Kenmerk
High palate
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Samenvatting
- Ook bekend als
- Elevated palate, Increased palatal height, High arched palate, High, arched palate, High-arched palate, Palate high-arched, Palate, high-arched
- Lichaamssysteem
- Abnormality of head or neck
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij High palate voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Altijd | In 1 aandoening |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Altijd | In 1 aandoening |
| AMOTL1angiomotin like 1 | Altijd | In 1 aandoening |
| ARL6ARF like GTPase 6 | Altijd | In 2 aandoeningen |
| ASH1LASH1 like histone lysine methyltransferase | Altijd | In 1 aandoening |
| ASPMassembly factor for spindle microtubules | Altijd | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Altijd | In 2 aandoeningen |
| BCORBCL6 corepressor | Altijd | In 1 aandoening |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Altijd | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Altijd | In 1 aandoening |
| CCDC47coiled-coil domain containing 47 | Altijd | In 1 aandoening |
| CDH11cadherin 11 | Altijd | In 2 aandoeningen |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Altijd | In 1 aandoening |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Altijd | In 1 aandoening |
| CHRNDcholinergic receptor nicotinic delta subunit | Altijd | In 2 aandoeningen |
| CHST14carbohydrate sulfotransferase 14 | Altijd | In 2 aandoeningen |
| CIROZciliated left-right organizer protein containing ZP-N domains | Altijd | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Altijd | In 2 aandoeningen |
| COL13A1collagen type XIII alpha 1 chain | Altijd | In 2 aandoeningen |
| COX14cytochrome c oxidase assembly factor COX14 | Altijd | In 1 aandoening |
| COX6A2cytochrome c oxidase subunit 6A2 | Altijd | In 1 aandoening |
| CPT2carnitine palmitoyltransferase 2 | Altijd | In 1 aandoening |
| DDX11DEAD/H-box helicase 11 | Altijd | In 1 aandoening |
| DHRS3dehydrogenase/reductase 3 | Altijd | In 1 aandoening |
| DSEdermatan sulfate epimerase | Altijd | In 2 aandoeningen |
| DSTdystonin | Altijd | In 2 aandoeningen |
| DVL1dishevelled segment polarity protein 1 | Altijd | In 2 aandoeningen |
| EBPEBP cholestenol delta-isomerase | Altijd | In 3 aandoeningen |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Altijd | In 1 aandoening |
| ERI1exoribonuclease 1 | Altijd | In 2 aandoeningen |
| ESAMendothelial cell adhesion molecule | Altijd | In 1 aandoening |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Altijd | In 2 aandoeningen |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altijd | In 1 aandoening |
| FBN1fibrillin 1 | Altijd | In 4 aandoeningen |
| FBXO28F-box protein 28 | Altijd | In 1 aandoening |
| FDXRferredoxin reductase | Altijd | In 1 aandoening |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altijd | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Altijd | In 8 aandoeningen |
| FGFR3fibroblast growth factor receptor 3 | Altijd | In 2 aandoeningen |
| FLNAfilamin A | Altijd | In 2 aandoeningen |
Toon nog 738 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| FLVCR1FLVCR choline and heme transporter 1 | Altijd | In 1 aandoening |
| GNB2G protein subunit beta 2 | Altijd | In 1 aandoening |
| GUK1guanylate kinase 1 | Altijd | In 1 aandoening |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altijd | In 2 aandoeningen |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altijd | In 1 aandoening |
| HOXB1homeobox B1 | Altijd | In 1 aandoening |
| HYOU1hypoxia up-regulated 1 | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| IGBP1immunoglobulin binding protein 1 | Altijd | In 2 aandoeningen |
| IL6STinterleukin 6 cytokine family signal transducer | Altijd | In 2 aandoeningen |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altijd | In 1 aandoening |
| IRX5iroquois homeobox 5 | Altijd | In 1 aandoening |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altijd | In 1 aandoening |
| KLHL7kelch like family member 7 | Altijd | In 1 aandoening |
| KMT2Blysine methyltransferase 2B | Altijd | In 1 aandoening |
| KPTNkaptin, actin binding protein | Altijd | In 2 aandoeningen |
| LGI4leucine rich repeat LGI family member 4 | Altijd | In 1 aandoening |
| LRRC7leucine rich repeat containing 7 | Altijd | In 1 aandoening |
| MAP1Bmicrotubule associated protein 1B | Altijd | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Altijd | In 2 aandoeningen |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altijd | In 1 aandoening |
| MED12mediator complex subunit 12 | Altijd | In 4 aandoeningen |
| MEGF10multiple EGF like domains 10 | Altijd | In 2 aandoeningen |
| MOGSmannosyl-oligosaccharide glucosidase | Altijd | In 2 aandoeningen |
| MRPL12mitochondrial ribosomal protein L12 | Altijd | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 2 aandoeningen |
| MYH2myosin heavy chain 2 | Altijd | In 1 aandoening |
| MYOD1myogenic differentiation 1 | Altijd | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Altijd | In 2 aandoeningen |
| NAV3neuron navigator 3 | Altijd | In 1 aandoening |
| NBNnibrin | Altijd | In 1 aandoening |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Altijd | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Altijd | In 1 aandoening |
| NUP88nucleoporin 88 | Altijd | In 1 aandoening |
| ODC1ornithine decarboxylase 1 | Altijd | In 1 aandoening |
| PAK3p21 (RAC1) activated kinase 3 | Altijd | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Altijd | In 2 aandoeningen |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altijd | In 5 aandoeningen |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Altijd | In 2 aandoeningen |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altijd | In 2 aandoeningen |
| POLR1ARNA polymerase I subunit A | Altijd | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altijd | In 1 aandoening |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Altijd | In 1 aandoening |
| RAPSNreceptor associated protein of the synapse | Altijd | In 2 aandoeningen |
| RECQL4RecQ like helicase 4 | Altijd | In 6 aandoeningen |
| REEP1receptor accessory protein 1 | Altijd | In 1 aandoening |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU5B-1RNA, U5B small nuclear 1 | Altijd | In 1 aandoening |
| RPL17ribosomal protein L17 | Altijd | In 1 aandoening |
| RYR1ryanodine receptor 1 | Altijd | In 4 aandoeningen |
| SCAF4SR-related CTD associated factor 4 | Altijd | In 1 aandoening |
| SCARF2scavenger receptor class F member 2 | Altijd | In 2 aandoeningen |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 4 aandoeningen |
| SEC31ASEC31 homolog A, COPII component | Altijd | In 1 aandoening |
| SHOXSHOX homeobox | Altijd | In 4 aandoeningen |
| SIK3SIK family kinase 3 | Altijd | In 1 aandoening |
| SLC6A17solute carrier family 6 member 17 | Altijd | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Altijd | In 1 aandoening |
| SNIP1Smad nuclear interacting protein 1 | Altijd | In 1 aandoening |
| SP7Sp7 transcription factor | Altijd | In 1 aandoening |
| SPEGstriated muscle enriched protein kinase | Altijd | In 2 aandoeningen |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 1 aandoening |
| STAC3SH3 and cysteine rich domain 3 | Altijd | In 2 aandoeningen |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TBX5T-box transcription factor 5 | Altijd | In 1 aandoening |
| TCP1t-complex 1 | Altijd | In 1 aandoening |
| TIMM50translocase of inner mitochondrial membrane 50 | Altijd | In 1 aandoening |
| TMCO1transmembrane and coiled-coil domains 1 | Altijd | In 1 aandoening |
| TUBA4Atubulin alpha 4a | Altijd | In 1 aandoening |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| UNC13Aunc-13 homolog A | Altijd | In 1 aandoening |
| VPS51VPS51 subunit of GARP complex | Altijd | In 1 aandoening |
| WLSWnt ligand secretion mediator | Altijd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Heel vaak (80–99%) | In 4 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Heel vaak (80–99%) | In 2 aandoeningen |
| BCL11ABCL11 transcription factor A | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 4 aandoeningen |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 1 aandoening |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| CBLCbl proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| CD96CD96 molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| CEP152centrosomal protein 152 | Heel vaak (80–99%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| CREBBPCREB binding lysine acetyltransferase | Heel vaak (80–99%) | In 3 aandoeningen |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Heel vaak (80–99%) | In 3 aandoeningen |
| FBN2fibrillin 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 5 aandoeningen |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| HYMAIhydatidiform mole associated and imprinted | Heel vaak (80–99%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Heel vaak (80–99%) | In 3 aandoeningen |
| KMT2Dlysine methyltransferase 2D | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 5 aandoeningen |
| LZTR1leucine zipper like post translational regulator 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| MRASmuscle RAS oncogene homolog | Heel vaak (80–99%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NOTCH3notch receptor 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Heel vaak (80–99%) | In 2 aandoeningen |
| OFD1OFD1 centriole and centriolar satellite protein | Heel vaak (80–99%) | In 4 aandoeningen |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Heel vaak (80–99%) | In 3 aandoeningen |
| PLAGL1PLAG1 like zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Heel vaak (80–99%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| PUM1pumilio RNA binding family member 1 | Heel vaak (80–99%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB18RAB18, member RAS oncogene family | Heel vaak (80–99%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| RASA2RAS p21 protein activator 2 | Heel vaak (80–99%) | In 1 aandoening |
| RELREL proto-oncogene, NF-kB subunit | Heel vaak (80–99%) | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| RIT1Ras like without CAAX 1 | Heel vaak (80–99%) | In 1 aandoening |
| RRASRAS related | Heel vaak (80–99%) | In 1 aandoening |
| RRAS2RAS related 2 | Heel vaak (80–99%) | In 1 aandoening |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 3 aandoeningen |
| SMC3structural maintenance of chromosomes 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| SPTBN4spectrin beta, non-erythrocytic 4 | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Heel vaak (80–99%) | In 2 aandoeningen |
| XPO1exportin 1 | Heel vaak (80–99%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Heel vaak (80–99%) | In 1 aandoening |
| ZDHHC9zDHHC palmitoyltransferase 9 | Heel vaak (80–99%) | In 1 aandoening |
| ABCD3ATP binding cassette subfamily D member 3 | Vaak (30–79%) | In 1 aandoening |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Vaak (30–79%) | In 5 aandoeningen |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Vaak (30–79%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Vaak (30–79%) | In 1 aandoening |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Vaak (30–79%) | In 3 aandoeningen |
| ANK1ankyrin 1 | Vaak (30–79%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Vaak (30–79%) | In 1 aandoening |
| ANO1anoctamin 1 | Vaak (30–79%) | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Vaak (30–79%) | In 1 aandoening |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Vaak (30–79%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Vaak (30–79%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Vaak (30–79%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Vaak (30–79%) | In 2 aandoeningen |
| ASXL3ASXL transcriptional regulator 3 | Vaak (30–79%) | In 1 aandoening |
| ATP9AATPase phospholipid transporting 9A | Vaak (30–79%) | In 1 aandoening |
| B3GALT6beta-1,3-galactosyltransferase 6 | Vaak (30–79%) | In 2 aandoeningen |
| BBIP1BBSome interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Vaak (30–79%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Vaak (30–79%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Vaak (30–79%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Vaak (30–79%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Vaak (30–79%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 1 aandoening |
| BGNbiglycan | Vaak (30–79%) | In 1 aandoening |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Vaak (30–79%) | In 1 aandoening |
| BIN1bridging integrator 1 | Vaak (30–79%) | In 2 aandoeningen |
| BRPF1bromodomain and PHD finger containing 1 | Vaak (30–79%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 1 aandoening |
| CDK10cyclin dependent kinase 10 | Vaak (30–79%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Vaak (30–79%) | In 1 aandoening |
| CDONcell adhesion associated, oncogene regulated | Vaak (30–79%) | In 4 aandoeningen |
| CEP19centrosomal protein 19 | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Vaak (30–79%) | In 1 aandoening |
| CFL2cofilin 2 | Vaak (30–79%) | In 2 aandoeningen |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 2 aandoeningen |
| COL12A1collagen type XII alpha 1 chain | Vaak (30–79%) | In 1 aandoening |
| COL6A2collagen type VI alpha 2 chain | Vaak (30–79%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| CRIPTOcripto, EGF-CFC family member | Vaak (30–79%) | In 4 aandoeningen |
| CRLF1cytokine receptor like factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| CSNK2A1casein kinase 2 alpha 1 | Vaak (30–79%) | In 1 aandoening |
| CTNND2catenin delta 2 | Vaak (30–79%) | In 1 aandoening |
| CUL4Bcullin 4B | Vaak (30–79%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Vaak (30–79%) | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| DDX59DEAD-box helicase 59 | Vaak (30–79%) | In 1 aandoening |
| DISP1dispatched RND transporter family member 1 | Vaak (30–79%) | In 4 aandoeningen |
| DLG3discs large MAGUK scaffold protein 3 | Vaak (30–79%) | In 1 aandoening |
| DLL1delta like canonical Notch ligand 1 | Vaak (30–79%) | In 4 aandoeningen |
| DMXL2Dmx like 2 | Vaak (30–79%) | In 1 aandoening |
| DOCK3dedicator of cytokinesis 3 | Vaak (30–79%) | In 1 aandoening |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Vaak (30–79%) | In 1 aandoening |
| ECM1extracellular matrix protein 1 | Vaak (30–79%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Vaak (30–79%) | In 1 aandoening |
| EFL1elongation factor like GTPase 1 | Vaak (30–79%) | In 1 aandoening |
| EFNB1ephrin B1 | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Vaak (30–79%) | In 2 aandoeningen |
| EXOSC9exosome component 9 | Vaak (30–79%) | In 1 aandoening |
| FAM149B1family with sequence similarity 149 member B1 | Vaak (30–79%) | In 1 aandoening |
| FGF8fibroblast growth factor 8 | Vaak (30–79%) | In 5 aandoeningen |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FILIP1filamin A interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| FOXH1forkhead box H1 | Vaak (30–79%) | In 4 aandoeningen |
| FRA10AC1FRA10A associated CGG repeat 1 | Vaak (30–79%) | In 1 aandoening |
| FUT8fucosyltransferase 8 | Vaak (30–79%) | In 1 aandoening |
| GAS1growth arrest specific 1 | Vaak (30–79%) | In 4 aandoeningen |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Vaak (30–79%) | In 2 aandoeningen |
| GIPC1GIPC PDZ domain containing family member 1 | Vaak (30–79%) | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Vaak (30–79%) | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Vaak (30–79%) | In 4 aandoeningen |
| GMPPBGDP-mannose pyrophosphorylase B | Vaak (30–79%) | In 1 aandoening |
| GPT2glutamic--pyruvic transaminase 2 | Vaak (30–79%) | In 1 aandoening |
| GSCgoosecoid homeobox | Vaak (30–79%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Vaak (30–79%) | In 1 aandoening |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Vaak (30–79%) | In 1 aandoening |
| HBA1hemoglobin subunit alpha 1 | Vaak (30–79%) | In 1 aandoening |
| HBA2hemoglobin subunit alpha 2 | Vaak (30–79%) | In 1 aandoening |
| HIVEP2HIVEP zinc finger 2 | Vaak (30–79%) | In 1 aandoening |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Vaak (30–79%) | In 1 aandoening |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Vaak (30–79%) | In 1 aandoening |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 2 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| IBA57iron-sulfur cluster assembly factor IBA57 | Vaak (30–79%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Vaak (30–79%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Vaak (30–79%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Vaak (30–79%) | In 1 aandoening |
| IGF2insulin like growth factor 2 | Vaak (30–79%) | In 1 aandoening |
| IL11RAinterleukin 11 receptor subunit alpha | Vaak (30–79%) | In 1 aandoening |
| IPO8importin 8 | Vaak (30–79%) | In 1 aandoening |
| ITGA7integrin subunit alpha 7 | Vaak (30–79%) | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Vaak (30–79%) | In 2 aandoeningen |
| KCNK9potassium two pore domain channel subfamily K member 9 | Vaak (30–79%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Vaak (30–79%) | In 2 aandoeningen |
| KDM5Clysine demethylase 5C | Vaak (30–79%) | In 2 aandoeningen |
| KIAA0753KIAA0753 | Vaak (30–79%) | In 1 aandoening |
| KIF7kinesin family member 7 | Vaak (30–79%) | In 2 aandoeningen |
| KLHL41kelch like family member 41 | Vaak (30–79%) | In 3 aandoeningen |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 2 aandoeningen |
| L1CAML1 cell adhesion molecule | Vaak (30–79%) | In 1 aandoening |
| LAGE3L antigen family member 3 | Vaak (30–79%) | In 1 aandoening |
| LMNAlamin A/C | Vaak (30–79%) | In 3 aandoeningen |
| LMOD3leiomodin 3 | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 2 aandoeningen |
| LTBP1latent transforming growth factor beta binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Vaak (30–79%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Vaak (30–79%) | In 2 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Vaak (30–79%) | In 3 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Vaak (30–79%) | In 2 aandoeningen |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Vaak (30–79%) | In 1 aandoening |
| MAPKAPK5MAPK activated protein kinase 5 | Vaak (30–79%) | In 1 aandoening |
| MESDmesoderm development LRP chaperone | Vaak (30–79%) | In 1 aandoening |
| MFAP5microfibril associated protein 5 | Vaak (30–79%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Vaak (30–79%) | In 2 aandoeningen |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| MN1MN1 proto-oncogene, transcriptional regulator | Vaak (30–79%) | In 1 aandoening |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Vaak (30–79%) | In 2 aandoeningen |
| MYBPC1myosin binding protein C1 | Vaak (30–79%) | In 1 aandoening |
| MYH3myosin heavy chain 3 | Vaak (30–79%) | In 3 aandoeningen |
| MYH7myosin heavy chain 7 | Vaak (30–79%) | In 4 aandoeningen |
| MYL1myosin light chain 1 | Vaak (30–79%) | In 1 aandoening |
| MYL2myosin light chain 2 | Vaak (30–79%) | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Vaak (30–79%) | In 2 aandoeningen |
| MYMXmyomixer, myoblast fusion factor | Vaak (30–79%) | In 1 aandoening |
| MYO18Bmyosin XVIIIB | Vaak (30–79%) | In 1 aandoening |
| MYPNmyopalladin | Vaak (30–79%) | In 3 aandoeningen |
| NALCNsodium leak channel, non-selective | Vaak (30–79%) | In 2 aandoeningen |
| NCDNneurochondrin | Vaak (30–79%) | In 1 aandoening |
| NDC1NDC1 transmembrane nucleoporin | Vaak (30–79%) | In 1 aandoening |
| NEBnebulin | Vaak (30–79%) | In 4 aandoeningen |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NFIXnuclear factor I X | Vaak (30–79%) | In 2 aandoeningen |
| NODALnodal growth differentiation factor | Vaak (30–79%) | In 4 aandoeningen |
| NOTCH2NLCnotch 2 N-terminal like C | Vaak (30–79%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 1 aandoening |
| NSRP1nuclear speckle splicing regulatory protein 1 | Vaak (30–79%) | In 1 aandoening |
| NUP188nucleoporin 188 | Vaak (30–79%) | In 1 aandoening |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Vaak (30–79%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Vaak (30–79%) | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Vaak (30–79%) | In 1 aandoening |
| PAX7paired box 7 | Vaak (30–79%) | In 1 aandoening |
| PCGF2polycomb group ring finger 2 | Vaak (30–79%) | In 1 aandoening |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 1 aandoening |
| PDZD8PDZ domain containing 8 | Vaak (30–79%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| PEX10peroxisomal biogenesis factor 10 | Vaak (30–79%) | In 1 aandoening |
| PEX11Bperoxisomal biogenesis factor 11 beta | Vaak (30–79%) | In 1 aandoening |
| PEX12peroxisomal biogenesis factor 12 | Vaak (30–79%) | In 1 aandoening |
| PEX13peroxisomal biogenesis factor 13 | Vaak (30–79%) | In 1 aandoening |
| PEX14peroxisomal biogenesis factor 14 | Vaak (30–79%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Vaak (30–79%) | In 1 aandoening |
| PEX19peroxisomal biogenesis factor 19 | Vaak (30–79%) | In 1 aandoening |
| PEX2peroxisomal biogenesis factor 2 | Vaak (30–79%) | In 2 aandoeningen |
| PEX3peroxisomal biogenesis factor 3 | Vaak (30–79%) | In 2 aandoeningen |
| PEX5peroxisomal biogenesis factor 5 | Vaak (30–79%) | In 2 aandoeningen |
| PEX6peroxisomal biogenesis factor 6 | Vaak (30–79%) | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Vaak (30–79%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Vaak (30–79%) | In 1 aandoening |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Vaak (30–79%) | In 1 aandoening |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 2 aandoeningen |
| PLCH1phospholipase C eta 1 | Vaak (30–79%) | In 1 aandoening |
| POGZpogo transposable element derived with ZNF domain | Vaak (30–79%) | In 2 aandoeningen |
| POLR2ARNA polymerase II subunit A | Vaak (30–79%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Vaak (30–79%) | In 1 aandoening |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 4 aandoeningen |
| PTENphosphatase and tensin homolog | Vaak (30–79%) | In 3 aandoeningen |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 1 aandoening |
| PURApurine rich element binding protein A | Vaak (30–79%) | In 3 aandoeningen |
| PUS7pseudouridine synthase 7 | Vaak (30–79%) | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Vaak (30–79%) | In 1 aandoening |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Vaak (30–79%) | In 1 aandoening |
| QARS1glutaminyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| QRICH1glutamine rich 1 | Vaak (30–79%) | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Vaak (30–79%) | In 1 aandoening |
| RILPL1Rab interacting lysosomal protein like 1 | Vaak (30–79%) | In 2 aandoeningen |
| RNASEH1ribonuclease H1 | Vaak (30–79%) | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Vaak (30–79%) | In 1 aandoening |
| RPS23ribosomal protein S23 | Vaak (30–79%) | In 1 aandoening |
| RPS6KA3ribosomal protein S6 kinase A3 | Vaak (30–79%) | In 2 aandoeningen |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| RYR3ryanodine receptor 3 | Vaak (30–79%) | In 1 aandoening |
| SATB2SATB homeobox 2 | Vaak (30–79%) | In 4 aandoeningen |
| SC5Dsterol-C5-desaturase | Vaak (30–79%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Vaak (30–79%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Vaak (30–79%) | In 1 aandoening |
| SCNM1sodium channel modifier 1 | Vaak (30–79%) | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Vaak (30–79%) | In 2 aandoeningen |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Vaak (30–79%) | In 1 aandoening |
| SELENONselenoprotein N | Vaak (30–79%) | In 3 aandoeningen |
| SEMA5Asemaphorin 5A | Vaak (30–79%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| SETD5SET domain containing 5 | Vaak (30–79%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Vaak (30–79%) | In 1 aandoening |
| SHHsonic hedgehog signaling molecule | Vaak (30–79%) | In 4 aandoeningen |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Vaak (30–79%) | In 1 aandoening |
| SIAH1siah E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Vaak (30–79%) | In 4 aandoeningen |
| SLC12A6solute carrier family 12 member 6 | Vaak (30–79%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Vaak (30–79%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Vaak (30–79%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| SMAD3SMAD family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Vaak (30–79%) | In 1 aandoening |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Vaak (30–79%) | In 1 aandoening |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Vaak (30–79%) | In 1 aandoening |
| SOX11SRY-box transcription factor 11 | Vaak (30–79%) | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| STAT3signal transducer and activator of transcription 3 | Vaak (30–79%) | In 1 aandoening |
| STILSTIL centriolar assembly protein | Vaak (30–79%) | In 4 aandoeningen |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Vaak (30–79%) | In 2 aandoeningen |
| TBCKTBC1 domain containing kinase | Vaak (30–79%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| TET3tet methylcytosine dioxygenase 3 | Vaak (30–79%) | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Vaak (30–79%) | In 1 aandoening |
| TGFB2transforming growth factor beta 2 | Vaak (30–79%) | In 1 aandoening |
| TGFBR1transforming growth factor beta receptor 1 | Vaak (30–79%) | In 1 aandoening |
| TGIF1TGFB induced factor homeobox 1 | Vaak (30–79%) | In 4 aandoeningen |
| THOC2THO complex subunit 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TNNI2troponin I2, fast skeletal type | Vaak (30–79%) | In 2 aandoeningen |
| TNNT1troponin T1, slow skeletal type | Vaak (30–79%) | In 1 aandoening |
| TNNT3troponin T3, fast skeletal type | Vaak (30–79%) | In 1 aandoening |
| TOE1target of EGR1, exonuclease | Vaak (30–79%) | In 2 aandoeningen |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Vaak (30–79%) | In 1 aandoening |
| TPM2tropomyosin 2 | Vaak (30–79%) | In 6 aandoeningen |
| TPM3tropomyosin 3 | Vaak (30–79%) | In 5 aandoeningen |
| TRIM32tripartite motif containing 32 | Vaak (30–79%) | In 1 aandoening |
| TRIP4thyroid hormone receptor interactor 4 | Vaak (30–79%) | In 3 aandoeningen |
| TRPS1transcriptional repressor GATA binding 1 | Vaak (30–79%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Vaak (30–79%) | In 1 aandoening |
| TTNtitin | Vaak (30–79%) | In 2 aandoeningen |
| TUBBtubulin beta class I | Vaak (30–79%) | In 1 aandoening |
| TWIST1twist family bHLH transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| UBA1ubiquitin like modifier activating enzyme 1 | Vaak (30–79%) | In 1 aandoening |
| WBP4WW domain binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Vaak (30–79%) | In 1 aandoening |
| WDR11WD repeat domain 11 | Vaak (30–79%) | In 1 aandoening |
| WSB2WD repeat and SOCS box containing 2 | Vaak (30–79%) | In 1 aandoening |
| YARS1tyrosyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ZIC2Zic family zinc finger 2 | Vaak (30–79%) | In 5 aandoeningen |
| ZMPSTE24zinc metallopeptidase STE24 | Vaak (30–79%) | In 2 aandoeningen |
| ZNF668zinc finger protein 668 | Vaak (30–79%) | In 1 aandoening |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Vaak (30–79%) | In 1 aandoening |
| AASSaminoadipate-semialdehyde synthase | Soms (5–29%) | In 1 aandoening |
| ACTBactin beta | Soms (5–29%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Soms (5–29%) | In 1 aandoening |
| ADARB1adenosine deaminase RNA specific B1 | Soms (5–29%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Soms (5–29%) | In 1 aandoening |
| ADSS1adenylosuccinate synthase 1 | Soms (5–29%) | In 1 aandoening |
| AFF4ALF transcription elongation factor 4 | Soms (5–29%) | In 1 aandoening |
| AGRNagrin | Soms (5–29%) | In 1 aandoening |
| ALPK3alpha kinase 3 | Soms (5–29%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Soms (5–29%) | In 1 aandoening |
| ANAPC7anaphase promoting complex subunit 7 | Soms (5–29%) | In 1 aandoening |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Soms (5–29%) | In 2 aandoeningen |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Soms (5–29%) | In 1 aandoening |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Soms (5–29%) | In 2 aandoeningen |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Soms (5–29%) | In 2 aandoeningen |
| ARCN1archain 1 coat protein complex I subunit delta | Soms (5–29%) | In 1 aandoening |
| ARMC9armadillo repeat containing 9 | Soms (5–29%) | In 1 aandoening |
| ASPHaspartate beta-hydroxylase | Soms (5–29%) | In 1 aandoening |
| ATG7autophagy related 7 | Soms (5–29%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 2 aandoeningen |
| BAP1BRCA1 associated deubiquitinase 1 | Soms (5–29%) | In 1 aandoening |
| BLNKB cell linker | Soms (5–29%) | In 1 aandoening |
| BMP4bone morphogenetic protein 4 | Soms (5–29%) | In 2 aandoeningen |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CA2carbonic anhydrase 2 | Soms (5–29%) | In 1 aandoening |
| CACHD1cache domain containing 1 | Soms (5–29%) | In 1 aandoening |
| CBScystathionine beta-synthase | Soms (5–29%) | In 2 aandoeningen |
| CD79ACD79a molecule | Soms (5–29%) | In 1 aandoening |
| CD79BCD79b molecule | Soms (5–29%) | In 1 aandoening |
| CDC45cell division cycle 45 | Soms (5–29%) | In 1 aandoening |
| CDH2cadherin 2 | Soms (5–29%) | In 1 aandoening |
| CEP295centrosomal protein 295 | Soms (5–29%) | In 1 aandoening |
| CHD3chromodomain helicase DNA binding protein 3 | Soms (5–29%) | In 1 aandoening |
| CHKAcholine kinase alpha | Soms (5–29%) | In 1 aandoening |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Soms (5–29%) | In 2 aandoeningen |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| CNOT1CCR4-NOT transcription complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Soms (5–29%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL1A2collagen type I alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL5A1collagen type V alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL9A1collagen type IX alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| COL9A2collagen type IX alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COL9A3collagen type IX alpha 3 chain | Soms (5–29%) | In 1 aandoening |
| COLEC11collectin subfamily member 11 | Soms (5–29%) | In 1 aandoening |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Soms (5–29%) | In 1 aandoening |
| CPSF3cleavage and polyadenylation specific factor 3 | Soms (5–29%) | In 1 aandoening |
| CRELD1CRELD disulfide isomerase 1 | Soms (5–29%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Soms (5–29%) | In 1 aandoening |
| CTSKcathepsin K | Soms (5–29%) | In 1 aandoening |
| DDHD2DDHD domain containing 2 | Soms (5–29%) | In 2 aandoeningen |
| DDX3XDEAD-box helicase 3 X-linked | Soms (5–29%) | In 1 aandoening |
| DDX6DEAD-box helicase 6 | Soms (5–29%) | In 1 aandoening |
| DEAF1DEAF1 transcription factor | Soms (5–29%) | In 1 aandoening |
| DHPSdeoxyhypusine synthase | Soms (5–29%) | In 1 aandoening |
| DHX30DExH-box helicase 30 | Soms (5–29%) | In 1 aandoening |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 2 aandoeningen |
| DONSONDNA replication fork stabilization factor DONSON | Soms (5–29%) | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DPH5diphthamide biosynthesis 5 | Soms (5–29%) | In 1 aandoening |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Soms (5–29%) | In 2 aandoeningen |
| DPYDdihydropyrimidine dehydrogenase | Soms (5–29%) | In 1 aandoening |
| EBF3EBF transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Soms (5–29%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Soms (5–29%) | In 3 aandoeningen |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Soms (5–29%) | In 2 aandoeningen |
| EXOC7exocyst complex component 7 | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FBXL3F-box and leucine rich repeat protein 3 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FLNBfilamin B | Soms (5–29%) | In 1 aandoening |
| FN1fibronectin 1 | Soms (5–29%) | In 1 aandoening |
| FRAS1Fraser extracellular matrix complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| FRMPD4FERM and PDZ domain containing 4 | Soms (5–29%) | In 1 aandoening |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Soms (5–29%) | In 1 aandoening |
| GATA1GATA binding protein 1 | Soms (5–29%) | In 1 aandoening |
| GATAD2BGATA zinc finger domain containing 2B | Soms (5–29%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Soms (5–29%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Soms (5–29%) | In 1 aandoening |
| GNB1G protein subunit beta 1 | Soms (5–29%) | In 2 aandoeningen |
| GRIP1glutamate receptor interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| HEATR3HEAT repeat containing 3 | Soms (5–29%) | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Soms (5–29%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| IGHMimmunoglobulin heavy constant mu | Soms (5–29%) | In 1 aandoening |
| IGLL1immunoglobulin lambda like polypeptide 1 | Soms (5–29%) | In 1 aandoening |
| INSRinsulin receptor | Soms (5–29%) | In 2 aandoeningen |
| KBTBD13kelch repeat and BTB domain containing 13 | Soms (5–29%) | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Soms (5–29%) | In 3 aandoeningen |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Soms (5–29%) | In 2 aandoeningen |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Soms (5–29%) | In 1 aandoening |
| KICS2KICSTOR subunit 2 | Soms (5–29%) | In 1 aandoening |
| KIF26Akinesin family member 26A | Soms (5–29%) | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Soms (5–29%) | In 1 aandoening |
| LOXlysyl oxidase | Soms (5–29%) | In 1 aandoening |
| LOXL3lysyl oxidase like 3 | Soms (5–29%) | In 1 aandoening |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Soms (5–29%) | In 2 aandoeningen |
| LTBP2latent transforming growth factor beta binding protein 2 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAMLD1mastermind like domain containing 1 | Soms (5–29%) | In 1 aandoening |
| MAN2C1mannosidase alpha class 2C member 1 | Soms (5–29%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Soms (5–29%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Soms (5–29%) | In 3 aandoeningen |
| MED13Lmediator complex subunit 13L | Soms (5–29%) | In 1 aandoening |
| MED16mediator complex subunit 16 | Soms (5–29%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 2 aandoeningen |
| MEGF8multiple EGF like domains 8 | Soms (5–29%) | In 1 aandoening |
| MID1midline 1 | Soms (5–29%) | In 2 aandoeningen |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Soms (5–29%) | In 1 aandoening |
| MTM1myotubularin 1 | Soms (5–29%) | In 3 aandoeningen |
| MTX2metaxin 2 | Soms (5–29%) | In 1 aandoening |
| MYL11myosin light chain 11 | Soms (5–29%) | In 1 aandoening |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NEFLneurofilament light chain | Soms (5–29%) | In 1 aandoening |
| NEK9NIMA related kinase 9 | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Soms (5–29%) | In 1 aandoening |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Soms (5–29%) | In 1 aandoening |
| NRCAMneuronal cell adhesion molecule | Soms (5–29%) | In 1 aandoening |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PGM3phosphoglucomutase 3 | Soms (5–29%) | In 2 aandoeningen |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Soms (5–29%) | In 1 aandoening |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 1 aandoening |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Soms (5–29%) | In 1 aandoening |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Soms (5–29%) | In 1 aandoening |
| PLXND1plexin D1 | Soms (5–29%) | In 1 aandoening |
| POLR1BRNA polymerase I subunit B | Soms (5–29%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Soms (5–29%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Soms (5–29%) | In 1 aandoening |
| POLRMTRNA polymerase mitochondrial | Soms (5–29%) | In 1 aandoening |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Soms (5–29%) | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Soms (5–29%) | In 1 aandoening |
| PRDM5PR/SET domain 5 | Soms (5–29%) | In 1 aandoening |
| PSAT1phosphoserine aminotransferase 1 | Soms (5–29%) | In 1 aandoening |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Soms (5–29%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RPL11ribosomal protein L11 | Soms (5–29%) | In 1 aandoening |
| RPL15ribosomal protein L15 | Soms (5–29%) | In 1 aandoening |
| RPL18ribosomal protein L18 | Soms (5–29%) | In 1 aandoening |
| RPL26ribosomal protein L26 | Soms (5–29%) | In 1 aandoening |
| RPL27ribosomal protein L27 | Soms (5–29%) | In 1 aandoening |
| RPL31ribosomal protein L31 | Soms (5–29%) | In 1 aandoening |
| RPL35ribosomal protein L35 | Soms (5–29%) | In 1 aandoening |
| RPL35Aribosomal protein L35a | Soms (5–29%) | In 1 aandoening |
| RPL5ribosomal protein L5 | Soms (5–29%) | In 1 aandoening |
| RPL8ribosomal protein L8 | Soms (5–29%) | In 1 aandoening |
| RPL9ribosomal protein L9 | Soms (5–29%) | In 1 aandoening |
| RPS10ribosomal protein S10 | Soms (5–29%) | In 1 aandoening |
| RPS15Aribosomal protein S15a | Soms (5–29%) | In 1 aandoening |
| RPS17ribosomal protein S17 | Soms (5–29%) | In 1 aandoening |
| RPS19ribosomal protein S19 | Soms (5–29%) | In 2 aandoeningen |
| RPS20ribosomal protein S20 | Soms (5–29%) | In 1 aandoening |
| RPS24ribosomal protein S24 | Soms (5–29%) | In 1 aandoening |
| RPS26ribosomal protein S26 | Soms (5–29%) | In 1 aandoening |
| RPS27ribosomal protein S27 | Soms (5–29%) | In 1 aandoening |
| RPS28ribosomal protein S28 | Soms (5–29%) | In 1 aandoening |
| RPS29ribosomal protein S29 | Soms (5–29%) | In 1 aandoening |
| RPS7ribosomal protein S7 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 2 aandoeningen |
| SEC23ASEC23 homolog A, COPII component | Soms (5–29%) | In 2 aandoeningen |
| SETSET nuclear proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SIX1SIX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Soms (5–29%) | In 1 aandoening |
| SLF2SMC5/6 complex localization factor 2 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Soms (5–29%) | In 2 aandoeningen |
| SMSspermine synthase | Soms (5–29%) | In 1 aandoening |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Soms (5–29%) | In 1 aandoening |
| SNX14sorting nexin 14 | Soms (5–29%) | In 2 aandoeningen |
| SOX6SRY-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SPI1Spi-1 proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SPOPspeckle type BTB/POZ protein | Soms (5–29%) | In 1 aandoening |
| SRYsex determining region Y | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Soms (5–29%) | In 1 aandoening |
| TASP1taspase 1 | Soms (5–29%) | In 1 aandoening |
| TBCBtubulin folding cofactor B | Soms (5–29%) | In 1 aandoening |
| TCF3transcription factor 3 | Soms (5–29%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Soms (5–29%) | In 1 aandoening |
| TGDSTDP-glucose 4,6-dehydratase | Soms (5–29%) | In 1 aandoening |
| TGFB3transforming growth factor beta 3 | Soms (5–29%) | In 1 aandoening |
| THSD4thrombospondin type 1 domain containing 4 | Soms (5–29%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 3 aandoeningen |
| TRMUtRNA mitochondrial 2-thiouridylase | Soms (5–29%) | In 1 aandoening |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Soms (5–29%) | In 1 aandoening |
| TSPEARthrombospondin type laminin G domain and EAR repeats | Soms (5–29%) | In 1 aandoening |
| TSR2TSR2 ribosome maturation factor | Soms (5–29%) | In 1 aandoening |
| TTC5tetratricopeptide repeat domain 5 | Soms (5–29%) | In 1 aandoening |
| TUBB3tubulin beta 3 class III | Soms (5–29%) | In 1 aandoening |
| TWIST2twist family bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Soms (5–29%) | In 1 aandoening |
| YY1YY1 transcription factor | Soms (5–29%) | In 2 aandoeningen |
| ZBTB20zinc finger and BTB domain containing 20 | Soms (5–29%) | In 1 aandoening |
| ZFXzinc finger protein X-linked | Soms (5–29%) | In 1 aandoening |
| ZMYM2zinc finger MYM-type containing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF292zinc finger protein 292 | Soms (5–29%) | In 1 aandoening |
| ZNF469zinc finger protein 469 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ZSCAN10zinc finger and SCAN domain containing 10 | Soms (5–29%) | In 1 aandoening |
| AFG2BAAA ATPase AFG2B | Zelden (1–4%) | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Zelden (1–4%) | In 2 aandoeningen |
| CNTNAP2contactin associated protein 2 | Zelden (1–4%) | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Zelden (1–4%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Zelden (1–4%) | In 1 aandoening |
| RCC1regulator of chromosome condensation 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Niet vastgelegd | In 1 aandoening |
| ACTN2actinin alpha 2 | Niet vastgelegd | In 1 aandoening |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Niet vastgelegd | In 1 aandoening |
| ANOS1anosmin 1 | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 2 aandoeningen |
| ATAD1ATPase family AAA domain containing 1 | Niet vastgelegd | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Niet vastgelegd | In 1 aandoening |
| ATRATR checkpoint kinase | Niet vastgelegd | In 1 aandoening |
| ATRXATRX chromatin remodeler | Niet vastgelegd | In 1 aandoening |
| BLTP1bridge-like lipid transfer protein family member 1 | Niet vastgelegd | In 1 aandoening |
| BMP2bone morphogenetic protein 2 | Niet vastgelegd | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Niet vastgelegd | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Niet vastgelegd | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Niet vastgelegd | In 1 aandoening |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Niet vastgelegd | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Niet vastgelegd | In 1 aandoening |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Niet vastgelegd | In 1 aandoening |
| CLTCclathrin heavy chain | Niet vastgelegd | In 1 aandoening |
| CNTN1contactin 1 | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Niet vastgelegd | In 1 aandoening |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Niet vastgelegd | In 1 aandoening |
| COX15cytochrome c oxidase assembly factor COX15 | Niet vastgelegd | In 1 aandoening |
| COX6B1cytochrome c oxidase subunit 6B1 | Niet vastgelegd | In 1 aandoening |
| CTNNB1catenin beta 1 | Niet vastgelegd | In 1 aandoening |
| CTU2cytosolic thiouridylase subunit 2 | Niet vastgelegd | In 1 aandoening |
| DCHS1dachsous cadherin-related 1 | Niet vastgelegd | In 1 aandoening |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Niet vastgelegd | In 1 aandoening |
| EIF4A3eukaryotic translation initiation factor 4A3 | Niet vastgelegd | In 1 aandoening |
| FAM20CFAM20C golgi associated secretory pathway kinase | Niet vastgelegd | In 1 aandoening |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Niet vastgelegd | In 1 aandoening |
| FAT4FAT atypical cadherin 4 | Niet vastgelegd | In 1 aandoening |
| FHfumarate hydratase | Niet vastgelegd | In 1 aandoening |
| FLCNfolliculin | Niet vastgelegd | In 1 aandoening |
| FOXL2forkhead box L2 | Niet vastgelegd | In 1 aandoening |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Niet vastgelegd | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Niet vastgelegd | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Niet vastgelegd | In 1 aandoening |
| GNPATglyceronephosphate O-acyltransferase | Niet vastgelegd | In 1 aandoening |
| HPGD15-hydroxyprostaglandin dehydrogenase | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| HSPA9heat shock protein family A (Hsp70) member 9 | Niet vastgelegd | In 1 aandoening |
| IER3IP1immediate early response 3 interacting protein 1 | Niet vastgelegd | In 1 aandoening |
| IFT122intraflagellar transport 122 | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| LMBRD1LMBR1 domain containing 1 | Niet vastgelegd | In 1 aandoening |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Niet vastgelegd | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Niet vastgelegd | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Niet vastgelegd | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Niet vastgelegd | In 1 aandoening |
| NUP107nucleoporin 107 | Niet vastgelegd | In 2 aandoeningen |
| OBSL1obscurin like cytoskeletal adaptor 1 | Niet vastgelegd | In 1 aandoening |
| OCLNoccludin | Niet vastgelegd | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Niet vastgelegd | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Niet vastgelegd | In 1 aandoening |
| PDHXpyruvate dehydrogenase complex component X | Niet vastgelegd | In 1 aandoening |
| PEPDpeptidase D | Niet vastgelegd | In 1 aandoening |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Niet vastgelegd | In 1 aandoening |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Niet vastgelegd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Niet vastgelegd | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Niet vastgelegd | In 1 aandoening |
| PTPN14protein tyrosine phosphatase non-receptor type 14 | Niet vastgelegd | In 1 aandoening |
| RAB23RAB23, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RAI1retinoic acid induced 1 | Niet vastgelegd | In 1 aandoening |
| RBM10RNA binding motif protein 10 | Niet vastgelegd | In 1 aandoening |
| RETret proto-oncogene | Niet vastgelegd | In 1 aandoening |
| RUNX2RUNX family transcription factor 2 | Niet vastgelegd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Niet vastgelegd | In 1 aandoening |
| SEC24DSEC24 homolog D, COPII component | Niet vastgelegd | In 1 aandoening |
| SH3PXD2BSH3 and PX domains 2B | Niet vastgelegd | In 1 aandoening |
| SLC10A7solute carrier family 10 member 7 | Niet vastgelegd | In 1 aandoening |
| SLC17A5solute carrier family 17 member 5 | Niet vastgelegd | In 1 aandoening |
| SLC39A13solute carrier family 39 member 13 | Niet vastgelegd | In 1 aandoening |
| SONSON DNA and RNA binding protein | Niet vastgelegd | In 1 aandoening |
| SPRED1sprouty related EVH1 domain containing 1 | Niet vastgelegd | In 1 aandoening |
| SURF1SURF1 cytochrome c oxidase assembly factor | Niet vastgelegd | In 1 aandoening |
| TACO1translational activator of cytochrome c oxidase I | Niet vastgelegd | In 1 aandoening |
| TAF6TATA-box binding protein associated factor 6 | Niet vastgelegd | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Niet vastgelegd | In 1 aandoening |
| TBX1T-box transcription factor 1 | Niet vastgelegd | In 1 aandoening |
| TBX4T-box transcription factor 4 | Niet vastgelegd | In 1 aandoening |
| TLK2tousled like kinase 2 | Niet vastgelegd | In 1 aandoening |
| TRIP12thyroid hormone receptor interactor 12 | Niet vastgelegd | In 1 aandoening |
| WDR35WD repeat domain 35 | Niet vastgelegd | In 2 aandoeningen |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Niet vastgelegd | In 1 aandoening |
| WDR73WD repeat domain 73 | Niet vastgelegd | In 1 aandoening |
| WNT5AWnt family member 5A | Niet vastgelegd | In 1 aandoening |
| WNT7AWnt family member 7A | Niet vastgelegd | In 1 aandoening |
| ZBTB24zinc finger and BTB domain containing 24 | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 1 aandoening |
| ZNF341zinc finger protein 341 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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