Træk
Little lower jaw
Klinisk navn: Micrognathia
Developmental hypoplasia of the mandible.
Resumé
- Også kaldet
- Small jaw, Small lower jaw, Decreased size of lower jaw, Decreased size of mandible, Hypoplasia of lower jaw, Hypoplasia of mandible, Hypoplastic mandible, Hypoplastic mandible condyle, Hypotrophic lower jaw, Hypotrophic mandible, Little mandible, Lower jaw deficiency, Lower jaw hypoplasia, Mandibular deficiency, Mandibular hypoplasia, Mandibular micrognathia, Micrognathia of lower jaw, Micromandible, Robin mandible, Severe hypoplasia of mandible, Small mandible, Underdevelopment of lower jaw, Underdevelopment of mandible
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Little lower jaw 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 |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Altid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 2 tilstande |
| AMMECR1AMMECR nuclear protein 1 | Altid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Altid | I 2 tilstande |
| ARCN1archain 1 coat protein complex I subunit delta | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Altid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Altid | I 3 tilstande |
| BANF1barrier to autointegration nuclear assembly factor 1 | Altid | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Altid | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CDC6cell division cycle 6 | Altid | I 2 tilstande |
| CDK5cyclin dependent kinase 5 | Altid | I 1 tilstand |
| CEP152centrosomal protein 152 | Altid | I 2 tilstande |
| CEP57centrosomal protein 57 | Altid | I 2 tilstande |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Altid | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Altid | I 2 tilstande |
| COG7component of oligomeric golgi complex 7 | Altid | I 2 tilstande |
| COL13A1collagen type XIII alpha 1 chain | Altid | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Altid | I 2 tilstande |
| CPEcarboxypeptidase E | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| CTCFCCCTC-binding factor | Altid | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Altid | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Altid | I 2 tilstande |
| DNA2DNA replication helicase/nuclease 2 | Altid | I 2 tilstande |
| DPH1diphthamide biosynthesis 1 | Altid | I 2 tilstande |
| EBPEBP cholestenol delta-isomerase | Altid | I 2 tilstande |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Altid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Altid | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Altid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 2 tilstande |
Vis 794 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FBXO28F-box protein 28 | Altid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 6 tilstande |
| FLNBfilamin B | Altid | I 4 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Altid | I 2 tilstande |
| GOLGA2golgin A2 | Altid | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Altid | I 1 tilstand |
| GSCgoosecoid homeobox | Altid | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Altid | I 4 tilstande |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Altid | I 2 tilstande |
| HYOU1hypoxia up-regulated 1 | Altid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Altid | I 2 tilstande |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Altid | I 2 tilstande |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Altid | I 1 tilstand |
| LMNAlamin A/C | Altid | I 6 tilstande |
| MAD1L1mitotic arrest deficient 1 like 1 | Altid | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Altid | I 3 tilstande |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 2 tilstande |
| MCM5minichromosome maintenance complex component 5 | Altid | I 1 tilstand |
| MED12mediator complex subunit 12 | Altid | I 5 tilstande |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 3 tilstande |
| MYMKmyomaker, myoblast fusion factor | Altid | I 2 tilstande |
| MYMXmyomixer, myoblast fusion factor | Altid | I 2 tilstande |
| NALCNsodium leak channel, non-selective | Altid | I 4 tilstande |
| NBNnibrin | Altid | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Altid | I 2 tilstande |
| NFASCneurofascin | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 3 tilstande |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Altid | I 3 tilstande |
| NUP107nucleoporin 107 | Altid | I 3 tilstande |
| NUP88nucleoporin 88 | Altid | I 2 tilstande |
| NXNnucleoredoxin | Altid | I 2 tilstande |
| ORC4origin recognition complex subunit 4 | Altid | I 2 tilstande |
| ORC6origin recognition complex subunit 6 | Altid | I 2 tilstande |
| PAK2p21 (RAC1) activated kinase 2 | Altid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Altid | I 2 tilstande |
| PEX14peroxisomal biogenesis factor 14 | Altid | I 2 tilstande |
| PI4KAphosphatidylinositol 4-kinase alpha | Altid | I 3 tilstande |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 3 tilstande |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Altid | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Altid | I 3 tilstande |
| PLVAPplasmalemma vesicle associated protein | Altid | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Altid | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Altid | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Altid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Altid | I 2 tilstande |
| PSAT1phosphoserine aminotransferase 1 | Altid | I 2 tilstande |
| PSMC1proteasome 26S subunit, ATPase 1 | Altid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 4 tilstande |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Altid | I 2 tilstande |
| RBBP8RB binding protein 8, endonuclease | Altid | I 2 tilstande |
| RBM10RNA binding motif protein 10 | Altid | I 2 tilstande |
| RECQL4RecQ like helicase 4 | Altid | I 3 tilstande |
| RIN2Ras and Rab interactor 2 | Altid | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Altid | I 2 tilstande |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Altid | I 1 tilstand |
| RPS28ribosomal protein S28 | Altid | I 2 tilstande |
| RYR3ryanodine receptor 3 | Altid | I 1 tilstand |
| SATB2SATB homeobox 2 | Altid | I 4 tilstande |
| SC5Dsterol-C5-desaturase | Altid | I 2 tilstande |
| SCARF2scavenger receptor class F member 2 | Altid | I 2 tilstande |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 2 tilstande |
| SEC31ASEC31 homolog A, COPII component | Altid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Altid | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Altid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Altid | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Altid | I 3 tilstande |
| SP7Sp7 transcription factor | Altid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| SPRTNSprT-like N-terminal domain | Altid | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Altid | I 2 tilstande |
| TBCEtubulin folding cofactor E | Altid | I 2 tilstande |
| TBX5T-box transcription factor 5 | Altid | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Altid | I 2 tilstande |
| TCP1t-complex 1 | Altid | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Altid | I 2 tilstande |
| THOC2THO complex subunit 2 | Altid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Altid | I 1 tilstand |
| TOMM7translocase of outer mitochondrial membrane 7 | Altid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TRAIPTRAF interacting protein | Altid | I 2 tilstande |
| TSR2TSR2 ribosome maturation factor | Altid | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Altid | I 2 tilstande |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Altid | I 2 tilstande |
| VPS35LVPS35 endosomal protein sorting factor like | Altid | I 2 tilstande |
| VPS53VPS53 subunit of GARP complex | Altid | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Altid | I 5 tilstande |
| ACTBactin beta | Meget ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ALX4ALX homeobox 4 | Meget ofte (80–99 %) | I 1 tilstand |
| ANK1ankyrin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ATRATR checkpoint kinase | Meget ofte (80–99 %) | I 2 tilstande |
| ATRIPATR interacting protein | Meget ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 3 tilstande |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Meget ofte (80–99 %) | I 2 tilstande |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 2 tilstande |
| CDC45cell division cycle 45 | Meget ofte (80–99 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Meget ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CENPEcentromere protein E | Meget ofte (80–99 %) | I 2 tilstande |
| CEP295centrosomal protein 295 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP63centrosomal protein 63 | Meget ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Meget ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| CPAPcentrosome assembly and centriole elongation protein | Meget ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Meget ofte (80–99 %) | I 3 tilstande |
| CRTAPcartilage associated protein | Meget ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CTDP1CTD phosphatase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Meget ofte (80–99 %) | I 2 tilstande |
| DDX3XDEAD-box helicase 3 X-linked | Meget ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 2 tilstande |
| DHCR77-dehydrocholesterol reductase | Meget ofte (80–99 %) | I 2 tilstande |
| DHODHdihydroorotate dehydrogenase (quinone) | Meget ofte (80–99 %) | I 2 tilstande |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Meget ofte (80–99 %) | I 2 tilstande |
| DOK7docking protein 7 | Meget ofte (80–99 %) | I 2 tilstande |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Meget ofte (80–99 %) | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Meget ofte (80–99 %) | I 2 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| EP300EP300 lysine acetyltransferase | Meget ofte (80–99 %) | I 4 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Meget ofte (80–99 %) | I 2 tilstande |
| ERMARDER membrane associated RNA degradation | Meget ofte (80–99 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Meget ofte (80–99 %) | I 2 tilstande |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Meget ofte (80–99 %) | I 2 tilstande |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| FGFR2fibroblast growth factor receptor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Meget ofte (80–99 %) | I 2 tilstande |
| FILIP1filamin A interacting protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Meget ofte (80–99 %) | I 1 tilstand |
| GLDNgliomedin | Meget ofte (80–99 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Meget ofte (80–99 %) | I 3 tilstande |
| GMNNgeminin DNA replication inhibitor | Meget ofte (80–99 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 3 tilstande |
| HELLShelicase, lymphoid specific | Meget ofte (80–99 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Meget ofte (80–99 %) | I 2 tilstande |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| IRF6interferon regulatory factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Meget ofte (80–99 %) | I 4 tilstande |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Meget ofte (80–99 %) | I 2 tilstande |
| KIF21Akinesin family member 21A | Meget ofte (80–99 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Meget ofte (80–99 %) | I 3 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| LIFRLIF receptor subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Meget ofte (80–99 %) | I 2 tilstande |
| MYOD1myogenic differentiation 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Meget ofte (80–99 %) | I 1 tilstand |
| NINninein | Meget ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 2 tilstande |
| NOTCH2notch receptor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Meget ofte (80–99 %) | I 2 tilstande |
| NUP85nucleoporin 85 | Meget ofte (80–99 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| P4HBprolyl 4-hydroxylase subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| PCNTpericentrin | Meget ofte (80–99 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Meget ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Meget ofte (80–99 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Meget ofte (80–99 %) | I 2 tilstande |
| PLAG1PLAG1 zinc finger | Meget ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Meget ofte (80–99 %) | I 2 tilstande |
| POLR1BRNA polymerase I subunit B | Meget ofte (80–99 %) | I 2 tilstande |
| POLR1DRNA polymerase I and III subunit D | Meget ofte (80–99 %) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 2 tilstande |
| PUS1pseudouridine synthase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 2 tilstande |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SEC24DSEC24 homolog D, COPII component | Meget ofte (80–99 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SF3B2splicing factor 3b subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SH3PXD2BSH3 and PX domains 2B | Meget ofte (80–99 %) | I 1 tilstand |
| SHOXSHOX homeobox | Meget ofte (80–99 %) | I 2 tilstande |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 2 tilstande |
| SLC10A7solute carrier family 10 member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC18A3solute carrier family 18 member A3 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC26A2solute carrier family 26 member 2 | Meget ofte (80–99 %) | I 5 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 2 tilstande |
| SNAPINSNAP associated protein | Meget ofte (80–99 %) | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Meget ofte (80–99 %) | I 2 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Meget ofte (80–99 %) | I 4 tilstande |
| TGFBR1transforming growth factor beta receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TUBA1Atubulin alpha 1a | Meget ofte (80–99 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Meget ofte (80–99 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Meget ofte (80–99 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Meget ofte (80–99 %) | I 2 tilstande |
| ZBTB24zinc finger and BTB domain containing 24 | Meget ofte (80–99 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCD4ATP binding cassette subfamily D member 4 | Ofte (30–79 %) | I 1 tilstand |
| ADAMTSL2ADAMTS like 2 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Ofte (30–79 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| AFF3ALF transcription elongation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 2 tilstande |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| ANAPC7anaphase promoting complex subunit 7 | Ofte (30–79 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstande |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| BDNFbrain derived neurotrophic factor | Ofte (30–79 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ofte (30–79 %) | I 1 tilstand |
| BLMBLM RecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 2 tilstande |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 3 tilstande |
| COL11A2collagen type XI alpha 2 chain | Ofte (30–79 %) | I 4 tilstande |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 5 tilstande |
| COL3A1collagen type III alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| COL6A1collagen type VI alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A3collagen type VI alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A1collagen type IX alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A2collagen type IX alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CTSKcathepsin K | Ofte (30–79 %) | I 2 tilstande |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DICER1dicer 1, ribonuclease III | Ofte (30–79 %) | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ofte (30–79 %) | I 2 tilstande |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 2 tilstande |
| DSTYKdual serine/threonine and tyrosine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 1 tilstand |
| EDN1endothelin 1 | Ofte (30–79 %) | I 2 tilstande |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 2 tilstande |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 2 tilstande |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 2 tilstande |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FKRPfukutin related protein | Ofte (30–79 %) | I 1 tilstand |
| FKTNfukutin | Ofte (30–79 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Ofte (30–79 %) | I 1 tilstand |
| FOXI3forkhead box I3 | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 3 tilstande |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GINS3GINS complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Ofte (30–79 %) | I 2 tilstande |
| GNB2G protein subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GPC6glypican 6 | Ofte (30–79 %) | I 2 tilstande |
| H4C9H4 clustered histone 9 | 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 |
| HCCSholocytochrome c synthase | Ofte (30–79 %) | I 1 tilstand |
| HDAC9histone deacetylase 9 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Ofte (30–79 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ofte (30–79 %) | I 1 tilstand |
| HOXB1homeobox B1 | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 2 tilstande |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstande |
| IRX5iroquois homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstande |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 2 tilstande |
| LEMD2LEM domain nuclear envelope protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LIG4DNA ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| LOXL3lysyl oxidase like 3 | Ofte (30–79 %) | I 1 tilstand |
| LRP4LDL receptor related protein 4 | Ofte (30–79 %) | I 1 tilstand |
| LRRC32leucine rich repeat containing 32 | Ofte (30–79 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MTX2metaxin 2 | Ofte (30–79 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| NCAPG2non-SMC condensin II complex subunit G2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstande |
| NEK9NIMA related kinase 9 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstande |
| PAX6paired box 6 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PEPDpeptidase D | Ofte (30–79 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 2 tilstande |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 2 tilstande |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 1 tilstand |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ofte (30–79 %) | I 1 tilstand |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Ofte (30–79 %) | I 1 tilstand |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 2 tilstande |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 2 tilstande |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ofte (30–79 %) | I 2 tilstande |
| RAB34RAB34, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 3 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 3 tilstande |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 3 tilstande |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Ofte (30–79 %) | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ofte (30–79 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RPL17ribosomal protein L17 | Ofte (30–79 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Ofte (30–79 %) | I 2 tilstande |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 2 tilstande |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 2 tilstande |
| SLC25A24solute carrier family 25 member 24 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 2 tilstande |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Ofte (30–79 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Ofte (30–79 %) | I 2 tilstande |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 2 tilstande |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 2 tilstande |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 2 tilstande |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TNNI2troponin I2, fast skeletal type | Ofte (30–79 %) | I 2 tilstande |
| TNNT3troponin T3, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstande |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 4 tilstande |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 2 tilstande |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 2 tilstande |
| TXNL4Athioredoxin like 4A | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR26WD repeat domain 26 | Ofte (30–79 %) | I 2 tilstande |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 2 tilstande |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 2 tilstande |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| WNT7AWnt family member 7A | Ofte (30–79 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Ofte (30–79 %) | I 1 tilstand |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Ofte (30–79 %) | I 1 tilstand |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 4 tilstande |
| ACTG2actin gamma 2, smooth muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Nogle gange (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ALPK3alpha kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Nogle gange (5–29 %) | I 2 tilstande |
| ASXL1ASXL transcriptional regulator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 3 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Nogle gange (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCL1clathrin heavy chain like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| COASYCoenzyme A synthase | Nogle gange (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 4 tilstande |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 2 tilstande |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FBN2fibrillin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Nogle gange (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Nogle gange (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Nogle gange (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GPKOWG-patch domain and KOW motifs | Nogle gange (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Nogle gange (5–29 %) | I 2 tilstande |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Nogle gange (5–29 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 4 tilstande |
| LEMD3LEM domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nogle gange (5–29 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 4 tilstande |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| MYBPC1myosin binding protein C1 | Nogle gange (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 3 tilstande |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Nogle gange (5–29 %) | I 2 tilstande |
| NUP133nucleoporin 133 | Nogle gange (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Nogle gange (5–29 %) | I 2 tilstande |
| PAHphenylalanine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAX7paired box 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Nogle gange (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Nogle gange (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 2 tilstande |
| PRIM1DNA primase subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 2 tilstande |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Nogle gange (5–29 %) | I 2 tilstande |
| RBMXRNA binding motif protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 2 tilstande |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Nogle gange (5–29 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 4 tilstande |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 2 tilstande |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Nogle gange (5–29 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Nogle gange (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Nogle gange (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Nogle gange (5–29 %) | I 2 tilstande |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Nogle gange (5–29 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 3 tilstande |
| THOC6THO complex subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Nogle gange (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| TPRKBTP53RK binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Nogle gange (5–29 %) | I 2 tilstande |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Nogle gange (5–29 %) | I 2 tilstande |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Nogle gange (5–29 %) | I 2 tilstande |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Nogle gange (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| AFG2BAAA ATPase AFG2B | Sjældent (1–4%) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sjældent (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjældent (1–4%) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Sjældent (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sjældent (1–4%) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjældent (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjældent (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjældent (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjældent (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjældent (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjældent (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjældent (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjældent (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjældent (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjældent (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjældent (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjældent (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjældent (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjældent (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjældent (1–4%) | I 2 tilstande |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjældent (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registreret | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registreret | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registreret | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 2 tilstande |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registreret | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ikke registreret | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ikke registreret | I 1 tilstand |
| ECEL1endothelin converting enzyme like 1 | Ikke registreret | I 1 tilstand |
| EDNRAendothelin receptor type A | Ikke registreret | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registreret | I 1 tilstand |
| FLCNfolliculin | Ikke registreret | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ikke registreret | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registreret | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registreret | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registreret | I 1 tilstand |
| MYH8myosin heavy chain 8 | Ikke registreret | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ikke registreret | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registreret | I 1 tilstand |
| PRRX1paired related homeobox 1 | Ikke registreret | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registreret | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registreret | I 1 tilstand |
| SSR4signal sequence receptor subunit 4 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registreret | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registreret | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
| ZNF335zinc finger protein 335 | Ikke registreret | I 1 tilstand |
| ZNF341zinc finger protein 341 | 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.
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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.
Én test. Svar for hele livet.
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