Trait
Degeneration of cerebellum
Clinical name: Cerebellar atrophy
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Summary
- Also called
- Atrophic cerebellum
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Degeneration of cerebellum 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 2 conditions |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 3 conditions |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Always | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 2 conditions |
| ANO10anoctamin 10 | Always | In 2 conditions |
| APTXaprataxin | Always | In 2 conditions |
| ARG1arginase 1 | Always | In 1 condition |
| ATCAYATCAY kinesin light chain interacting caytaxin | Always | In 1 condition |
| ATP2B3ATPase plasma membrane Ca2+ transporting 3 | Always | In 1 condition |
| ATP8A2ATPase phospholipid transporting 8A2 | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| BRAT1BRCA1 associated ATM activator 1 | Always | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Always | In 3 conditions |
| CAPN1calpain 1 | Always | In 1 condition |
| CAPRIN1cell cycle associated protein 1 | Always | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| CERS1ceramide synthase 1 | Always | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Always | In 1 condition |
| CLN5CLN5 lysosomal BMP synthase | Always | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Always | In 1 condition |
| COG8component of oligomeric golgi complex 8 | Always | In 2 conditions |
| COL18A1collagen type XVIII alpha 1 chain | Always | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Always | In 1 condition |
| COQ8Acoenzyme Q8A | Always | In 2 conditions |
| COQ9coenzyme Q9 | Always | In 1 condition |
| COX4I1cytochrome c oxidase subunit 4I1 | Always | In 1 condition |
| CRATcarnitine O-acetyltransferase | Always | In 1 condition |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Always | In 1 condition |
| CST3cystatin C | Always | In 1 condition |
| CTSDcathepsin D | Always | In 1 condition |
| CWF19L1CWF19 like cell cycle control factor 1 | Always | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Always | In 2 conditions |
| DHX9DExH-box helicase 9 | Always | In 1 condition |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Always | In 2 conditions |
| DNM1Ldynamin 1L | Always | In 3 conditions |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Always | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Always | In 1 condition |
| EXOSC5exosome component 5 | Always | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
Show 408 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FAT2FAT atypical cadherin 2 | Always | In 1 condition |
| FGF12fibroblast growth factor 12 | Always | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Always | In 1 condition |
| GBA2glucosylceramidase beta 2 | Always | In 2 conditions |
| GDAP2ganglioside induced differentiation associated protein 2 | Always | In 1 condition |
| GEMIN5gem nuclear organelle associated protein 5 | Always | In 1 condition |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Always | In 1 condition |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Always | In 2 conditions |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Always | In 1 condition |
| GRM1glutamate metabotropic receptor 1 | Always | In 2 conditions |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| GTPBP1GTP binding protein 1 | Always | In 1 condition |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| HMBShydroxymethylbilane synthase | Always | In 1 condition |
| INTS11integrator complex subunit 11 | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 5 conditions |
| KCNC3potassium voltage-gated channel subfamily C member 3 | Always | In 2 conditions |
| KCND3potassium voltage-gated channel subfamily D member 3 | Always | In 2 conditions |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Always | In 2 conditions |
| KCTD7potassium channel tetramerization domain containing 7 | Always | In 2 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| LIPT1lipoyltransferase 1 | Always | In 1 condition |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| MGME1mitochondrial genome maintenance exonuclease 1 | Always | In 2 conditions |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Always | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| MRM2mitochondrial rRNA methyltransferase 2 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| MVKmevalonate kinase | Always | In 1 condition |
| NADK2NAD kinase 2, mitochondrial | Always | In 2 conditions |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Always | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Always | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Always | In 1 condition |
| NOP56NOP56 ribonucleoprotein | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Always | In 1 condition |
| PCNAproliferating cell nuclear antigen | Always | In 2 conditions |
| PDYNprodynorphin | Always | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Always | In 1 condition |
| PLA2G6phospholipase A2 group VI | Always | In 3 conditions |
| PNKPpolynucleotide kinase 3'-phosphatase | Always | In 3 conditions |
| PNPLA6patatin like domain 6, lysophospholipase | Always | In 3 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Always | In 4 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Always | In 3 conditions |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| POLR3BRNA polymerase III subunit B | Always | In 3 conditions |
| POLR3KRNA polymerase III subunit K | Always | In 1 condition |
| PRDX3peroxiredoxin 3 | Always | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Always | In 1 condition |
| RAB3ARAB3A, member RAS oncogene family | Always | In 1 condition |
| REPS1RALBP1 associated Eps domain containing 1 | Always | In 1 condition |
| SAMD9Lsterile alpha motif domain containing 9 like | Always | In 3 conditions |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Always | In 2 conditions |
| SETXsenataxin | Always | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Always | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Always | In 2 conditions |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
| SLC33A1solute carrier family 33 member 1 | Always | In 1 condition |
| SLC39A8solute carrier family 39 member 8 | Always | In 2 conditions |
| SNF8SNF8 subunit of ESCRT-II | Always | In 2 conditions |
| SOD1superoxide dismutase 1 | Always | In 1 condition |
| SPG21SPG21 abhydrolase domain containing, maspardin | Always | In 1 condition |
| SPTBN2spectrin beta, non-erythrocytic 2 | Always | In 4 conditions |
| SRPK3SRSF protein kinase 3 | Always | In 1 condition |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Always | In 2 conditions |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Always | In 2 conditions |
| STUB1STIP1 homology and U-box containing protein 1 | Always | In 3 conditions |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Always | In 2 conditions |
| SYT14synaptotagmin 14 | Always | In 2 conditions |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Always | In 1 condition |
| TEFMtranscription elongation factor, mitochondrial | Always | In 1 condition |
| TGM6transglutaminase 6 | Always | In 2 conditions |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Always | In 2 conditions |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| TPP1tripeptidyl peptidase 1 | Always | In 2 conditions |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Always | In 1 condition |
| TRMT1tRNA methyltransferase 1 | Always | In 1 condition |
| TSPOAP1TSPO associated protein 1 | Always | In 1 condition |
| TTBK2tau tubulin kinase 2 | Always | In 1 condition |
| TTPAalpha tocopherol transfer protein | Always | In 2 conditions |
| UBA5ubiquitin like modifier activating enzyme 5 | Always | In 2 conditions |
| VPS53VPS53 subunit of GARP complex | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 3 conditions |
| WDR73WD repeat domain 73 | Always | In 1 condition |
| WDR81WD repeat domain 81 | Always | In 1 condition |
| XRCC1X-ray repair cross complementing 1 | Always | In 1 condition |
| ZIC2Zic family zinc finger 2 | Always | In 1 condition |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Very often (80–99%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Very often (80–99%) | In 2 conditions |
| BEAN1brain expressed associated with NEDD4 1 | Very often (80–99%) | In 2 conditions |
| CLN8CLN8 transmembrane ER and ERGIC protein | Very often (80–99%) | In 3 conditions |
| CLPBClpB family mitochondrial disaggregase | Very often (80–99%) | In 3 conditions |
| MED27mediator complex subunit 27 | Very often (80–99%) | In 1 condition |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Very often (80–99%) | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Very often (80–99%) | In 1 condition |
| RFC1replication factor C subunit 1 | Very often (80–99%) | In 1 condition |
| RNF216ring finger protein 216 | Very often (80–99%) | In 1 condition |
| SNX14sorting nexin 14 | Very often (80–99%) | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Very often (80–99%) | In 2 conditions |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Often (30–79%) | In 1 condition |
| ACO2aconitase 2 | Often (30–79%) | In 1 condition |
| ADPRSADP-ribosylserine hydrolase | Often (30–79%) | In 1 condition |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Often (30–79%) | In 1 condition |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Often (30–79%) | In 2 conditions |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Often (30–79%) | In 2 conditions |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Often (30–79%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Often (30–79%) | In 2 conditions |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Often (30–79%) | In 2 conditions |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Often (30–79%) | In 1 condition |
| ATXN1ataxin 1 | Often (30–79%) | In 1 condition |
| ATXN10ataxin 10 | Often (30–79%) | In 2 conditions |
| ATXN2ataxin 2 | Often (30–79%) | In 1 condition |
| ATXN3ataxin 3 | Often (30–79%) | In 4 conditions |
| ATXN7ataxin 7 | Often (30–79%) | In 1 condition |
| ATXN8ataxin 8 | Often (30–79%) | In 2 conditions |
| ATXN8OSATXN8 opposite strand lncRNA | Often (30–79%) | In 2 conditions |
| BCAP31B cell receptor associated protein 31 | Often (30–79%) | In 3 conditions |
| BCAS3BCAS3 microtubule associated cell migration factor | Often (30–79%) | In 1 condition |
| BCORL1BCL6 corepressor like 1 | Often (30–79%) | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Often (30–79%) | In 1 condition |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Often (30–79%) | In 2 conditions |
| CCT3chaperonin containing TCP1 subunit 3 | Often (30–79%) | In 1 condition |
| CDC42cell division cycle 42 | Often (30–79%) | In 2 conditions |
| CILK1ciliogenesis associated kinase 1 | Often (30–79%) | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Often (30–79%) | In 2 conditions |
| COQ4coenzyme Q4 | Often (30–79%) | In 2 conditions |
| COQ5coenzyme Q5, methyltransferase | Often (30–79%) | In 1 condition |
| COX18cytochrome c oxidase assembly factor COX18 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 1 condition |
| EEF2eukaryotic translation elongation factor 2 | Often (30–79%) | In 2 conditions |
| ELOVL4ELOVL fatty acid elongase 4 | Often (30–79%) | In 1 condition |
| ELOVL5ELOVL fatty acid elongase 5 | Often (30–79%) | In 1 condition |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 1 condition |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Often (30–79%) | In 1 condition |
| EXOSC2exosome component 2 | Often (30–79%) | In 1 condition |
| EXOSC9exosome component 9 | Often (30–79%) | In 1 condition |
| FA2Hfatty acid 2-hydroxylase | Often (30–79%) | In 3 conditions |
| FCSKfucose kinase | Often (30–79%) | In 1 condition |
| FDXRferredoxin reductase | Often (30–79%) | In 2 conditions |
| FGF14fibroblast growth factor 14 | Often (30–79%) | In 3 conditions |
| FKRPfukutin related protein | Often (30–79%) | In 2 conditions |
| FKTNfukutin | Often (30–79%) | In 1 condition |
| FTH1ferritin heavy chain 1 | Often (30–79%) | In 1 condition |
| GFAPglial fibrillary acidic protein | Often (30–79%) | In 1 condition |
| GLSglutaminase | Often (30–79%) | In 1 condition |
| GNSglucosamine (N-acetyl)-6-sulfatase | Often (30–79%) | In 1 condition |
| GRM7glutamate metabotropic receptor 7 | Often (30–79%) | In 2 conditions |
| GRNgranulin precursor | Often (30–79%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 2 conditions |
| IFIH1interferon induced with helicase C domain 1 | Often (30–79%) | In 1 condition |
| KAT5lysine acetyltransferase 5 | Often (30–79%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Often (30–79%) | In 2 conditions |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Often (30–79%) | In 2 conditions |
| KIF1Akinesin family member 1A | Often (30–79%) | In 3 conditions |
| LAGE3L antigen family member 3 | Often (30–79%) | In 1 condition |
| LIG3DNA ligase 3 | Often (30–79%) | In 1 condition |
| LNPKlunapark, ER junction formation factor | Often (30–79%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Often (30–79%) | In 3 conditions |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MED11mediator complex subunit 11 | Often (30–79%) | In 1 condition |
| MFFmitochondrial fission factor | Often (30–79%) | In 2 conditions |
| MRE11MRE11 double strand break repair nuclease | Often (30–79%) | In 2 conditions |
| MTHFSmethenyltetrahydrofolate synthetase | Often (30–79%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Often (30–79%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Often (30–79%) | In 1 condition |
| NDUFA13NADH:ubiquinone oxidoreductase subunit A13 | Often (30–79%) | In 1 condition |
| NGLY1N-glycanase 1 | Often (30–79%) | In 1 condition |
| NKX6-2NK6 homeobox 2 | Often (30–79%) | In 2 conditions |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 1 condition |
| NPTX1neuronal pentraxin 1 | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 2 conditions |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Often (30–79%) | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Often (30–79%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Often (30–79%) | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Often (30–79%) | In 2 conditions |
| PITRM1pitrilysin metallopeptidase 1 | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| PMPCApeptidase, mitochondrial processing subunit alpha | Often (30–79%) | In 1 condition |
| PMPCBpeptidase, mitochondrial processing subunit beta | Often (30–79%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Often (30–79%) | In 2 conditions |
| PRUNE1prune exopolyphosphatase 1 | Often (30–79%) | In 2 conditions |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Often (30–79%) | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| RBL2RB transcriptional corepressor like 2 | Often (30–79%) | In 1 condition |
| RCC1regulator of chromosome condensation 1 | Often (30–79%) | In 1 condition |
| RFC4replication factor C subunit 4 | Often (30–79%) | In 1 condition |
| RNASEH1ribonuclease H1 | Often (30–79%) | In 1 condition |
| RNU12RNA, U12 small nuclear | Often (30–79%) | In 1 condition |
| RTTNrotatin | Often (30–79%) | In 2 conditions |
| RUBCNrubicon autophagy regulator | Often (30–79%) | In 1 condition |
| SACSsacsin molecular chaperone | Often (30–79%) | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Often (30–79%) | In 1 condition |
| SLC13A3solute carrier family 13 member 3 | Often (30–79%) | In 1 condition |
| SLC19A1solute carrier family 19 member 1 | Often (30–79%) | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Often (30–79%) | In 2 conditions |
| SLC35A2solute carrier family 35 member A2 | Often (30–79%) | In 1 condition |
| SLC35B2solute carrier family 35 member B2 | 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 |
| SLC5A6solute carrier family 5 member 6 | Often (30–79%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 2 conditions |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Often (30–79%) | In 1 condition |
| SNUPNsnurportin 1 | Often (30–79%) | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Often (30–79%) | In 2 conditions |
| SQSTM1sequestosome 1 | Often (30–79%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Often (30–79%) | In 1 condition |
| TBCDtubulin folding cofactor D | Often (30–79%) | In 2 conditions |
| TBCEtubulin folding cofactor E | Often (30–79%) | In 2 conditions |
| TBPTATA-box binding protein | Often (30–79%) | In 2 conditions |
| TMEM240transmembrane protein 240 | Often (30–79%) | In 1 condition |
| TMX2thioredoxin related transmembrane protein 2 | Often (30–79%) | In 1 condition |
| TTC19tetratricopeptide repeat domain 19 | Often (30–79%) | In 1 condition |
| TUBA4Atubulin alpha 4a | Often (30–79%) | In 1 condition |
| UBTFupstream binding transcription factor | Often (30–79%) | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Often (30–79%) | In 1 condition |
| VARS1valyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Often (30–79%) | In 1 condition |
| VPS50VPS50 subunit of EARP/GARPII complex | Often (30–79%) | In 1 condition |
| WDR45WD repeat domain 45 | Often (30–79%) | In 2 conditions |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Often (30–79%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Often (30–79%) | In 2 conditions |
| ABAT4-aminobutyrate aminotransferase | Sometimes (5–29%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Sometimes (5–29%) | In 1 condition |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| ARCN1archain 1 coat protein complex I subunit delta | Sometimes (5–29%) | In 1 condition |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| ARXaristaless related homeobox | Sometimes (5–29%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 3 conditions |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 2 conditions |
| 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 |
| ATP6V1AATPase H+ transporting V1 subunit A | Sometimes (5–29%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Sometimes (5–29%) | In 1 condition |
| BOLA3bolA family member 3 | Sometimes (5–29%) | In 1 condition |
| C19orf12chromosome 19 open reading frame 12 | Sometimes (5–29%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sometimes (5–29%) | In 1 condition |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Sometimes (5–29%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Sometimes (5–29%) | In 1 condition |
| COG5component of oligomeric golgi complex 5 | Sometimes (5–29%) | In 2 conditions |
| COG6component of oligomeric golgi complex 6 | Sometimes (5–29%) | In 1 condition |
| CTSFcathepsin F | Sometimes (5–29%) | In 1 condition |
| CUX2cut like homeobox 2 | Sometimes (5–29%) | In 1 condition |
| CYB5Acytochrome b5 type A | Sometimes (5–29%) | In 1 condition |
| CYB5R3cytochrome b5 reductase 3 | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Sometimes (5–29%) | In 1 condition |
| DMXL2Dmx like 2 | Sometimes (5–29%) | In 1 condition |
| DNMT1DNA methyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| DOHHdeoxyhypusine hydroxylase | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 1 condition |
| EBF3EBF transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Sometimes (5–29%) | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Sometimes (5–29%) | In 1 condition |
| FXNfrataxin | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| GJB1gap junction protein beta 1 | Sometimes (5–29%) | In 1 condition |
| GNAO1G protein subunit alpha o1 | Sometimes (5–29%) | In 2 conditions |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sometimes (5–29%) | In 2 conditions |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Sometimes (5–29%) | In 1 condition |
| HK1hexokinase 1 | Sometimes (5–29%) | In 1 condition |
| HTThuntingtin | Sometimes (5–29%) | In 3 conditions |
| IFRD1interferon related developmental regulator 1 | Sometimes (5–29%) | In 1 condition |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Sometimes (5–29%) | In 1 condition |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sometimes (5–29%) | In 2 conditions |
| KCNC1potassium voltage-gated channel subfamily C member 1 | Sometimes (5–29%) | In 1 condition |
| KIF1Ckinesin family member 1C | Sometimes (5–29%) | In 2 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sometimes (5–29%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Sometimes (5–29%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Sometimes (5–29%) | In 1 condition |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 2 conditions |
| MRPS34mitochondrial ribosomal protein S34 | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| NAXENAD(P)HX epimerase | Sometimes (5–29%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Sometimes (5–29%) | In 1 condition |
| NEUROD2neuronal differentiation 2 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 2 conditions |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 2 conditions |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sometimes (5–29%) | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sometimes (5–29%) | In 1 condition |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sometimes (5–29%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 2 conditions |
| PRRT2proline rich transmembrane protein 2 | Sometimes (5–29%) | In 1 condition |
| RELNreelin | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RNF13ring finger protein 13 | Sometimes (5–29%) | In 1 condition |
| RNF170ring finger protein 170 | Sometimes (5–29%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 1 condition |
| SCAF4SR-related CTD associated factor 4 | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sometimes (5–29%) | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 1 condition |
| SEMA6Bsemaphorin 6B | Sometimes (5–29%) | In 1 condition |
| SERAC1serine active site containing 1 | Sometimes (5–29%) | In 2 conditions |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Sometimes (5–29%) | In 1 condition |
| SIK1salt inducible kinase 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A22solute carrier family 25 member 22 | Sometimes (5–29%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Sometimes (5–29%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC9A1solute carrier family 9 member A1 | Sometimes (5–29%) | In 1 condition |
| SOX4SRY-box transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SRD5A3steroid 5 alpha-reductase 3 | Sometimes (5–29%) | In 1 condition |
| TBC1D2BTBC1 domain family member 2B | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 1 condition |
| TECPR2tectonin beta-propeller repeat containing 2 | Sometimes (5–29%) | In 1 condition |
| TK2thymidine kinase 2 | Sometimes (5–29%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 2 conditions |
| VPS41VPS41 subunit of HOPS complex | Sometimes (5–29%) | In 1 condition |
| WSB2WD repeat and SOCS box containing 2 | Sometimes (5–29%) | In 1 condition |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Sometimes (5–29%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Rarely (1–4%) | In 1 condition |
| CIZ1CDKN1A interacting zinc finger protein 1 | Rarely (1–4%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Rarely (1–4%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| IBA57iron-sulfur cluster assembly factor IBA57 | Rarely (1–4%) | In 1 condition |
| NFASCneurofascin | Rarely (1–4%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Rarely (1–4%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Rarely (1–4%) | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Rarely (1–4%) | In 2 conditions |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Rarely (1–4%) | In 1 condition |
| ACY1aminoacylase 1 | Not recorded | In 1 condition |
| ADSLadenylosuccinate lyase | Not recorded | In 1 condition |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Not recorded | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| CKAP2Lcytoskeleton associated protein 2L | Not recorded | In 1 condition |
| CNTNAP1contactin associated protein 1 | Not recorded | In 2 conditions |
| COA7cytochrome c oxidase assembly factor 7 | Not recorded | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Not recorded | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Not recorded | In 1 condition |
| DAB1DAB adaptor protein 1 | Not recorded | In 1 condition |
| DEGS1delta 4-desaturase, sphingolipid 1 | Not recorded | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Not recorded | In 1 condition |
| EXOSC3exosome component 3 | Not recorded | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Not recorded | In 1 condition |
| FRRS1Lferric chelate reductase 1 like | Not recorded | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Not recorded | In 1 condition |
| KYkyphoscoliosis peptidase | Not recorded | In 1 condition |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Not recorded | In 1 condition |
| MAGmyelin associated glycoprotein | Not recorded | In 1 condition |
| MCOLN1mucolipin TRP cation channel 1 | Not recorded | In 1 condition |
| MFSD8major facilitator superfamily domain containing 8 | Not recorded | In 1 condition |
| MYH3myosin heavy chain 3 | Not recorded | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | 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 |
| NUP214nucleoporin 214 | Not recorded | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Not recorded | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Not recorded | In 1 condition |
| PLD3phospholipase D family member 3 | Not recorded | In 1 condition |
| PLK4polo like kinase 4 | Not recorded | In 1 condition |
| POLR3ARNA polymerase III subunit A | Not recorded | In 1 condition |
| PRKCGprotein kinase C gamma | Not recorded | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Not recorded | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Not recorded | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Not recorded | In 1 condition |
| SPARTspartin | Not recorded | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| TRAPPC4trafficking protein particle complex subunit 4 | Not recorded | In 1 condition |
| TRPC3transient receptor potential cation channel subfamily C member 3 | Not recorded | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Not recorded | In 1 condition |
| TUBB4Atubulin beta 4A class IVa | Not recorded | In 1 condition |
| TXN2thioredoxin 2 | Not recorded | In 1 condition |
| UFM1ubiquitin fold modifier 1 | Not recorded | In 1 condition |
| VLDLRvery low density lipoprotein receptor | Not recorded | In 1 condition |
| VWA3Bvon Willebrand factor A domain containing 3B | Not recorded | In 1 condition |
| WWOXWW domain containing oxidoreductase | Not recorded | In 1 condition |
| ZFHX3zinc finger homeobox 3 | Not recorded | In 1 condition |
| ZIC1Zic family zinc finger 1 | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | Not recorded | In 1 condition |
| ZNF335zinc finger protein 335 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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