Trait
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Summary
- Also called
- Legal blindness, Total vision loss
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test311 genes linked to Blindness
Changes in these genes cause rare conditions in which Blindness 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Always | In 1 condition |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Always | In 1 condition |
| CAPN5calpain 5 | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 2 conditions |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 3 conditions |
| KLC4kinesin light chain 4 | Always | In 1 condition |
| LRP5LDL receptor related protein 5 | Always | In 5 conditions |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| NDC1NDC1 transmembrane nucleoporin | Always | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Always | In 2 conditions |
| NHEJ1non-homologous end joining factor 1 | Always | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Very often (80–99%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Very often (80–99%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Very often (80–99%) | In 1 condition |
| AHRaryl hydrocarbon receptor | Very often (80–99%) | In 1 condition |
| ALMS1ALMS1 centrosome and basal body associated protein | Very often (80–99%) | In 2 conditions |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Very often (80–99%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Very often (80–99%) | In 1 condition |
| ARL3ARF like GTPase 3 | Very often (80–99%) | In 1 condition |
| ARL6ARF like GTPase 6 | Very often (80–99%) | In 2 conditions |
| BBS1Bardet-Biedl syndrome 1 | Very often (80–99%) | In 2 conditions |
| BBS2Bardet-Biedl syndrome 2 | Very often (80–99%) | In 2 conditions |
| BEST1bestrophin 1 | Very often (80–99%) | In 2 conditions |
| CA4carbonic anhydrase 4 | Very often (80–99%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 2 conditions |
| CDH3cadherin 3 | Very often (80–99%) | In 2 conditions |
| CDHR1cadherin related family member 1 | Very often (80–99%) | In 1 condition |
| CERKLCERK like autophagy regulator | Very often (80–99%) | In 1 condition |
| CFAP20cilia and flagella associated protein 20 | Very often (80–99%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Very often (80–99%) | In 3 conditions |
| CLRN1clarin 1 | Very often (80–99%) | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Very often (80–99%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Very often (80–99%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 1 condition |
| CRXcone-rod homeobox | Very often (80–99%) | In 2 conditions |
Show 271 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DHDDSdehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Very often (80–99%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Very often (80–99%) | In 1 condition |
| FAM161AFAM161 centrosomal protein A | Very often (80–99%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Very often (80–99%) | In 2 conditions |
| FREM2FRAS1 related extracellular matrix 2 | Very often (80–99%) | In 1 condition |
| FSCN2fascin actin-bundling protein 2, retinal | Very often (80–99%) | In 1 condition |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Very often (80–99%) | In 1 condition |
| GLB1galactosidase beta 1 | Very often (80–99%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Very often (80–99%) | In 1 condition |
| GUCA1Bguanylate cyclase activator 1B | Very often (80–99%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Very often (80–99%) | In 1 condition |
| HKDC1hexokinase domain containing 1 | Very often (80–99%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Very often (80–99%) | In 1 condition |
| IFT172intraflagellar transport 172 | Very often (80–99%) | In 2 conditions |
| IFT43intraflagellar transport 43 | Very often (80–99%) | In 1 condition |
| IFT88intraflagellar transport 88 | Very often (80–99%) | In 1 condition |
| IMPDH1inosine monophosphate dehydrogenase 1 | Very often (80–99%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Very often (80–99%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KIAA1549KIAA1549 | Very often (80–99%) | In 1 condition |
| KIZkizuna centrosomal protein | Very often (80–99%) | In 1 condition |
| KLHL7kelch like family member 7 | Very often (80–99%) | In 1 condition |
| LRATlecithin retinol acyltransferase | Very often (80–99%) | In 1 condition |
| MAKmale germ cell associated kinase | Very often (80–99%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Very often (80–99%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Very often (80–99%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Very often (80–99%) | In 5 conditions |
| NEK2NIMA related kinase 2 | Very often (80–99%) | In 1 condition |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Very often (80–99%) | In 1 condition |
| NRLneural retina leucine zipper | Very often (80–99%) | In 2 conditions |
| OFD1OFD1 centriole and centriolar satellite protein | Very often (80–99%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Very often (80–99%) | In 1 condition |
| PDE6Aphosphodiesterase 6A | Very often (80–99%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Very often (80–99%) | In 1 condition |
| PDE6Gphosphodiesterase 6G | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 2 conditions |
| PRCDphotoreceptor disc component | Very often (80–99%) | In 1 condition |
| PROM1prominin 1 | Very often (80–99%) | In 1 condition |
| PRPF3pre-mRNA processing factor 3 | Very often (80–99%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Very often (80–99%) | In 2 conditions |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Very often (80–99%) | In 1 condition |
| PRPF6pre-mRNA processing factor 6 | Very often (80–99%) | In 1 condition |
| PRPF8pre-mRNA processing factor 8 | Very often (80–99%) | In 1 condition |
| PRPH2peripherin 2 | Very often (80–99%) | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Very often (80–99%) | In 1 condition |
| RBP3retinol binding protein 3 | Very often (80–99%) | In 1 condition |
| RDH12retinol dehydrogenase 12 | Very often (80–99%) | In 1 condition |
| REEP6receptor accessory protein 6 | Very often (80–99%) | In 1 condition |
| RGRretinal G protein coupled receptor | Very often (80–99%) | In 1 condition |
| RHOrhodopsin | Very often (80–99%) | In 2 conditions |
| RLBP1retinaldehyde binding protein 1 | Very often (80–99%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Very often (80–99%) | In 2 conditions |
| RNU6-1RNA, U6 small nuclear 1 | Very often (80–99%) | In 1 condition |
| RNU6-2RNA, U6 small nuclear 2 | Very often (80–99%) | In 1 condition |
| RNU6-8RNA, U6 small nuclear 8 | Very often (80–99%) | In 1 condition |
| RNU6-9RNA, U6 small nuclear 9 | Very often (80–99%) | In 1 condition |
| ROM1retinal outer segment membrane protein 1 | Very often (80–99%) | In 1 condition |
| RP1RP1 axonemal microtubule associated | Very often (80–99%) | In 1 condition |
| RP1L1RP1 like 1 | Very often (80–99%) | In 1 condition |
| RP2RP2 activator of ARL3 GTPase | Very often (80–99%) | In 1 condition |
| RP9RP9 pre-mRNA splicing factor | Very often (80–99%) | In 1 condition |
| RPE65retinoid isomerohydrolase RPE65 | Very often (80–99%) | In 2 conditions |
| RPGRretinitis pigmentosa GTPase regulator | Very often (80–99%) | In 1 condition |
| SAGS-antigen visual arrestin | Very often (80–99%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Very often (80–99%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Very often (80–99%) | In 2 conditions |
| SEMA4Asemaphorin 4A | Very often (80–99%) | In 2 conditions |
| SLC7A14solute carrier family 7 member 14 | Very often (80–99%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Very often (80–99%) | In 1 condition |
| SPATA7spermatogenesis associated 7 | Very often (80–99%) | In 1 condition |
| TMEM216transmembrane protein 216 | Very often (80–99%) | In 2 conditions |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Very often (80–99%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Very often (80–99%) | In 2 conditions |
| TUBTUB bipartite transcription factor | Very often (80–99%) | In 1 condition |
| TULP1TUB like protein 1 | Very often (80–99%) | In 1 condition |
| USH2Ausherin | Very often (80–99%) | In 1 condition |
| ZNF408zinc finger protein 408 | Very often (80–99%) | In 2 conditions |
| ZNF513zinc finger protein 513 | Very often (80–99%) | In 1 condition |
| ACTBactin beta | Often (30–79%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Often (30–79%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Often (30–79%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Often (30–79%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Often (30–79%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Often (30–79%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Often (30–79%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Often (30–79%) | In 1 condition |
| CEP19centrosomal protein 19 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 2 conditions |
| DHX37DEAH-box helicase 37 | Often (30–79%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Often (30–79%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Often (30–79%) | In 1 condition |
| IFT27intraflagellar transport 27 | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Often (30–79%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 3 conditions |
| NPHP1nephrocystin 1 | Often (30–79%) | In 1 condition |
| OATornithine aminotransferase | Often (30–79%) | In 2 conditions |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 1 condition |
| RBMXRNA binding motif protein X-linked | Often (30–79%) | In 2 conditions |
| SCLT1sodium channel and clathrin linker 1 | Often (30–79%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Often (30–79%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Often (30–79%) | In 1 condition |
| TMEM138transmembrane protein 138 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TMEM237transmembrane protein 237 | Often (30–79%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Often (30–79%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Often (30–79%) | In 1 condition |
| ZNF423zinc finger protein 423 | Often (30–79%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Sometimes (5–29%) | In 1 condition |
| ASPAaspartoacylase | Sometimes (5–29%) | In 2 conditions |
| ATOH7atonal bHLH transcription factor 7 | Sometimes (5–29%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | 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 |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| ATXN7ataxin 7 | Sometimes (5–29%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| BTNL2butyrophilin like 2 | Sometimes (5–29%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Sometimes (5–29%) | In 1 condition |
| CCR1C-C motif chemokine receptor 1 | Sometimes (5–29%) | In 1 condition |
| CDH23cadherin related 23 | Sometimes (5–29%) | In 2 conditions |
| CEP164centrosomal protein 164 | Sometimes (5–29%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | 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 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Sometimes (5–29%) | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Sometimes (5–29%) | In 1 condition |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Sometimes (5–29%) | In 1 condition |
| FASFas cell surface death receptor | Sometimes (5–29%) | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Sometimes (5–29%) | In 1 condition |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 4 conditions |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 3 conditions |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Sometimes (5–29%) | In 1 condition |
| 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 |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Sometimes (5–29%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Sometimes (5–29%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Sometimes (5–29%) | In 1 condition |
| MEN1menin 1 | Sometimes (5–29%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sometimes (5–29%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sometimes (5–29%) | In 1 condition |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Sometimes (5–29%) | In 1 condition |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Sometimes (5–29%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Sometimes (5–29%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Sometimes (5–29%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Sometimes (5–29%) | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Sometimes (5–29%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Sometimes (5–29%) | In 1 condition |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Sometimes (5–29%) | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Sometimes (5–29%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Sometimes (5–29%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Sometimes (5–29%) | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Sometimes (5–29%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 2 conditions |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Sometimes (5–29%) | In 1 condition |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Sometimes (5–29%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Sometimes (5–29%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Sometimes (5–29%) | In 1 condition |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Sometimes (5–29%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Sometimes (5–29%) | In 2 conditions |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Sometimes (5–29%) | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Sometimes (5–29%) | In 1 condition |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Sometimes (5–29%) | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sometimes (5–29%) | In 2 conditions |
| NLRP3NLR family pyrin domain containing 3 | Sometimes (5–29%) | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Sometimes (5–29%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Sometimes (5–29%) | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Sometimes (5–29%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| PLA2G6phospholipase A2 group VI | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 1 condition |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Sometimes (5–29%) | In 1 condition |
| TIMP3TIMP metallopeptidase inhibitor 3 | Sometimes (5–29%) | In 2 conditions |
| TLR4toll like receptor 4 | Sometimes (5–29%) | In 1 condition |
| TM2D3TM2 domain containing 3 | Sometimes (5–29%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Sometimes (5–29%) | In 1 condition |
| TNFSF11TNF superfamily member 11 | Sometimes (5–29%) | In 1 condition |
| TSPAN12tetraspanin 12 | Sometimes (5–29%) | In 1 condition |
| UBAC2UBA domain containing 2 | Sometimes (5–29%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Rarely (1–4%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Rarely (1–4%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Rarely (1–4%) | In 1 condition |
| CD109CD109 molecule | Rarely (1–4%) | In 1 condition |
| FKRPfukutin related protein | Rarely (1–4%) | In 2 conditions |
| GATA1GATA binding protein 1 | Rarely (1–4%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Rarely (1–4%) | In 1 condition |
| GP1BAglycoprotein Ib platelet subunit alpha | Rarely (1–4%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Rarely (1–4%) | In 1 condition |
| ITGA2integrin subunit alpha 2 | Rarely (1–4%) | In 1 condition |
| ITGA2Bintegrin subunit alpha 2b | Rarely (1–4%) | In 1 condition |
| ITGB3integrin subunit beta 3 | Rarely (1–4%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Rarely (1–4%) | In 1 condition |
| PANK2pantothenate kinase 2 | Rarely (1–4%) | In 2 conditions |
| PDGFBplatelet derived growth factor subunit B | Rarely (1–4%) | In 1 condition |
| PGK1phosphoglycerate kinase 1 | Rarely (1–4%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Rarely (1–4%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Rarely (1–4%) | In 1 condition |
| POMKprotein O-mannose kinase | Rarely (1–4%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Rarely (1–4%) | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Rarely (1–4%) | In 2 conditions |
| PQBP1polyglutamine binding protein 1 | Rarely (1–4%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Rarely (1–4%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Rarely (1–4%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Rarely (1–4%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Rarely (1–4%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Rarely (1–4%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Rarely (1–4%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Rarely (1–4%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Rarely (1–4%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Rarely (1–4%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Rarely (1–4%) | In 1 condition |
| UFM1ubiquitin fold modifier 1 | Rarely (1–4%) | In 1 condition |
| URODuroporphyrinogen decarboxylase | Rarely (1–4%) | In 1 condition |
| UROSuroporphyrinogen III synthase | Rarely (1–4%) | In 1 condition |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Not recorded | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Not recorded | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Not recorded | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Not recorded | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Not recorded | In 1 condition |
| CTC1CST telomere replication complex component 1 | Not recorded | In 1 condition |
| FBN1fibrillin 1 | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Not recorded | In 1 condition |
| GJB2gap junction protein beta 2 | Not recorded | In 1 condition |
| GM2Aganglioside GM2 activator | Not recorded | In 1 condition |
| GNASGNAS complex locus | Not recorded | In 1 condition |
| HEXAhexosaminidase subunit alpha | Not recorded | In 1 condition |
| HEXBhexosaminidase subunit beta | Not recorded | In 1 condition |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Not recorded | In 1 condition |
| KIF14kinesin family member 14 | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| MFSD8major facilitator superfamily domain containing 8 | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Not recorded | In 1 condition |
| PITX3paired like homeodomain 3 | Not recorded | In 1 condition |
| PLGplasminogen | Not recorded | In 1 condition |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PROS1protein S | Not recorded | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Not recorded | In 1 condition |
| SREBF1sterol regulatory element binding transcription factor 1 | Not recorded | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Not recorded | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Not recorded | In 1 condition |
| TMEM67transmembrane protein 67 | 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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