Træk
Drooping upper eyelid
Klinisk navn: Ptosis
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Resumé
- Også kaldet
- Eye drop, Blepharoptosis, Eyelid ptosis, Palpebral ptosis
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Drooping upper eyelid 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 |
|---|---|---|
| ABCD3ATP binding cassette subfamily D member 3 | Altid | I 1 tilstand |
| ACTG1actin gamma 1 | Altid | I 2 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 4 tilstande |
| AGRNagrin | Altid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Altid | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Altid | I 2 tilstande |
| CCDC47coiled-coil domain containing 47 | Altid | I 1 tilstand |
| CDC42cell division cycle 42 | Altid | I 2 tilstande |
| CHD8chromodomain helicase DNA binding protein 8 | Altid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Altid | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Altid | I 3 tilstande |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Altid | I 3 tilstande |
| CHRNGcholinergic receptor nicotinic gamma subunit | Altid | I 2 tilstande |
| COL13A1collagen type XIII alpha 1 chain | Altid | I 2 tilstande |
| COLEC11collectin subfamily member 11 | Altid | I 2 tilstande |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Altid | I 2 tilstande |
| CRELD1CRELD disulfide isomerase 1 | Altid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Altid | I 2 tilstande |
| DSTdystonin | Altid | I 1 tilstand |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Altid | I 1 tilstand |
| ERI1exoribonuclease 1 | Altid | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Altid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Altid | I 7 tilstande |
| FILIP1filamin A interacting protein 1 | Altid | I 1 tilstand |
| FOXL2forkhead box L2 | Altid | I 2 tilstande |
| GATA3GATA binding protein 3 | Altid | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Altid | I 3 tilstande |
| GIPC1GIPC PDZ domain containing family member 1 | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| GUK1guanylate kinase 1 | Altid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Altid | I 1 tilstand |
| HMGB3high mobility group box 3 | Altid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altid | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Altid | I 2 tilstande |
| IGF1insulin like growth factor 1 | Altid | I 2 tilstande |
| INPP5Einositol polyphosphate-5-phosphatase E | Altid | I 4 tilstande |
| IREB2iron responsive element binding protein 2 | Altid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 2 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 2 tilstande |
Vis 723 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| JPH1junctophilin 1 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KIF5Akinesin family member 5A | Altid | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Altid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Altid | I 2 tilstande |
| LRP4LDL receptor related protein 4 | Altid | I 3 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 4 tilstande |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Altid | I 1 tilstand |
| MARK3microtubule affinity regulating kinase 3 | Altid | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Altid | I 2 tilstande |
| MED12mediator complex subunit 12 | Altid | I 2 tilstande |
| MKS1MKS transition zone complex subunit 1 | Altid | I 3 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Altid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Altid | I 3 tilstande |
| MYH2myosin heavy chain 2 | Altid | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Altid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Altid | I 1 tilstand |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altid | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Altid | I 1 tilstand |
| NOTCH3notch receptor 3 | Altid | I 2 tilstande |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Altid | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PAX7paired box 7 | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 5 tilstande |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Altid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 9 tilstande |
| PREPLprolyl endopeptidase like | Altid | I 2 tilstande |
| PRMT7protein arginine methyltransferase 7 | Altid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Altid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RILPL1Rab interacting lysosomal protein like 1 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Altid | I 2 tilstande |
| SC5Dsterol-C5-desaturase | Altid | I 2 tilstande |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 2 tilstande |
| SLC18A2solute carrier family 18 member A2 | Altid | I 2 tilstande |
| SLC18A3solute carrier family 18 member A3 | Altid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Altid | I 2 tilstande |
| SLC30A9solute carrier family 30 member 9 | Altid | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Altid | I 1 tilstand |
| SMSspermine synthase | Altid | I 1 tilstand |
| SNAP25synaptosome associated protein 25 | Altid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Altid | I 2 tilstande |
| STAC3SH3 and cysteine rich domain 3 | Altid | I 1 tilstand |
| TAF8TATA-box binding protein associated factor 8 | Altid | I 1 tilstand |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Altid | I 1 tilstand |
| TBCBtubulin folding cofactor B | Altid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Altid | I 1 tilstand |
| TK2thymidine kinase 2 | Altid | I 2 tilstande |
| TLK2tousled like kinase 2 | Altid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Altid | I 5 tilstande |
| TOP3ADNA topoisomerase III alpha | Altid | I 2 tilstande |
| TTNtitin | Altid | I 1 tilstand |
| TYMPthymidine phosphorylase | Altid | I 2 tilstande |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ACKR3atypical chemokine receptor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 2 tilstande |
| ANKRD11ankyrin repeat domain 11 | Meget ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 5 tilstande |
| BRPF1bromodomain and PHD finger containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Meget ofte (80–99 %) | I 2 tilstande |
| COL25A1collagen type XXV alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COLEC10collectin subfamily member 10 | Meget ofte (80–99 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DNM2dynamin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| KIF21Akinesin family member 21A | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 5 tilstande |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 3 tilstande |
| LRP12LDL receptor related protein 12 | Meget ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Meget ofte (80–99 %) | I 3 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Meget ofte (80–99 %) | I 2 tilstande |
| MRASmuscle RAS oncogene homolog | Meget ofte (80–99 %) | I 2 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Meget ofte (80–99 %) | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Meget ofte (80–99 %) | I 2 tilstande |
| MYF5myogenic factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Meget ofte (80–99 %) | I 2 tilstande |
| MYMXmyomixer, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Meget ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Meget ofte (80–99 %) | I 2 tilstande |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Meget ofte (80–99 %) | I 1 tilstand |
| NF1neurofibromin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Meget ofte (80–99 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Meget ofte (80–99 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Meget ofte (80–99 %) | I 2 tilstande |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Meget ofte (80–99 %) | I 1 tilstand |
| PLXND1plexin D1 | Meget ofte (80–99 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Meget ofte (80–99 %) | I 2 tilstande |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Meget ofte (80–99 %) | I 4 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 3 tilstande |
| RASA2RAS p21 protein activator 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Meget ofte (80–99 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RRASRAS related | Meget ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Meget ofte (80–99 %) | I 4 tilstande |
| RYR1ryanodine receptor 1 | Meget ofte (80–99 %) | I 5 tilstande |
| SETD5SET domain containing 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SIX2SIX homeobox 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SPRED2sprouty related EVH1 domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Meget ofte (80–99 %) | I 2 tilstande |
| TFAP2Btranscription factor AP-2 beta | Meget ofte (80–99 %) | I 2 tilstande |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Meget ofte (80–99 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Meget ofte (80–99 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Meget ofte (80–99 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Meget ofte (80–99 %) | I 2 tilstande |
| TWNKtwinkle mtDNA helicase | Meget ofte (80–99 %) | I 4 tilstande |
| XPO1exportin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Meget ofte (80–99 %) | I 2 tilstande |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX1ALX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstande |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ANO10anoctamin 10 | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | 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 |
| ARL6ARF like GTPase 6 | Ofte (30–79 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Ofte (30–79 %) | I 2 tilstande |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 3 tilstande |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ofte (30–79 %) | I 1 tilstand |
| BDNFbrain derived neurotrophic factor | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 2 tilstande |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| C1QBPcomplement C1q binding protein | Ofte (30–79 %) | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 2 tilstande |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 2 tilstande |
| CCDC28Bcoiled-coil domain containing 28B | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 3 tilstande |
| CNTNAP1contactin associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Ofte (30–79 %) | I 1 tilstand |
| COL1A2collagen type I alpha 2 chain | Ofte (30–79 %) | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Ofte (30–79 %) | I 2 tilstande |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstande |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 4 tilstande |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| CYC1cytochrome c1 | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 2 tilstande |
| DGUOKdeoxyguanosine kinase | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| 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 |
| ECEL1endothelin converting enzyme like 1 | Ofte (30–79 %) | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 2 tilstande |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 5 tilstande |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Ofte (30–79 %) | I 2 tilstande |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 1 tilstand |
| GFERgrowth factor, augmenter of liver regeneration | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GPRASP2G protein-coupled receptor associated sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GRM1glutamate metabotropic receptor 1 | Ofte (30–79 %) | I 2 tilstande |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| H4C3H4 clustered histone 3 | Ofte (30–79 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ofte (30–79 %) | I 2 tilstande |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ofte (30–79 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| IPO8importin 8 | Ofte (30–79 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 2 tilstande |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ofte (30–79 %) | I 2 tilstande |
| KIFBPkinesin family binding protein | Ofte (30–79 %) | I 2 tilstande |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstande |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstande |
| LIG3DNA ligase 3 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 3 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 2 tilstande |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstande |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| MID1midline 1 | Ofte (30–79 %) | I 1 tilstand |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 2 tilstande |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Ofte (30–79 %) | I 2 tilstande |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 2 tilstande |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 2 tilstande |
| MTSS2MTSS I-BAR domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MYF6myogenic factor 6 | Ofte (30–79 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 5 tilstande |
| NALCNsodium leak channel, non-selective | Ofte (30–79 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Ofte (30–79 %) | I 1 tilstand |
| NEUROG1neurogenin 1 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 2 tilstande |
| NOGnoggin | Ofte (30–79 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstande |
| ODC1ornithine decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PAX6paired box 6 | Ofte (30–79 %) | I 3 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Ofte (30–79 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 1 tilstand |
| 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 1 tilstand |
| 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 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ofte (30–79 %) | I 2 tilstande |
| PHF6PHD finger protein 6 | Ofte (30–79 %) | I 2 tilstande |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 2 tilstande |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PLECplectin | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofte (30–79 %) | I 1 tilstand |
| QRICH1glutamine rich 1 | Ofte (30–79 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 4 tilstande |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 3 tilstande |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Ofte (30–79 %) | I 1 tilstand |
| SEPHS1selenophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SF3B4splicing factor 3b subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 2 tilstande |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC19A3solute carrier family 19 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Ofte (30–79 %) | I 2 tilstande |
| SMAD4SMAD family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 2 tilstande |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstande |
| 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 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 2 tilstande |
| SOSTsclerostin | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 2 tilstande |
| 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 |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TEFMtranscription elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 2 tilstande |
| TMEM138transmembrane protein 138 | 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 4 tilstande |
| TMLHEtrimethyllysine hydroxylase, epsilon | Ofte (30–79 %) | I 1 tilstand |
| TOR1Atorsin family 1 member A | Ofte (30–79 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TUBA4Atubulin alpha 4a | Ofte (30–79 %) | I 1 tilstand |
| TUBB6tubulin beta 6 class V | Ofte (30–79 %) | I 1 tilstand |
| TWIST1twist family bHLH transcription factor 1 | Ofte (30–79 %) | I 2 tilstande |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Ofte (30–79 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Ofte (30–79 %) | I 1 tilstand |
| WT1WT1 transcription factor | Ofte (30–79 %) | I 2 tilstande |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Ofte (30–79 %) | I 2 tilstande |
| ZNF423zinc finger protein 423 | Ofte (30–79 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | 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 |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 3 tilstande |
| ACTL6Bactin like 6B | Nogle gange (5–29 %) | I 1 tilstand |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Nogle gange (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Nogle gange (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Nogle gange (5–29 %) | I 3 tilstande |
| AIPAHR interacting HSP90 co-chaperone | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| ARL13BARF like GTPase 13B | Nogle gange (5–29 %) | I 2 tilstande |
| ARL3ARF like GTPase 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Nogle gange (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Nogle gange (5–29 %) | I 2 tilstande |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDH11cadherin 11 | Nogle gange (5–29 %) | I 1 tilstand |
| CDH23cadherin related 23 | Nogle gange (5–29 %) | I 2 tilstande |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Nogle gange (5–29 %) | I 2 tilstande |
| CEP41centrosomal protein 41 | Nogle gange (5–29 %) | I 2 tilstande |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Nogle gange (5–29 %) | I 2 tilstande |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Nogle gange (5–29 %) | I 2 tilstande |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Nogle gange (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EDN1endothelin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EDNRBendothelin receptor type B | Nogle gange (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| EMDemerin | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FAAP100FA core complex associated protein 100 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Nogle gange (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Nogle gange (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Nogle gange (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Nogle gange (5–29 %) | I 1 tilstand |
| FDXRferredoxin reductase | Nogle gange (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Nogle gange (5–29 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nogle gange (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Nogle gange (5–29 %) | I 3 tilstande |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Nogle gange (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Nogle gange (5–29 %) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Nogle gange (5–29 %) | I 2 tilstande |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KITLGKIT ligand | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 3 tilstande |
| KMT2Alysine methyltransferase 2A | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| LSM11LSM11, U7 small nuclear RNA associated | Nogle gange (5–29 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MITFmelanocyte inducing transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MYH8myosin heavy chain 8 | Nogle gange (5–29 %) | I 2 tilstande |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Nogle gange (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 3 tilstande |
| NECAP1NECAP endocytosis associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Nogle gange (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Nogle gange (5–29 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Nogle gange (5–29 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NPTX1neuronal pentraxin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Nogle gange (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Nogle gange (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| PAX3paired box 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Nogle gange (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Nogle gange (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Nogle gange (5–29 %) | I 2 tilstande |
| PLXNA1plexin A1 | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRDX3peroxiredoxin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Nogle gange (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SECISBP2SECIS binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Nogle gange (5–29 %) | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Nogle gange (5–29 %) | I 2 tilstande |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SNAI2snail family transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Nogle gange (5–29 %) | I 2 tilstande |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 3 tilstande |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Nogle gange (5–29 %) | I 2 tilstande |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Nogle gange (5–29 %) | I 2 tilstande |
| TGFB2transforming growth factor beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Nogle gange (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TPM2tropomyosin 2 | Nogle gange (5–29 %) | I 3 tilstande |
| TRAK1trafficking kinesin protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM44TRIM family member 44 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Nogle gange (5–29 %) | I 1 tilstand |
| TYRtyrosinase | Nogle gange (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Nogle gange (5–29 %) | I 2 tilstande |
| VMA22vacuolar ATPase assembly factor VMA22 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Nogle gange (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Nogle gange (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Nogle gange (5–29 %) | I 2 tilstande |
| ZC4H2zinc finger C4H2-type containing | Nogle gange (5–29 %) | I 3 tilstande |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ZMYND11zinc finger MYND-type containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjældent (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjældent (1–4%) | I 1 tilstand |
| FLNAfilamin A | Sjældent (1–4%) | I 2 tilstande |
| FUSFUS RNA binding protein | Sjældent (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Sjældent (1–4%) | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Sjældent (1–4%) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Sjældent (1–4%) | I 1 tilstand |
| HK1hexokinase 1 | Sjældent (1–4%) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Sjældent (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjældent (1–4%) | I 1 tilstand |
| MYPNmyopalladin | Sjældent (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjældent (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjældent (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjældent (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjældent (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjældent (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjældent (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjældent (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjældent (1–4%) | I 1 tilstand |
| RPL5ribosomal protein L5 | Sjældent (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjældent (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjældent (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjældent (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjældent (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjældent (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjældent (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjældent (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjældent (1–4%) | I 1 tilstand |
| RPS26ribosomal protein S26 | Sjældent (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjældent (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjældent (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjældent (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjældent (1–4%) | I 1 tilstand |
| SQSTM1sequestosome 1 | Sjældent (1–4%) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Sjældent (1–4%) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| TCF12transcription factor 12 | Sjældent (1–4%) | I 1 tilstand |
| TPM3tropomyosin 3 | Sjældent (1–4%) | I 2 tilstande |
| TSR2TSR2 ribosome maturation factor | Sjældent (1–4%) | I 1 tilstand |
| VCPvalosin containing protein | Sjældent (1–4%) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| ATXN3ataxin 3 | Ikke registreret | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registreret | I 1 tilstand |
| CHATcholine O-acetyltransferase | Ikke registreret | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Ikke registreret | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registreret | I 2 tilstande |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registreret | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registreret | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registreret | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registreret | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registreret | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ikke registreret | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registreret | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ikke registreret | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ikke registreret | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ikke registreret | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registreret | I 1 tilstand |
| PEPDpeptidase D | Ikke registreret | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registreret | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registreret | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registreret | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ikke registreret | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Ikke registreret | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registreret | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registreret | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registreret | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registreret | I 2 tilstande |
| SLC6A9solute carrier family 6 member 9 | Ikke registreret | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registreret | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registreret | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registreret | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ikke registreret | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registreret | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registreret | I 1 tilstand |
| TP63tumor protein p63 | Ikke registreret | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registreret | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ikke registreret | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registreret | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | 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.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger