Egenskap
Little lower jaw
Klinisk navn: Micrognathia
Developmental hypoplasia of the mandible.
Sammendrag
- Også kalt
- 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
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Little lower jaw forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Alltid | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alltid | I 2 tilstander |
| AMMECR1AMMECR nuclear protein 1 | Alltid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ANTXR1ANTXR cell adhesion molecule 1 | Alltid | I 2 tilstander |
| ARCN1archain 1 coat protein complex I subunit delta | Alltid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Alltid | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Alltid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alltid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 3 tilstander |
| BANF1barrier to autointegration nuclear assembly factor 1 | Alltid | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Alltid | I 1 tilstand |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Alltid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CDC6cell division cycle 6 | Alltid | I 2 tilstander |
| CDK5cyclin dependent kinase 5 | Alltid | I 1 tilstand |
| CEP152centrosomal protein 152 | Alltid | I 2 tilstander |
| CEP57centrosomal protein 57 | Alltid | I 2 tilstander |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alltid | I 1 tilstand |
| CNOT2CCR4-NOT transcription complex subunit 2 | Alltid | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Alltid | I 2 tilstander |
| COG7component of oligomeric golgi complex 7 | Alltid | I 2 tilstander |
| COL13A1collagen type XIII alpha 1 chain | Alltid | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Alltid | I 2 tilstander |
| CPEcarboxypeptidase E | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| CTCFCCCTC-binding factor | Alltid | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Alltid | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Alltid | I 2 tilstander |
| DNA2DNA replication helicase/nuclease 2 | Alltid | I 2 tilstander |
| DPH1diphthamide biosynthesis 1 | Alltid | I 2 tilstander |
| EBPEBP cholestenol delta-isomerase | Alltid | I 2 tilstander |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alltid | I 1 tilstand |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alltid | I 1 tilstand |
| EIF4A3eukaryotic translation initiation factor 4A3 | Alltid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alltid | I 2 tilstander |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alltid | I 2 tilstander |
Vis 794 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FBXO28F-box protein 28 | Alltid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 6 tilstander |
| FLNBfilamin B | Alltid | I 4 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Alltid | I 2 tilstander |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Alltid | I 1 tilstand |
| GSCgoosecoid homeobox | Alltid | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Alltid | I 4 tilstander |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Alltid | I 2 tilstander |
| HYOU1hypoxia up-regulated 1 | Alltid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| IGF1insulin like growth factor 1 | Alltid | I 2 tilstander |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Alltid | I 2 tilstander |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 6 tilstander |
| MAD1L1mitotic arrest deficient 1 like 1 | Alltid | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Alltid | I 3 tilstander |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 2 tilstander |
| MCM5minichromosome maintenance complex component 5 | Alltid | I 1 tilstand |
| MED12mediator complex subunit 12 | Alltid | I 5 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Alltid | I 3 tilstander |
| MYMKmyomaker, myoblast fusion factor | Alltid | I 2 tilstander |
| MYMXmyomixer, myoblast fusion factor | Alltid | I 2 tilstander |
| NALCNsodium leak channel, non-selective | Alltid | I 4 tilstander |
| NBNnibrin | Alltid | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Alltid | I 2 tilstander |
| NFASCneurofascin | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 3 tilstander |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Alltid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Alltid | I 3 tilstander |
| NUP107nucleoporin 107 | Alltid | I 3 tilstander |
| NUP88nucleoporin 88 | Alltid | I 2 tilstander |
| NXNnucleoredoxin | Alltid | I 2 tilstander |
| ORC4origin recognition complex subunit 4 | Alltid | I 2 tilstander |
| ORC6origin recognition complex subunit 6 | Alltid | I 2 tilstander |
| PAK2p21 (RAC1) activated kinase 2 | Alltid | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Alltid | I 2 tilstander |
| PEX14peroxisomal biogenesis factor 14 | Alltid | I 2 tilstander |
| PI4KAphosphatidylinositol 4-kinase alpha | Alltid | I 3 tilstander |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 3 tilstander |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alltid | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Alltid | I 3 tilstander |
| PLVAPplasmalemma vesicle associated protein | Alltid | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Alltid | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Alltid | I 2 tilstander |
| POLR3ARNA polymerase III subunit A | Alltid | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alltid | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Alltid | I 2 tilstander |
| PSAT1phosphoserine aminotransferase 1 | Alltid | I 2 tilstander |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 4 tilstander |
| RAC3Rac family small GTPase 3 | Alltid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Alltid | I 2 tilstander |
| RBBP8RB binding protein 8, endonuclease | Alltid | I 2 tilstander |
| RBM10RNA binding motif protein 10 | Alltid | I 2 tilstander |
| RECQL4RecQ like helicase 4 | Alltid | I 3 tilstander |
| RIN2Ras and Rab interactor 2 | Alltid | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Alltid | I 2 tilstander |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Alltid | I 1 tilstand |
| RPS28ribosomal protein S28 | Alltid | I 2 tilstander |
| RYR3ryanodine receptor 3 | Alltid | I 1 tilstand |
| SATB2SATB homeobox 2 | Alltid | I 4 tilstander |
| SC5Dsterol-C5-desaturase | Alltid | I 2 tilstander |
| SCARF2scavenger receptor class F member 2 | Alltid | I 2 tilstander |
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 2 tilstander |
| SEC31ASEC31 homolog A, COPII component | Alltid | I 1 tilstand |
| SERPINH1serpin family H member 1 | Alltid | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Alltid | I 1 tilstand |
| SLC37A4solute carrier family 37 member 4 | Alltid | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Alltid | I 3 tilstander |
| SP7Sp7 transcription factor | Alltid | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alltid | I 1 tilstand |
| SPRTNSprT-like N-terminal domain | Alltid | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Alltid | I 2 tilstander |
| TBCEtubulin folding cofactor E | Alltid | I 2 tilstander |
| TBX5T-box transcription factor 5 | Alltid | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Alltid | I 2 tilstander |
| TCP1t-complex 1 | Alltid | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Alltid | I 2 tilstander |
| THOC2THO complex subunit 2 | Alltid | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Alltid | I 1 tilstand |
| TOMM7translocase of outer mitochondrial membrane 7 | Alltid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TRAIPTRAF interacting protein | Alltid | I 2 tilstander |
| TSR2TSR2 ribosome maturation factor | Alltid | I 2 tilstander |
| UBE3Bubiquitin protein ligase E3B | Alltid | I 2 tilstander |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Alltid | I 2 tilstander |
| VPS35LVPS35 endosomal protein sorting factor like | Alltid | I 2 tilstander |
| VPS53VPS53 subunit of GARP complex | Alltid | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Alltid | I 5 tilstander |
| ACTBactin beta | Svært ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Svært ofte (80–99 %) | I 2 tilstander |
| ALX4ALX homeobox 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ANK1ankyrin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ATRATR checkpoint kinase | Svært ofte (80–99 %) | I 2 tilstander |
| ATRIPATR interacting protein | Svært ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 3 tilstander |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 2 tilstander |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Svært ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Svært ofte (80–99 %) | I 2 tilstander |
| CDC45cell division cycle 45 | Svært ofte (80–99 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Svært ofte (80–99 %) | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Svært ofte (80–99 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CENPEcentromere protein E | Svært ofte (80–99 %) | I 2 tilstander |
| CEP295centrosomal protein 295 | Svært ofte (80–99 %) | I 2 tilstander |
| CEP63centrosomal protein 63 | Svært ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| COG4component of oligomeric golgi complex 4 | Svært ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Svært ofte (80–99 %) | I 3 tilstander |
| CPAPcentrosome assembly and centriole elongation protein | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CREBBPCREB binding lysine acetyltransferase | Svært ofte (80–99 %) | I 3 tilstander |
| CRTAPcartilage associated protein | Svært ofte (80–99 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTDP1CTD phosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Svært ofte (80–99 %) | I 2 tilstander |
| DDX3XDEAD-box helicase 3 X-linked | Svært ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 2 tilstander |
| DHCR77-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 2 tilstander |
| DHODHdihydroorotate dehydrogenase (quinone) | Svært ofte (80–99 %) | I 2 tilstander |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Svært ofte (80–99 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Svært ofte (80–99 %) | I 2 tilstander |
| DOK7docking protein 7 | Svært ofte (80–99 %) | I 2 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Svært ofte (80–99 %) | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Svært ofte (80–99 %) | I 2 tilstander |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| EP300EP300 lysine acetyltransferase | Svært ofte (80–99 %) | I 4 tilstander |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Svært ofte (80–99 %) | I 2 tilstander |
| ERMARDER membrane associated RNA degradation | Svært ofte (80–99 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Svært ofte (80–99 %) | I 2 tilstander |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 3 tilstander |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 3 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Svært ofte (80–99 %) | I 2 tilstander |
| FILIP1filamin A interacting protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| GHRgrowth hormone receptor | Svært ofte (80–99 %) | I 1 tilstand |
| GLDNgliomedin | Svært ofte (80–99 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Svært ofte (80–99 %) | I 3 tilstander |
| GMNNgeminin DNA replication inhibitor | Svært ofte (80–99 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 3 tilstander |
| HELLShelicase, lymphoid specific | Svært ofte (80–99 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Svært ofte (80–99 %) | I 2 tilstander |
| HYMAIhydatidiform mole associated and imprinted | Svært ofte (80–99 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| IRF6interferon regulatory factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Svært ofte (80–99 %) | I 4 tilstander |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Svært ofte (80–99 %) | I 2 tilstander |
| KIF21Akinesin family member 21A | Svært ofte (80–99 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Svært ofte (80–99 %) | I 3 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| LAS1LLAS1 like ribosome biogenesis factor | Svært ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 3 tilstander |
| LIFRLIF receptor subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 1 tilstand |
| MAN2C1mannosidase alpha class 2C member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Svært ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Svært ofte (80–99 %) | I 2 tilstander |
| MYOD1myogenic differentiation 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
| NINninein | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 2 tilstander |
| NOTCH2notch receptor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Svært ofte (80–99 %) | I 2 tilstander |
| NUP85nucleoporin 85 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| P4HBprolyl 4-hydroxylase subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| PCNTpericentrin | Svært ofte (80–99 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Svært ofte (80–99 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Svært ofte (80–99 %) | I 2 tilstander |
| PLAG1PLAG1 zinc finger | Svært ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PLK4polo like kinase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| POLR1BRNA polymerase I subunit B | Svært ofte (80–99 %) | I 2 tilstander |
| POLR1DRNA polymerase I and III subunit D | Svært ofte (80–99 %) | I 2 tilstander |
| PQBP1polyglutamine binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 2 tilstander |
| PUS1pseudouridine synthase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SEC24DSEC24 homolog D, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SF3B2splicing factor 3b subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SH3PXD2BSH3 and PX domains 2B | Svært ofte (80–99 %) | I 1 tilstand |
| SHOXSHOX homeobox | Svært ofte (80–99 %) | I 2 tilstander |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| SLC10A7solute carrier family 10 member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC18A3solute carrier family 18 member A3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 5 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 2 tilstander |
| SNAPINSNAP associated protein | Svært ofte (80–99 %) | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Svært ofte (80–99 %) | I 2 tilstander |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Svært ofte (80–99 %) | I 4 tilstander |
| TGFBR1transforming growth factor beta receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TUBA1Atubulin alpha 1a | Svært ofte (80–99 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Svært ofte (80–99 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Svært ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Svært ofte (80–99 %) | I 2 tilstander |
| ZBTB24zinc finger and BTB domain containing 24 | Svært ofte (80–99 %) | I 1 tilstand |
| ZDHHC9zDHHC palmitoyltransferase 9 | Svært 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 tilstander |
| AFF3ALF transcription elongation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| COL11A2collagen type XI alpha 2 chain | Ofte (30–79 %) | I 4 tilstander |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COL1A1collagen type I alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 5 tilstander |
| COL3A1collagen type III alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 2 tilstander |
| CTSKcathepsin K | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Ofte (30–79 %) | I 2 tilstander |
| DSTYKdual serine/threonine and tyrosine protein kinase | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 3 tilstander |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 2 tilstander |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FANCLFA complementation group L | Ofte (30–79 %) | I 2 tilstander |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| GNB2G protein subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| GPC6glypican 6 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| IPO8importin 8 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 2 tilstander |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| MTX2metaxin 2 | Ofte (30–79 %) | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| PAX6paired box 6 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PEPDpeptidase D | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 2 tilstander |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| RAB34RAB34, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 3 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 3 tilstander |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 2 tilstander |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 2 tilstander |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 2 tilstander |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TNNT3troponin T3, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstander |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 4 tilstander |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 2 tilstander |
| WLSWnt ligand secretion mediator | Ofte (30–79 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 2 tilstander |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 4 tilstander |
| ACTG2actin gamma 2, smooth muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRG1adhesion G protein-coupled receptor G1 | Noen ganger (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ALPK3alpha kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6IP6ARF like GTPase 6 interacting protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Noen ganger (5–29 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 3 tilstander |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BCAP31B cell receptor associated protein 31 | Noen ganger (5–29 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD5chromodomain helicase DNA binding protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CHSY1chondroitin sulfate synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCL1clathrin heavy chain like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| COASYCoenzyme A synthase | Noen ganger (5–29 %) | I 1 tilstand |
| COL25A1collagen type XXV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CRELD1CRELD disulfide isomerase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CSNK2A1casein kinase 2 alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Noen ganger (5–29 %) | I 2 tilstander |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 2 tilstander |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBN2fibrillin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GDF11growth differentiation factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| GNA11G protein subunit alpha 11 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Noen ganger (5–29 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GPKOWG-patch domain and KOW motifs | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC6histone deacetylase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 2 tilstander |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Noen ganger (5–29 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Alysine demethylase 5A | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 4 tilstander |
| LEMD3LEM domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 4 tilstander |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Noen ganger (5–29 %) | I 1 tilstand |
| MYBPC1myosin binding protein C1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 3 tilstander |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Noen ganger (5–29 %) | I 2 tilstander |
| NUP133nucleoporin 133 | Noen ganger (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Noen ganger (5–29 %) | I 2 tilstander |
| PAHphenylalanine hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX7paired box 7 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PLXND1plexin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| PRIM1DNA primase subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 2 tilstander |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Noen ganger (5–29 %) | I 2 tilstander |
| RBMXRNA binding motif protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 2 tilstander |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Noen ganger (5–29 %) | I 2 tilstander |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 4 tilstander |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 2 tilstander |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Noen ganger (5–29 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Noen ganger (5–29 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Noen ganger (5–29 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 2 tilstander |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 3 tilstander |
| THOC6THO complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Noen ganger (5–29 %) | I 1 tilstand |
| TP53RKTP53 regulating kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| TPRKBTP53RK binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Noen ganger (5–29 %) | I 2 tilstander |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 2 tilstander |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Noen ganger (5–29 %) | I 2 tilstander |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjelden (1–4%) | I 1 tilstand |
| AFG2BAAA ATPase AFG2B | Sjelden (1–4%) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Sjelden (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjelden (1–4%) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Sjelden (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sjelden (1–4%) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjelden (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjelden (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjelden (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjelden (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjelden (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjelden (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjelden (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjelden (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjelden (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjelden (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjelden (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjelden (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjelden (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjelden (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjelden (1–4%) | I 2 tilstander |
| RPS20ribosomal protein S20 | Sjelden (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjelden (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjelden (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjelden (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjelden (1–4%) | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| BMPERBMP binding endothelial regulator | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registrert | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 2 tilstander |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registrert | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ikke registrert | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Ikke registrert | I 1 tilstand |
| ECEL1endothelin converting enzyme like 1 | Ikke registrert | I 1 tilstand |
| EDNRAendothelin receptor type A | Ikke registrert | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registrert | I 1 tilstand |
| FLCNfolliculin | Ikke registrert | I 1 tilstand |
| FLVCR2FLVCR choline and putative heme transporter 2 | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registrert | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registrert | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registrert | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Ikke registrert | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ikke registrert | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registrert | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 1 tilstand |
| MMP2matrix metallopeptidase 2 | Ikke registrert | I 1 tilstand |
| MYH8myosin heavy chain 8 | Ikke registrert | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ikke registrert | I 1 tilstand |
| PRRX1paired related homeobox 1 | Ikke registrert | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registrert | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registrert | I 1 tilstand |
| SSR4signal sequence receptor subunit 4 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registrert | I 1 tilstand |
| TENT5Aterminal nucleotidyltransferase 5A | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registrert | I 1 tilstand |
| VPS33BVPS33B late endosome and lysosome associated | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
| ZNF335zinc finger protein 335 | Ikke registrert | I 1 tilstand |
| ZNF341zinc finger protein 341 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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