Trait
Clouding of the lens of the eye
Clinical name: Cataract
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Summary
- Also called
- Cloudy lens, Cataracts, Lens opacities, Lens opacity
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test653 genes linked to Clouding of the lens of the eye
Changes in these genes cause rare conditions in which Clouding of the lens of the eye 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 |
|---|---|---|
| AGKacylglycerol kinase | Always | In 2 conditions |
| AMACRalpha-methylacyl-CoA racemase | Always | In 2 conditions |
| ARL2ARF like GTPase 2 | Always | In 1 condition |
| ATP11AATPase phospholipid transporting 11A | Always | In 1 condition |
| BBIP1BBSome interacting protein 1 | Always | In 2 conditions |
| BCKDKbranched chain keto acid dehydrogenase kinase | Always | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Always | In 2 conditions |
| COL11A1collagen type XI alpha 1 chain | Always | In 4 conditions |
| COL9A1collagen type IX alpha 1 chain | Always | In 2 conditions |
| COPB1coat protein complex I subunit beta 1 | Always | In 1 condition |
| CPAMD8C3 and PZP like alpha-2-macroglobulin domain containing 8 | Always | In 1 condition |
| CRYBA2crystallin beta A2 | Always | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Always | In 1 condition |
| DNMBPdynamin binding protein | Always | In 1 condition |
| EEDembryonic ectoderm development | Always | In 1 condition |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Always | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Always | In 5 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Always | In 3 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Always | In 3 conditions |
| FAR1fatty acyl-CoA reductase 1 | Always | In 2 conditions |
| FLNAfilamin A | Always | In 2 conditions |
| FOXE3forkhead box E3 | Always | In 1 condition |
| GEMIN4gem nuclear organelle associated protein 4 | Always | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Always | In 1 condition |
| GSRglutathione-disulfide reductase | Always | In 1 condition |
| HMX1H6 family homeobox 1 | Always | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Always | In 3 conditions |
| INPP5Kinositol polyphosphate-5-phosphatase K | Always | In 1 condition |
| INTS1integrator complex subunit 1 | Always | In 1 condition |
| JAM3junctional adhesion molecule 3 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Always | In 3 conditions |
| LIM2lens intrinsic membrane protein 2 | Always | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Always | In 2 conditions |
| LOXL3lysyl oxidase like 3 | Always | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Always | In 1 condition |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Always | In 2 conditions |
| MRPS28mitochondrial ribosomal protein S28 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| MVKmevalonate kinase | Always | In 2 conditions |
Show 613 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MYMKmyomaker, myoblast fusion factor | Always | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Always | In 2 conditions |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Always | In 1 condition |
| PDE6Bphosphodiesterase 6B | Always | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Always | In 4 conditions |
| PEX3peroxisomal biogenesis factor 3 | Always | In 5 conditions |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Always | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Always | In 5 conditions |
| PXDNperoxidasin | Always | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Always | In 2 conditions |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Always | In 3 conditions |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 5 conditions |
| RBM8ARNA binding motif protein 8A | Always | In 1 condition |
| RDH11retinol dehydrogenase 11 | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RNH1ribonuclease/angiogenin inhibitor 1 | Always | In 1 condition |
| SC5Dsterol-C5-desaturase | Always | In 2 conditions |
| SLC25A4solute carrier family 25 member 4 | Always | In 3 conditions |
| SLC4A4solute carrier family 4 member 4 | Always | In 1 condition |
| SNAPINSNAP associated protein | Always | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Always | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Always | In 3 conditions |
| UBA5ubiquitin like modifier activating enzyme 5 | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 1 condition |
| WDR19WD repeat domain 19 | Always | In 2 conditions |
| WRNWRN RecQ like helicase | Always | In 2 conditions |
| XYLT2xylosyltransferase 2 | Always | In 2 conditions |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Always | In 1 condition |
| ZNF526zinc finger protein 526 | Always | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Very often (80–99%) | In 4 conditions |
| ASPHaspartate beta-hydroxylase | Very often (80–99%) | In 1 condition |
| ATOH7atonal bHLH transcription factor 7 | Very often (80–99%) | In 2 conditions |
| BCORBCL6 corepressor | Very often (80–99%) | In 2 conditions |
| BMP4bone morphogenetic protein 4 | Very often (80–99%) | In 2 conditions |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | 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 |
| CEP57centrosomal protein 57 | Very often (80–99%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Very often (80–99%) | In 3 conditions |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Very often (80–99%) | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Very often (80–99%) | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 7 conditions |
| CRYAAcrystallin alpha A | Very often (80–99%) | In 2 conditions |
| CRYBA4crystallin beta A4 | Very often (80–99%) | In 1 condition |
| CRYBB1crystallin beta B1 | Very often (80–99%) | In 1 condition |
| CRYBB2crystallin beta B2 | Very often (80–99%) | In 1 condition |
| CRYGCcrystallin gamma C | Very often (80–99%) | In 1 condition |
| CRYGDcrystallin gamma D | Very often (80–99%) | In 1 condition |
| CTDP1CTD phosphatase 1 | Very often (80–99%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Very often (80–99%) | In 2 conditions |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Very often (80–99%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Very often (80–99%) | In 4 conditions |
| FTLferritin light chain | Very often (80–99%) | In 3 conditions |
| FZD4frizzled class receptor 4 | Very often (80–99%) | In 3 conditions |
| GBA2glucosylceramidase beta 2 | Very often (80–99%) | In 2 conditions |
| GJA8gap junction protein alpha 8 | Very often (80–99%) | In 2 conditions |
| LSSlanosterol synthase | Very often (80–99%) | In 1 condition |
| MAFMAF bZIP transcription factor | Very often (80–99%) | In 2 conditions |
| NAGAalpha-N-acetylgalactosaminidase | Very often (80–99%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Very often (80–99%) | In 6 conditions |
| NHSNHS actin remodeling regulator | Very often (80–99%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Very often (80–99%) | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Very often (80–99%) | In 2 conditions |
| P3H2prolyl 3-hydroxylase 2 | Very often (80–99%) | In 1 condition |
| PAX6paired box 6 | Very often (80–99%) | In 6 conditions |
| PEX7peroxisomal biogenesis factor 7 | Very often (80–99%) | In 3 conditions |
| PHYHphytanoyl-CoA 2-hydroxylase | Very often (80–99%) | In 2 conditions |
| PTCH1patched 1 | Very often (80–99%) | In 3 conditions |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Very often (80–99%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Very often (80–99%) | In 2 conditions |
| TBC1D20TBC1 domain family member 20 | Very often (80–99%) | In 1 condition |
| TKFCtriokinase and FMN cyclase | Very often (80–99%) | In 2 conditions |
| TRIP13thyroid hormone receptor interactor 13 | Very often (80–99%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Very often (80–99%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Very often (80–99%) | In 1 condition |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Often (30–79%) | In 1 condition |
| ACTBactin beta | Often (30–79%) | In 2 conditions |
| ADGRV1adhesion G protein-coupled receptor V1 | Often (30–79%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Often (30–79%) | In 2 conditions |
| AIPL1AIP like 1 HSP90 co-chaperone | Often (30–79%) | In 1 condition |
| AIREautoimmune regulator | Often (30–79%) | In 2 conditions |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 2 conditions |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Often (30–79%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Often (30–79%) | In 2 conditions |
| ALX1ALX homeobox 1 | Often (30–79%) | In 1 condition |
| ALX3ALX homeobox 3 | Often (30–79%) | In 2 conditions |
| ANO1anoctamin 1 | Often (30–79%) | In 1 condition |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Often (30–79%) | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Often (30–79%) | In 3 conditions |
| B3GLCTbeta 3-glucosyltransferase | Often (30–79%) | In 2 conditions |
| B9D1B9 domain containing 1 | Often (30–79%) | In 1 condition |
| B9D2B9 domain containing 2 | Often (30–79%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Often (30–79%) | In 2 conditions |
| BDNFbrain derived neurotrophic factor | Often (30–79%) | In 1 condition |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Often (30–79%) | In 1 condition |
| BUD13BUD13 spliceosome associated protein | Often (30–79%) | In 1 condition |
| CABP4calcium binding protein 4 | Often (30–79%) | In 1 condition |
| CAV1caveolin 1 | Often (30–79%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 2 conditions |
| CDH11cadherin 11 | Often (30–79%) | In 1 condition |
| CDH23cadherin related 23 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 4 conditions |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 1 condition |
| COL4A5collagen type IV alpha 5 chain | Often (30–79%) | In 2 conditions |
| COL4A6collagen type IV alpha 6 chain | Often (30–79%) | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Often (30–79%) | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Often (30–79%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Often (30–79%) | In 2 conditions |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 3 conditions |
| CRXcone-rod homeobox | Often (30–79%) | In 2 conditions |
| CSPP1centrosome and spindle pole associated protein 1 | Often (30–79%) | In 1 condition |
| DAG1dystroglycan 1 | Often (30–79%) | In 3 conditions |
| DDB2damage specific DNA binding protein 2 | Often (30–79%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Often (30–79%) | In 3 conditions |
| DLL4delta like canonical Notch ligand 4 | Often (30–79%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Often (30–79%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Often (30–79%) | In 4 conditions |
| ELP4elongator acetyltransferase complex subunit 4 | Often (30–79%) | In 1 condition |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Often (30–79%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Often (30–79%) | In 2 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 3 conditions |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 2 conditions |
| ESPNespin | Often (30–79%) | In 1 condition |
| FASFas cell surface death receptor | Often (30–79%) | In 2 conditions |
| FBN1fibrillin 1 | Often (30–79%) | In 5 conditions |
| FBXL4F-box and leucine rich repeat protein 4 | Often (30–79%) | In 1 condition |
| FDXRferredoxin reductase | Often (30–79%) | In 2 conditions |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 2 conditions |
| FKRPfukutin related protein | Often (30–79%) | In 5 conditions |
| FKTNfukutin | Often (30–79%) | In 5 conditions |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Often (30–79%) | In 1 condition |
| FOXC1forkhead box C1 | Often (30–79%) | In 1 condition |
| FOXC2forkhead box C2 | Often (30–79%) | In 1 condition |
| GALEUDP-galactose-4-epimerase | Often (30–79%) | In 1 condition |
| GALK1galactokinase 1 | Often (30–79%) | In 2 conditions |
| GALMgalactose mutarotase | Often (30–79%) | In 2 conditions |
| GALTgalactose-1-phosphate uridylyltransferase | Often (30–79%) | In 2 conditions |
| GDF6growth differentiation factor 6 | Often (30–79%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 4 conditions |
| GJB3gap junction protein beta 3 | Often (30–79%) | In 1 condition |
| GJB4gap junction protein beta 4 | Often (30–79%) | In 1 condition |
| GLAgalactosidase alpha | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 6 conditions |
| GNASGNAS complex locus | Often (30–79%) | In 6 conditions |
| GSNgelsolin | Often (30–79%) | In 2 conditions |
| GTF2H5general transcription factor IIH subunit 5 | Often (30–79%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Often (30–79%) | In 2 conditions |
| HLA-Amajor histocompatibility complex, class I, A | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 2 conditions |
| HMBShydroxymethylbilane synthase | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 4 conditions |
| IFT140intraflagellar transport 140 | Often (30–79%) | In 2 conditions |
| IMPDH1inosine monophosphate dehydrogenase 1 | Often (30–79%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Often (30–79%) | In 2 conditions |
| IQCB1IQ motif containing B1 | Often (30–79%) | In 2 conditions |
| ITPAinosine triphosphatase | Often (30–79%) | In 1 condition |
| KCTD1potassium channel tetramerization domain containing 1 | Often (30–79%) | In 2 conditions |
| KDSR3-ketodihydrosphingosine reductase | Often (30–79%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Often (30–79%) | In 3 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 3 conditions |
| LCA5lebercilin LCA5 | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Often (30–79%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Often (30–79%) | In 2 conditions |
| MAPKAPK5MAPK activated protein kinase 5 | Often (30–79%) | In 1 condition |
| MAXMYC associated transcriptional regulator X | Often (30–79%) | In 1 condition |
| MED25mediator complex subunit 25 | Often (30–79%) | In 1 condition |
| MED27mediator complex subunit 27 | Often (30–79%) | In 1 condition |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Often (30–79%) | In 1 condition |
| MIPEPmitochondrial intermediate peptidase | Often (30–79%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 2 conditions |
| MYO7Amyosin VIIA | Often (30–79%) | In 2 conditions |
| NACC1nucleus accumbens associated 1 | Often (30–79%) | In 1 condition |
| NEU1neuraminidase 1 | Often (30–79%) | In 4 conditions |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Often (30–79%) | In 2 conditions |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 2 conditions |
| NOD2nucleotide binding oligomerization domain containing 2 | Often (30–79%) | In 2 conditions |
| NOTCH1notch receptor 1 | Often (30–79%) | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Often (30–79%) | In 1 condition |
| OATornithine aminotransferase | Often (30–79%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 2 conditions |
| PCDH15protocadherin related 15 | Often (30–79%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Often (30–79%) | In 1 condition |
| PDZD7PDZ domain containing 7 | Often (30–79%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 4 conditions |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 3 conditions |
| PEX11Bperoxisomal biogenesis factor 11 beta | Often (30–79%) | In 3 conditions |
| PEX12peroxisomal biogenesis factor 12 | Often (30–79%) | In 3 conditions |
| PEX13peroxisomal biogenesis factor 13 | Often (30–79%) | In 4 conditions |
| PEX14peroxisomal biogenesis factor 14 | Often (30–79%) | In 3 conditions |
| PEX16peroxisomal biogenesis factor 16 | Often (30–79%) | In 5 conditions |
| PEX19peroxisomal biogenesis factor 19 | Often (30–79%) | In 3 conditions |
| PEX2peroxisomal biogenesis factor 2 | Often (30–79%) | In 4 conditions |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 4 conditions |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 3 conditions |
| PLCG2phospholipase C gamma 2 | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 2 conditions |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 4 conditions |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 4 conditions |
| PRPH2peripherin 2 | Often (30–79%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Often (30–79%) | In 2 conditions |
| PTENphosphatase and tensin homolog | Often (30–79%) | In 3 conditions |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Often (30–79%) | In 2 conditions |
| RB1RB transcriptional corepressor 1 | Often (30–79%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Often (30–79%) | In 1 condition |
| RD3RD3 regulator of GUCY2D | Often (30–79%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Often (30–79%) | In 1 condition |
| RNF13ring finger protein 13 | Often (30–79%) | In 2 conditions |
| RPE65retinoid isomerohydrolase RPE65 | Often (30–79%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Often (30–79%) | In 3 conditions |
| RPGRIP1LRPGRIP1 like | Often (30–79%) | In 1 condition |
| RRAGCRas related GTP binding C | Often (30–79%) | In 1 condition |
| RSPO2R-spondin 2 | Often (30–79%) | In 1 condition |
| RTN2reticulon 2 | Often (30–79%) | In 1 condition |
| SALL2spalt like transcription factor 2 | Often (30–79%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Often (30–79%) | In 1 condition |
| SLC16A12solute carrier family 16 member 12 | Often (30–79%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Often (30–79%) | In 2 conditions |
| SMG8SMG8 nonsense mediated mRNA decay factor | Often (30–79%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Often (30–79%) | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Often (30–79%) | In 1 condition |
| SPRTNSprT-like N-terminal domain | Often (30–79%) | In 1 condition |
| SREBF1sterol regulatory element binding transcription factor 1 | Often (30–79%) | In 2 conditions |
| STX16syntaxin 16 | Often (30–79%) | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Often (30–79%) | In 1 condition |
| TBR1T-box brain transcription factor 1 | Often (30–79%) | In 1 condition |
| TBX4T-box transcription factor 4 | Often (30–79%) | In 1 condition |
| TCTN1tectonic family member 1 | Often (30–79%) | In 1 condition |
| TCTN2tectonic family member 2 | Often (30–79%) | In 1 condition |
| TCTN3tectonic family member 3 | Often (30–79%) | In 1 condition |
| TKTtransketolase | Often (30–79%) | In 1 condition |
| TMEM107transmembrane protein 107 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TMEM237transmembrane protein 237 | Often (30–79%) | In 1 condition |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 3 conditions |
| TRIM44TRIM family member 44 | Often (30–79%) | In 2 conditions |
| TUBB4Btubulin beta 4B class IVb | Often (30–79%) | In 1 condition |
| TUBG1tubulin gamma 1 | Often (30–79%) | In 1 condition |
| TULP1TUB like protein 1 | Often (30–79%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Often (30–79%) | In 1 condition |
| USH1CUSH1 protein network component harmonin | Often (30–79%) | In 1 condition |
| USH1GUSH1 protein network component sans | Often (30–79%) | In 1 condition |
| USH2Ausherin | Often (30–79%) | In 1 condition |
| USP45ubiquitin specific peptidase 45 | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Often (30–79%) | In 1 condition |
| WHRNwhirlin | Often (30–79%) | In 1 condition |
| WNT3Wnt family member 3 | Often (30–79%) | In 2 conditions |
| WT1WT1 transcription factor | Often (30–79%) | In 2 conditions |
| XPAXPA, DNA damage recognition and repair factor | Often (30–79%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Often (30–79%) | In 1 condition |
| YAP1Yes1 associated transcriptional regulator | Often (30–79%) | In 2 conditions |
| ABCA12ATP binding cassette subfamily A member 12 | Sometimes (5–29%) | In 2 conditions |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Sometimes (5–29%) | In 1 condition |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Sometimes (5–29%) | In 2 conditions |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Sometimes (5–29%) | In 1 condition |
| ADAMTSL4ADAMTS like 4 | Sometimes (5–29%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Sometimes (5–29%) | In 1 condition |
| ANO10anoctamin 10 | Sometimes (5–29%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Sometimes (5–29%) | In 1 condition |
| APOA1apolipoprotein A1 | Sometimes (5–29%) | In 1 condition |
| ARCN1archain 1 coat protein complex I subunit delta | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | Sometimes (5–29%) | In 2 conditions |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Sometimes (5–29%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Sometimes (5–29%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Sometimes (5–29%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Sometimes (5–29%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Sometimes (5–29%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sometimes (5–29%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sometimes (5–29%) | In 2 conditions |
| ATP8A2ATPase phospholipid transporting 8A2 | Sometimes (5–29%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Sometimes (5–29%) | In 2 conditions |
| BBS10Bardet-Biedl syndrome 10 | Sometimes (5–29%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Sometimes (5–29%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Sometimes (5–29%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Sometimes (5–29%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Sometimes (5–29%) | In 1 condition |
| BCAP31B cell receptor associated protein 31 | 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 |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 2 conditions |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| BTNL2butyrophilin like 2 | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Sometimes (5–29%) | In 1 condition |
| CA8carbonic anhydrase 8 (inactive) | Sometimes (5–29%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CBScystathionine beta-synthase | Sometimes (5–29%) | In 1 condition |
| CCDC28Bcoiled-coil domain containing 28B | Sometimes (5–29%) | In 1 condition |
| CCR1C-C motif chemokine receptor 1 | Sometimes (5–29%) | In 1 condition |
| CEP164centrosomal protein 164 | Sometimes (5–29%) | In 1 condition |
| CEP19centrosomal protein 19 | Sometimes (5–29%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Sometimes (5–29%) | In 2 conditions |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL25A1collagen type XXV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| COQ6coenzyme Q6, monooxygenase | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 4 conditions |
| CTC1CST telomere replication complex component 1 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 2 conditions |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sometimes (5–29%) | In 2 conditions |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sometimes (5–29%) | In 1 condition |
| DGUOKdeoxyguanosine kinase | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 2 conditions |
| DMPKDM1 protein kinase | Sometimes (5–29%) | In 2 conditions |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DNMT1DNA methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| DSG4desmoglein 4 | 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 |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| EPCAMepithelial cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Sometimes (5–29%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Sometimes (5–29%) | In 1 condition |
| FAM111BFAM111 trypsin like peptidase B | Sometimes (5–29%) | In 1 condition |
| FAM50Afamily with sequence similarity 50 member A | Sometimes (5–29%) | In 1 condition |
| FANCAFA complementation group A | Sometimes (5–29%) | In 1 condition |
| FANCBFA complementation group B | 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 |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FGF3fibroblast growth factor 3 | Sometimes (5–29%) | In 1 condition |
| FHfumarate hydratase | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Sometimes (5–29%) | In 2 conditions |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 2 conditions |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Sometimes (5–29%) | In 1 condition |
| HTRA2HtrA serine peptidase 2 | Sometimes (5–29%) | In 1 condition |
| HYAL2hyaluronidase 2 | Sometimes (5–29%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT27intraflagellar transport 27 | Sometimes (5–29%) | In 1 condition |
| IFT54intraflagellar transport 54 | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Sometimes (5–29%) | In 2 conditions |
| IL10interleukin 10 | Sometimes (5–29%) | In 1 condition |
| IL12Ainterleukin 12A | Sometimes (5–29%) | In 1 condition |
| IL12A-AS1IL12A antisense RNA 1 | Sometimes (5–29%) | In 1 condition |
| IL23Rinterleukin 23 receptor | Sometimes (5–29%) | In 1 condition |
| INVSinversin | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sometimes (5–29%) | In 2 conditions |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 2 conditions |
| KIF21Akinesin family member 21A | Sometimes (5–29%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Sometimes (5–29%) | In 1 condition |
| KRT25keratin 25 | Sometimes (5–29%) | In 1 condition |
| KRT71keratin 71 | Sometimes (5–29%) | In 1 condition |
| KRT74keratin 74 | Sometimes (5–29%) | In 1 condition |
| KRT81keratin 81 | Sometimes (5–29%) | In 1 condition |
| KRT83keratin 83 | Sometimes (5–29%) | In 1 condition |
| KRT86keratin 86 | Sometimes (5–29%) | In 1 condition |
| LAMB1laminin subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| LIG3DNA ligase 3 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LIPHlipase H | Sometimes (5–29%) | In 1 condition |
| LMBRD2LMBR1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 1 condition |
| LPAR6lysophosphatidic acid receptor 6 | Sometimes (5–29%) | In 1 condition |
| LRP2LDL receptor related protein 2 | Sometimes (5–29%) | In 1 condition |
| LRP4LDL receptor related protein 4 | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 3 conditions |
| LTBP2latent transforming growth factor beta binding protein 2 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MED11mediator complex subunit 11 | Sometimes (5–29%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Sometimes (5–29%) | In 2 conditions |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 1 condition |
| NEK9NIMA related kinase 9 | Sometimes (5–29%) | In 1 condition |
| NHP2NHP2 ribonucleoprotein | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 2 conditions |
| NPHP3nephrocystin 3 | Sometimes (5–29%) | In 1 condition |
| NPHP4nephrocystin 4 | Sometimes (5–29%) | In 1 condition |
| NPM1nucleophosmin 1 | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| OCLNoccludin | Sometimes (5–29%) | In 1 condition |
| PAK2p21 (RAC1) activated kinase 2 | Sometimes (5–29%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Sometimes (5–29%) | In 1 condition |
| PAX2paired box 2 | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PHF6PHD finger protein 6 | Sometimes (5–29%) | In 1 condition |
| PHOX2Apaired like homeobox 2A | Sometimes (5–29%) | In 1 condition |
| PLK4polo like kinase 4 | Sometimes (5–29%) | In 1 condition |
| PMM2phosphomannomutase 2 | Sometimes (5–29%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 4 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Sometimes (5–29%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Sometimes (5–29%) | In 1 condition |
| POLR1BRNA polymerase I subunit B | Sometimes (5–29%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Sometimes (5–29%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Sometimes (5–29%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Sometimes (5–29%) | In 1 condition |
| POMKprotein O-mannose kinase | Sometimes (5–29%) | In 3 conditions |
| PORCNporcupine O-acyltransferase | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRIM1DNA primase subunit 1 | Sometimes (5–29%) | In 1 condition |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| PRR12proline rich 12 | Sometimes (5–29%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Sometimes (5–29%) | In 1 condition |
| PTCH2patched 2 | Sometimes (5–29%) | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| RAD51RAD51 recombinase | Sometimes (5–29%) | In 1 condition |
| RAD51CRAD51 paralog C | Sometimes (5–29%) | In 1 condition |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Sometimes (5–29%) | In 1 condition |
| RHOAras homolog family member A | Sometimes (5–29%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Sometimes (5–29%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 2 conditions |
| RRP12ribosomal RNA processing 12 homolog | Sometimes (5–29%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Sometimes (5–29%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 2 conditions |
| SBF2SET binding factor 2 | Sometimes (5–29%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Sometimes (5–29%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Sometimes (5–29%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sometimes (5–29%) | In 2 conditions |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| SHROOM4shroom family member 4 | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SIX6SIX homeobox 6 | Sometimes (5–29%) | In 2 conditions |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SLF2SMC5/6 complex localization factor 2 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| SMAD3SMAD family member 3 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 2 conditions |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 2 conditions |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TCOF1treacle ribosome biogenesis factor 1 | Sometimes (5–29%) | In 1 condition |
| TERCtelomerase RNA component | Sometimes (5–29%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Sometimes (5–29%) | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Sometimes (5–29%) | In 2 conditions |
| TINF2TERF1 interacting nuclear factor 2 | Sometimes (5–29%) | In 1 condition |
| TLR4toll like receptor 4 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TMEM70transmembrane protein 70 | Sometimes (5–29%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sometimes (5–29%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Sometimes (5–29%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Sometimes (5–29%) | In 1 condition |
| TSHZ3teashirt zinc finger homeobox 3 | Sometimes (5–29%) | In 1 condition |
| TSPAN12tetraspanin 12 | Sometimes (5–29%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Sometimes (5–29%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Sometimes (5–29%) | In 2 conditions |
| TUBB3tubulin beta 3 class III | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 4 conditions |
| TYMSthymidylate synthetase | Sometimes (5–29%) | In 1 condition |
| UBAC2UBA domain containing 2 | Sometimes (5–29%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 2 conditions |
| VCPvalosin containing protein | Sometimes (5–29%) | In 1 condition |
| VLDLRvery low density lipoprotein receptor | Sometimes (5–29%) | In 2 conditions |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| WDR35WD repeat domain 35 | Sometimes (5–29%) | In 1 condition |
| WDR81WD repeat domain 81 | Sometimes (5–29%) | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Sometimes (5–29%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Sometimes (5–29%) | In 1 condition |
| XRCC4X-ray repair cross complementing 4 | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 3 conditions |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZNF408zinc finger protein 408 | Sometimes (5–29%) | In 2 conditions |
| ALDOBaldolase, fructose-bisphosphate B | Rarely (1–4%) | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Rarely (1–4%) | In 1 condition |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Rarely (1–4%) | In 1 condition |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Rarely (1–4%) | In 1 condition |
| AMMECR1AMMECR nuclear protein 1 | Rarely (1–4%) | In 1 condition |
| ANKRD55ankyrin repeat domain 55 | Rarely (1–4%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Rarely (1–4%) | In 1 condition |
| ARSLarylsulfatase L | Rarely (1–4%) | In 2 conditions |
| ASPRV1aspartic peptidase retroviral like 1 | Rarely (1–4%) | In 1 condition |
| CD247CD247 molecule | Rarely (1–4%) | In 1 condition |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Rarely (1–4%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Rarely (1–4%) | In 1 condition |
| DNM1Ldynamin 1L | Rarely (1–4%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Rarely (1–4%) | In 2 conditions |
| IL2RAinterleukin 2 receptor subunit alpha | Rarely (1–4%) | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Rarely (1–4%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Rarely (1–4%) | In 1 condition |
| LIPNlipase family member N | Rarely (1–4%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Rarely (1–4%) | In 1 condition |
| NIPAL4NIPA like domain containing 4 | Rarely (1–4%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Rarely (1–4%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Rarely (1–4%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Rarely (1–4%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Rarely (1–4%) | In 1 condition |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Rarely (1–4%) | In 1 condition |
| SLC25A13solute carrier family 25 member 13 | Rarely (1–4%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| SULT2B1sulfotransferase family 2B member 1 | Rarely (1–4%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Rarely (1–4%) | In 2 conditions |
| TGM1transglutaminase 1 | Rarely (1–4%) | In 1 condition |
| AGAaspartylglucosaminidase | Not recorded | In 1 condition |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| CENPFcentromere protein F | Not recorded | In 1 condition |
| CHRDL1chordin like 1 | Not recorded | In 1 condition |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Not recorded | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Not recorded | In 1 condition |
| COL4A4collagen type IV alpha 4 chain | Not recorded | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Not recorded | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Not recorded | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Not recorded | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Not recorded | In 1 condition |
| FGF5fibroblast growth factor 5 | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 1 condition |
| GFERgrowth factor, augmenter of liver regeneration | Not recorded | In 1 condition |
| GJB6gap junction protein beta 6 | Not recorded | In 1 condition |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Not recorded | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Not recorded | In 1 condition |
| LAS1LLAS1 like ribosome biogenesis factor | Not recorded | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Not recorded | In 1 condition |
| LOXL1lysyl oxidase like 1 | Not recorded | In 1 condition |
| MAB21L2mab-21 like 2 | Not recorded | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Not recorded | In 1 condition |
| PAHphenylalanine hydroxylase | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Not recorded | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Not recorded | In 1 condition |
| PITX3paired like homeodomain 3 | Not recorded | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Not recorded | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Not recorded | In 1 condition |
| PTHparathyroid hormone | Not recorded | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Not recorded | In 1 condition |
| SLC40A1solute carrier family 40 member 1 | Not recorded | In 1 condition |
| TDRD7tudor domain containing 7 | Not recorded | In 1 condition |
| TGFBItransforming growth factor beta induced | Not recorded | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | Not recorded | In 1 condition |
| VCANversican | Not recorded | In 1 condition |
| VSX2visual system homeobox 2 | Not recorded | In 1 condition |
| WDR73WD repeat domain 73 | Not recorded | In 1 condition |
| ZNF335zinc finger protein 335 | 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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