Trait
Babinski sign
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Summary
- Also called
- Extensor plantar reflexes, Extensor plantar response, Extensor plantar responses, Positive Babinski sign
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test313 genes linked to Babinski sign
Changes in these genes cause rare conditions in which Babinski sign 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 |
|---|---|---|
| ABCB7ATP binding cassette subfamily B member 7 | Always | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Always | In 3 conditions |
| AMPD2adenosine monophosphate deaminase 2 | Always | In 1 condition |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Always | In 2 conditions |
| ATG5autophagy related 5 | Always | In 1 condition |
| ATP7AATPase copper transporting alpha | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Always | In 3 conditions |
| CCT5chaperonin containing TCP1 subunit 5 | Always | In 2 conditions |
| CHP1calcineurin like EF-hand protein 1 | Always | In 1 condition |
| CLDN11claudin 11 | Always | In 1 condition |
| CPT1Ccarnitine palmitoyltransferase 1C | Always | In 2 conditions |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Always | In 2 conditions |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Always | In 2 conditions |
| DARS1aspartyl-tRNA synthetase 1 | Always | In 1 condition |
| DSTYKdual serine/threonine and tyrosine protein kinase | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Always | In 1 condition |
| ERLIN2ER lipid raft associated 2 | Always | In 3 conditions |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| GBA2glucosylceramidase beta 2 | Always | In 3 conditions |
| GFAPglial fibrillary acidic protein | Always | In 2 conditions |
| GJC2gap junction protein gamma 2 | Always | In 2 conditions |
| HMBShydroxymethylbilane synthase | Always | In 1 condition |
| HSPD1heat shock protein family D (Hsp60) member 1 | Always | In 3 conditions |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Always | In 1 condition |
| IREB2iron responsive element binding protein 2 | Always | In 1 condition |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Always | In 1 condition |
| KIF1Akinesin family member 1A | Always | In 4 conditions |
| KIF5Akinesin family member 5A | Always | In 2 conditions |
| KLC4kinesin light chain 4 | Always | In 1 condition |
| KPNA3karyopherin subunit alpha 3 | Always | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 1 condition |
| LYRM7LYR motif containing 7 | Always | In 1 condition |
| MAGmyelin associated glycoprotein | Always | In 2 conditions |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Always | In 1 condition |
| NEFHneurofilament heavy chain | Always | In 2 conditions |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Always | In 2 conditions |
Show 273 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Always | In 1 condition |
| PET117PET117 cytochrome c oxidase chaperone | Always | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Always | In 2 conditions |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Always | In 2 conditions |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| REEP1receptor accessory protein 1 | Always | In 1 condition |
| REEP2receptor accessory protein 2 | Always | In 2 conditions |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RTN2reticulon 2 | Always | In 3 conditions |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Always | In 1 condition |
| SELENOIselenoprotein I | Always | In 2 conditions |
| SLC1A4solute carrier family 1 member 4 | Always | In 1 condition |
| SOD1superoxide dismutase 1 | Always | In 2 conditions |
| SPARTspartin | Always | In 2 conditions |
| SPG21SPG21 abhydrolase domain containing, maspardin | Always | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Always | In 2 conditions |
| TANGO2transport and golgi organization 2 homolog | Always | In 2 conditions |
| TFGtrafficking from ER to golgi regulator | Always | In 2 conditions |
| TMEM63Ctransmembrane protein 63C | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Always | In 2 conditions |
| VCPvalosin containing protein | Always | In 4 conditions |
| WASHC5WASH complex subunit 5 | Always | In 2 conditions |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Very often (80–99%) | In 5 conditions |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Very often (80–99%) | In 2 conditions |
| ATL1atlastin GTPase 1 | Very often (80–99%) | In 2 conditions |
| ATP13A2ATPase cation transporting 13A2 | Very often (80–99%) | In 5 conditions |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Very often (80–99%) | In 2 conditions |
| CAPN1calpain 1 | Very often (80–99%) | In 2 conditions |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Very often (80–99%) | In 2 conditions |
| DDHD1DDHD domain containing 1 | Very often (80–99%) | In 2 conditions |
| ERLIN1ER lipid raft associated 1 | Very often (80–99%) | In 1 condition |
| FA2Hfatty acid 2-hydroxylase | Very often (80–99%) | In 2 conditions |
| FXNfrataxin | Very often (80–99%) | In 3 conditions |
| GTPBP2GTP binding protein 2 | Very often (80–99%) | In 1 condition |
| MTPAPmitochondrial poly(A) polymerase | Very often (80–99%) | In 2 conditions |
| NIPA1NIPA magnesium transporter 1 | Very often (80–99%) | In 2 conditions |
| PLP1proteolipid protein 1 | Very often (80–99%) | In 3 conditions |
| RNF170ring finger protein 170 | Very often (80–99%) | In 1 condition |
| SLC33A1solute carrier family 33 member 1 | Very often (80–99%) | In 2 conditions |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Very often (80–99%) | In 3 conditions |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Very often (80–99%) | In 3 conditions |
| TTPAalpha tocopherol transfer protein | Very often (80–99%) | In 1 condition |
| UBAP1ubiquitin associated protein 1 | Very often (80–99%) | In 2 conditions |
| UCHL1ubiquitin C-terminal hydrolase L1 | Very often (80–99%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Often (30–79%) | In 1 condition |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Often (30–79%) | In 1 condition |
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Often (30–79%) | In 1 condition |
| ACOX1acyl-CoA oxidase 1 | Often (30–79%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Often (30–79%) | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Often (30–79%) | In 2 conditions |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Often (30–79%) | In 2 conditions |
| ANGangiogenin | Often (30–79%) | In 1 condition |
| ANXA11annexin A11 | Often (30–79%) | In 2 conditions |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Often (30–79%) | In 2 conditions |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Often (30–79%) | In 2 conditions |
| ARHGAP19Rho GTPase activating protein 19 | Often (30–79%) | In 1 condition |
| ASPAaspartoacylase | Often (30–79%) | In 2 conditions |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Often (30–79%) | In 4 conditions |
| ATXN10ataxin 10 | Often (30–79%) | In 2 conditions |
| ATXN2ataxin 2 | Often (30–79%) | In 2 conditions |
| ATXN3ataxin 3 | Often (30–79%) | In 4 conditions |
| ATXN7ataxin 7 | Often (30–79%) | In 2 conditions |
| C19orf12chromosome 19 open reading frame 12 | Often (30–79%) | In 2 conditions |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 1 condition |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Often (30–79%) | In 2 conditions |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Often (30–79%) | In 1 condition |
| CAV1caveolin 1 | Often (30–79%) | In 1 condition |
| CCNFcyclin F | Often (30–79%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 3 conditions |
| CHMP2Bcharged multivesicular body protein 2B | Often (30–79%) | In 2 conditions |
| COQ4coenzyme Q4 | Often (30–79%) | In 1 condition |
| COQ7coenzyme Q7, hydroxylase | Often (30–79%) | In 1 condition |
| COX20cytochrome c oxidase assembly factor COX20 | Often (30–79%) | In 1 condition |
| CWF19L1CWF19 like cell cycle control factor 1 | Often (30–79%) | In 1 condition |
| DAOD-amino acid oxidase | Often (30–79%) | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 2 conditions |
| DCTN1dynactin subunit 1 | Often (30–79%) | In 1 condition |
| DLATdihydrolipoamide S-acetyltransferase | Often (30–79%) | In 1 condition |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Often (30–79%) | In 2 conditions |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Often (30–79%) | In 1 condition |
| DTYMKdeoxythymidylate kinase | Often (30–79%) | In 1 condition |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| ELOVL1ELOVL fatty acid elongase 1 | Often (30–79%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Often (30–79%) | In 1 condition |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Often (30–79%) | In 1 condition |
| ETHE1ETHE1 persulfide dioxygenase | Often (30–79%) | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 2 conditions |
| FBXO7F-box protein 7 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 2 conditions |
| GALCgalactosylceramidase | Often (30–79%) | In 1 condition |
| GCH1GTP cyclohydrolase 1 | Often (30–79%) | In 2 conditions |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Often (30–79%) | In 2 conditions |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GLRX5glutaredoxin 5 | Often (30–79%) | In 2 conditions |
| GLT8D1glycosyltransferase 8 domain containing 1 | Often (30–79%) | In 1 condition |
| GPT2glutamic--pyruvic transaminase 2 | Often (30–79%) | In 1 condition |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Often (30–79%) | In 1 condition |
| GTPBP1GTP binding protein 1 | Often (30–79%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Often (30–79%) | In 1 condition |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Often (30–79%) | In 1 condition |
| IMPDH2inosine monophosphate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Often (30–79%) | In 1 condition |
| JAM2junctional adhesion molecule 2 | Often (30–79%) | In 1 condition |
| KIF1Ckinesin family member 1C | Often (30–79%) | In 2 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 1 condition |
| LMNB1lamin B1 | Often (30–79%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Often (30–79%) | In 2 conditions |
| MATR3matrin 3 | Often (30–79%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Often (30–79%) | In 3 conditions |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 3 conditions |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Often (30–79%) | In 1 condition |
| MTRFRmitochondrial translation release factor in rescue | Often (30–79%) | In 2 conditions |
| NDE1nudE neurodevelopment protein 1 | Often (30–79%) | In 1 condition |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 1 condition |
| NOP56NOP56 ribonucleoprotein | Often (30–79%) | In 2 conditions |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Often (30–79%) | In 1 condition |
| NUP54nucleoporin 54 | Often (30–79%) | In 1 condition |
| NUP62nucleoporin 62 | Often (30–79%) | In 1 condition |
| OPTNoptineurin | Often (30–79%) | In 1 condition |
| PDYNprodynorphin | Often (30–79%) | In 2 conditions |
| PFN1profilin 1 | Often (30–79%) | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Often (30–79%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Often (30–79%) | In 1 condition |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Often (30–79%) | In 3 conditions |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Often (30–79%) | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 2 conditions |
| POLR3BRNA polymerase III subunit B | Often (30–79%) | In 2 conditions |
| PRKNparkin RBR E3 ubiquitin protein ligase | Often (30–79%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Often (30–79%) | In 1 condition |
| PRPHperipherin | Often (30–79%) | In 1 condition |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Often (30–79%) | In 1 condition |
| RFC1replication factor C subunit 1 | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SACSsacsin molecular chaperone | Often (30–79%) | In 2 conditions |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 3 conditions |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Often (30–79%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SETXsenataxin | Often (30–79%) | In 3 conditions |
| SHMT2serine hydroxymethyltransferase 2 | Often (30–79%) | In 1 condition |
| SIGMAR1sigma receptor chaperone 1 | Often (30–79%) | In 1 condition |
| SLC19A3solute carrier family 19 member 3 | Often (30–79%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 2 conditions |
| SLC44A1solute carrier family 44 member 1 | Often (30–79%) | In 1 condition |
| SNCAsynuclein alpha | Often (30–79%) | In 1 condition |
| SPASTspastin | Often (30–79%) | In 2 conditions |
| SQSTM1sequestosome 1 | Often (30–79%) | In 2 conditions |
| STUB1STIP1 homology and U-box containing protein 1 | Often (30–79%) | In 2 conditions |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| TAF15TATA-box binding protein associated factor 15 | Often (30–79%) | In 1 condition |
| TAF2TATA-box binding protein associated factor 2 | Often (30–79%) | In 2 conditions |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 3 conditions |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 2 conditions |
| TGM6transglutaminase 6 | Often (30–79%) | In 2 conditions |
| THtyrosine hydroxylase | Often (30–79%) | In 1 condition |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Often (30–79%) | In 1 condition |
| TPP1tripeptidyl peptidase 1 | Often (30–79%) | In 2 conditions |
| TREM2triggering receptor expressed on myeloid cells 2 | Often (30–79%) | In 3 conditions |
| TRMT5tRNA methyltransferase 5 | Often (30–79%) | In 1 condition |
| TSPOAP1TSPO associated protein 1 | Often (30–79%) | In 2 conditions |
| TUBA4Atubulin alpha 4a | Often (30–79%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 2 conditions |
| UBQLN2ubiquilin 2 | Often (30–79%) | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Often (30–79%) | In 1 condition |
| UNC13Aunc-13 homolog A | Often (30–79%) | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Often (30–79%) | In 1 condition |
| VAPBVAMP associated protein B and C | Often (30–79%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Often (30–79%) | In 1 condition |
| ZFRzinc finger RNA binding protein | Often (30–79%) | In 1 condition |
| ZFYVE26zinc finger FYVE-type containing 26 | Often (30–79%) | In 2 conditions |
| ADPRSADP-ribosylserine hydrolase | Sometimes (5–29%) | In 1 condition |
| ANO10anoctamin 10 | Sometimes (5–29%) | In 1 condition |
| ARSAarylsulfatase A | Sometimes (5–29%) | In 4 conditions |
| ARXaristaless related homeobox | Sometimes (5–29%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Sometimes (5–29%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COX18cytochrome c oxidase assembly factor COX18 | Sometimes (5–29%) | In 1 condition |
| DDCdopa decarboxylase | Sometimes (5–29%) | In 2 conditions |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Sometimes (5–29%) | In 1 condition |
| DNMT1DNA methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EEF2eukaryotic translation elongation factor 2 | Sometimes (5–29%) | In 1 condition |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Sometimes (5–29%) | In 1 condition |
| FGF13fibroblast growth factor 13 | Sometimes (5–29%) | In 1 condition |
| GANgigaxonin | Sometimes (5–29%) | In 1 condition |
| GJB1gap junction protein beta 1 | Sometimes (5–29%) | In 2 conditions |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Sometimes (5–29%) | In 1 condition |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Sometimes (5–29%) | In 1 condition |
| HTThuntingtin | Sometimes (5–29%) | In 1 condition |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sometimes (5–29%) | In 2 conditions |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Sometimes (5–29%) | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Sometimes (5–29%) | In 1 condition |
| KLC2kinesin light chain 2 | Sometimes (5–29%) | In 1 condition |
| KYkyphoscoliosis peptidase | Sometimes (5–29%) | In 1 condition |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Sometimes (5–29%) | In 1 condition |
| MFN2mitofusin 2 | Sometimes (5–29%) | In 2 conditions |
| MPZmyelin protein zero | Sometimes (5–29%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Sometimes (5–29%) | In 1 condition |
| PANK2pantothenate kinase 2 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Sometimes (5–29%) | In 1 condition |
| PMP22peripheral myelin protein 22 | Sometimes (5–29%) | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 5 conditions |
| RAB3ARAB3A, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RARS1arginyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| SAMD9Lsterile alpha motif domain containing 9 like | Sometimes (5–29%) | In 2 conditions |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Sometimes (5–29%) | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Sometimes (5–29%) | In 2 conditions |
| SLC25A46solute carrier family 25 member 46 | Sometimes (5–29%) | In 1 condition |
| SLC2A3solute carrier family 2 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC9A7solute carrier family 9 member A7 | Sometimes (5–29%) | In 1 condition |
| SNX14sorting nexin 14 | Sometimes (5–29%) | In 2 conditions |
| TBC1D20TBC1 domain family member 20 | Sometimes (5–29%) | In 1 condition |
| TMEM63Atransmembrane protein 63A | Sometimes (5–29%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Sometimes (5–29%) | In 2 conditions |
| TSEN34tRNA splicing endonuclease subunit 34 | Sometimes (5–29%) | In 1 condition |
| TSEN54tRNA splicing endonuclease subunit 54 | Sometimes (5–29%) | In 1 condition |
| TTC19tetratricopeptide repeat domain 19 | Sometimes (5–29%) | In 1 condition |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Sometimes (5–29%) | In 1 condition |
| UGDHUDP-glucose 6-dehydrogenase | Sometimes (5–29%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| FTLferritin light chain | Rarely (1–4%) | In 2 conditions |
| AAASaladin WD repeat nucleoporin | Not recorded | In 1 condition |
| ADGRG1adhesion G protein-coupled receptor G1 | Not recorded | In 1 condition |
| APOEapolipoprotein E | Not recorded | In 1 condition |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Not recorded | In 1 condition |
| ATXN1ataxin 1 | Not recorded | In 1 condition |
| BRAT1BRCA1 associated ATM activator 1 | Not recorded | In 1 condition |
| CNTNAP1contactin associated protein 1 | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| COXFA4cytochrome c oxidase associated subunit FA4 | Not recorded | In 1 condition |
| CTDP1CTD phosphatase 1 | Not recorded | In 1 condition |
| CTSFcathepsin F | Not recorded | In 1 condition |
| DDHD2DDHD domain containing 2 | Not recorded | In 1 condition |
| DEGS1delta 4-desaturase, sphingolipid 1 | Not recorded | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Not recorded | In 1 condition |
| HTRA1HtrA serine peptidase 1 | Not recorded | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Not recorded | In 1 condition |
| KDM5Clysine demethylase 5C | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MCOLN1mucolipin TRP cation channel 1 | Not recorded | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Not recorded | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Not recorded | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Not recorded | In 1 condition |
| NEFLneurofilament light chain | Not recorded | In 1 condition |
| NFASCneurofascin | Not recorded | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Not recorded | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Not recorded | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Not recorded | In 1 condition |
| PLA2G6phospholipase A2 group VI | Not recorded | In 1 condition |
| PRICKLE1prickle planar cell polarity protein 1 | Not recorded | In 1 condition |
| PRSS12serine protease 12 | Not recorded | In 1 condition |
| PSEN1presenilin 1 | Not recorded | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Not recorded | In 1 condition |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Not recorded | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Not recorded | In 1 condition |
| ZFHX3zinc finger homeobox 3 | 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.
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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