Egenskap
High forehead
An abnormally increased height of the forehead.
Sammendrag
- Også kalt
- Tall forehead
- Kroppssystem
- Abnormality of head or neck
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der High forehead 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 |
|---|---|---|
| ACTBactin beta | Alltid | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alltid | I 1 tilstand |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Alltid | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Alltid | I 2 tilstander |
| BNIP1BCL2 interacting protein 1 | Alltid | I 1 tilstand |
| C1GALT1C1C1GALT1 specific chaperone 1 | Alltid | I 1 tilstand |
| CDH1cadherin 1 | Alltid | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Alltid | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 1 tilstand |
| EXOSC1exosome component 1 | Alltid | I 1 tilstand |
| GH1growth hormone 1 | Alltid | I 1 tilstand |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alltid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| IGBP1immunoglobulin binding protein 1 | Alltid | I 2 tilstander |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Alltid | I 1 tilstand |
| NFIXnuclear factor I X | Alltid | I 3 tilstander |
| NRASNRAS proto-oncogene, GTPase | Alltid | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Alltid | I 3 tilstander |
| NXNnucleoredoxin | Alltid | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Alltid | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Alltid | I 3 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Alltid | I 3 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Alltid | I 3 tilstander |
| PEX3peroxisomal biogenesis factor 3 | Alltid | I 4 tilstander |
| POC1APOC1 centriolar protein A | Alltid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Alltid | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Alltid | I 1 tilstand |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Alltid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Alltid | I 1 tilstand |
Vis 306 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RNF113Aring finger protein 113A | Alltid | I 1 tilstand |
| RPL17ribosomal protein L17 | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alltid | I 1 tilstand |
| THOC6THO complex subunit 6 | Alltid | I 2 tilstander |
| TRA2Btransformer 2 beta homolog | Alltid | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alltid | I 3 tilstander |
| UBA2ubiquitin like modifier activating enzyme 2 | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 2 tilstander |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Svært ofte (80–99 %) | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Svært ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Svært ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Svært ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| CDH11cadherin 11 | Svært ofte (80–99 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 9 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 2 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Svært ofte (80–99 %) | I 2 tilstander |
| MEF2Cmyocyte enhancer factor 2C | Svært ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 2 tilstander |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 2 tilstander |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 4 tilstander |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Svært ofte (80–99 %) | I 2 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SIX2SIX homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Svært ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Svært ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Svært ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Svært ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Svært ofte (80–99 %) | I 2 tilstander |
| ZDHHC9zDHHC palmitoyltransferase 9 | Svært ofte (80–99 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Ofte (30–79 %) | I 1 tilstand |
| CCND2cyclin D2 | Ofte (30–79 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FUT8fucosyltransferase 8 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstander |
| GTF3C3general transcription factor IIIC subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| IL11RAinterleukin 11 receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Ofte (30–79 %) | I 2 tilstander |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstander |
| MAN2C1mannosidase alpha class 2C member 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 2 tilstander |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Ofte (30–79 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Ofte (30–79 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 2 tilstander |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 3 tilstander |
| SCNM1sodium channel modifier 1 | Ofte (30–79 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ofte (30–79 %) | I 1 tilstand |
| SHPKsedoheptulokinase | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 2 tilstander |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 2 tilstander |
| TSHZ3teashirt zinc finger homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Ofte (30–79 %) | I 2 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 2 tilstander |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 2 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Noen ganger (5–29 %) | I 2 tilstander |
| BCL11ABCL11 transcription factor A | 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 2 tilstander |
| BUB3BUB3 mitotic checkpoint protein | Noen ganger (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 2 tilstander |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRMPD4FERM and PDZ domain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT5Blysine methyltransferase 5B | Noen ganger (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| STRADASTE20 related adaptor alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 2 tilstander |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjelden (1–4%) | I 2 tilstander |
| NEU1neuraminidase 1 | Sjelden (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| AGO1argonaute RISC component 1 | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registrert | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ikke registrert | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registrert | I 1 tilstand |
| CTNND1catenin delta 1 | Ikke registrert | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registrert | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registrert | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registrert | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registrert | I 1 tilstand |
| FBXO11F-box protein 11 | Ikke registrert | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registrert | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ikke registrert | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registrert | I 1 tilstand |
| LBRlamin B receptor | Ikke registrert | I 1 tilstand |
| MDH1malate dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registrert | I 1 tilstand |
| NFIBnuclear factor I B | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| SERPINH1serpin family H member 1 | Ikke registrert | I 1 tilstand |
| SETBP1SET binding protein 1 | Ikke registrert | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registrert | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Ikke registrert | I 1 tilstand |
| SYT1synaptotagmin 1 | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Ikke registrert | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registrert | I 1 tilstand |
| TP63tumor protein p63 | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
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.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker