Træk
Undescended testes
Klinisk navn: Cryptorchidism
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Resumé
- Også kaldet
- Undescended testis, Cryptorchism
- Kropssystem
- Abnormality of the genitourinary system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Undescended testes 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Altid | I 2 tilstande |
| AFF4ALF transcription elongation factor 4 | Altid | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Altid | I 2 tilstande |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Altid | I 1 tilstand |
| ARandrogen receptor | Altid | I 2 tilstande |
| ARID1AAT-rich interaction domain 1A | Altid | I 2 tilstande |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altid | I 2 tilstande |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altid | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Altid | I 2 tilstande |
| CACHD1cache domain containing 1 | Altid | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Altid | I 1 tilstand |
| CDC6cell division cycle 6 | Altid | I 2 tilstande |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Altid | I 2 tilstande |
| COL3A1collagen type III alpha 1 chain | Altid | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Altid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| DLX4distal-less homeobox 4 | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Altid | I 2 tilstande |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 4 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Altid | I 3 tilstande |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Altid | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Altid | I 2 tilstande |
| FAT4FAT atypical cadherin 4 | Altid | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Altid | I 3 tilstande |
| FKRPfukutin related protein | Altid | I 3 tilstande |
| FKTNfukutin | Altid | I 2 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| FRYLFRY like transcription coactivator | Altid | I 1 tilstand |
| GATA4GATA binding protein 4 | Altid | I 4 tilstande |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GSCgoosecoid homeobox | Altid | I 1 tilstand |
| H4C9H4 clustered histone 9 | Altid | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Altid | I 3 tilstande |
| HYAL2hyaluronidase 2 | Altid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
Vis 751 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| JPH1junctophilin 1 | Altid | I 1 tilstand |
| KAT5lysine acetyltransferase 5 | Altid | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Altid | I 4 tilstande |
| KDM6Alysine demethylase 6A | Altid | I 2 tilstande |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Altid | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 3 tilstande |
| LEF1lymphoid enhancer binding factor 1 | Altid | I 1 tilstand |
| LIG4DNA ligase 4 | Altid | I 2 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Altid | I 2 tilstande |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Altid | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Altid | I 2 tilstande |
| MYMKmyomaker, myoblast fusion factor | Altid | I 1 tilstand |
| MYRFmyelin regulatory factor | Altid | I 1 tilstand |
| NAF1nuclear assembly factor 1 ribonucleoprotein | Altid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Altid | I 2 tilstande |
| NDNFneuron derived neurotrophic factor | Altid | I 2 tilstande |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Altid | I 1 tilstand |
| NOS3nitric oxide synthase 3 | Altid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Altid | I 3 tilstande |
| NUP88nucleoporin 88 | Altid | I 2 tilstande |
| ORC6origin recognition complex subunit 6 | Altid | I 2 tilstande |
| OTX2orthodenticle homeobox 2 | Altid | I 2 tilstande |
| PLVAPplasmalemma vesicle associated protein | Altid | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Altid | I 2 tilstande |
| POLR3KRNA polymerase III subunit K | Altid | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Altid | I 3 tilstande |
| POMT2protein O-mannosyltransferase 2 | Altid | I 4 tilstande |
| PRDM13PR/SET domain 13 | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| PSMC1proteasome 26S subunit, ATPase 1 | Altid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Altid | I 2 tilstande |
| PUM1pumilio RNA binding family member 1 | Altid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 4 tilstande |
| RAPSNreceptor associated protein of the synapse | Altid | I 2 tilstande |
| RNU6ATACRNA, U6atac small nuclear | Altid | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Altid | I 2 tilstande |
| RPL10ribosomal protein L10 | Altid | I 3 tilstande |
| SCYL2SCY1 like pseudokinase 2 | Altid | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Altid | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Altid | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Altid | I 4 tilstande |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altid | I 2 tilstande |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altid | I 2 tilstande |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TASP1taspase 1 | Altid | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Altid | I 2 tilstande |
| TBL1XR1TBL1X/Y related 1 | Altid | I 2 tilstande |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| UQCC2ubiquinol-cytochrome c reductase complex assembly factor 2 | Altid | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Altid | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Altid | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Altid | I 3 tilstande |
| ZMYM3zinc finger MYM-type containing 3 | Altid | I 1 tilstand |
| ALX4ALX homeobox 4 | Meget ofte (80–99 %) | I 1 tilstand |
| AMHanti-Mullerian hormone | Meget ofte (80–99 %) | I 1 tilstand |
| AMHR2anti-Mullerian hormone receptor type 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ANK1ankyrin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Meget ofte (80–99 %) | I 3 tilstande |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ARXaristaless related homeobox | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATRXATRX chromatin remodeler | Meget ofte (80–99 %) | I 3 tilstande |
| B4GALT7beta-1,4-galactosyltransferase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 5 tilstande |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 2 tilstande |
| CDC45cell division cycle 45 | Meget ofte (80–99 %) | I 2 tilstande |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Meget ofte (80–99 %) | I 4 tilstande |
| CDT1chromatin licensing and DNA replication factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Meget ofte (80–99 %) | I 6 tilstande |
| CHRM3cholinergic receptor muscarinic 3 | Meget ofte (80–99 %) | I 2 tilstande |
| CHST14carbohydrate sulfotransferase 14 | Meget ofte (80–99 %) | I 2 tilstande |
| CKAP2Lcytoskeleton associated protein 2L | Meget ofte (80–99 %) | I 2 tilstande |
| CYP11A1cytochrome P450 family 11 subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Meget ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Meget ofte (80–99 %) | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Meget ofte (80–99 %) | I 3 tilstande |
| DVL1dishevelled segment polarity protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Meget ofte (80–99 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| FGF17fibroblast growth factor 17 | Meget ofte (80–99 %) | I 3 tilstande |
| FGF8fibroblast growth factor 8 | Meget ofte (80–99 %) | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 9 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| GATA1GATA binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Meget ofte (80–99 %) | I 2 tilstande |
| GNRH1gonadotropin releasing hormone 1 | Meget ofte (80–99 %) | I 3 tilstande |
| GNRHRgonadotropin releasing hormone receptor | Meget ofte (80–99 %) | I 2 tilstande |
| GPC3glypican 3 | Meget ofte (80–99 %) | I 3 tilstande |
| GPC4glypican 4 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 3 tilstande |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Meget ofte (80–99 %) | I 4 tilstande |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Meget ofte (80–99 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Meget ofte (80–99 %) | I 2 tilstande |
| KISS1KiSS-1 metastasis suppressor | Meget ofte (80–99 %) | I 2 tilstande |
| KISS1RKISS1 receptor | Meget ofte (80–99 %) | I 3 tilstande |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 2 tilstande |
| MAB21L1mab-21 like 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Meget ofte (80–99 %) | I 2 tilstande |
| MAGEL2MAGE family member L2 | Meget ofte (80–99 %) | I 7 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Meget ofte (80–99 %) | I 3 tilstande |
| MECP2methyl-CpG binding protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MEGF8multiple EGF like domains 8 | Meget ofte (80–99 %) | I 2 tilstande |
| MKRN3makorin ring finger protein 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Meget ofte (80–99 %) | I 3 tilstande |
| NHLH2nescient helix-loop-helix 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Meget ofte (80–99 %) | I 2 tilstande |
| OCA2OCA2 melanosomal transmembrane protein | Meget ofte (80–99 %) | I 3 tilstande |
| ORC1origin recognition complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ORC4origin recognition complex subunit 4 | Meget ofte (80–99 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Meget ofte (80–99 %) | I 2 tilstande |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| PROK2prokineticin 2 | Meget ofte (80–99 %) | I 4 tilstande |
| PROKR2prokineticin receptor 2 | Meget ofte (80–99 %) | I 6 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 4 tilstande |
| PWAR1Prader Willi/Angelman region RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Meget ofte (80–99 %) | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Meget ofte (80–99 %) | I 2 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 3 tilstande |
| SEMA3Esemaphorin 3E | Meget ofte (80–99 %) | I 2 tilstande |
| SIM1SIM bHLH transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Meget ofte (80–99 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Meget ofte (80–99 %) | I 3 tilstande |
| SOX9SRY-box transcription factor 9 | Meget ofte (80–99 %) | I 2 tilstande |
| SPRY4sprouty RTK signaling antagonist 4 | Meget ofte (80–99 %) | I 3 tilstande |
| SRD5A2steroid 5 alpha-reductase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SRYsex determining region Y | Meget ofte (80–99 %) | I 3 tilstande |
| TAC3tachykinin precursor 3 | Meget ofte (80–99 %) | I 2 tilstande |
| TACR3tachykinin receptor 3 | Meget ofte (80–99 %) | I 4 tilstande |
| TCF12transcription factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| TSPYL1TSPY like 1 | Meget ofte (80–99 %) | I 2 tilstande |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Meget ofte (80–99 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Meget ofte (80–99 %) | I 5 tilstande |
| ABCD4ATP binding cassette subfamily D member 4 | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Ofte (30–79 %) | I 1 tilstand |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Ofte (30–79 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ANOS1anosmin 1 | Ofte (30–79 %) | I 3 tilstande |
| ARCN1archain 1 coat protein complex I subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 2 tilstande |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| ATN1atrophin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 3 tilstande |
| BDNFbrain derived neurotrophic factor | Ofte (30–79 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| BRF1BRF1 general transcription factor IIIB subunit | Ofte (30–79 %) | I 2 tilstande |
| BRPF1bromodomain and PHD finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Ofte (30–79 %) | I 2 tilstande |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Ofte (30–79 %) | I 1 tilstand |
| CDH2cadherin 2 | Ofte (30–79 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstande |
| CHD4chromodomain helicase DNA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Ofte (30–79 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 1 tilstand |
| CPEcarboxypeptidase E | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 5 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 2 tilstande |
| CYB5Acytochrome b5 type A | Ofte (30–79 %) | I 1 tilstand |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Ofte (30–79 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstande |
| DHX37DEAH-box helicase 37 | Ofte (30–79 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Ofte (30–79 %) | I 3 tilstande |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DOK7docking protein 7 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| 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 2 tilstande |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 3 tilstande |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| EVCEvC ciliary complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| EVC2EvC ciliary complex subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| FANCFFA complementation group F | Ofte (30–79 %) | I 2 tilstande |
| FBLN1fibulin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ofte (30–79 %) | I 4 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 2 tilstande |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FLNBfilamin B | Ofte (30–79 %) | I 4 tilstande |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Ofte (30–79 %) | I 2 tilstande |
| FLT4fms related receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| FXR1FMR1 autosomal homolog 1 | Ofte (30–79 %) | I 2 tilstande |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| GDF1growth differentiation factor 1 | Ofte (30–79 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Ofte (30–79 %) | I 1 tilstand |
| GLDNgliomedin | Ofte (30–79 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| GPC6glypican 6 | Ofte (30–79 %) | I 2 tilstande |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 3 tilstande |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Ofte (30–79 %) | I 1 tilstand |
| HPSE2heparanase 2 (inactive) | Ofte (30–79 %) | I 2 tilstande |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstande |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Ofte (30–79 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 3 tilstande |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Ofte (30–79 %) | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Ofte (30–79 %) | I 1 tilstand |
| IRF6interferon regulatory factor 6 | Ofte (30–79 %) | I 2 tilstande |
| JAG1jagged canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| JAM3junctional adhesion molecule 3 | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 2 tilstande |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KDRkinase insert domain receptor | Ofte (30–79 %) | I 1 tilstand |
| KIF21Akinesin family member 21A | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstande |
| LMNB2lamin B2 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 3 tilstande |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 1 tilstand |
| MAMLD1mastermind like domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 3 tilstande |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 3 tilstande |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 3 tilstande |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MTM1myotubularin 1 | Ofte (30–79 %) | I 2 tilstande |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 3 tilstande |
| MYL11myosin light chain 11 | Ofte (30–79 %) | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 4 tilstande |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Ofte (30–79 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Ofte (30–79 %) | I 1 tilstand |
| NF1neurofibromin 1 | Ofte (30–79 %) | I 2 tilstande |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 2 tilstande |
| NKAPNFKB activating protein | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-6NK2 homeobox 6 | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 2 tilstande |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 3 tilstande |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Ofte (30–79 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 3 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstande |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| ODC1ornithine decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ofte (30–79 %) | I 2 tilstande |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PAX6paired box 6 | Ofte (30–79 %) | I 2 tilstande |
| PAX7paired box 7 | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 3 tilstande |
| PEX1peroxisomal biogenesis factor 1 | 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 |
| PEX14peroxisomal biogenesis factor 14 | 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 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 2 tilstande |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| PHF8PHD finger protein 8 | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Ofte (30–79 %) | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 3 tilstande |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Ofte (30–79 %) | I 1 tilstand |
| PPFIBP1PPFIB scaffold protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 2 tilstande |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Ofte (30–79 %) | I 1 tilstand |
| PRIM1DNA primase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 2 tilstande |
| PRMT7protein arginine methyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTPRFprotein tyrosine phosphatase receptor type F | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Ofte (30–79 %) | I 2 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 4 tilstande |
| RASA2RAS p21 protein activator 2 | Ofte (30–79 %) | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Ofte (30–79 %) | I 2 tilstande |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 2 tilstande |
| RNU4ATACRNA, U4atac small nuclear | Ofte (30–79 %) | I 2 tilstande |
| 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 |
| RRASRAS related | Ofte (30–79 %) | I 1 tilstand |
| RRAS2RAS related 2 | Ofte (30–79 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 3 tilstande |
| SALL1spalt like transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| SAMD9sterile alpha motif domain containing 9 | Ofte (30–79 %) | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Ofte (30–79 %) | I 3 tilstande |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 2 tilstande |
| SIAH1siah E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC18A3solute carrier family 18 member A3 | Ofte (30–79 %) | I 1 tilstand |
| SLC30A7solute carrier family 30 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SLC35D1solute carrier family 35 member D1 | Ofte (30–79 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Ofte (30–79 %) | I 2 tilstande |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 3 tilstande |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 2 tilstande |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 2 tilstande |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Ofte (30–79 %) | I 2 tilstande |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ofte (30–79 %) | I 3 tilstande |
| SOX3SRY-box transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 2 tilstande |
| STAC3SH3 and cysteine rich domain 3 | Ofte (30–79 %) | I 2 tilstande |
| STAG1STAG1 cohesin complex component | Ofte (30–79 %) | I 2 tilstande |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Ofte (30–79 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ofte (30–79 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 3 tilstande |
| TBX3T-box transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TDRD9tudor domain containing 9 | Ofte (30–79 %) | I 1 tilstand |
| TIAM1TIAM Rac1 associated GEF 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 2 tilstande |
| TSHZ3teashirt zinc finger homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Ofte (30–79 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Ofte (30–79 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Ofte (30–79 %) | I 2 tilstande |
| VAMP7vesicle associated membrane protein 7 | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Ofte (30–79 %) | I 2 tilstande |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| WNT7AWnt family member 7A | Ofte (30–79 %) | I 2 tilstande |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 5 tilstande |
| WWOXWW domain containing oxidoreductase | Ofte (30–79 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Ofte (30–79 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Ofte (30–79 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 4 tilstande |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Ofte (30–79 %) | I 2 tilstande |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 2 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Nogle gange (5–29 %) | I 2 tilstande |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 2 tilstande |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Nogle gange (5–29 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Nogle gange (5–29 %) | I 1 tilstand |
| DAZ1deleted in azoospermia 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DAZ2deleted in azoospermia 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DAZ3deleted in azoospermia 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DAZ4deleted in azoospermia 4 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDX3YDEAD-box helicase 3 Y-linked | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR2DiGeorge syndrome critical region gene 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR6DiGeorge syndrome critical region gene 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DGCR8DGCR8 microprocessor complex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DLL3delta like canonical Notch ligand 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM2dynamin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPP9dipeptidyl peptidase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 2 tilstande |
| EBF3EBF transcription factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| ESS2ess-2 spliceosome associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Nogle gange (5–29 %) | I 2 tilstande |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 2 tilstande |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 2 tilstande |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 2 tilstande |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 2 tilstande |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 2 tilstande |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FBN1fibrillin 1 | 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 |
| FBXW7F-box and WD repeat domain containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 2 tilstande |
| FLGfilaggrin | Nogle gange (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FUZfuzzy planar cell polarity protein | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GKglycerol kinase | Nogle gange (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 5 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GPR161G protein-coupled receptor 161 | Nogle gange (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Nogle gange (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Nogle gange (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Nogle gange (5–29 %) | I 2 tilstande |
| HDAC4histone deacetylase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Nogle gange (5–29 %) | I 1 tilstand |
| HOXD13homeobox D13 | Nogle gange (5–29 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nogle gange (5–29 %) | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IGF2insulin like growth factor 2 | Nogle gange (5–29 %) | I 3 tilstande |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Nogle gange (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Nogle gange (5–29 %) | I 2 tilstande |
| KDM3Blysine demethylase 3B | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 3 tilstande |
| KMT2Alysine methyltransferase 2A | Nogle gange (5–29 %) | I 1 tilstand |
| KMT5Blysine methyltransferase 5B | Nogle gange (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LHX1LIM homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBR1limb development membrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD1leiomodin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MBD5methyl-CpG binding domain protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MC2Rmelanocortin 2 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 2 tilstande |
| MESP2mesoderm posterior bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MRAPmelanocortin 2 receptor accessory protein | Nogle gange (5–29 %) | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Nogle gange (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Nogle gange (5–29 %) | I 2 tilstande |
| MYF6myogenic factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MYLKmyosin light chain kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Nogle gange (5–29 %) | I 1 tilstand |
| NNTnicotinamide nucleotide transhydrogenase | Nogle gange (5–29 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Nogle gange (5–29 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Nogle gange (5–29 %) | I 2 tilstande |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PBX1PBX homeobox 1 | Nogle gange (5–29 %) | I 2 tilstande |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Nogle gange (5–29 %) | I 2 tilstande |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nogle gange (5–29 %) | I 3 tilstande |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nogle gange (5–29 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Nogle gange (5–29 %) | I 1 tilstand |
| PLAG1PLAG1 zinc finger | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 2 tilstande |
| POU3F3POU class 3 homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RARBretinoic acid receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Nogle gange (5–29 %) | I 1 tilstand |
| RBMY1A1RNA binding motif protein Y-linked family 1 member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Nogle gange (5–29 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 3 tilstande |
| RESTRE1 silencing transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RTTNrotatin | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 3 tilstande |
| SLC16A2solute carrier family 16 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC19A2solute carrier family 19 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 2 tilstande |
| SMOC1SPARC related modular calcium binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Nogle gange (5–29 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Nogle gange (5–29 %) | I 3 tilstande |
| STARsteroidogenic acute regulatory protein | Nogle gange (5–29 %) | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Nogle gange (5–29 %) | I 2 tilstande |
| STSsteroid sulfatase | Nogle gange (5–29 %) | I 3 tilstande |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| TAF6TATA-box binding protein associated factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Nogle gange (5–29 %) | I 2 tilstande |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX22T-box transcription factor 22 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Nogle gange (5–29 %) | I 2 tilstande |
| TCOF1treacle ribosome biogenesis factor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| THOC2THO complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Nogle gange (5–29 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM28tripartite motif containing 28 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| TSPY1testis specific protein Y-linked 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TXNRD2thioredoxin reductase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Nogle gange (5–29 %) | I 2 tilstande |
| UBE2Aubiquitin conjugating enzyme E2 A | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Yubiquitin specific peptidase 9 Y-linked | Nogle gange (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Nogle gange (5–29 %) | I 1 tilstand |
| VANGL1VANGL planar cell polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| WNT7BWnt family member 7B | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| ZMYM2zinc finger MYM-type containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| ALKALK receptor tyrosine kinase | Sjældent (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjældent (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjældent (1–4%) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sjældent (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjældent (1–4%) | I 1 tilstand |
| SOX5SRY-box transcription factor 5 | Sjældent (1–4%) | I 1 tilstand |
| ACTBactin beta | Ikke registreret | I 1 tilstand |
| AKR1C2aldo-keto reductase family 1 member C2 | Ikke registreret | I 1 tilstand |
| AKR1C4aldo-keto reductase family 1 member C4 | Ikke registreret | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registreret | I 1 tilstand |
| AXLAXL receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| BLMBLM RecQ like helicase | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ikke registreret | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registreret | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registreret | I 1 tilstand |
| CDC42cell division cycle 42 | Ikke registreret | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ikke registreret | I 1 tilstand |
| CEP120centrosomal protein 120 | Ikke registreret | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ikke registreret | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ikke registreret | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registreret | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registreret | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ikke registreret | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ikke registreret | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registreret | I 1 tilstand |
| FLNAfilamin A | Ikke registreret | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ikke registreret | I 2 tilstande |
| INSL3insulin like 3 | Ikke registreret | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registreret | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registreret | I 1 tilstand |
| NOTCH2notch receptor 2 | Ikke registreret | I 1 tilstand |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Ikke registreret | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registreret | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registreret | I 1 tilstand |
| SRA1steroid receptor RNA activator 1 | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ikke registreret | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Ikke registreret | I 1 tilstand |
| TP63tumor protein p63 | Ikke registreret | I 1 tilstand |
| TPM2tropomyosin 2 | Ikke registreret | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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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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