Tunnus
Failure of development of between one and six teeth
Kliiniline nimetus: Hypodontia
The absence of five or less teeth from the normal series by a failure to develop.
Kokkuvõte
- Teised nimetused
- Missing between one and six teeth
- Kehasüsteem
- Abnormality of head or neck
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Failure of development of between one and six teeth, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test242 geeni on seotud tunnusega Failure of development of between one and six teeth
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Failure of development of between one and six teeth. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AMOTL1angiomotin like 1 | Alati | Esineb 1 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Alati | Esineb 2 haiguses |
| EDAectodysplasin A | Alati | Esineb 2 haiguses |
| EDARADDEDAR associated via death domain | Alati | Esineb 5 haiguses |
| GRHL2grainyhead like transcription factor 2 | Alati | Esineb 1 haiguses |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Alati | Esineb 4 haiguses |
| IRX5iroquois homeobox 5 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| LEMD2LEM domain nuclear envelope protein 2 | Alati | Esineb 1 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Alati | Esineb 4 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alati | Esineb 1 haiguses |
| PTBP1polypyrimidine tract binding protein 1 | Alati | Esineb 1 haiguses |
| TP63tumor protein p63 | Alati | Esineb 7 haiguses |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Alati | Esineb 1 haiguses |
| UBE3Cubiquitin protein ligase E3C | Alati | Esineb 1 haiguses |
| WNT10AWnt family member 10A | Alati | Esineb 3 haiguses |
| ACOX1acyl-CoA oxidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CTNNB1catenin beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EDARectodysplasin A receptor | Väga sageli (80–99%) | Esineb 3 haiguses |
| EVCEvC ciliary complex subunit 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| EVC2EvC ciliary complex subunit 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KDF1keratinocyte differentiation factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LRP6LDL receptor related protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MSX1msh homeobox 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| NELFAnegative elongation factor complex member A | Väga sageli (80–99%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Väga sageli (80–99%) | Esineb 5 haiguses |
| POLR3BRNA polymerase III subunit B | Väga sageli (80–99%) | Esineb 2 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TRAF6TNF receptor associated factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 202 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Sageli (30–79%) | Esineb 2 haiguses |
| ARL6ARF like GTPase 6 | Sageli (30–79%) | Esineb 2 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Sageli (30–79%) | Esineb 2 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Sageli (30–79%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sageli (30–79%) | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Sageli (30–79%) | Esineb 2 haiguses |
| CHSY1chondroitin sulfate synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CLDN1claudin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CTC1CST telomere replication complex component 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DDX59DEAD-box helicase 59 | Sageli (30–79%) | Esineb 2 haiguses |
| DKC1dyskerin pseudouridine synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sageli (30–79%) | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sageli (30–79%) | Esineb 1 haiguses |
| GDF5growth differentiation factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GLI1GLI family zinc finger 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT122intraflagellar transport 122 | Sageli (30–79%) | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT43intraflagellar transport 43 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT52intraflagellar transport 52 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Sageli (30–79%) | Esineb 1 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM6Alysine demethylase 6A | Sageli (30–79%) | Esineb 2 haiguses |
| KMT2Alysine methyltransferase 2A | Sageli (30–79%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Sageli (30–79%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sageli (30–79%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Sageli (30–79%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MLXIPLMLX interacting protein like | Sageli (30–79%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NHP2NHP2 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| NOP10NOP10 ribonucleoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NPM1nucleophosmin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD5OTU deubiquitinase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PARNpoly(A)-specific ribonuclease | Sageli (30–79%) | Esineb 1 haiguses |
| PERPp53 apoptosis effector related to PMP22 | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3KRNA polymerase III subunit K | Sageli (30–79%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Sageli (30–79%) | Esineb 2 haiguses |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Sageli (30–79%) | Esineb 2 haiguses |
| PUS7pseudouridine synthase 7 | Sageli (30–79%) | Esineb 1 haiguses |
| RBM28RNA binding motif protein 28 | Sageli (30–79%) | Esineb 2 haiguses |
| RFC2replication factor C subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RTEL1regulator of telomere elongation helicase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Sageli (30–79%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCNM1sodium channel modifier 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sageli (30–79%) | Esineb 1 haiguses |
| STX1Asyntaxin 1A | Sageli (30–79%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TERCtelomerase RNA component | Sageli (30–79%) | Esineb 1 haiguses |
| TERTtelomerase reverse transcriptase | Sageli (30–79%) | Esineb 1 haiguses |
| TINF2TERF1 interacting nuclear factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Sageli (30–79%) | Esineb 1 haiguses |
| TYMSthymidylate synthetase | Sageli (30–79%) | Esineb 1 haiguses |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Sageli (30–79%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Sageli (30–79%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | Sageli (30–79%) | Esineb 1 haiguses |
| WRAP53WD repeat containing antisense to TP53 | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP152centrosomal protein 152 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP85Lcentrosomal protein 85L | Mõnikord (5–29%) | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| CTSKcathepsin K | Mõnikord (5–29%) | Esineb 2 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNM1dynamin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EP300EP300 lysine acetyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO28F-box protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF10fibroblast growth factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF3fibroblast growth factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXC1forkhead box C1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| FOXG1forkhead box G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRHL3grainyhead like transcription factor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMGA2high mobility group AT-hook 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Mõnikord (5–29%) | Esineb 4 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LEMD3LEM domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMNAlamin A/C | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTX2metaxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NKX6-2NK6 homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| PITX2paired like homeodomain 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| POLR1ARNA polymerase I subunit A | Mõnikord (5–29%) | Esineb 1 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF13ring finger protein 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC1A2solute carrier family 1 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMG8SMG8 nonsense mediated mRNA decay factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX3T-box transcription factor 3 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRAK1trafficking kinesin protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Harva (1–4%) | Esineb 1 haiguses |
| MID1midline 1 | Harva (1–4%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| TAF11TATA-box binding protein associated factor 11 | Harva (1–4%) | Esineb 1 haiguses |
| BCL11BBCL11 transcription factor B | Pole registreeritud | Esineb 1 haiguses |
| CCDC28Bcoiled-coil domain containing 28B | Pole registreeritud | Esineb 1 haiguses |
| CDH1cadherin 1 | Pole registreeritud | Esineb 1 haiguses |
| COL17A1collagen type XVII alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Pole registreeritud | Esineb 1 haiguses |
| FLNBfilamin B | Pole registreeritud | Esineb 1 haiguses |
| HSPA9heat shock protein family A (Hsp70) member 9 | Pole registreeritud | Esineb 1 haiguses |
| LAMB3laminin subunit beta 3 | Pole registreeritud | Esineb 1 haiguses |
| NFKBIANFKB inhibitor alpha | Pole registreeritud | Esineb 1 haiguses |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Pole registreeritud | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Pole registreeritud | Esineb 1 haiguses |
| SLC39A13solute carrier family 39 member 13 | Pole registreeritud | Esineb 1 haiguses |
| TRIM37tripartite motif containing 37 | Pole registreeritud | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
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