Trait
Decrease in size of the outer layer of the brain due to loss of brain cells
Clinical name: Cerebral cortical atrophy
Atrophy of the cortex of the cerebrum.
Summary
- Also called
- Cerebral cortex atrophy, Cortical atrophy
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Get my Genome Test320 genes linked to Decrease in size of the outer layer of the brain due to loss of brain cells
Changes in these genes cause rare conditions in which Decrease in size of the outer layer of the brain due to loss of brain cells 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 |
|---|---|---|
| ACY1aminoacylase 1 | Always | In 1 condition |
| ATP8A2ATPase phospholipid transporting 8A2 | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 2 conditions |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Always | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| CLN5CLN5 lysosomal BMP synthase | Always | In 1 condition |
| COL4A2collagen type IV alpha 2 chain | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 1 condition |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Always | In 1 condition |
| EXOSC5exosome component 5 | Always | In 1 condition |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| GET4guided entry of tail-anchored proteins factor 4 | Always | In 1 condition |
| GOLGA2golgin A2 | Always | In 1 condition |
| JPH3junctophilin 3 | Always | In 2 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Always | In 3 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Always | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Always | In 2 conditions |
| NUP133nucleoporin 133 | Always | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| PANK2pantothenate kinase 2 | Always | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Always | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Always | In 2 conditions |
| RAB3ARAB3A, member RAS oncogene family | Always | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SYNJ1synaptojanin 1 | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TRAPPC12trafficking protein particle complex subunit 12 | Always | In 2 conditions |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Always | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Always | In 3 conditions |
| VARS1valyl-tRNA synthetase 1 | Always | In 1 condition |
| ADA2adenosine deaminase 2 | Very often (80–99%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| APPamyloid beta precursor protein | Very often (80–99%) | In 1 condition |
Show 280 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ATP13A2ATPase cation transporting 13A2 | Very often (80–99%) | In 3 conditions |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Very often (80–99%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Very often (80–99%) | In 3 conditions |
| ERCC5ERCC excision repair 5, endonuclease | Very often (80–99%) | In 2 conditions |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Very often (80–99%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Very often (80–99%) | In 2 conditions |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| HIC1HIC ZBTB transcriptional repressor 1 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Very often (80–99%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Very often (80–99%) | In 1 condition |
| MVKmevalonate kinase | Very often (80–99%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Very often (80–99%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Very often (80–99%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Very often (80–99%) | In 1 condition |
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| PLAAphospholipase A2 activating protein | Very often (80–99%) | In 1 condition |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| PSEN1presenilin 1 | Very often (80–99%) | In 2 conditions |
| PSEN2presenilin 2 | Very often (80–99%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 1 condition |
| SKISKI proto-oncogene | Very often (80–99%) | In 1 condition |
| SLC39A4solute carrier family 39 member 4 | Very often (80–99%) | In 1 condition |
| SORL1sortilin related receptor 1 | Very often (80–99%) | In 1 condition |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 1 condition |
| TBCDtubulin folding cofactor D | Very often (80–99%) | In 1 condition |
| TOMM40translocase of outer mitochondrial membrane 40 | Very often (80–99%) | In 1 condition |
| TRAPPC9trafficking protein particle complex subunit 9 | Very often (80–99%) | In 1 condition |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Very often (80–99%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Very often (80–99%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| ACO2aconitase 2 | Often (30–79%) | In 1 condition |
| ACTBactin beta | Often (30–79%) | In 1 condition |
| ACTG1actin gamma 1 | 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 1 condition |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Often (30–79%) | In 1 condition |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Often (30–79%) | In 2 conditions |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Often (30–79%) | In 2 conditions |
| CTDP1CTD phosphatase 1 | Often (30–79%) | In 1 condition |
| CTSFcathepsin F | Often (30–79%) | In 1 condition |
| DGUOKdeoxyguanosine kinase | Often (30–79%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 3 conditions |
| ELOVL4ELOVL fatty acid elongase 4 | Often (30–79%) | In 1 condition |
| EXOSC2exosome component 2 | Often (30–79%) | In 1 condition |
| EXOSC8exosome component 8 | Often (30–79%) | In 2 conditions |
| EXOSC9exosome component 9 | Often (30–79%) | In 2 conditions |
| FBLN1fibulin 1 | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Often (30–79%) | In 1 condition |
| GBA2glucosylceramidase beta 2 | Often (30–79%) | In 1 condition |
| GDAP2ganglioside induced differentiation associated protein 2 | Often (30–79%) | In 1 condition |
| GLYCTKglycerate kinase | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Often (30–79%) | In 1 condition |
| GUF1GTP binding elongation factor GUF1 | Often (30–79%) | In 1 condition |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Often (30–79%) | In 2 conditions |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Often (30–79%) | In 1 condition |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Often (30–79%) | In 1 condition |
| KDM6Alysine demethylase 6A | Often (30–79%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Often (30–79%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| LIPT2lipoyl(octanoyl) transferase 2 | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Often (30–79%) | In 3 conditions |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 2 conditions |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 2 conditions |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Often (30–79%) | In 1 condition |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Often (30–79%) | In 1 condition |
| OCLNoccludin | Often (30–79%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Often (30–79%) | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Often (30–79%) | In 1 condition |
| PHACTR1phosphatase and actin regulator 1 | Often (30–79%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Often (30–79%) | In 1 condition |
| PLK4polo like kinase 4 | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Often (30–79%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Often (30–79%) | In 1 condition |
| PUS3pseudouridine synthase 3 | Often (30–79%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Often (30–79%) | In 2 conditions |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Often (30–79%) | In 2 conditions |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Often (30–79%) | In 3 conditions |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| RNF125ring finger protein 125 | Often (30–79%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Often (30–79%) | In 1 condition |
| SLC25A15solute carrier family 25 member 15 | Often (30–79%) | In 2 conditions |
| SLC39A8solute carrier family 39 member 8 | Often (30–79%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Often (30–79%) | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Often (30–79%) | In 2 conditions |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 2 conditions |
| TCTN3tectonic family member 3 | Often (30–79%) | In 1 condition |
| TERCtelomerase RNA component | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Often (30–79%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Often (30–79%) | In 1 condition |
| TMEM70transmembrane protein 70 | Often (30–79%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Often (30–79%) | In 1 condition |
| TUBGCP4tubulin gamma complex component 4 | Often (30–79%) | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | Often (30–79%) | In 1 condition |
| UGP2UDP-glucose pyrophosphorylase 2 | Often (30–79%) | In 1 condition |
| VPS13Cvacuolar protein sorting 13 homolog C | Often (30–79%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Often (30–79%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| AFG2AAAA ATPase AFG2A | Sometimes (5–29%) | In 1 condition |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Sometimes (5–29%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sometimes (5–29%) | In 2 conditions |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ARXaristaless related homeobox | 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 |
| ATXN2ataxin 2 | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Sometimes (5–29%) | In 1 condition |
| BCAP31B cell receptor associated protein 31 | Sometimes (5–29%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sometimes (5–29%) | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Sometimes (5–29%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Sometimes (5–29%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sometimes (5–29%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Sometimes (5–29%) | In 2 conditions |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DDB2damage specific DNA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Sometimes (5–29%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Sometimes (5–29%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 2 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| EXOSC3exosome component 3 | Sometimes (5–29%) | In 1 condition |
| FA2Hfatty acid 2-hydroxylase | Sometimes (5–29%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Sometimes (5–29%) | In 1 condition |
| FRMPD4FERM and PDZ domain containing 4 | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 1 condition |
| GIGYF2GRB10 interacting GYF protein 2 | Sometimes (5–29%) | In 1 condition |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 2 conditions |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| GPKOWG-patch domain and KOW motifs | Sometimes (5–29%) | In 1 condition |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Sometimes (5–29%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Sometimes (5–29%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Sometimes (5–29%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Sometimes (5–29%) | In 1 condition |
| LRRK2leucine rich repeat kinase 2 | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| MED11mediator complex subunit 11 | Sometimes (5–29%) | In 1 condition |
| METTL27methyltransferase like 27 | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 2 conditions |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Sometimes (5–29%) | In 1 condition |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Sometimes (5–29%) | In 1 condition |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Sometimes (5–29%) | In 1 condition |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| MYO5Amyosin VA | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 2 conditions |
| NOVA2NOVA alternative splicing regulator 2 | Sometimes (5–29%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Sometimes (5–29%) | In 1 condition |
| PCDHGC4protocadherin gamma subfamily C, 4 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Sometimes (5–29%) | In 2 conditions |
| PPFIBP1PPFIB scaffold protein 1 | Sometimes (5–29%) | In 1 condition |
| PRNPprion protein (Kanno blood group) | Sometimes (5–29%) | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| RFC2replication factor C subunit 2 | Sometimes (5–29%) | In 1 condition |
| RFT1RFT1 glycolipid translocator homolog | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RPS6KA3ribosomal protein S6 kinase A3 | Sometimes (5–29%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Sometimes (5–29%) | In 1 condition |
| SERAC1serine active site containing 1 | Sometimes (5–29%) | In 1 condition |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SNCAsynuclein alpha | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 1 condition |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sometimes (5–29%) | In 2 conditions |
| STX1Asyntaxin 1A | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TBL2transducin beta like 2 | Sometimes (5–29%) | In 1 condition |
| TMEM270transmembrane protein 270 | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | 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 |
| VPS13Avacuolar protein sorting 13 homolog A | Sometimes (5–29%) | In 1 condition |
| VPS35VPS35 retromer complex component | Sometimes (5–29%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Sometimes (5–29%) | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Sometimes (5–29%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Sometimes (5–29%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Sometimes (5–29%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Rarely (1–4%) | In 2 conditions |
| CIZ1CDKN1A interacting zinc finger protein 1 | Rarely (1–4%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Rarely (1–4%) | In 1 condition |
| POU4F1POU class 4 homeobox 1 | Rarely (1–4%) | In 1 condition |
| ABCA7ATP binding cassette subfamily A member 7 | Not recorded | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Not recorded | In 1 condition |
| AMPD2adenosine monophosphate deaminase 2 | Not recorded | In 1 condition |
| APOEapolipoprotein E | Not recorded | In 1 condition |
| BICD2BICD cargo adaptor 2 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Not recorded | In 1 condition |
| CDC42cell division cycle 42 | Not recorded | In 1 condition |
| CHMP2Bcharged multivesicular body protein 2B | Not recorded | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Not recorded | In 1 condition |
| EMX2empty spiracles homeobox 2 | Not recorded | In 1 condition |
| EXOC7exocyst complex component 7 | Not recorded | In 1 condition |
| GRNgranulin precursor | Not recorded | In 1 condition |
| HNF1BHNF1 homeobox B | Not recorded | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Not recorded | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Not recorded | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Not recorded | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Not recorded | In 1 condition |
| MUC1mucin 1, cell surface associated | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Not recorded | In 1 condition |
| POLR3BRNA polymerase III subunit B | Not recorded | In 1 condition |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Not recorded | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Not recorded | In 1 condition |
| RNU12RNA, U12 small nuclear | Not recorded | In 1 condition |
| SIX3SIX homeobox 3 | Not recorded | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Not recorded | In 1 condition |
| SNX14sorting nexin 14 | Not recorded | In 1 condition |
| SQSTM1sequestosome 1 | Not recorded | In 1 condition |
| TBK1TANK binding kinase 1 | Not recorded | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Not recorded | In 1 condition |
| TWNKtwinkle mtDNA helicase | Not recorded | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Not recorded | In 1 condition |
| UBTFupstream binding transcription factor | 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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