Trait
Optic disc pallor
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Summary
- Also called
- Pale optic disc
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test271 genes linked to Optic disc pallor
Changes in these genes cause rare conditions in which Optic disc pallor 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Always | In 1 condition |
| ACO2aconitase 2 | Always | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 1 condition |
| ARL13BARF like GTPase 13B | Always | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Always | In 1 condition |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Always | In 2 conditions |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Always | In 2 conditions |
| DNM1Ldynamin 1L | Always | In 2 conditions |
| FDXRferredoxin reductase | Always | In 1 condition |
| GNAT1G protein subunit alpha transducin 1 | Always | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Always | In 1 condition |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Always | In 2 conditions |
| IDH3Gisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma | Always | In 1 condition |
| IFT172intraflagellar transport 172 | Always | In 2 conditions |
| IFT43intraflagellar transport 43 | Always | In 2 conditions |
| IMPDH1inosine monophosphate dehydrogenase 1 | Always | In 3 conditions |
| ITM2Bintegral membrane protein 2B | Always | In 1 condition |
| KIF5Akinesin family member 5A | Always | In 1 condition |
| KLC4kinesin light chain 4 | Always | In 1 condition |
| MCATmalonyl-CoA-acyl carrier protein transacylase | Always | In 1 condition |
| MFRPmembrane frizzled-related protein | Always | In 1 condition |
| MIEF1mitochondrial elongation factor 1 | Always | In 1 condition |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Always | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Always | In 2 conditions |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Always | In 2 conditions |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| OTX2orthodenticle homeobox 2 | Always | In 3 conditions |
| PDE6Aphosphodiesterase 6A | Always | In 2 conditions |
| PDXKpyridoxal kinase | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PROM1prominin 1 | Always | In 3 conditions |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Always | In 1 condition |
| RIMS2regulating synaptic membrane exocytosis 2 | Always | In 1 condition |
| RP1RP1 axonemal microtubule associated | Always | In 2 conditions |
| RP1L1RP1 like 1 | Always | In 2 conditions |
| RTN4IP1reticulon 4 interacting protein 1 | Always | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Always | In 2 conditions |
| SDHDsuccinate dehydrogenase complex subunit D | Always | In 1 condition |
Show 231 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TBC1D32TBC1 domain family member 32 | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| UBAP1Lubiquitin associated protein 1 like | Always | In 2 conditions |
| USP45ubiquitin specific peptidase 45 | Always | In 2 conditions |
| VPS41VPS41 subunit of HOPS complex | Always | In 1 condition |
| ZNF408zinc finger protein 408 | Always | In 2 conditions |
| ZNF513zinc finger protein 513 | Always | In 2 conditions |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 1 condition |
| CRB1crumbs cell polarity complex component 1 | Very often (80–99%) | In 3 conditions |
| ESPNespin | Very often (80–99%) | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Very often (80–99%) | In 1 condition |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Very often (80–99%) | In 2 conditions |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Very often (80–99%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Very often (80–99%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Very often (80–99%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Very often (80–99%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Very often (80–99%) | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Very often (80–99%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Very often (80–99%) | In 1 condition |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Very often (80–99%) | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Very often (80–99%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Very often (80–99%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Very often (80–99%) | In 2 conditions |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Very often (80–99%) | In 1 condition |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Very often (80–99%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Very often (80–99%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Very often (80–99%) | In 2 conditions |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Very often (80–99%) | In 2 conditions |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Very often (80–99%) | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Very often (80–99%) | In 1 condition |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Very often (80–99%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Very often (80–99%) | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Very often (80–99%) | In 1 condition |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Very often (80–99%) | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Very often (80–99%) | In 1 condition |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Very often (80–99%) | In 2 conditions |
| RAX2retina and anterior neural fold homeobox 2 | Very often (80–99%) | In 2 conditions |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Very often (80–99%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Very often (80–99%) | In 1 condition |
| ABCA4ATP binding cassette subfamily A member 4 | Often (30–79%) | In 4 conditions |
| ADAM9ADAM metallopeptidase domain 9 | Often (30–79%) | In 1 condition |
| AGBL5AGBL carboxypeptidase 5 | Often (30–79%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Often (30–79%) | In 1 condition |
| AHRaryl hydrocarbon receptor | Often (30–79%) | In 1 condition |
| AIPL1AIP like 1 HSP90 co-chaperone | Often (30–79%) | In 3 conditions |
| ALMS1ALMS1 centrosome and basal body associated protein | Often (30–79%) | In 3 conditions |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Often (30–79%) | In 1 condition |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Often (30–79%) | In 2 conditions |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| ARL2BPARF like GTPase 2 binding protein | Often (30–79%) | In 2 conditions |
| ARL3ARF like GTPase 3 | Often (30–79%) | In 1 condition |
| ARL6ARF like GTPase 6 | Often (30–79%) | In 1 condition |
| ATF6activating transcription factor 6 | Often (30–79%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Often (30–79%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Often (30–79%) | In 2 conditions |
| BEST1bestrophin 1 | Often (30–79%) | In 2 conditions |
| CA4carbonic anhydrase 4 | Often (30–79%) | In 1 condition |
| CABP4calcium binding protein 4 | Often (30–79%) | In 2 conditions |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Often (30–79%) | In 2 conditions |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Often (30–79%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 1 condition |
| CDHR1cadherin related family member 1 | Often (30–79%) | In 2 conditions |
| CERKLCERK like autophagy regulator | Often (30–79%) | In 2 conditions |
| CFAP20cilia and flagella associated protein 20 | Often (30–79%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Often (30–79%) | In 3 conditions |
| CLDN11claudin 11 | Often (30–79%) | In 1 condition |
| CLN8CLN8 transmembrane ER and ERGIC protein | Often (30–79%) | In 1 condition |
| CLRN1clarin 1 | Often (30–79%) | In 1 condition |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Often (30–79%) | In 1 condition |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Often (30–79%) | In 1 condition |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Often (30–79%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Often (30–79%) | In 1 condition |
| COQ8Bcoenzyme Q8B | Often (30–79%) | In 1 condition |
| CRXcone-rod homeobox | Often (30–79%) | In 3 conditions |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Often (30–79%) | In 2 conditions |
| DARS1aspartyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| DHX38DEAH-box helicase 38 | Often (30–79%) | In 1 condition |
| DRAM2DNA damage regulated autophagy modulator 2 | Often (30–79%) | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Often (30–79%) | In 1 condition |
| EXOC8exocyst complex component 8 | Often (30–79%) | In 1 condition |
| EYSEGF-like photoreceptor maintenance factor | Often (30–79%) | In 2 conditions |
| FAM161AFAM161 centrosomal protein A | Often (30–79%) | In 2 conditions |
| FANCIFA complementation group I | Often (30–79%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Often (30–79%) | In 1 condition |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Often (30–79%) | In 1 condition |
| 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 3 conditions |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Often (30–79%) | In 1 condition |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Often (30–79%) | In 1 condition |
| GUCA1Aguanylate cyclase activator 1A | Often (30–79%) | In 1 condition |
| GUCA1Bguanylate cyclase activator 1B | Often (30–79%) | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Often (30–79%) | In 2 conditions |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Often (30–79%) | In 2 conditions |
| HKDC1hexokinase domain containing 1 | Often (30–79%) | In 1 condition |
| HLA-Amajor histocompatibility complex, class I, A | Often (30–79%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| IFT140intraflagellar transport 140 | Often (30–79%) | In 2 conditions |
| IFT88intraflagellar transport 88 | Often (30–79%) | In 1 condition |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Often (30–79%) | In 1 condition |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Often (30–79%) | In 3 conditions |
| KIAA1549KIAA1549 | Often (30–79%) | In 2 conditions |
| KIZkizuna centrosomal protein | Often (30–79%) | In 1 condition |
| KLC2kinesin light chain 2 | Often (30–79%) | In 2 conditions |
| KLHL7kelch like family member 7 | Often (30–79%) | In 1 condition |
| LCA5lebercilin LCA5 | Often (30–79%) | In 2 conditions |
| LRATlecithin retinol acyltransferase | Often (30–79%) | In 4 conditions |
| LYRM7LYR motif containing 7 | Often (30–79%) | In 1 condition |
| MAKmale germ cell associated kinase | Often (30–79%) | In 2 conditions |
| MAPKAPK5MAPK activated protein kinase 5 | Often (30–79%) | In 1 condition |
| MERTKMER proto-oncogene, tyrosine kinase | Often (30–79%) | In 2 conditions |
| MFFmitochondrial fission factor | Often (30–79%) | In 2 conditions |
| MFSD8major facilitator superfamily domain containing 8 | Often (30–79%) | In 2 conditions |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 1 condition |
| MTFMTmitochondrial methionyl-tRNA formyltransferase | Often (30–79%) | In 1 condition |
| MVKmevalonate kinase | Often (30–79%) | In 2 conditions |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Often (30–79%) | In 1 condition |
| NEK2NIMA related kinase 2 | Often (30–79%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 4 conditions |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Often (30–79%) | In 1 condition |
| NRLneural retina leucine zipper | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Often (30–79%) | In 1 condition |
| OPN1LWopsin 1, long wave sensitive | Often (30–79%) | In 1 condition |
| OPN1MWopsin 1, medium wave sensitive | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| PANK2pantothenate kinase 2 | Often (30–79%) | In 1 condition |
| PCAREphotoreceptor cilium actin regulator | Often (30–79%) | In 1 condition |
| PDE6Bphosphodiesterase 6B | Often (30–79%) | In 1 condition |
| PDE6Gphosphodiesterase 6G | Often (30–79%) | In 2 conditions |
| PITPNM3PITPNM family member 3 | Often (30–79%) | In 1 condition |
| POC1BPOC1 centriolar protein B | Often (30–79%) | In 2 conditions |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 1 condition |
| PRCDphotoreceptor disc component | Often (30–79%) | In 2 conditions |
| PRPF3pre-mRNA processing factor 3 | Often (30–79%) | In 1 condition |
| PRPF31pre-mRNA processing factor 31 | Often (30–79%) | In 2 conditions |
| PRPF6pre-mRNA processing factor 6 | Often (30–79%) | In 2 conditions |
| PRPF8pre-mRNA processing factor 8 | Often (30–79%) | In 1 condition |
| PRPH2peripherin 2 | Often (30–79%) | In 4 conditions |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Often (30–79%) | In 1 condition |
| RAB28RAB28, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RBP3retinol binding protein 3 | Often (30–79%) | In 2 conditions |
| RDH12retinol dehydrogenase 12 | Often (30–79%) | In 3 conditions |
| 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 |
| RIMS1regulating synaptic membrane exocytosis 1 | 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 |
| 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 4 conditions |
| RPGRretinitis pigmentosa GTPase regulator | Often (30–79%) | In 2 conditions |
| RPGRIP1RPGR interacting protein 1 | Often (30–79%) | In 4 conditions |
| SAGS-antigen visual arrestin | Often (30–79%) | In 1 condition |
| SAXO6stabilizer of axonemal microtubules 6 | Often (30–79%) | In 1 condition |
| SEMA4Asemaphorin 4A | Often (30–79%) | In 2 conditions |
| SLC7A14solute carrier family 7 member 14 | Often (30–79%) | In 1 condition |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Often (30–79%) | In 2 conditions |
| SPATA7spermatogenesis associated 7 | Often (30–79%) | In 3 conditions |
| STX3syntaxin 3 | Often (30–79%) | In 1 condition |
| TLCD3BTLC domain containing 3B | 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 |
| TRNT1tRNA nucleotidyl transferase 1 | Often (30–79%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Often (30–79%) | In 1 condition |
| TTLL5tubulin tyrosine ligase like 5 | Often (30–79%) | In 1 condition |
| TUBTUB bipartite transcription factor | Often (30–79%) | In 1 condition |
| TULP1TUB like protein 1 | Often (30–79%) | In 4 conditions |
| UNC119unc-119 lipid binding chaperone | Often (30–79%) | In 1 condition |
| USH2Ausherin | Often (30–79%) | In 1 condition |
| VSX1visual system homeobox 1 | Often (30–79%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Often (30–79%) | In 1 condition |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sometimes (5–29%) | In 1 condition |
| GDF6growth differentiation factor 6 | Sometimes (5–29%) | In 1 condition |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Sometimes (5–29%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 1 condition |
| IQCB1IQ motif containing B1 | Sometimes (5–29%) | In 1 condition |
| JAM3junctional adhesion molecule 3 | Sometimes (5–29%) | In 1 condition |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 2 conditions |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Sometimes (5–29%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Sometimes (5–29%) | In 1 condition |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Sometimes (5–29%) | In 1 condition |
| PLK4polo like kinase 4 | Sometimes (5–29%) | In 1 condition |
| PRORPprotein only RNase P catalytic subunit | Sometimes (5–29%) | In 1 condition |
| RD3RD3 regulator of GUCY2D | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| SMG8SMG8 nonsense mediated mRNA decay factor | Sometimes (5–29%) | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sometimes (5–29%) | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| TASP1taspase 1 | Sometimes (5–29%) | In 1 condition |
| TMEM106Btransmembrane protein 106B | Sometimes (5–29%) | In 1 condition |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 1 condition |
| TPI1triosephosphate isomerase 1 | Sometimes (5–29%) | In 1 condition |
| TUBB4Btubulin beta 4B class IVb | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Rarely (1–4%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rarely (1–4%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Rarely (1–4%) | In 1 condition |
| NGLY1N-glycanase 1 | Rarely (1–4%) | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Not recorded | In 1 condition |
| ATXN1ataxin 1 | Not recorded | In 1 condition |
| BLOC1S3biogenesis of lysosomal organelles complex 1 subunit 3 | Not recorded | In 1 condition |
| CLCC1chloride channel CLIC like 1 | Not recorded | In 1 condition |
| HK1hexokinase 1 | Not recorded | In 1 condition |
| MFN2mitofusin 2 | Not recorded | In 2 conditions |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Not recorded | In 1 condition |
| PISDphosphatidylserine decarboxylase | Not recorded | In 1 condition |
| TMEM126Atransmembrane protein 126A | Not recorded | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | Not recorded | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | 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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