Træk
Failure of development of between one and six teeth
Klinisk navn: Hypodontia
The absence of five or less teeth from the normal series by a failure to develop.
Resumé
- Også kaldet
- Missing between one and six teeth
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Failure of development of between one and six teeth, and the rest of your genome, with one test.
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Bestil min Genome Test242 gener knyttet til Failure of development of between one and six teeth
Ændringer i disse gener forårsager sjældne tilstande, hvor Failure of development of between one and six teeth ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Altid | I 2 tilstande |
| EDAectodysplasin A | Altid | I 2 tilstande |
| EDARADDEDAR associated via death domain | Altid | I 5 tilstande |
| GRHL2grainyhead like transcription factor 2 | Altid | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Altid | I 4 tilstande |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LEMD2LEM domain nuclear envelope protein 2 | Altid | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Altid | I 4 tilstande |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Altid | I 1 tilstand |
| TP63tumor protein p63 | Altid | I 7 tilstande |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Altid | I 1 tilstand |
| UBE3Cubiquitin protein ligase E3C | Altid | I 1 tilstand |
| WNT10AWnt family member 10A | Altid | I 3 tilstande |
| ACOX1acyl-CoA oxidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CTNNB1catenin beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| EDARectodysplasin A receptor | Meget ofte (80–99 %) | I 3 tilstande |
| EVCEvC ciliary complex subunit 1 | Meget ofte (80–99 %) | I 3 tilstande |
| EVC2EvC ciliary complex subunit 2 | Meget ofte (80–99 %) | I 3 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| KDF1keratinocyte differentiation factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| LRP6LDL receptor related protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| MSX1msh homeobox 1 | Meget ofte (80–99 %) | I 4 tilstande |
| NELFAnegative elongation factor complex member A | Meget ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Meget ofte (80–99 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Meget ofte (80–99 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 5 tilstande |
| POLR3BRNA polymerase III subunit B | Meget ofte (80–99 %) | I 2 tilstande |
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 2 tilstande |
| TRAF6TNF receptor associated factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Ofte (30–79 %) | I 1 tilstand |
Vis 202 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofte (30–79 %) | I 2 tilstande |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 2 tilstande |
| BBS10Bardet-Biedl syndrome 10 | Ofte (30–79 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ofte (30–79 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Ofte (30–79 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Ofte (30–79 %) | I 2 tilstande |
| CHSY1chondroitin sulfate synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| CLDN1claudin 1 | Ofte (30–79 %) | I 2 tilstande |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ofte (30–79 %) | I 1 tilstand |
| DDX59DEAD-box helicase 59 | Ofte (30–79 %) | I 2 tilstande |
| DKC1dyskerin pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 2 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 2 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| GDF5growth differentiation factor 5 | Ofte (30–79 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| IFT122intraflagellar transport 122 | Ofte (30–79 %) | I 2 tilstande |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IFT52intraflagellar transport 52 | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstande |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Ofte (30–79 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Ofte (30–79 %) | I 1 tilstand |
| NOP10NOP10 ribonucleoprotein | Ofte (30–79 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| NPM1nucleophosmin 1 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PARNpoly(A)-specific ribonuclease | Ofte (30–79 %) | I 1 tilstand |
| PERPp53 apoptosis effector related to PMP22 | Ofte (30–79 %) | I 1 tilstand |
| POLR3KRNA polymerase III subunit K | Ofte (30–79 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 2 tilstande |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofte (30–79 %) | I 2 tilstande |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RBM28RNA binding motif protein 28 | Ofte (30–79 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RTEL1regulator of telomere elongation helicase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Ofte (30–79 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Ofte (30–79 %) | I 1 tilstand |
| SCNM1sodium channel modifier 1 | Ofte (30–79 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TERCtelomerase RNA component | Ofte (30–79 %) | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ofte (30–79 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Ofte (30–79 %) | I 1 tilstand |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Ofte (30–79 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ofte (30–79 %) | I 1 tilstand |
| TYMSthymidylate synthetase | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| WRAP53WD repeat containing antisense to TP53 | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Nogle gange (5–29 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Nogle gange (5–29 %) | I 2 tilstande |
| CTSKcathepsin K | Nogle gange (5–29 %) | I 2 tilstande |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Nogle gange (5–29 %) | I 2 tilstande |
| FOXG1forkhead box G1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRHL3grainyhead like transcription factor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nogle gange (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Nogle gange (5–29 %) | I 4 tilstande |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Nogle gange (5–29 %) | I 2 tilstande |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Nogle gange (5–29 %) | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| RNF13ring finger protein 13 | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC1A2solute carrier family 1 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Nogle gange (5–29 %) | I 1 tilstand |
| TBX3T-box transcription factor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| MID1midline 1 | Sjældent (1–4%) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Sjældent (1–4%) | I 1 tilstand |
| TAF11TATA-box binding protein associated factor 11 | Sjældent (1–4%) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| CDH1cadherin 1 | Ikke registreret | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Ikke registreret | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ikke registreret | I 1 tilstand |
| FLNBfilamin B | Ikke registreret | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ikke registreret | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Ikke registreret | I 1 tilstand |
| NFKBIANFKB inhibitor alpha | Ikke registreret | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ikke registreret | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registreret | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ikke registreret | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Ikke registreret | I 1 tilstand |
| SLC39A13solute carrier family 39 member 13 | Ikke registreret | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Ikke registreret | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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