannosyl-oligosaccharide glucosidase | Manchmal (5–29 %) | In 1 Erkrankung |
| MPImannose phosphate isomerase | Manchmal (5–29 %) | In 1 Erkrankung |
| MPV17mitochondrial inner membrane protein MPV17 | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| NCF1neutrophil cytosolic factor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NODALnodal growth differentiation factor | Manchmal (5–29 %) | In 1 Erkrankung |
| NPHP1nephrocystin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| NUDCD3NudC domain containing 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| PDPNpodoplanin | Manchmal (5–29 %) | In 1 Erkrankung |
| PHF21APHD finger protein 21A | Manchmal (5–29 %) | In 1 Erkrankung |
| PLAAT3phospholipase A and acyltransferase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| PLAG1PLAG1 zinc finger | Manchmal (5–29 %) | In 1 Erkrankung |
| PLAGL1PLAG1 like zinc finger 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Manchmal (5–29 %) | In 2 Erkrankungen |
| PRDM16PR/SET domain 16 | Manchmal (5–29 %) | In 1 Erkrankung |
| PRKCZprotein kinase C zeta | Manchmal (5–29 %) | In 1 Erkrankung |
| PSMB10proteasome 20S subunit beta 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| PTCH1patched 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| RAG1recombination activating 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| RAG2recombination activating 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RAI1retinoic acid induced 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| REREarginine-glutamic acid dipeptide repeats | Manchmal (5–29 %) | In 1 Erkrankung |
| RFC2replication factor C subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Manchmal (5–29 %) | In 1 Erkrankung |
| RNASEH2Aribonuclease H2 subunit A | Manchmal (5–29 %) | In 1 Erkrankung |
| RNASEH2Bribonuclease H2 subunit B | Manchmal (5–29 %) | In 1 Erkrankung |
| RNASEH2Cribonuclease H2 subunit C | Manchmal (5–29 %) | In 1 Erkrankung |
| RNU4-2RNA, U4 small nuclear 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RREB1ras responsive element binding protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SALL1spalt like transcription factor 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SCAPERS-phase cyclin A associated protein in the ER | Manchmal (5–29 %) | In 1 Erkrankung |
| SCLT1sodium channel and clathrin linker 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Manchmal (5–29 %) | In 1 Erkrankung |
| SEC24CSEC24 homolog C, COPII component | Manchmal (5–29 %) | In 1 Erkrankung |
| SHHsonic hedgehog signaling molecule | Manchmal (5–29 %) | In 1 Erkrankung |
| SIX3SIX homeobox 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| SKISKI proto-oncogene | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC37A4solute carrier family 37 member 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC6A17solute carrier family 6 member 17 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLF2SMC5/6 complex localization factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SPENspen family transcriptional repressor | Manchmal (5–29 %) | In 1 Erkrankung |
| SRD5A3steroid 5 alpha-reductase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| SRYsex determining region Y | Manchmal (5–29 %) | In 1 Erkrankung |
| STAT1signal transducer and activator of transcription 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| STAT3signal transducer and activator of transcription 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| STEAP3STEAP3 metalloreductase | Manchmal (5–29 %) | In 1 Erkrankung |
| STX1Asyntaxin 1A | Manchmal (5–29 %) | In 1 Erkrankung |
| SUFUSUFU negative regulator of hedgehog signaling | Manchmal (5–29 %) | In 1 Erkrankung |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| SVBPsmall vasohibin binding protein | Manchmal (5–29 %) | In 1 Erkrankung |
| TBL2transducin beta like 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TBX1T-box transcription factor 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| TFtransferrin | Manchmal (5–29 %) | In 1 Erkrankung |
| TGIF1TGFB induced factor homeobox 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM270transmembrane protein 270 | Manchmal (5–29 %) | In 1 Erkrankung |
| TONSLtonsoku like, DNA repair protein | Manchmal (5–29 %) | In 1 Erkrankung |
| TREX1three prime repair exonuclease 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| TRIM32tripartite motif containing 32 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRIP13thyroid hormone receptor interactor 13 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRMT10AtRNA methyltransferase 10A | Manchmal (5–29 %) | In 1 Erkrankung |
| TTC8tetratricopeptide repeat domain 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| UBE4Bubiquitination factor E4B | Manchmal (5–29 %) | In 1 Erkrankung |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Manchmal (5–29 %) | In 1 Erkrankung |
| VPS33BVPS33B late endosome and lysosome associated | Manchmal (5–29 %) | In 1 Erkrankung |
| VPS37DVPS37D subunit of ESCRT-I | Manchmal (5–29 %) | In 1 Erkrankung |
| WDPCPWD repeat containing planar cell polarity effector | Manchmal (5–29 %) | In 1 Erkrankung |
| WFS1wolframin ER transmembrane glycoprotein | Manchmal (5–29 %) | In 2 Erkrankungen |
| YY1YY1 transcription factor | Manchmal (5–29 %) | In 1 Erkrankung |
| ZFP57ZFP57 zinc finger protein | Manchmal (5–29 %) | In 1 Erkrankung |
| ZFXzinc finger protein X-linked | Manchmal (5–29 %) | In 1 Erkrankung |
| ZIC2Zic family zinc finger 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ABCB11ATP binding cassette subfamily B member 11 | Selten (1–4 %) | In 1 Erkrankung |
| ABCB4ATP binding cassette subfamily B member 4 | Selten (1–4 %) | In 1 Erkrankung |
| ACP5acid phosphatase 5, tartrate resistant | Selten (1–4 %) | In 2 Erkrankungen |
| ADAMTSL2ADAMTS like 2 | Selten (1–4 %) | In 1 Erkrankung |
| ADAT3adenosine deaminase tRNA specific 3 | Selten (1–4 %) | In 1 Erkrankung |
| APC2APC regulator of Wnt signaling pathway 2 | Selten (1–4 %) | In 1 Erkrankung |
| ATP8B1ATPase phospholipid transporting 8B1 | Selten (1–4 %) | In 1 Erkrankung |
| BTNL2butyrophilin like 2 | Selten (1–4 %) | In 1 Erkrankung |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Selten (1–4 %) | In 1 Erkrankung |
| DNM1Ldynamin 1L | Selten (1–4 %) | In 1 Erkrankung |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Selten (1–4 %) | In 1 Erkrankung |
| FBN1fibrillin 1 | Selten (1–4 %) | In 1 Erkrankung |
| FDX2ferredoxin 2 | Selten (1–4 %) | In 1 Erkrankung |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Selten (1–4 %) | In 1 Erkrankung |
| LTBP3latent transforming growth factor beta binding protein 3 | Selten (1–4 %) | In 1 Erkrankung |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Selten (1–4 %) | In 1 Erkrankung |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Selten (1–4 %) | In 1 Erkrankung |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Selten (1–4 %) | In 1 Erkrankung |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Selten (1–4 %) | In 1 Erkrankung |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Selten (1–4 %) | In 1 Erkrankung |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Selten (1–4 %) | In 1 Erkrankung |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Selten (1–4 %) | In 1 Erkrankung |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Selten (1–4 %) | In 1 Erkrankung |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Selten (1–4 %) | In 1 Erkrankung |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Selten (1–4 %) | In 1 Erkrankung |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Selten (1–4 %) | In 1 Erkrankung |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Selten (1–4 %) | In 1 Erkrankung |
| MTTPmicrosomal triglyceride transfer protein | Selten (1–4 %) | In 1 Erkrankung |
| NR1H4nuclear receptor subfamily 1 group H member 4 | Selten (1–4 %) | In 1 Erkrankung |
| NSD1nuclear receptor binding SET domain protein 1 | Selten (1–4 %) | In 1 Erkrankung |
| OPA1OPA1 mitochondrial dynamin like GTPase | Selten (1–4 %) | In 1 Erkrankung |
| POLGDNA polymerase gamma, catalytic subunit | Selten (1–4 %) | In 1 Erkrankung |
| POLG2DNA polymerase gamma 2, accessory subunit | Selten (1–4 %) | In 1 Erkrankung |
| PPIBpeptidylprolyl isomerase B | Selten (1–4 %) | In 1 Erkrankung |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Selten (1–4 %) | In 1 Erkrankung |
| SAA1serum amyloid A1 | Selten (1–4 %) | In 1 Erkrankung |
| SKIC2SKI2 subunit of superkiller complex | Selten (1–4 %) | In 1 Erkrankung |
| SKIC3SKI3 subunit of superkiller complex | Selten (1–4 %) | In 1 Erkrankung |
| SLC25A4solute carrier family 25 member 4 | Selten (1–4 %) | In 1 Erkrankung |
| STUB1STIP1 homology and U-box containing protein 1 | Selten (1–4 %) | In 1 Erkrankung |
| TWNKtwinkle mtDNA helicase | Selten (1–4 %) | In 1 Erkrankung |
| ALMS1ALMS1 centrosome and basal body associated protein | Nicht erfasst | In 1 Erkrankung |
| BMP4bone morphogenetic protein 4 | Nicht erfasst | In 1 Erkrankung |
| DUOX2dual oxidase 2 | Nicht erfasst | In 1 Erkrankung |
| DUOXA2dual oxidase maturation factor 2 | Nicht erfasst | In 1 Erkrankung |
| GYG1glycogenin 1 | Nicht erfasst | In 1 Erkrankung |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Nicht erfasst | In 1 Erkrankung |
| IFNGinterferon gamma | Nicht erfasst | In 1 Erkrankung |
| IYDiodotyrosine deiodinase | Nicht erfasst | In 1 Erkrankung |
| JAK1Janus kinase 1 | Nicht erfasst | In 1 Erkrankung |
| MCM8minichromosome maintenance 8 homologous recombination repair factor | Nicht erfasst | In 1 Erkrankung |
| NPHS1NPHS1 adhesion molecule, nephrin | Nicht erfasst | In 1 Erkrankung |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nicht erfasst | In 1 Erkrankung |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nicht erfasst | In 1 Erkrankung |
| PLVAPplasmalemma vesicle associated protein | Nicht erfasst | In 1 Erkrankung |
| PMM2phosphomannomutase 2 | Nicht erfasst | In 1 Erkrankung |
| PROP1PROP paired-like homeobox 1 | Nicht erfasst | In 1 Erkrankung |
| PTENphosphatase and tensin homolog | Nicht erfasst | In 1 Erkrankung |
| SLC16A2solute carrier family 16 member 2 | Nicht erfasst | In 1 Erkrankung |
| SLC5A5solute carrier family 5 member 5 | Nicht erfasst | In 1 Erkrankung |
| SOX3SRY-box transcription factor 3 | Nicht erfasst | In 1 Erkrankung |
| TANGO2transport and golgi organization 2 homolog | Nicht erfasst | In 1 Erkrankung |
| TSC1TSC complex subunit 1 | Nicht erfasst | In 1 Erkrankung |
| TSC2TSC complex subunit 2 | Nicht erfasst | In 1 Erkrankung |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Nicht erfasst | In 1 Erkrankung |
| XRCC4X-ray repair cross complementing 4 | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Untergeordnete Merkmale
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.16-c6eea6bf.
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