Trait
Glaucoma
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test357 genes linked to Glaucoma
Changes in these genes cause rare conditions in which Glaucoma 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Always | In 2 conditions |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Always | In 2 conditions |
| COL18A1collagen type XVIII alpha 1 chain | Always | In 1 condition |
| FLNAfilamin A | Always | In 1 condition |
| GJA1gap junction protein alpha 1 | Always | In 3 conditions |
| LIM2lens intrinsic membrane protein 2 | Always | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Always | In 1 condition |
| NHEJ1non-homologous end joining factor 1 | Always | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 4 conditions |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Always | In 2 conditions |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 1 condition |
| SLC4A4solute carrier family 4 member 4 | Always | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Always | In 1 condition |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Very often (80–99%) | In 2 conditions |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Very often (80–99%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 2 conditions |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| BEST1bestrophin 1 | Very often (80–99%) | In 3 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 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Very often (80–99%) | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Very often (80–99%) | In 1 condition |
| CEP57centrosomal protein 57 | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 2 conditions |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 3 conditions |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Very often (80–99%) | In 1 condition |
| CYP1B1cytochrome P450 family 1 subfamily B member 1 | Very often (80–99%) | In 1 condition |
| FBN1fibrillin 1 | Very often (80–99%) | In 7 conditions |
| FKRPfukutin related protein | Very often (80–99%) | In 3 conditions |
| FKTNfukutin | Very often (80–99%) | In 4 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Very often (80–99%) | In 1 condition |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 4 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 3 conditions |
| LTBP2latent transforming growth factor beta binding protein 2 | Very often (80–99%) | In 3 conditions |
| MFRPmembrane frizzled-related protein | Very often (80–99%) | In 1 condition |
| MYOCmyocilin | Very often (80–99%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Very often (80–99%) | In 2 conditions |
| PITX2paired like homeodomain 2 | Very often (80–99%) | In 3 conditions |
Show 317 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 3 conditions |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 4 conditions |
| PRSS56serine protease 56 | Very often (80–99%) | In 1 condition |
| RAXretina and anterior neural fold homeobox | Very often (80–99%) | In 1 condition |
| RIGIRNA sensor RIG-I | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| RS1retinoschisin 1 | Very often (80–99%) | In 1 condition |
| SIX6SIX homeobox 6 | Very often (80–99%) | In 2 conditions |
| SOX2SRY-box transcription factor 2 | Very often (80–99%) | In 1 condition |
| TEKTEK receptor tyrosine kinase | Very often (80–99%) | In 2 conditions |
| TMEM98transmembrane protein 98 | Very often (80–99%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Very often (80–99%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Often (30–79%) | In 1 condition |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Often (30–79%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Often (30–79%) | In 1 condition |
| AGKacylglycerol kinase | Often (30–79%) | In 2 conditions |
| AHI1Abelson helper integration site 1 | Often (30–79%) | In 1 condition |
| AHRaryl hydrocarbon receptor | Often (30–79%) | In 1 condition |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Often (30–79%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Often (30–79%) | In 2 conditions |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Often (30–79%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Often (30–79%) | In 1 condition |
| ARL3ARF like GTPase 3 | Often (30–79%) | In 1 condition |
| ARL6ARF like GTPase 6 | Often (30–79%) | In 2 conditions |
| ATRATR checkpoint kinase | Often (30–79%) | In 1 condition |
| ATRIPATR interacting protein | Often (30–79%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Often (30–79%) | In 2 conditions |
| BBS2Bardet-Biedl syndrome 2 | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 3 conditions |
| CA4carbonic anhydrase 4 | Often (30–79%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Often (30–79%) | In 2 conditions |
| CCDC22CCC complex scaffolding subunit CCDC22 | Often (30–79%) | In 2 conditions |
| CDH11cadherin 11 | Often (30–79%) | In 1 condition |
| CDHR1cadherin related family member 1 | Often (30–79%) | In 1 condition |
| CENPEcentromere protein E | Often (30–79%) | In 1 condition |
| CEP152centrosomal protein 152 | Often (30–79%) | In 1 condition |
| CEP295centrosomal protein 295 | Often (30–79%) | In 1 condition |
| CEP63centrosomal protein 63 | Often (30–79%) | In 1 condition |
| CERKLCERK like autophagy regulator | Often (30–79%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Often (30–79%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Often (30–79%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Often (30–79%) | In 2 conditions |
| CLRN1clarin 1 | Often (30–79%) | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Often (30–79%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Often (30–79%) | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Often (30–79%) | In 3 conditions |
| COL4A1collagen type IV alpha 1 chain | Often (30–79%) | In 2 conditions |
| COQ8Bcoenzyme Q8B | Often (30–79%) | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Often (30–79%) | In 1 condition |
| CRXcone-rod homeobox | Often (30–79%) | In 1 condition |
| DAG1dystroglycan 1 | Often (30–79%) | In 2 conditions |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Often (30–79%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Often (30–79%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Often (30–79%) | In 2 conditions |
| EXOSC2exosome component 2 | Often (30–79%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Often (30–79%) | In 1 condition |
| FAM161AFAM161 centrosomal protein A | Often (30–79%) | In 1 condition |
| FAT4FAT atypical cadherin 4 | Often (30–79%) | In 1 condition |
| FOXC1forkhead box C1 | Often (30–79%) | In 4 conditions |
| FSCN2fascin actin-bundling protein 2, retinal | Often (30–79%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Often (30–79%) | In 1 condition |
| FUT8fucosyltransferase 8 | Often (30–79%) | In 1 condition |
| GJB3gap junction protein beta 3 | Often (30–79%) | In 1 condition |
| GJB4gap junction protein beta 4 | Often (30–79%) | In 1 condition |
| GNAQG protein subunit alpha q | Often (30–79%) | In 2 conditions |
| GUCA1Bguanylate cyclase activator 1B | Often (30–79%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Often (30–79%) | In 1 condition |
| HKDC1hexokinase domain containing 1 | Often (30–79%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Often (30–79%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Often (30–79%) | In 2 conditions |
| IFT140intraflagellar transport 140 | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 1 condition |
| IFT43intraflagellar transport 43 | Often (30–79%) | In 1 condition |
| IFT88intraflagellar transport 88 | Often (30–79%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Often (30–79%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Often (30–79%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Often (30–79%) | In 1 condition |
| KDSR3-ketodihydrosphingosine reductase | Often (30–79%) | In 1 condition |
| KIAA1549KIAA1549 | Often (30–79%) | In 1 condition |
| KIZkizuna centrosomal protein | Often (30–79%) | In 1 condition |
| KLHL7kelch like family member 7 | Often (30–79%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Often (30–79%) | In 1 condition |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Often (30–79%) | In 1 condition |
| MAGmyelin associated glycoprotein | Often (30–79%) | In 1 condition |
| MAKmale germ cell associated kinase | Often (30–79%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Often (30–79%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Often (30–79%) | In 3 conditions |
| NDRG1N-myc downstream regulated 1 | Often (30–79%) | In 1 condition |
| NEK2NIMA related kinase 2 | Often (30–79%) | In 1 condition |
| NINninein | Often (30–79%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Often (30–79%) | In 2 conditions |
| NOS3nitric oxide synthase 3 | Often (30–79%) | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Often (30–79%) | In 1 condition |
| NRLneural retina leucine zipper | Often (30–79%) | In 1 condition |
| NSMCE2NSE2 SUMO ligase component of SMC5/6 complex | Often (30–79%) | In 1 condition |
| NUP85nucleoporin 85 | 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 1 condition |
| PAX6paired box 6 | Often (30–79%) | In 4 conditions |
| PCAREphotoreceptor cilium actin regulator | Often (30–79%) | In 1 condition |
| PCNTpericentrin | Often (30–79%) | In 1 condition |
| PDE6Aphosphodiesterase 6A | Often (30–79%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Often (30–79%) | In 1 condition |
| PDE6Gphosphodiesterase 6G | Often (30–79%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Often (30–79%) | In 2 conditions |
| PLK4polo like kinase 4 | Often (30–79%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Often (30–79%) | In 2 conditions |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| PRCDphotoreceptor disc component | Often (30–79%) | In 1 condition |
| PROM1prominin 1 | Often (30–79%) | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | Often (30–79%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Often (30–79%) | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Often (30–79%) | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Often (30–79%) | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Often (30–79%) | In 1 condition |
| PRPH2peripherin 2 | Often (30–79%) | In 1 condition |
| PUS1pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| RBBP8RB binding protein 8, endonuclease | Often (30–79%) | In 1 condition |
| RBP3retinol binding protein 3 | Often (30–79%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Often (30–79%) | In 1 condition |
| REEP6receptor accessory protein 6 | Often (30–79%) | In 1 condition |
| RGRretinal G protein coupled receptor | Often (30–79%) | In 1 condition |
| RHOrhodopsin | Often (30–79%) | In 1 condition |
| RLBP1retinaldehyde binding protein 1 | Often (30–79%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Often (30–79%) | In 1 condition |
| RNU6-1RNA, U6 small nuclear 1 | Often (30–79%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Often (30–79%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Often (30–79%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Often (30–79%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Often (30–79%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Often (30–79%) | In 1 condition |
| RP1L1RP1 like 1 | Often (30–79%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Often (30–79%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Often (30–79%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Often (30–79%) | In 1 condition |
| RPGRretinitis pigmentosa GTPase regulator | Often (30–79%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| SAGS-antigen visual arrestin | Often (30–79%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Often (30–79%) | In 1 condition |
| SBF2SET binding factor 2 | Often (30–79%) | In 2 conditions |
| SCAPERS-phase cyclin A associated protein in the ER | Often (30–79%) | In 1 condition |
| SEMA4Asemaphorin 4A | Often (30–79%) | In 1 condition |
| SLC7A14solute carrier family 7 member 14 | Often (30–79%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Often (30–79%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Often (30–79%) | In 1 condition |
| TRAIPTRAF interacting protein | Often (30–79%) | In 1 condition |
| TRIM44TRIM family member 44 | Often (30–79%) | In 2 conditions |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Often (30–79%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Often (30–79%) | In 1 condition |
| TUBTUB bipartite transcription factor | Often (30–79%) | In 1 condition |
| TULP1TUB like protein 1 | Often (30–79%) | In 1 condition |
| USH2Ausherin | Often (30–79%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Often (30–79%) | In 3 conditions |
| WT1WT1 transcription factor | Often (30–79%) | In 2 conditions |
| YARS2tyrosyl-tRNA synthetase 2 | Often (30–79%) | In 1 condition |
| ZNF408zinc finger protein 408 | Often (30–79%) | In 1 condition |
| ZNF513zinc finger protein 513 | Often (30–79%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Often (30–79%) | In 2 conditions |
| ADARadenosine deaminase RNA specific | Sometimes (5–29%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| ARSBarylsulfatase B | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BDNFbrain derived neurotrophic factor | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | 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 |
| CBScystathionine beta-synthase | Sometimes (5–29%) | In 2 conditions |
| CHD6chromodomain helicase DNA binding protein 6 | Sometimes (5–29%) | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CPLX1complexin 1 | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 3 conditions |
| CRYBA2crystallin beta A2 | Sometimes (5–29%) | In 1 condition |
| CRYBB3crystallin beta B3 | Sometimes (5–29%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Sometimes (5–29%) | In 1 condition |
| DCNdecorin | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| DSEdermatan sulfate epimerase | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| FAM50Afamily with sequence similarity 50 member A | Sometimes (5–29%) | In 1 condition |
| FASFas cell surface death receptor | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| GSNgelsolin | 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 |
| GZF1GDNF inducible zinc finger protein 1 | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Sometimes (5–29%) | In 1 condition |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 3 conditions |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LMBRD2LMBR1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Sometimes (5–29%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Sometimes (5–29%) | In 1 condition |
| MAFMAF bZIP transcription factor | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 2 conditions |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| NHSNHS actin remodeling regulator | Sometimes (5–29%) | In 2 conditions |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Sometimes (5–29%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Sometimes (5–29%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sometimes (5–29%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Sometimes (5–29%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Sometimes (5–29%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Sometimes (5–29%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Sometimes (5–29%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Sometimes (5–29%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sometimes (5–29%) | In 1 condition |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sometimes (5–29%) | In 2 conditions |
| PRDM5PR/SET domain 5 | Sometimes (5–29%) | In 1 condition |
| PRR12proline rich 12 | Sometimes (5–29%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 2 conditions |
| PTCH2patched 2 | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 2 conditions |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RHOAras homolog family member A | Sometimes (5–29%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Sometimes (5–29%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Sometimes (5–29%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Sometimes (5–29%) | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | 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 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sometimes (5–29%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | 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 |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | 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 |
| TGFB1transforming growth factor beta 1 | Sometimes (5–29%) | In 1 condition |
| TKFCtriokinase and FMN cyclase | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Sometimes (5–29%) | In 3 conditions |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| VCANversican | Sometimes (5–29%) | In 2 conditions |
| VPS35LVPS35 endosomal protein sorting factor like | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 1 condition |
| YAP1Yes1 associated transcriptional regulator | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZNF469zinc finger protein 469 | Sometimes (5–29%) | In 1 condition |
| ACVR1activin A receptor type 1 | Rarely (1–4%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Rarely (1–4%) | In 1 condition |
| ANKRD55ankyrin repeat domain 55 | Rarely (1–4%) | In 1 condition |
| CD247CD247 molecule | Rarely (1–4%) | In 1 condition |
| COL8A2collagen type VIII alpha 2 chain | Rarely (1–4%) | In 1 condition |
| GRHL2grainyhead like transcription factor 2 | Rarely (1–4%) | In 1 condition |
| HPD4-hydroxyphenylpyruvate dioxygenase | Rarely (1–4%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Rarely (1–4%) | In 1 condition |
| IL2RAinterleukin 2 receptor subunit alpha | Rarely (1–4%) | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Rarely (1–4%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Rarely (1–4%) | In 1 condition |
| OVOL2ovo like zinc finger 2 | Rarely (1–4%) | In 2 conditions |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Rarely (1–4%) | In 1 condition |
| SKIC2SKI2 subunit of superkiller complex | Rarely (1–4%) | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Rarely (1–4%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Rarely (1–4%) | In 1 condition |
| STUB1STIP1 homology and U-box containing protein 1 | Rarely (1–4%) | In 1 condition |
| VSX1visual system homeobox 1 | Rarely (1–4%) | In 1 condition |
| ZEB1zinc finger E-box binding homeobox 1 | Rarely (1–4%) | In 1 condition |
| ATOH7atonal bHLH transcription factor 7 | Not recorded | In 1 condition |
| CCDC28Bcoiled-coil domain containing 28B | Not recorded | In 1 condition |
| CHRDL1chordin like 1 | Not recorded | In 1 condition |
| CRYAAcrystallin alpha A | Not recorded | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Not recorded | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | 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 |
| MASP1MBL associated serine protease 1 | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| TIMP3TIMP metallopeptidase inhibitor 3 | 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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