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Trait
Ventriculomegaly
An increase in size of the ventricular system of the brain.
Summary
- Also called
- Cerebral ventricular dilatation, Dilated cerebral ventricle, Dilated cerebral ventricles, Dilated ventricles, Enlarged cerebral ventricles, Enlarged ventricles, Enlarged ventricular system, Large cerebral ventricles and cisternae, Ventricular dilatation
- Body system
- Abnormality of the nervous system
VentriculomegalyHP:0002119
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Read the genes linked to Ventriculomegaly, and the rest of your genome, with one test.
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Get my Genome Test655 genes linked to Ventriculomegaly
Changes in these genes cause rare conditions in which Ventriculomegaly is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ADGRG1adhesion G protein-coupled receptor G1 | Always | In 2 conditions |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Always | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Always | In 2 conditions |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Always | In 1 condition |
| ATP11AATPase phospholipid transporting 11A | Always | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Always | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Always | In 2 conditions |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Always | In 1 condition |
| BGNbiglycan | Always | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Always | In 2 conditions |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Always | In 1 condition |
| CDC42cell division cycle 42 | Always | In 2 conditions |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| CHD4chromodomain helicase DNA binding protein 4 | Always | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Always | In 2 conditions |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Always | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Always | In 1 condition |
| COPB2coat protein complex I subunit beta 2 | Always | In 2 conditions |
| COX6B1cytochrome c oxidase subunit 6B1 | Always | In 1 condition |
| COX8Acytochrome c oxidase subunit 8A | Always | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Always | In 2 conditions |
| CSF1Rcolony stimulating factor 1 receptor | Always | In 1 condition |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Always | In 1 condition |
| DAG1dystroglycan 1 | Always | In 3 conditions |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Always | In 2 conditions |
| FAAP100FA core complex associated protein 100 | Always | In 2 conditions |
| FANCBFA complementation group B | Always | In 2 conditions |
| FBXO28F-box protein 28 | Always | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Always | In 4 conditions |
| FHfumarate hydratase | Always | In 2 conditions |
| FIG4FIG4 phosphoinositide 5-phosphatase | Always | In 1 condition |
| FKRPfukutin related protein | Always | In 7 conditions |
| FLVCR2FLVCR choline and putative heme transporter 2 | Always | In 1 condition |
| GET4guided entry of tail-anchored proteins factor 4 | Always | In 1 condition |
| GPSM2G protein signaling modulator 2 | Always | In 2 conditions |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
Show 615 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Always | In 1 condition |
| IBA57iron-sulfur cluster assembly factor IBA57 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| INTS11integrator complex subunit 11 | Always | In 1 condition |
| INTUinturned planar cell polarity protein | Always | In 1 condition |
| ISCA1iron-sulfur cluster assembly 1 | Always | In 2 conditions |
| KATNB1katanin regulatory subunit B1 | Always | In 1 condition |
| KIAA0753KIAA0753 | Always | In 2 conditions |
| KIDINS220kinase D interacting substrate 220 | Always | In 2 conditions |
| L1CAML1 cell adhesion molecule | Always | In 3 conditions |
| LIPT1lipoyltransferase 1 | Always | In 1 condition |
| LIPT2lipoyl(octanoyl) transferase 2 | Always | In 1 condition |
| LRRC32leucine rich repeat containing 32 | Always | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Always | In 1 condition |
| MAST1microtubule associated serine/threonine kinase 1 | Always | In 1 condition |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Always | In 2 conditions |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Always | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Always | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Always | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Always | In 3 conditions |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 1 condition |
| NADK2NAD kinase 2, mitochondrial | Always | In 2 conditions |
| NDE1nudE neurodevelopment protein 1 | Always | In 2 conditions |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Always | In 1 condition |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Always | In 1 condition |
| NFIAnuclear factor I A | Always | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 2 conditions |
| NUP188nucleoporin 188 | Always | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Always | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Always | In 2 conditions |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Always | In 1 condition |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Always | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Always | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Always | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Always | In 2 conditions |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Always | In 1 condition |
| PSAPprosaposin | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| RAB11BRAB11B, member RAS oncogene family | Always | In 1 condition |
| RAD21RAD21 cohesin complex component | Always | In 3 conditions |
| RAP1BRAP1B, member of RAS oncogene family | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Always | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Always | In 2 conditions |
| SEC31ASEC31 homolog A, COPII component | Always | In 1 condition |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Always | In 1 condition |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
| SNIP1Smad nuclear interacting protein 1 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SV2Asynaptic vesicle glycoprotein 2A | Always | In 1 condition |
| TBCKTBC1 domain containing kinase | Always | In 2 conditions |
| TBK1TANK binding kinase 1 | Always | In 1 condition |
| TMX2thioredoxin related transmembrane protein 2 | Always | In 1 condition |
| TRAPPC12trafficking protein particle complex subunit 12 | Always | In 2 conditions |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Always | In 1 condition |
| TRIM71tripartite motif containing 71 | Always | In 1 condition |
| TUBA1Atubulin alpha 1a | Always | In 3 conditions |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| ZIC2Zic family zinc finger 2 | Always | In 1 condition |
| AFF3ALF transcription elongation factor 3 | Very often (80–99%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 2 conditions |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Very often (80–99%) | In 2 conditions |
| BUB3BUB3 mitotic checkpoint protein | Very often (80–99%) | In 1 condition |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| CCND2cyclin D2 | Very often (80–99%) | In 1 condition |
| CEP57centrosomal protein 57 | Very often (80–99%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 3 conditions |
| DHCR2424-dehydrocholesterol reductase | Very often (80–99%) | In 2 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Very often (80–99%) | In 1 condition |
| FKTNfukutin | Very often (80–99%) | In 4 conditions |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 4 conditions |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 5 conditions |
| MMP23Bmatrix metallopeptidase 23B | Very often (80–99%) | In 1 condition |
| NDNnecdin, MAGE family member | Very often (80–99%) | In 3 conditions |
| NOTCH2NLCnotch 2 N-terminal like C | Very often (80–99%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Very often (80–99%) | In 3 conditions |
| OPHN1oligophrenin 1 | Very often (80–99%) | In 2 conditions |
| OTUD5OTU deubiquitinase 5 | Very often (80–99%) | In 1 condition |
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 4 conditions |
| POMKprotein O-mannose kinase | Very often (80–99%) | In 2 conditions |
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 5 conditions |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 7 conditions |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 3 conditions |
| RXYLT1ribitol xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| SKISKI proto-oncogene | Very often (80–99%) | In 2 conditions |
| SNAPINSNAP associated protein | Very often (80–99%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Very often (80–99%) | In 3 conditions |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Very often (80–99%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Very often (80–99%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Very often (80–99%) | In 1 condition |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Very often (80–99%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| ZNF335zinc finger protein 335 | Very often (80–99%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| ACTA2actin alpha 2, smooth muscle | Often (30–79%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Often (30–79%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Often (30–79%) | In 2 conditions |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 1 condition |
| AMPD2adenosine monophosphate deaminase 2 | Often (30–79%) | In 1 condition |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 1 condition |
| ANO1anoctamin 1 | Often (30–79%) | In 1 condition |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Often (30–79%) | In 1 condition |
| ARXaristaless related homeobox | Often (30–79%) | In 3 conditions |
| ASPMassembly factor for spindle microtubules | Often (30–79%) | In 2 conditions |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Often (30–79%) | In 1 condition |
| BORCS5BLOC-1 related complex subunit 5 | Often (30–79%) | In 1 condition |
| BRF1BRF1 general transcription factor IIIB subunit | Often (30–79%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Often (30–79%) | In 1 condition |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Often (30–79%) | In 1 condition |
| CDK6cyclin dependent kinase 6 | Often (30–79%) | In 1 condition |
| CENPEcentromere protein E | Often (30–79%) | In 1 condition |
| CEP135centrosomal protein 135 | Often (30–79%) | In 1 condition |
| CEP152centrosomal protein 152 | Often (30–79%) | In 1 condition |
| CITcitron rho-interacting serine/threonine kinase | Often (30–79%) | In 2 conditions |
| COG4component of oligomeric golgi complex 4 | Often (30–79%) | In 1 condition |
| COG8component of oligomeric golgi complex 8 | Often (30–79%) | In 2 conditions |
| COL18A1collagen type XVIII alpha 1 chain | Often (30–79%) | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Often (30–79%) | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Often (30–79%) | In 1 condition |
| CRB2crumbs cell polarity complex component 2 | Often (30–79%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Often (30–79%) | In 1 condition |
| CTCFCCCTC-binding factor | Often (30–79%) | In 2 conditions |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Often (30–79%) | In 3 conditions |
| DENND5ADENN domain containing 5A | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Often (30–79%) | In 1 condition |
| DHX30DExH-box helicase 30 | Often (30–79%) | In 1 condition |
| DHX9DExH-box helicase 9 | Often (30–79%) | In 1 condition |
| DIAPH1diaphanous related formin 1 | Often (30–79%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Often (30–79%) | In 1 condition |
| DMPKDM1 protein kinase | Often (30–79%) | In 1 condition |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 3 conditions |
| EML1EMAP like 1 | Often (30–79%) | In 1 condition |
| EOMESeomesodermin | Often (30–79%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 2 conditions |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Often (30–79%) | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Often (30–79%) | In 3 conditions |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| GLB1galactosidase beta 1 | Often (30–79%) | In 2 conditions |
| GLI3GLI family zinc finger 3 | Often (30–79%) | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Often (30–79%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Often (30–79%) | In 1 condition |
| HDAC4histone deacetylase 4 | Often (30–79%) | In 1 condition |
| HDAC8histone deacetylase 8 | Often (30–79%) | In 2 conditions |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Often (30–79%) | In 2 conditions |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Often (30–79%) | In 1 condition |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Often (30–79%) | In 2 conditions |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Often (30–79%) | In 1 condition |
| IFT43intraflagellar transport 43 | Often (30–79%) | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Often (30–79%) | In 1 condition |
| ITGAVintegrin subunit alpha V | Often (30–79%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Often (30–79%) | In 1 condition |
| KAT8lysine acetyltransferase 8 | Often (30–79%) | In 1 condition |
| KCNK4potassium two pore domain channel subfamily K member 4 | Often (30–79%) | In 1 condition |
| KDM6Alysine demethylase 6A | Often (30–79%) | In 1 condition |
| KIAA0586KIAA0586 | Often (30–79%) | In 2 conditions |
| KIF14kinesin family member 14 | Often (30–79%) | In 1 condition |
| KIF26Akinesin family member 26A | Often (30–79%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Often (30–79%) | In 1 condition |
| KNL1kinetochore scaffold 1 | Often (30–79%) | In 1 condition |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Often (30–79%) | In 2 conditions |
| KPNA3karyopherin subunit alpha 3 | Often (30–79%) | In 1 condition |
| LMNB1lamin B1 | Often (30–79%) | In 1 condition |
| LMNB2lamin B2 | Often (30–79%) | In 2 conditions |
| LONP1lon peptidase 1, mitochondrial | Often (30–79%) | In 2 conditions |
| LSM11LSM11, U7 small nuclear RNA associated | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 1 condition |
| MAN2C1mannosidase alpha class 2C member 1 | Often (30–79%) | In 1 condition |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| MAXMYC associated transcriptional regulator X | Often (30–79%) | In 1 condition |
| MCM7minichromosome maintenance complex component 7 | Often (30–79%) | In 1 condition |
| MCPH1microcephalin 1 | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| MED25mediator complex subunit 25 | Often (30–79%) | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Often (30–79%) | In 2 conditions |
| METTL5methyltransferase 5, N6-adenosine | Often (30–79%) | In 1 condition |
| MID1midline 1 | Often (30–79%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Often (30–79%) | In 1 condition |
| MPDU1mannose-P-dolichol utilization defect 1 | Often (30–79%) | In 2 conditions |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 1 condition |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Often (30–79%) | In 1 condition |
| NAXENAD(P)HX epimerase | Often (30–79%) | In 1 condition |
| NCAPD3non-SMC condensin II complex subunit D3 | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 4 conditions |
| NPAP1nuclear pore associated protein 1 | Often (30–79%) | In 1 condition |
| NUP37nucleoporin 37 | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 2 conditions |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 2 conditions |
| OGDHoxoglutarate dehydrogenase | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Often (30–79%) | In 3 conditions |
| PARNpoly(A)-specific ribonuclease | Often (30–79%) | In 1 condition |
| PCDH19protocadherin 19 | Often (30–79%) | In 1 condition |
| PDCD6IPprogrammed cell death 6 interacting protein | Often (30–79%) | In 1 condition |
| PDE2Aphosphodiesterase 2A | Often (30–79%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Often (30–79%) | In 2 conditions |
| PHACTR1phosphatase and actin regulator 1 | Often (30–79%) | In 1 condition |
| PHC1polyhomeotic homolog 1 | Often (30–79%) | In 1 condition |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Often (30–79%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Often (30–79%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 2 conditions |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Often (30–79%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 3 conditions |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Often (30–79%) | In 2 conditions |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 2 conditions |
| PLCH1phospholipase C eta 1 | Often (30–79%) | In 1 condition |
| PLGplasminogen | Often (30–79%) | In 1 condition |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Often (30–79%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Often (30–79%) | In 2 conditions |
| POLR2ARNA polymerase II subunit A | Often (30–79%) | In 1 condition |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Often (30–79%) | In 2 conditions |
| PRNPprion protein (Kanno blood group) | Often (30–79%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Often (30–79%) | In 1 condition |
| PUS3pseudouridine synthase 3 | Often (30–79%) | In 2 conditions |
| PUS7pseudouridine synthase 7 | Often (30–79%) | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Often (30–79%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Often (30–79%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Often (30–79%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 2 conditions |
| RNASEH2Aribonuclease H2 subunit A | Often (30–79%) | In 2 conditions |
| RNASEH2Bribonuclease H2 subunit B | Often (30–79%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Often (30–79%) | In 1 condition |
| RNF125ring finger protein 125 | Often (30–79%) | In 1 condition |
| RNF213ring finger protein 213 | Often (30–79%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Often (30–79%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Often (30–79%) | In 1 condition |
| RTTNrotatin | Often (30–79%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Often (30–79%) | In 1 condition |
| SARS1seryl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| SASS6SAS-6 centriolar assembly protein | Often (30–79%) | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 1 condition |
| SETBP1SET binding protein 1 | Often (30–79%) | In 2 conditions |
| SHPKsedoheptulokinase | Often (30–79%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Often (30–79%) | In 2 conditions |
| SIN3BSIN3 transcription regulator family member B | Often (30–79%) | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Often (30–79%) | In 1 condition |
| SLC25A19solute carrier family 25 member 19 | Often (30–79%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Often (30–79%) | In 2 conditions |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Often (30–79%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Often (30–79%) | In 1 condition |
| SONSON DNA and RNA binding protein | Often (30–79%) | In 2 conditions |
| STILSTIL centriolar assembly protein | Often (30–79%) | In 1 condition |
| STRADASTE20 related adaptor alpha | Often (30–79%) | In 2 conditions |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 1 condition |
| TAF13TATA-box binding protein associated factor 13 | Often (30–79%) | In 1 condition |
| TCP1t-complex 1 | Often (30–79%) | In 1 condition |
| TERCtelomerase RNA component | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| THOC2THO complex subunit 2 | Often (30–79%) | In 1 condition |
| THOC6THO complex subunit 6 | Often (30–79%) | In 1 condition |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Often (30–79%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Often (30–79%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Often (30–79%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Often (30–79%) | In 1 condition |
| TOE1target of EGR1, exonuclease | Often (30–79%) | In 1 condition |
| TPRKBTP53RK binding protein | Often (30–79%) | In 1 condition |
| TRA2Btransformer 2 beta homolog | Often (30–79%) | In 1 condition |
| TRAIPTRAF interacting protein | Often (30–79%) | In 1 condition |
| TRAPPC10trafficking protein particle complex subunit 10 | Often (30–79%) | In 1 condition |
| TRAPPC14trafficking protein particle complex subunit 14 | Often (30–79%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Often (30–79%) | In 1 condition |
| TSFMTs translation elongation factor, mitochondrial | Often (30–79%) | In 1 condition |
| TUBB2Atubulin beta 2A class IIa | Often (30–79%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Often (30–79%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Often (30–79%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Often (30–79%) | In 2 conditions |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Often (30–79%) | In 2 conditions |
| VPS35LVPS35 endosomal protein sorting factor like | Often (30–79%) | In 1 condition |
| VPS53VPS53 subunit of GARP complex | Often (30–79%) | In 1 condition |
| VSX1visual system homeobox 1 | Often (30–79%) | In 1 condition |
| WARS1tryptophanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| WASF1WASP family member 1 | Often (30–79%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Often (30–79%) | In 1 condition |
| WDR45BWD repeat domain 45B | Often (30–79%) | In 1 condition |
| WDR62WD repeat domain 62 | Often (30–79%) | In 1 condition |
| YARS1tyrosyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ZBTB11zinc finger and BTB domain containing 11 | Often (30–79%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Often (30–79%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Often (30–79%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Often (30–79%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Sometimes (5–29%) | In 1 condition |
| ACP5acid phosphatase 5, tartrate resistant | Sometimes (5–29%) | In 1 condition |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| ACTG1actin gamma 1 | Sometimes (5–29%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 2 conditions |
| AHCYadenosylhomocysteinase | Sometimes (5–29%) | In 1 condition |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Sometimes (5–29%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Sometimes (5–29%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Sometimes (5–29%) | In 1 condition |
| ASXL2ASXL transcriptional regulator 2 | Sometimes (5–29%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 2 conditions |
| BCAP31B cell receptor associated protein 31 | Sometimes (5–29%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Sometimes (5–29%) | In 1 condition |
| BMP2bone morphogenetic protein 2 | Sometimes (5–29%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| BRPF1bromodomain and PHD finger containing 1 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CDK10cyclin dependent kinase 10 | Sometimes (5–29%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Sometimes (5–29%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Sometimes (5–29%) | In 2 conditions |
| CLCN4Cl-/H+ antiporter 4 | Sometimes (5–29%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Sometimes (5–29%) | In 1 condition |
| CTDP1CTD phosphatase 1 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| CTSFcathepsin F | Sometimes (5–29%) | In 1 condition |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Sometimes (5–29%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Sometimes (5–29%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Sometimes (5–29%) | In 2 conditions |
| DOHHdeoxyhypusine hydroxylase | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 1 condition |
| DSEdermatan sulfate epimerase | Sometimes (5–29%) | In 1 condition |
| DSTdystonin | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Sometimes (5–29%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 2 conditions |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FANCAFA complementation group A | Sometimes (5–29%) | In 1 condition |
| FANCCFA complementation group C | Sometimes (5–29%) | In 1 condition |
| FANCD2FA complementation group D2 | Sometimes (5–29%) | In 1 condition |
| FANCEFA complementation group E | Sometimes (5–29%) | In 1 condition |
| FANCFFA complementation group F | Sometimes (5–29%) | In 1 condition |
| FANCGFA complementation group G | Sometimes (5–29%) | In 1 condition |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FANCLFA complementation group L | Sometimes (5–29%) | In 1 condition |
| FANCMFA complementation group M | Sometimes (5–29%) | In 1 condition |
| FAT4FAT atypical cadherin 4 | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 1 condition |
| FBP1fructose-bisphosphatase 1 | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 2 conditions |
| GCDHglutaryl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Sometimes (5–29%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 2 conditions |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| H1-4H1.4 linker histone, cluster member | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| HK1hexokinase 1 | Sometimes (5–29%) | In 1 condition |
| HTThuntingtin | Sometimes (5–29%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KIFBPkinesin family binding protein | Sometimes (5–29%) | In 1 condition |
| KMT2Clysine methyltransferase 2C | Sometimes (5–29%) | In 1 condition |
| KMT5Blysine methyltransferase 5B | Sometimes (5–29%) | In 1 condition |
| KPTNkaptin, actin binding protein | Sometimes (5–29%) | In 1 condition |
| KRT14keratin 14 | Sometimes (5–29%) | In 1 condition |
| KRT5keratin 5 | Sometimes (5–29%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Sometimes (5–29%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Sometimes (5–29%) | In 1 condition |
| MAGmyelin associated glycoprotein | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 2 conditions |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Sometimes (5–29%) | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Sometimes (5–29%) | In 2 conditions |
| MYMXmyomixer, myoblast fusion factor | Sometimes (5–29%) | In 1 condition |
| MYT1Lmyelin transcription factor 1 like | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| NANSN-acetylneuraminate synthase | Sometimes (5–29%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Sometimes (5–29%) | In 1 condition |
| NDST1N-deacetylase and N-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sometimes (5–29%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Sometimes (5–29%) | In 1 condition |
| NFIBnuclear factor I B | Sometimes (5–29%) | In 1 condition |
| NGLY1N-glycanase 1 | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 1 condition |
| PCNTpericentrin | Sometimes (5–29%) | In 1 condition |
| PDHBpyruvate dehydrogenase E1 subunit beta | Sometimes (5–29%) | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | Sometimes (5–29%) | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sometimes (5–29%) | In 1 condition |
| PLPBPpyridoxal phosphate binding protein | Sometimes (5–29%) | In 2 conditions |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| PPFIBP1PPFIB scaffold protein 1 | Sometimes (5–29%) | In 1 condition |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sometimes (5–29%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Sometimes (5–29%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Sometimes (5–29%) | In 1 condition |
| RAD51RAD51 recombinase | Sometimes (5–29%) | In 1 condition |
| RAD51CRAD51 paralog C | Sometimes (5–29%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Sometimes (5–29%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Sometimes (5–29%) | In 2 conditions |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RNASET2ribonuclease T2 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| ROBO1roundabout guidance receptor 1 | Sometimes (5–29%) | In 1 condition |
| RRAS2RAS related 2 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sometimes (5–29%) | In 1 condition |
| SETD5SET domain containing 5 | Sometimes (5–29%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Sometimes (5–29%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sometimes (5–29%) | In 1 condition |
| SHMT2serine hydroxymethyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC39A8solute carrier family 39 member 8 | Sometimes (5–29%) | In 1 condition |
| SLITRK2SLIT and NTRK like family member 2 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 2 conditions |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| STAC3SH3 and cysteine rich domain 3 | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TBC1D2BTBC1 domain family member 2B | Sometimes (5–29%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TBCDtubulin folding cofactor D | Sometimes (5–29%) | In 1 condition |
| TBCEtubulin folding cofactor E | Sometimes (5–29%) | In 2 conditions |
| TBL1XR1TBL1X/Y related 1 | Sometimes (5–29%) | In 1 condition |
| TCF4transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Sometimes (5–29%) | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| TRIM37tripartite motif containing 37 | Sometimes (5–29%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sometimes (5–29%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Sometimes (5–29%) | In 1 condition |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Sometimes (5–29%) | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Sometimes (5–29%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Sometimes (5–29%) | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Sometimes (5–29%) | In 2 conditions |
| TSEN34tRNA splicing endonuclease subunit 34 | Sometimes (5–29%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Sometimes (5–29%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Sometimes (5–29%) | In 1 condition |
| UBTFupstream binding transcription factor | Sometimes (5–29%) | In 1 condition |
| USP18ubiquitin specific peptidase 18 | Sometimes (5–29%) | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 2 conditions |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| WDR26WD repeat domain 26 | Sometimes (5–29%) | In 2 conditions |
| WDR35WD repeat domain 35 | Sometimes (5–29%) | In 1 condition |
| WDR81WD repeat domain 81 | Sometimes (5–29%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Sometimes (5–29%) | In 1 condition |
| XPO1exportin 1 | Sometimes (5–29%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Sometimes (5–29%) | In 1 condition |
| YME1L1YME1 like 1 ATPase | Sometimes (5–29%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Sometimes (5–29%) | In 1 condition |
| YY1YY1 transcription factor | Sometimes (5–29%) | In 1 condition |
| ZNF148zinc finger protein 148 | Sometimes (5–29%) | In 1 condition |
| ZNF292zinc finger protein 292 | Sometimes (5–29%) | In 1 condition |
| ZNF462zinc finger protein 462 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Rarely (1–4%) | In 1 condition |
| BRWD1bromodomain and WD repeat domain containing 1 | Rarely (1–4%) | In 1 condition |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Rarely (1–4%) | In 1 condition |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Rarely (1–4%) | In 1 condition |
| CCNOcyclin O | Rarely (1–4%) | In 1 condition |
| CFAP221cilia and flagella associated protein 221 | Rarely (1–4%) | In 1 condition |
| CFAP298cilia and flagella associated protein 298 | Rarely (1–4%) | In 1 condition |
| CFAP300cilia and flagella associated protein 300 | Rarely (1–4%) | In 1 condition |
| CFAP74cilia and flagella associated protein 74 | Rarely (1–4%) | In 1 condition |
| CLXNcalaxin | Rarely (1–4%) | In 1 condition |
| DAW1dynein assembly factor with WD repeats 1 | Rarely (1–4%) | In 1 condition |
| DNAAF1dynein axonemal assembly factor 1 | Rarely (1–4%) | In 1 condition |
| DNAAF11dynein axonemal assembly factor 11 | Rarely (1–4%) | In 1 condition |
| DNAAF19dynein axonemal assembly factor 19 | Rarely (1–4%) | In 1 condition |
| DNAAF2dynein axonemal assembly factor 2 | Rarely (1–4%) | In 1 condition |
| DNAAF3dynein axonemal assembly factor 3 | Rarely (1–4%) | In 1 condition |
| DNAAF4dynein axonemal assembly factor 4 | Rarely (1–4%) | In 1 condition |
| DNAAF5dynein axonemal assembly factor 5 | Rarely (1–4%) | In 1 condition |
| DNAAF6dynein axonemal assembly factor 6 | Rarely (1–4%) | In 1 condition |
| DNAH1dynein axonemal heavy chain 1 | Rarely (1–4%) | In 1 condition |
| DNAH11dynein axonemal heavy chain 11 | Rarely (1–4%) | In 1 condition |
| DNAH5dynein axonemal heavy chain 5 | Rarely (1–4%) | In 1 condition |
| DNAH7dynein axonemal heavy chain 7 | Rarely (1–4%) | In 1 condition |
| DNAH9dynein axonemal heavy chain 9 | Rarely (1–4%) | In 1 condition |
| DNAI1dynein axonemal intermediate chain 1 | Rarely (1–4%) | In 1 condition |
| DNAI2dynein axonemal intermediate chain 2 | Rarely (1–4%) | In 1 condition |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Rarely (1–4%) | In 1 condition |
| DNAL1dynein axonemal light chain 1 | Rarely (1–4%) | In 1 condition |
| DRC1dynein regulatory complex subunit 1 | Rarely (1–4%) | In 1 condition |
| DRC2dynein regulatory complex subunit 2 | Rarely (1–4%) | In 1 condition |
| DRC4dynein regulatory complex subunit 4 | Rarely (1–4%) | In 1 condition |
| FOXJ1forkhead box J1 | Rarely (1–4%) | In 1 condition |
| FOXP3forkhead box P3 | Rarely (1–4%) | In 1 condition |
| GAS2L2growth arrest specific 2 like 2 | Rarely (1–4%) | In 1 condition |
| HYDINHYDIN axonemal central pair apparatus protein | Rarely (1–4%) | In 1 condition |
| LRRC56leucine rich repeat containing 56 | Rarely (1–4%) | In 1 condition |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Rarely (1–4%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Rarely (1–4%) | In 1 condition |
| NEK10NIMA related kinase 10 | Rarely (1–4%) | In 1 condition |
| NME5NME/NM23 family member 5 | Rarely (1–4%) | In 1 condition |
| NME8NME/NM23 family member 8 | Rarely (1–4%) | In 1 condition |
| ODAD1outer dynein arm docking complex subunit 1 | Rarely (1–4%) | In 1 condition |
| ODAD2outer dynein arm docking complex subunit 2 | Rarely (1–4%) | In 1 condition |
| ODAD3outer dynein arm docking complex subunit 3 | Rarely (1–4%) | In 1 condition |
| ODAD4outer dynein arm docking complex subunit 4 | Rarely (1–4%) | In 1 condition |
| RPGRretinitis pigmentosa GTPase regulator | Rarely (1–4%) | In 1 condition |
| RSPH1radial spoke head component 1 | Rarely (1–4%) | In 1 condition |
| RSPH3radial spoke head 3 | Rarely (1–4%) | In 1 condition |
| RSPH4Aradial spoke head component 4A | Rarely (1–4%) | In 1 condition |
| RSPH9radial spoke head component 9 | Rarely (1–4%) | In 1 condition |
| SPAG1sperm associated antigen 1 | Rarely (1–4%) | In 1 condition |
| SPEF2sperm flagellar and cilia associated 2 | Rarely (1–4%) | In 1 condition |
| STK36serine/threonine kinase 36 | Rarely (1–4%) | In 1 condition |
| TTC12tetratricopeptide repeat domain 12 | Rarely (1–4%) | In 1 condition |
| VPS37AVPS37A subunit of ESCRT-I | Rarely (1–4%) | In 1 condition |
| ZMYND10zinc finger MYND-type containing 10 | Rarely (1–4%) | In 1 condition |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Not recorded | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Not recorded | In 1 condition |
| BICD2BICD cargo adaptor 2 | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| C12orf57chromosome 12 open reading frame 57 | Not recorded | In 1 condition |
| CHD3chromodomain helicase DNA binding protein 3 | Not recorded | In 1 condition |
| COL4A2collagen type IV alpha 2 chain | Not recorded | In 1 condition |
| CPLX1complexin 1 | Not recorded | In 1 condition |
| CTBP1C-terminal binding protein 1 | Not recorded | In 1 condition |
| CUL4Bcullin 4B | Not recorded | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Not recorded | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Not recorded | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Not recorded | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Not recorded | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Not recorded | In 2 conditions |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Not recorded | In 1 condition |
| GNAO1G protein subunit alpha o1 | Not recorded | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Not recorded | In 1 condition |
| HTRA2HtrA serine peptidase 2 | Not recorded | In 1 condition |
| JAM3junctional adhesion molecule 3 | Not recorded | In 1 condition |
| KANK1KN motif and ankyrin repeat domains 1 | Not recorded | In 1 condition |
| KIF7kinesin family member 7 | Not recorded | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Not recorded | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Not recorded | In 1 condition |
| MSL3MSL complex subunit 3 | Not recorded | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Not recorded | In 1 condition |
| OCLNoccludin | Not recorded | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Not recorded | In 1 condition |
| PAX6paired box 6 | Not recorded | In 1 condition |
| QARS1glutaminyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| RAC3Rac family small GTPase 3 | Not recorded | In 1 condition |
| ROGDIrogdi atypical leucine zipper | Not recorded | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Not recorded | In 1 condition |
| SHHsonic hedgehog signaling molecule | Not recorded | In 1 condition |
| SLC25A1solute carrier family 25 member 1 | Not recorded | In 1 condition |
| SLC6A9solute carrier family 6 member 9 | Not recorded | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Not recorded | In 1 condition |
| TMEM107transmembrane protein 107 | Not recorded | In 1 condition |
| TNNI3troponin I3, cardiac type | Not recorded | In 1 condition |
| TNPO2transportin 2 | Not recorded | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Not recorded | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Not recorded | In 1 condition |
| WDR73WD repeat domain 73 | Not recorded | In 1 condition |
| XRCC4X-ray repair cross complementing 4 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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