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Trait
Degeneration of cerebrum
Clinical name: Cerebral atrophy
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Summary
- Body system
- Abnormality of the nervous system
Degeneration of cerebrumHP:0002059
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Read the genes linked to Degeneration of cerebrum, and the rest of your genome, with one test.
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Get my Genome Test413 genes linked to Degeneration of cerebrum
Changes in these genes cause rare conditions in which Degeneration of cerebrum 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 |
|---|---|---|
| AARS1alanyl-tRNA synthetase 1 | Always | In 2 conditions |
| ACER3alkaline ceramidase 3 | Always | In 1 condition |
| ADAM22ADAM metallopeptidase domain 22 | Always | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 2 conditions |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| ATP11AATPase phospholipid transporting 11A | Always | In 1 condition |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Always | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Always | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Always | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Always | In 1 condition |
| COQ9coenzyme Q9 | Always | In 1 condition |
| COX4I1cytochrome c oxidase subunit 4I1 | Always | In 1 condition |
| CST3cystatin C | Always | In 1 condition |
| CTSDcathepsin D | Always | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Always | In 1 condition |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Always | In 2 conditions |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Always | In 2 conditions |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Always | In 1 condition |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Always | In 1 condition |
| EXOSC1exosome component 1 | Always | In 1 condition |
| FADDFas associated via death domain | Always | In 2 conditions |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Always | In 1 condition |
| GBA2glucosylceramidase beta 2 | Always | In 3 conditions |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Always | In 1 condition |
| HTThuntingtin | Always | In 2 conditions |
| IBA57iron-sulfur cluster assembly factor IBA57 | Always | In 2 conditions |
| IFIH1interferon induced with helicase C domain 1 | Always | In 1 condition |
| INTS11integrator complex subunit 11 | Always | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 1 condition |
| KCTD7potassium channel tetramerization domain containing 7 | Always | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Always | In 2 conditions |
| LSM11LSM11, U7 small nuclear RNA associated | Always | In 1 condition |
Show 373 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MAP2K1mitogen-activated protein kinase kinase 1 | Always | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Always | In 1 condition |
| MAPTmicrotubule associated protein tau | Always | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| MRM2mitochondrial rRNA methyltransferase 2 | Always | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Always | In 2 conditions |
| NADK2NAD kinase 2, mitochondrial | Always | In 1 condition |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Always | In 1 condition |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Always | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Always | In 1 condition |
| NEUROD2neuronal differentiation 2 | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Always | In 1 condition |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Always | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Always | In 1 condition |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 3 conditions |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Always | In 1 condition |
| PLA2G6phospholipase A2 group VI | Always | In 2 conditions |
| POLGDNA polymerase gamma, catalytic subunit | Always | In 2 conditions |
| POLR1ARNA polymerase I subunit A | Always | In 1 condition |
| PSPHphosphoserine phosphatase | Always | In 1 condition |
| PTCD3pentatricopeptide repeat domain 3 | Always | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Always | In 1 condition |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
| SLC33A1solute carrier family 33 member 1 | Always | In 1 condition |
| SLC5A6solute carrier family 5 member 6 | Always | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Always | In 1 condition |
| SPG21SPG21 abhydrolase domain containing, maspardin | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SUOXsulfite oxidase | Always | In 1 condition |
| TARS2threonyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Always | In 3 conditions |
| TECPR2tectonin beta-propeller repeat containing 2 | Always | In 2 conditions |
| TGFB1transforming growth factor beta 1 | Always | In 1 condition |
| TTC5tetratricopeptide repeat domain 5 | Always | In 1 condition |
| UBTFupstream binding transcription factor | Always | In 2 conditions |
| UCHL1ubiquitin C-terminal hydrolase L1 | Always | In 1 condition |
| VARS1valyl-tRNA synthetase 1 | Always | In 1 condition |
| VPS53VPS53 subunit of GARP complex | Always | In 1 condition |
| WDR45WD repeat domain 45 | Always | In 2 conditions |
| ADSLadenylosuccinate lyase | Very often (80–99%) | In 1 condition |
| GM2Aganglioside GM2 activator | Very often (80–99%) | In 2 conditions |
| GRM7glutamate metabotropic receptor 7 | Very often (80–99%) | In 1 condition |
| NGLY1N-glycanase 1 | Very often (80–99%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Very often (80–99%) | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Very often (80–99%) | In 2 conditions |
| ABAT4-aminobutyrate aminotransferase | Often (30–79%) | In 1 condition |
| ABCD4ATP binding cassette subfamily D member 4 | Often (30–79%) | In 1 condition |
| ACTL6Bactin like 6B | Often (30–79%) | In 2 conditions |
| ADKadenosine kinase | Often (30–79%) | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Often (30–79%) | In 1 condition |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Often (30–79%) | In 1 condition |
| ATG7autophagy related 7 | Often (30–79%) | In 1 condition |
| ATXN7ataxin 7 | Often (30–79%) | In 1 condition |
| BCAP31B cell receptor associated protein 31 | Often (30–79%) | In 1 condition |
| BCAS3BCAS3 microtubule associated cell migration factor | Often (30–79%) | In 1 condition |
| BORCS5BLOC-1 related complex subunit 5 | Often (30–79%) | In 1 condition |
| CAPRIN1cell cycle associated protein 1 | Often (30–79%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Often (30–79%) | In 2 conditions |
| CILK1ciliogenesis associated kinase 1 | Often (30–79%) | In 1 condition |
| CLN8CLN8 transmembrane ER and ERGIC protein | Often (30–79%) | In 3 conditions |
| CLPBClpB family mitochondrial disaggregase | Often (30–79%) | In 2 conditions |
| COLGALT1collagen beta(1-O)galactosyltransferase 1 | Often (30–79%) | In 1 condition |
| COQ4coenzyme Q4 | Often (30–79%) | In 1 condition |
| CPSF3cleavage and polyadenylation specific factor 3 | Often (30–79%) | In 1 condition |
| CRLS1cardiolipin synthase 1 | Often (30–79%) | In 1 condition |
| DHX30DExH-box helicase 30 | Often (30–79%) | In 1 condition |
| DTYMKdeoxythymidylate kinase | Often (30–79%) | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Often (30–79%) | In 2 conditions |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 2 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Often (30–79%) | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Often (30–79%) | In 1 condition |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Often (30–79%) | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Often (30–79%) | In 1 condition |
| FBXO28F-box protein 28 | Often (30–79%) | In 2 conditions |
| FDXRferredoxin reductase | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| FHfumarate hydratase | Often (30–79%) | In 2 conditions |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Often (30–79%) | In 2 conditions |
| GNAO1G protein subunit alpha o1 | Often (30–79%) | In 2 conditions |
| GOT2glutamic-oxaloacetic transaminase 2 | Often (30–79%) | In 1 condition |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Often (30–79%) | In 1 condition |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Often (30–79%) | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Often (30–79%) | In 1 condition |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Often (30–79%) | In 2 conditions |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Often (30–79%) | In 1 condition |
| KIDINS220kinase D interacting substrate 220 | Often (30–79%) | In 1 condition |
| KIF1Akinesin family member 1A | Often (30–79%) | In 1 condition |
| LAGE3L antigen family member 3 | Often (30–79%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Often (30–79%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Often (30–79%) | In 1 condition |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Often (30–79%) | In 2 conditions |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 1 condition |
| NANSN-acetylneuraminate synthase | Often (30–79%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Often (30–79%) | In 2 conditions |
| NDUFB8NADH:ubiquinone oxidoreductase subunit B8 | Often (30–79%) | In 1 condition |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Often (30–79%) | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Often (30–79%) | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Often (30–79%) | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Often (30–79%) | In 2 conditions |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Often (30–79%) | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Often (30–79%) | In 1 condition |
| PITRM1pitrilysin metallopeptidase 1 | Often (30–79%) | In 1 condition |
| PLCB1phospholipase C beta 1 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Often (30–79%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Often (30–79%) | In 1 condition |
| PUM1pumilio RNA binding family member 1 | Often (30–79%) | In 1 condition |
| PUS3pseudouridine synthase 3 | Often (30–79%) | In 1 condition |
| RARS1arginyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| RBL2RB transcriptional corepressor like 2 | Often (30–79%) | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| RCC1regulator of chromosome condensation 1 | Often (30–79%) | In 1 condition |
| REPS1RALBP1 associated Eps domain containing 1 | Often (30–79%) | In 1 condition |
| RFT1RFT1 glycolipid translocator homolog | Often (30–79%) | In 2 conditions |
| RNF216ring finger protein 216 | Often (30–79%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 3 conditions |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Often (30–79%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Often (30–79%) | In 2 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Often (30–79%) | In 1 condition |
| SLC12A5solute carrier family 12 member 5 | Often (30–79%) | In 2 conditions |
| SLC19A1solute carrier family 19 member 1 | Often (30–79%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Often (30–79%) | In 2 conditions |
| SLC25A22solute carrier family 25 member 22 | Often (30–79%) | In 2 conditions |
| SLC35A2solute carrier family 35 member A2 | Often (30–79%) | In 2 conditions |
| SLC35B2solute carrier family 35 member B2 | Often (30–79%) | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 2 conditions |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Often (30–79%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Often (30–79%) | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Often (30–79%) | In 2 conditions |
| TANGO2transport and golgi organization 2 homolog | Often (30–79%) | In 1 condition |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| TMX2thioredoxin related transmembrane protein 2 | Often (30–79%) | In 1 condition |
| TPI1triosephosphate isomerase 1 | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 2 conditions |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Often (30–79%) | In 1 condition |
| TRNT1tRNA nucleotidyl transferase 1 | Often (30–79%) | In 1 condition |
| TRPM7transient receptor potential cation channel subfamily M member 7 | Often (30–79%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Often (30–79%) | In 2 conditions |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Often (30–79%) | In 2 conditions |
| WDR73WD repeat domain 73 | Often (30–79%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Often (30–79%) | In 1 condition |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Often (30–79%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Sometimes (5–29%) | In 2 conditions |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 2 conditions |
| APC2APC regulator of Wnt signaling pathway 2 | Sometimes (5–29%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 2 conditions |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Sometimes (5–29%) | In 2 conditions |
| BOLA3bolA family member 3 | Sometimes (5–29%) | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sometimes (5–29%) | In 2 conditions |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sometimes (5–29%) | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sometimes (5–29%) | In 2 conditions |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 1 condition |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| COASYCoenzyme A synthase | Sometimes (5–29%) | In 1 condition |
| COG5component of oligomeric golgi complex 5 | Sometimes (5–29%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Sometimes (5–29%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sometimes (5–29%) | In 2 conditions |
| DALRD3DALR anticodon binding domain containing 3 | Sometimes (5–29%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| DNM1dynamin 1 | Sometimes (5–29%) | In 1 condition |
| DNMT1DNA methyltransferase 1 | Sometimes (5–29%) | In 2 conditions |
| DOCK6dedicator of cytokinesis 6 | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Sometimes (5–29%) | In 2 conditions |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Sometimes (5–29%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FOXG1forkhead box G1 | Sometimes (5–29%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Sometimes (5–29%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sometimes (5–29%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sometimes (5–29%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sometimes (5–29%) | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Sometimes (5–29%) | In 1 condition |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sometimes (5–29%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sometimes (5–29%) | In 2 conditions |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sometimes (5–29%) | In 2 conditions |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Sometimes (5–29%) | In 1 condition |
| HNF1BHNF1 homeobox B | Sometimes (5–29%) | In 1 condition |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Sometimes (5–29%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sometimes (5–29%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sometimes (5–29%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 2 conditions |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Sometimes (5–29%) | In 1 condition |
| KIF1Ckinesin family member 1C | Sometimes (5–29%) | In 2 conditions |
| KIF26Akinesin family member 26A | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| LHX1LIM homeobox 1 | Sometimes (5–29%) | In 1 condition |
| LIASlipoic acid synthetase | Sometimes (5–29%) | In 1 condition |
| LYRM7LYR motif containing 7 | Sometimes (5–29%) | In 1 condition |
| MAFMAF bZIP transcription factor | Sometimes (5–29%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Sometimes (5–29%) | In 1 condition |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Sometimes (5–29%) | In 1 condition |
| MED25mediator complex subunit 25 | Sometimes (5–29%) | In 2 conditions |
| MED27mediator complex subunit 27 | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| MYT1Lmyelin transcription factor 1 like | Sometimes (5–29%) | In 1 condition |
| NACC1nucleus accumbens associated 1 | Sometimes (5–29%) | In 2 conditions |
| NALCNsodium leak channel, non-selective | Sometimes (5–29%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 2 conditions |
| NKX6-2NK6 homeobox 2 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Sometimes (5–29%) | In 1 condition |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Sometimes (5–29%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sometimes (5–29%) | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sometimes (5–29%) | In 2 conditions |
| PRKNparkin RBR E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| RFC4replication factor C subunit 4 | Sometimes (5–29%) | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sometimes (5–29%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC2A3solute carrier family 2 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC32A1solute carrier family 32 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC39A8solute carrier family 39 member 8 | Sometimes (5–29%) | In 1 condition |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sometimes (5–29%) | In 1 condition |
| STAG1STAG1 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 1 condition |
| SYT2synaptotagmin 2 | Sometimes (5–29%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Sometimes (5–29%) | In 1 condition |
| TAF2TATA-box binding protein associated factor 2 | Sometimes (5–29%) | In 2 conditions |
| TK2thymidine kinase 2 | Sometimes (5–29%) | In 2 conditions |
| TOP3ADNA topoisomerase III alpha | Sometimes (5–29%) | In 1 condition |
| TP53RKTP53 regulating kinase | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Sometimes (5–29%) | In 1 condition |
| TSEN2tRNA splicing endonuclease subunit 2 | Sometimes (5–29%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Sometimes (5–29%) | In 1 condition |
| UNC13Aunc-13 homolog A | Sometimes (5–29%) | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Sometimes (5–29%) | In 1 condition |
| UPB1beta-ureidopropionase 1 | Sometimes (5–29%) | In 1 condition |
| VPS4Avacuolar protein sorting 4 homolog A | Sometimes (5–29%) | In 1 condition |
| YIF1BYip1 interacting factor homolog B, membrane trafficking protein | Sometimes (5–29%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ATAD1ATPase family AAA domain containing 1 | Rarely (1–4%) | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | 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 |
| GLE1GLE1 RNA export mediator | Rarely (1–4%) | In 1 condition |
| PDHXpyruvate dehydrogenase complex component X | Rarely (1–4%) | In 1 condition |
| ACY1aminoacylase 1 | Not recorded | In 1 condition |
| ADPRSADP-ribosylserine hydrolase | Not recorded | In 1 condition |
| AGAaspartylglucosaminidase | 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 |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Not recorded | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Not recorded | In 1 condition |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Not recorded | In 1 condition |
| C9orf72C9orf72-SMCR8 complex subunit | Not recorded | In 1 condition |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Not recorded | In 1 condition |
| CLN6CLN6 transmembrane ER protein | Not recorded | In 1 condition |
| CNTNAP1contactin associated protein 1 | Not recorded | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Not recorded | In 1 condition |
| CTDP1CTD phosphatase 1 | Not recorded | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| DHFRdihydrofolate reductase | Not recorded | In 1 condition |
| DMPKDM1 protein kinase | Not recorded | In 1 condition |
| DSEdermatan sulfate epimerase | Not recorded | In 1 condition |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Not recorded | In 1 condition |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Not recorded | In 1 condition |
| EXOSC3exosome component 3 | Not recorded | In 1 condition |
| EXOSC9exosome component 9 | Not recorded | In 1 condition |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Not recorded | In 1 condition |
| FGF13fibroblast growth factor 13 | Not recorded | In 1 condition |
| FRRS1Lferric chelate reductase 1 like | Not recorded | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Not recorded | In 1 condition |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| GJC2gap junction protein gamma 2 | Not recorded | In 1 condition |
| GLB1galactosidase beta 1 | Not recorded | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| HTRA2HtrA serine peptidase 2 | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| ITPAinosine triphosphatase | Not recorded | In 1 condition |
| KANK1KN motif and ankyrin repeat domains 1 | Not recorded | In 1 condition |
| KYkyphoscoliosis peptidase | Not recorded | In 1 condition |
| MFSD8major facilitator superfamily domain containing 8 | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Not recorded | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Not recorded | In 1 condition |
| MPDU1mannose-P-dolichol utilization defect 1 | Not recorded | In 1 condition |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Not recorded | In 1 condition |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Not recorded | In 1 condition |
| MVKmevalonate kinase | Not recorded | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Not recorded | In 1 condition |
| NRROSnegative regulator of reactive oxygen species | Not recorded | In 1 condition |
| NUP214nucleoporin 214 | Not recorded | In 1 condition |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Not recorded | In 1 condition |
| PCCApropionyl-CoA carboxylase subunit alpha | Not recorded | In 1 condition |
| PCCBpropionyl-CoA carboxylase subunit beta | Not recorded | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | Not recorded | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Not recorded | In 1 condition |
| PLK4polo like kinase 4 | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Not recorded | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Not recorded | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Not recorded | In 1 condition |
| QARS1glutaminyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Not recorded | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Not recorded | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Not recorded | In 1 condition |
| ROGDIrogdi atypical leucine zipper | Not recorded | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Not recorded | In 1 condition |
| SERPINI1serpin family I member 1 | Not recorded | In 1 condition |
| SETBP1SET binding protein 1 | Not recorded | In 1 condition |
| SLC17A5solute carrier family 17 member 5 | Not recorded | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Not recorded | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Not recorded | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Not recorded | In 1 condition |
| SNORD118small nucleolar RNA, C/D box 118 | Not recorded | In 1 condition |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Not recorded | In 1 condition |
| STAMBPSTAM binding protein | Not recorded | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Not recorded | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Not recorded | In 1 condition |
| TBCKTBC1 domain containing kinase | Not recorded | In 1 condition |
| TCTN3tectonic family member 3 | Not recorded | In 1 condition |
| TOE1target of EGR1, exonuclease | Not recorded | In 1 condition |
| TPP1tripeptidyl peptidase 1 | Not recorded | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Not recorded | In 1 condition |
| TREX1three prime repair exonuclease 1 | Not recorded | In 1 condition |
| TRIT1tRNA isopentenyltransferase 1 | Not recorded | In 1 condition |
| TTC19tetratricopeptide repeat domain 19 | Not recorded | In 1 condition |
| TUBGCP6tubulin gamma complex component 6 | Not recorded | In 1 condition |
| TWNKtwinkle mtDNA helicase | Not recorded | In 1 condition |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Not recorded | In 1 condition |
| UFM1ubiquitin fold modifier 1 | Not recorded | In 1 condition |
| WFS1wolframin ER transmembrane glycoprotein | Not recorded | In 1 condition |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Not recorded | In 1 condition |
| WNK3WNK lysine deficient protein kinase 3 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | 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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