Egenskap
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).
Sammendrag
- Også kalt
- Eye drop, Blepharoptosis, Eyelid ptosis, Palpebral ptosis
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Drooping upper eyelid forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCD3ATP binding cassette subfamily D member 3 | Alltid | I 1 tilstand |
| ACTG1actin gamma 1 | Alltid | I 2 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 4 tilstander |
| AGRNagrin | Alltid | I 1 tilstand |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Alltid | I 2 tilstander |
| CCDC47coiled-coil domain containing 47 | Alltid | I 1 tilstand |
| CDC42cell division cycle 42 | Alltid | I 2 tilstander |
| CHD8chromodomain helicase DNA binding protein 8 | Alltid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Alltid | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Alltid | I 3 tilstander |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Alltid | I 3 tilstander |
| CHRNGcholinergic receptor nicotinic gamma subunit | Alltid | I 2 tilstander |
| COL13A1collagen type XIII alpha 1 chain | Alltid | I 2 tilstander |
| COLEC11collectin subfamily member 11 | Alltid | I 2 tilstander |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 2 tilstander |
| CRELD1CRELD disulfide isomerase 1 | Alltid | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Alltid | I 2 tilstander |
| DSTdystonin | Alltid | I 1 tilstand |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 7 tilstander |
| FILIP1filamin A interacting protein 1 | Alltid | I 1 tilstand |
| FOXL2forkhead box L2 | Alltid | I 2 tilstander |
| GATA3GATA binding protein 3 | Alltid | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Alltid | I 3 tilstander |
| GIPC1GIPC PDZ domain containing family member 1 | Alltid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Alltid | I 1 tilstand |
| GUK1guanylate kinase 1 | Alltid | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Alltid | I 1 tilstand |
| HMGB3high mobility group box 3 | Alltid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Alltid | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Alltid | I 2 tilstander |
| IGF1insulin like growth factor 1 | Alltid | I 2 tilstander |
| INPP5Einositol polyphosphate-5-phosphatase E | Alltid | I 4 tilstander |
| IREB2iron responsive element binding protein 2 | Alltid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Alltid | I 2 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 2 tilstander |
Vis 723 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| JPH1junctophilin 1 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KIF5Akinesin family member 5A | Alltid | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Alltid | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Alltid | I 2 tilstander |
| LRP4LDL receptor related protein 4 | Alltid | I 3 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 4 tilstander |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alltid | I 1 tilstand |
| MARK3microtubule affinity regulating kinase 3 | Alltid | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Alltid | I 2 tilstander |
| MED12mediator complex subunit 12 | Alltid | I 2 tilstander |
| MKS1MKS transition zone complex subunit 1 | Alltid | I 3 tilstander |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Alltid | I 3 tilstander |
| MYH2myosin heavy chain 2 | Alltid | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Alltid | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Alltid | I 1 tilstand |
| NOTCH2NLCnotch 2 N-terminal like C | Alltid | I 1 tilstand |
| NOTCH3notch receptor 3 | Alltid | I 2 tilstander |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Alltid | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Alltid | I 2 tilstander |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alltid | I 1 tilstand |
| PAX7paired box 7 | Alltid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 5 tilstander |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Alltid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 9 tilstander |
| PREPLprolyl endopeptidase like | Alltid | I 2 tilstander |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 1 tilstand |
| PSAPprosaposin | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RILPL1Rab interacting lysosomal protein like 1 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Alltid | I 2 tilstander |
| SC5Dsterol-C5-desaturase | Alltid | I 2 tilstander |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 2 tilstander |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tilstander |
| SLC18A3solute carrier family 18 member A3 | Alltid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Alltid | I 2 tilstander |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Alltid | I 1 tilstand |
| SMSspermine synthase | Alltid | I 1 tilstand |
| SNAP25synaptosome associated protein 25 | Alltid | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Alltid | I 2 tilstander |
| STAC3SH3 and cysteine rich domain 3 | Alltid | I 1 tilstand |
| TAF8TATA-box binding protein associated factor 8 | Alltid | I 1 tilstand |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Alltid | I 1 tilstand |
| TBCBtubulin folding cofactor B | Alltid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tilstand |
| TK2thymidine kinase 2 | Alltid | I 2 tilstander |
| TLK2tousled like kinase 2 | Alltid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Alltid | I 5 tilstander |
| TOP3ADNA topoisomerase III alpha | Alltid | I 2 tilstander |
| TTNtitin | Alltid | I 1 tilstand |
| TYMPthymidine phosphorylase | Alltid | I 2 tilstander |
| VARS2valyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ACKR3atypical chemokine receptor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 2 tilstander |
| ANKRD11ankyrin repeat domain 11 | Svært ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 5 tilstander |
| BRPF1bromodomain and PHD finger containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| COL25A1collagen type XXV alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COLEC10collectin subfamily member 10 | Svært ofte (80–99 %) | I 2 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DNM2dynamin 2 | Svært ofte (80–99 %) | I 2 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| KIF21Akinesin family member 21A | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 5 tilstander |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 3 tilstander |
| LRP12LDL receptor related protein 12 | Svært ofte (80–99 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Svært ofte (80–99 %) | I 3 tilstander |
| MAPK1mitogen-activated protein kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MRASmuscle RAS oncogene homolog | Svært ofte (80–99 %) | I 2 tilstander |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Svært ofte (80–99 %) | I 2 tilstander |
| MYF5myogenic factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Svært ofte (80–99 %) | I 2 tilstander |
| MYMXmyomixer, myoblast fusion factor | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Svært ofte (80–99 %) | I 2 tilstander |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Svært ofte (80–99 %) | I 1 tilstand |
| NF1neurofibromin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| PHOX2Apaired like homeobox 2A | Svært ofte (80–99 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Svært ofte (80–99 %) | I 2 tilstander |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Svært ofte (80–99 %) | I 1 tilstand |
| PLXND1plexin D1 | Svært ofte (80–99 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Svært ofte (80–99 %) | I 2 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 4 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 3 tilstander |
| RASA2RAS p21 protein activator 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Svært ofte (80–99 %) | I 1 tilstand |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RRASRAS related | Svært ofte (80–99 %) | I 1 tilstand |
| RRAS2RAS related 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Svært ofte (80–99 %) | I 4 tilstander |
| RYR1ryanodine receptor 1 | Svært ofte (80–99 %) | I 5 tilstander |
| SETD5SET domain containing 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SIX2SIX homeobox 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| SPRED2sprouty related EVH1 domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Svært ofte (80–99 %) | I 2 tilstander |
| TFAP2Btranscription factor AP-2 beta | Svært ofte (80–99 %) | I 2 tilstander |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Svært ofte (80–99 %) | I 1 tilstand |
| TUBA1Atubulin alpha 1a | Svært ofte (80–99 %) | I 1 tilstand |
| TUBB2Btubulin beta 2B class IIb | Svært ofte (80–99 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Svært ofte (80–99 %) | I 2 tilstander |
| TWNKtwinkle mtDNA helicase | Svært ofte (80–99 %) | I 4 tilstander |
| XPO1exportin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Svært ofte (80–99 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 2 tilstander |
| CCDC28Bcoiled-coil domain containing 28B | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstander |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 4 tilstander |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| CYC1cytochrome c1 | Ofte (30–79 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Ofte (30–79 %) | I 5 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| HPGD15-hydroxyprostaglandin dehydrogenase | Ofte (30–79 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| KIFBPkinesin family binding protein | Ofte (30–79 %) | I 2 tilstander |
| KMT2Dlysine methyltransferase 2D | Ofte (30–79 %) | I 2 tilstander |
| LAMB2laminin subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstander |
| LIG3DNA ligase 3 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 3 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 2 tilstander |
| MED25mediator complex subunit 25 | Ofte (30–79 %) | I 2 tilstander |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 2 tilstander |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| NOGnoggin | Ofte (30–79 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstander |
| ODC1ornithine decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| PAX6paired box 6 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| PHF6PHD finger protein 6 | Ofte (30–79 %) | I 2 tilstander |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 2 tilstander |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 2 tilstander |
| SOSTsclerostin | Ofte (30–79 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| ZBTB20zinc finger and BTB domain containing 20 | Ofte (30–79 %) | I 1 tilstand |
| ZIC1Zic family zinc finger 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| AARS1alanyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 3 tilstander |
| ACTL6Bactin like 6B | Noen ganger (5–29 %) | I 1 tilstand |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ADPRSADP-ribosylserine hydrolase | Noen ganger (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| AHI1Abelson helper integration site 1 | Noen ganger (5–29 %) | I 3 tilstander |
| AIPAHR interacting HSP90 co-chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Noen ganger (5–29 %) | I 2 tilstander |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANOS1anosmin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| ARL13BARF like GTPase 13B | Noen ganger (5–29 %) | I 2 tilstander |
| ARL3ARF like GTPase 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Noen ganger (5–29 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Noen ganger (5–29 %) | I 2 tilstander |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCAS3BCAS3 microtubule associated cell migration factor | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Noen ganger (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CBY1chibby 1, beta catenin antagonist | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDH11cadherin 11 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH23cadherin related 23 | Noen ganger (5–29 %) | I 2 tilstander |
| CDK13cyclin dependent kinase 13 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP104centrosomal protein 104 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP41centrosomal protein 41 | Noen ganger (5–29 %) | I 2 tilstander |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Noen ganger (5–29 %) | I 2 tilstander |
| CHN1chimerin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 2 tilstander |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CSNK2A1casein kinase 2 alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Noen ganger (5–29 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1dynamin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DUSP6dual specificity phosphatase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EDN1endothelin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EDNRBendothelin receptor type B | Noen ganger (5–29 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EMDemerin | Noen ganger (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FBLN5fibulin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL3F-box and leucine rich repeat protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Noen ganger (5–29 %) | I 1 tilstand |
| FDXRferredoxin reductase | Noen ganger (5–29 %) | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| GNAI3G protein subunit alpha i3 | Noen ganger (5–29 %) | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Noen ganger (5–29 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Noen ganger (5–29 %) | I 3 tilstander |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HYAL2hyaluronidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Noen ganger (5–29 %) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Noen ganger (5–29 %) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Noen ganger (5–29 %) | I 2 tilstander |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KITLGKIT ligand | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 3 tilstander |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 1 tilstand |
| MEN1menin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MITFmelanocyte inducing transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH8myosin heavy chain 8 | Noen ganger (5–29 %) | I 2 tilstander |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NAXENAD(P)HX epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 3 tilstander |
| NECAP1NECAP endocytosis associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Noen ganger (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Noen ganger (5–29 %) | I 1 tilstand |
| NOP56NOP56 ribonucleoprotein | Noen ganger (5–29 %) | I 2 tilstander |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPTX1neuronal pentraxin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| PAX3paired box 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Noen ganger (5–29 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Noen ganger (5–29 %) | I 1 tilstand |
| PIBF1progesterone immunomodulatory binding factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Noen ganger (5–29 %) | I 2 tilstander |
| PLXNA1plexin A1 | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRDX3peroxiredoxin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RBM8ARNA binding motif protein 8A | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SECISBP2SECIS binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Asemaphorin 3A | Noen ganger (5–29 %) | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SIAH1siah E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A3solute carrier family 38 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Noen ganger (5–29 %) | I 2 tilstander |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SNAI2snail family transcriptional repressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Noen ganger (5–29 %) | I 2 tilstander |
| SPRY4sprouty RTK signaling antagonist 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Noen ganger (5–29 %) | I 3 tilstander |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNJ1synaptojanin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Noen ganger (5–29 %) | I 2 tilstander |
| TACR3tachykinin receptor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Noen ganger (5–29 %) | I 2 tilstander |
| TGFB2transforming growth factor beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| THAP11THAP domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TMCO1transmembrane and coiled-coil domains 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM218transmembrane protein 218 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Noen ganger (5–29 %) | I 1 tilstand |
| TNPO3transportin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TPM2tropomyosin 2 | Noen ganger (5–29 %) | I 3 tilstander |
| TRAK1trafficking kinesin protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM44TRIM family member 44 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TTRtransthyretin | Noen ganger (5–29 %) | I 1 tilstand |
| TYRtyrosinase | Noen ganger (5–29 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| VMA22vacuolar ATPase assembly factor VMA22 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Noen ganger (5–29 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZC4H2zinc finger C4H2-type containing | Noen ganger (5–29 %) | I 3 tilstander |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 3 tilstander |
| ZMYND11zinc finger MYND-type containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Sjelden (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| FLNAfilamin A | Sjelden (1–4%) | I 2 tilstander |
| FUSFUS RNA binding protein | Sjelden (1–4%) | I 1 tilstand |
| GATA1GATA binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Sjelden (1–4%) | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Sjelden (1–4%) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Sjelden (1–4%) | I 1 tilstand |
| HK1hexokinase 1 | Sjelden (1–4%) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Sjelden (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjelden (1–4%) | I 1 tilstand |
| MYPNmyopalladin | Sjelden (1–4%) | I 1 tilstand |
| RPL11ribosomal protein L11 | Sjelden (1–4%) | I 1 tilstand |
| RPL15ribosomal protein L15 | Sjelden (1–4%) | I 1 tilstand |
| RPL18ribosomal protein L18 | Sjelden (1–4%) | I 1 tilstand |
| RPL26ribosomal protein L26 | Sjelden (1–4%) | I 1 tilstand |
| RPL27ribosomal protein L27 | Sjelden (1–4%) | I 1 tilstand |
| RPL31ribosomal protein L31 | Sjelden (1–4%) | I 1 tilstand |
| RPL35ribosomal protein L35 | Sjelden (1–4%) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Sjelden (1–4%) | I 1 tilstand |
| RPL5ribosomal protein L5 | Sjelden (1–4%) | I 1 tilstand |
| RPL8ribosomal protein L8 | Sjelden (1–4%) | I 1 tilstand |
| RPL9ribosomal protein L9 | Sjelden (1–4%) | I 1 tilstand |
| RPS10ribosomal protein S10 | Sjelden (1–4%) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Sjelden (1–4%) | I 1 tilstand |
| RPS17ribosomal protein S17 | Sjelden (1–4%) | I 1 tilstand |
| RPS19ribosomal protein S19 | Sjelden (1–4%) | I 1 tilstand |
| RPS20ribosomal protein S20 | Sjelden (1–4%) | I 1 tilstand |
| RPS24ribosomal protein S24 | Sjelden (1–4%) | I 1 tilstand |
| RPS26ribosomal protein S26 | Sjelden (1–4%) | I 1 tilstand |
| RPS27ribosomal protein S27 | Sjelden (1–4%) | I 1 tilstand |
| RPS28ribosomal protein S28 | Sjelden (1–4%) | I 1 tilstand |
| RPS29ribosomal protein S29 | Sjelden (1–4%) | I 1 tilstand |
| RPS7ribosomal protein S7 | Sjelden (1–4%) | I 1 tilstand |
| SQSTM1sequestosome 1 | Sjelden (1–4%) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Sjelden (1–4%) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| TCF12transcription factor 12 | Sjelden (1–4%) | I 1 tilstand |
| TPM3tropomyosin 3 | Sjelden (1–4%) | I 2 tilstander |
| TSR2TSR2 ribosome maturation factor | Sjelden (1–4%) | I 1 tilstand |
| VCPvalosin containing protein | Sjelden (1–4%) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| ATXN3ataxin 3 | Ikke registrert | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ikke registrert | I 1 tilstand |
| CHATcholine O-acetyltransferase | Ikke registrert | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 2 tilstander |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Ikke registrert | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Ikke registrert | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registrert | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registrert | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Ikke registrert | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ikke registrert | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registrert | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ikke registrert | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ikke registrert | I 1 tilstand |
| MYO9Amyosin IXA | Ikke registrert | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registrert | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Ikke registrert | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registrert | I 1 tilstand |
| PEPDpeptidase D | Ikke registrert | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registrert | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registrert | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| RALARAS like proto-oncogene A | Ikke registrert | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Ikke registrert | I 1 tilstand |
| RSPRY1ring finger and SPRY domain containing 1 | Ikke registrert | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Ikke registrert | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registrert | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registrert | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registrert | I 2 tilstander |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registrert | I 1 tilstand |
| STAMBPSTAM binding protein | Ikke registrert | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registrert | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Ikke registrert | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Ikke registrert | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registrert | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Ikke registrert | I 1 tilstand |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Ikke registrert | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registrert | I 1 tilstand |
| TP63tumor protein p63 | Ikke registrert | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registrert | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ikke registrert | I 1 tilstand |
| WNK3WNK lysine deficient protein kinase 3 | Ikke registrert | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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