Trait
Fatigue
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Summary
- Also called
- Tired, Tiredness
- Body system
- Constitutional symptom
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Fatigue 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Always | In 3 conditions |
| ALBalbumin | Always | In 2 conditions |
| CST3cystatin C | Always | In 1 condition |
| EMDemerin | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| FLT3LGfms related receptor tyrosine kinase 3 ligand | Always | In 1 condition |
| GAAalpha glucosidase | Always | In 1 condition |
| GFAPglial fibrillary acidic protein | Always | In 1 condition |
| GYS1glycogen synthase 1 | Always | In 1 condition |
| HEPHL1hephaestin like 1 | Always | In 1 condition |
| IL18BPinterleukin 18 binding protein | Always | In 1 condition |
| IL21interleukin 21 | Always | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| JPH1junctophilin 1 | Always | In 1 condition |
| KLklotho | Always | In 1 condition |
| KLF1KLF transcription factor 1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 2 conditions |
| LRIF1ligand dependent nuclear receptor interacting factor 1 | Always | In 1 condition |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Always | In 1 condition |
| NDC1NDC1 transmembrane nucleoporin | Always | In 1 condition |
| NEXNnexilin F-actin binding protein | Always | In 2 conditions |
| NLRC4NLR family CARD domain containing 4 | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| NRAPnebulin related anchoring protein | Always | In 2 conditions |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Always | In 1 condition |
| PIK3CGphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | Always | In 1 condition |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Always | In 1 condition |
| PNPLA8patatin like domain 8, phospholipase A2 | Always | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Always | In 2 conditions |
| PTCRApre T cell antigen receptor alpha | Always | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Always | In 1 condition |
| RIN2Ras and Rab interactor 2 | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 2 conditions |
| SLC18A2solute carrier family 18 member A2 | Always | In 2 conditions |
| SLC25A4solute carrier family 25 member 4 | Always | In 2 conditions |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Always | In 2 conditions |
| THRBthyroid hormone receptor beta | Always | In 1 condition |
| ZMYM3zinc finger MYM-type containing 3 | Always | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Very often (80–99%) | In 2 conditions |
Show 461 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALAS25'-aminolevulinate synthase 2 | Very often (80–99%) | In 1 condition |
| ATMATM serine/threonine kinase | Very often (80–99%) | In 2 conditions |
| ATP7AATPase copper transporting alpha | Very often (80–99%) | In 1 condition |
| ATRXATRX chromatin remodeler | Very often (80–99%) | In 1 condition |
| BANK1B cell scaffold protein with ankyrin repeats 1 | Very often (80–99%) | In 1 condition |
| BCL10BCL10 immune signaling adaptor | Very often (80–99%) | In 1 condition |
| BIRC3baculoviral IAP repeat containing 3 | Very often (80–99%) | In 1 condition |
| BLKBLK proto-oncogene, Src family tyrosine kinase | Very often (80–99%) | In 1 condition |
| BLNKB cell linker | Very often (80–99%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Very often (80–99%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Very often (80–99%) | In 2 conditions |
| BTKBruton tyrosine kinase | Very often (80–99%) | In 1 condition |
| C4Acomplement C4A (Chido/Rodgers blood group) | Very often (80–99%) | In 2 conditions |
| C4Bcomplement C4B (Chido/Rodgers blood group) | Very often (80–99%) | In 1 condition |
| CALRcalreticulin | Very often (80–99%) | In 2 conditions |
| CCR1C-C motif chemokine receptor 1 | Very often (80–99%) | In 1 condition |
| CD4CD4 molecule | Very often (80–99%) | In 1 condition |
| CD79ACD79a molecule | Very often (80–99%) | In 1 condition |
| CD79BCD79b molecule | Very often (80–99%) | In 1 condition |
| CHEK2checkpoint kinase 2 | Very often (80–99%) | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Very often (80–99%) | In 1 condition |
| CR2complement C3d receptor 2 | Very often (80–99%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Very often (80–99%) | In 2 conditions |
| DDB2damage specific DNA binding protein 2 | Very often (80–99%) | In 1 condition |
| DNASE1deoxyribonuclease 1 | Very often (80–99%) | In 1 condition |
| EPCAMepithelial cell adhesion molecule | Very often (80–99%) | In 1 condition |
| EPORerythropoietin receptor | Very often (80–99%) | In 2 conditions |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Very often (80–99%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Very often (80–99%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Very often (80–99%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Very often (80–99%) | In 1 condition |
| ETS1ETS proto-oncogene 1, transcription factor | Very often (80–99%) | In 1 condition |
| FASFas cell surface death receptor | Very often (80–99%) | In 1 condition |
| FCGR2BFc gamma receptor IIb | Very often (80–99%) | In 1 condition |
| FCGR3BFc gamma receptor IIIb | Very often (80–99%) | In 1 condition |
| FOXE1forkhead box E1 | Very often (80–99%) | In 1 condition |
| FOXP1forkhead box P1 | Very often (80–99%) | In 1 condition |
| GATA2GATA binding protein 2 | Very often (80–99%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Very often (80–99%) | In 1 condition |
| GLAgalactosidase alpha | Very often (80–99%) | In 1 condition |
| GPR101G protein-coupled receptor 101 | Very often (80–99%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Very often (80–99%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Very often (80–99%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Very often (80–99%) | In 4 conditions |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Very often (80–99%) | In 1 condition |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Very often (80–99%) | In 2 conditions |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Very often (80–99%) | In 5 conditions |
| HNF4Ahepatocyte nuclear factor 4 alpha | Very often (80–99%) | In 1 condition |
| IFNGR1interferon gamma receptor 1 | Very often (80–99%) | In 1 condition |
| IGHimmunoglobulin heavy locus | Very often (80–99%) | In 3 conditions |
| IGHG1immunoglobulin heavy constant gamma 1 (G1m marker) | Very often (80–99%) | In 1 condition |
| IGHMimmunoglobulin heavy constant mu | Very often (80–99%) | In 1 condition |
| IGLL1immunoglobulin lambda like polypeptide 1 | Very often (80–99%) | In 1 condition |
| IKZF1IKAROS family zinc finger 1 | Very often (80–99%) | In 1 condition |
| IL10interleukin 10 | Very often (80–99%) | In 3 conditions |
| IL12Ainterleukin 12A | Very often (80–99%) | In 2 conditions |
| IL12A-AS1IL12A antisense RNA 1 | Very often (80–99%) | In 1 condition |
| IL12Binterleukin 12B | Very often (80–99%) | In 1 condition |
| IL23Rinterleukin 23 receptor | Very often (80–99%) | In 1 condition |
| IRAK1interleukin 1 receptor associated kinase 1 | Very often (80–99%) | In 1 condition |
| IRF4interferon regulatory factor 4 | Very often (80–99%) | In 1 condition |
| IRF5interferon regulatory factor 5 | Very often (80–99%) | In 2 conditions |
| ITGAMintegrin subunit alpha M | Very often (80–99%) | In 1 condition |
| JAK2Janus kinase 2 | Very often (80–99%) | In 4 conditions |
| JAZF1JAZF zinc finger 1 | Very often (80–99%) | In 1 condition |
| KIAA0319LKIAA0319 like | Very often (80–99%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| LBRlamin B receptor | Very often (80–99%) | In 1 condition |
| LRRC8Aleucine rich repeat containing 8 VRAC subunit A | Very often (80–99%) | In 1 condition |
| MALT1MALT1 paracaspase | Very often (80–99%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Very often (80–99%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Very often (80–99%) | In 2 conditions |
| MLH1mutL homolog 1 | Very often (80–99%) | In 1 condition |
| MLXMAX dimerization protein MLX | Very often (80–99%) | In 1 condition |
| MMADHCmetabolism of cobalamin associated D | Very often (80–99%) | In 1 condition |
| MPLMPL proto-oncogene, thrombopoietin receptor | Very often (80–99%) | In 2 conditions |
| MSH2mutS homolog 2 | Very often (80–99%) | In 1 condition |
| MSH6mutS homolog 6 | Very often (80–99%) | In 1 condition |
| MUTYHmutY DNA glycosylase | Very often (80–99%) | In 1 condition |
| MYH7myosin heavy chain 7 | Very often (80–99%) | In 2 conditions |
| NFKB2nuclear factor kappa B subunit 2 | Very often (80–99%) | In 1 condition |
| NKX2-1NK2 homeobox 1 | Very often (80–99%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Very often (80–99%) | In 4 conditions |
| NLRP3NLR family pyrin domain containing 3 | Very often (80–99%) | In 3 conditions |
| NPATnuclear protein, coactivator of histone transcription | Very often (80–99%) | In 1 condition |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Very often (80–99%) | In 2 conditions |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Very often (80–99%) | In 1 condition |
| PABPN1poly(A) binding protein nuclear 1 | Very often (80–99%) | In 1 condition |
| PAX8paired box 8 | Very often (80–99%) | In 3 conditions |
| PDCD1programmed cell death 1 | Very often (80–99%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Very often (80–99%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Very often (80–99%) | In 1 condition |
| PMS1PMS1 homolog 1, mismatch repair system component | Very often (80–99%) | In 1 condition |
| PMS2PMS1 homolog 2, mismatch repair system component | Very often (80–99%) | In 1 condition |
| POLD1DNA polymerase delta 1, catalytic subunit | Very often (80–99%) | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Very often (80–99%) | In 1 condition |
| PRTN3proteinase 3 | Very often (80–99%) | In 1 condition |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Very often (80–99%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Very often (80–99%) | In 3 conditions |
| PXKPX domain containing serine/threonine kinase like | Very often (80–99%) | In 1 condition |
| RPS20ribosomal protein S20 | Very often (80–99%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Very often (80–99%) | In 5 conditions |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Very often (80–99%) | In 4 conditions |
| SDHCsuccinate dehydrogenase complex subunit C | Very often (80–99%) | In 3 conditions |
| SEMA4Asemaphorin 4A | Very often (80–99%) | In 1 condition |
| SH2B3SH2B adaptor protein 3 | Very often (80–99%) | In 2 conditions |
| SLC26A4solute carrier family 26 member 4 | Very often (80–99%) | In 2 conditions |
| SPI1Spi-1 proto-oncogene | Very often (80–99%) | In 1 condition |
| SPP1secreted phosphoprotein 1 | Very often (80–99%) | In 1 condition |
| STAT4signal transducer and activator of transcription 4 | Very often (80–99%) | In 2 conditions |
| TBX19T-box transcription factor 19 | Very often (80–99%) | In 1 condition |
| TCF3transcription factor 3 | Very often (80–99%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Very often (80–99%) | In 5 conditions |
| TGFBR2transforming growth factor beta receptor 2 | Very often (80–99%) | In 1 condition |
| TLR4toll like receptor 4 | Very often (80–99%) | In 1 condition |
| TLR7toll like receptor 7 | Very often (80–99%) | In 1 condition |
| TNFAIP3TNF alpha induced protein 3 | Very often (80–99%) | In 1 condition |
| TNFSF4TNF superfamily member 4 | Very often (80–99%) | In 1 condition |
| TNIP1TNFAIP3 interacting protein 1 | Very often (80–99%) | In 1 condition |
| TP53tumor protein p53 | Very often (80–99%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Very often (80–99%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Very often (80–99%) | In 2 conditions |
| UBAC2UBA domain containing 2 | Very often (80–99%) | In 1 condition |
| UBE2L3ubiquitin conjugating enzyme E2 L3 | Very often (80–99%) | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Very often (80–99%) | In 1 condition |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Very often (80–99%) | In 1 condition |
| ABCA3ATP binding cassette subfamily A member 3 | Often (30–79%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Often (30–79%) | In 1 condition |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 1 condition |
| ACTC1actin alpha cardiac muscle 1 | Often (30–79%) | In 2 conditions |
| ACTN2actinin alpha 2 | Often (30–79%) | In 1 condition |
| ADGRV1adhesion G protein-coupled receptor V1 | Often (30–79%) | In 1 condition |
| ALKALK receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ANGangiogenin | Often (30–79%) | In 1 condition |
| ANKRD1ankyrin repeat domain 1 | Often (30–79%) | In 1 condition |
| ANXA11annexin A11 | Often (30–79%) | In 1 condition |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Often (30–79%) | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 2 conditions |
| ATP11AATPase phospholipid transporting 11A | Often (30–79%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Often (30–79%) | In 3 conditions |
| ATXN2ataxin 2 | Often (30–79%) | In 1 condition |
| BAG3BAG cochaperone 3 | Often (30–79%) | In 1 condition |
| BAG5BAG cochaperone 5 | Often (30–79%) | In 1 condition |
| BCL2BCL2 apoptosis regulator | Often (30–79%) | In 1 condition |
| BCL6BCL6 transcription repressor | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Often (30–79%) | In 1 condition |
| BMP6bone morphogenetic protein 6 | Often (30–79%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Often (30–79%) | In 1 condition |
| BTNL2butyrophilin like 2 | Often (30–79%) | In 1 condition |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Often (30–79%) | In 1 condition |
| CARMIL2capping protein regulator and myosin 1 linker 2 | Often (30–79%) | In 1 condition |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CCND1cyclin D1 | Often (30–79%) | In 2 conditions |
| CCNFcyclin F | Often (30–79%) | In 1 condition |
| CD46CD46 molecule | Often (30–79%) | In 1 condition |
| CDC73cell division cycle 73 | Often (30–79%) | In 2 conditions |
| CDH23cadherin related 23 | Often (30–79%) | In 2 conditions |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CFHcomplement factor H | Often (30–79%) | In 1 condition |
| CFIcomplement factor I | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 1 condition |
| CHMP2Bcharged multivesicular body protein 2B | Often (30–79%) | In 1 condition |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Often (30–79%) | In 2 conditions |
| CLCN7Cl-/H+ antiporter 7 | Often (30–79%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Often (30–79%) | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Often (30–79%) | In 1 condition |
| COL5A2collagen type V alpha 2 chain | Often (30–79%) | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Often (30–79%) | In 1 condition |
| CRYABcrystallin alpha B | Often (30–79%) | In 1 condition |
| CSRP3cysteine and glycine rich protein 3 | Often (30–79%) | In 1 condition |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| DAOD-amino acid oxidase | Often (30–79%) | In 1 condition |
| DBHdopamine beta-hydroxylase | Often (30–79%) | In 1 condition |
| DCTN1dynactin subunit 1 | Often (30–79%) | In 1 condition |
| DESdesmin | Often (30–79%) | In 1 condition |
| DLSTdihydrolipoamide S-succinyltransferase | Often (30–79%) | In 1 condition |
| DMDdystrophin | Often (30–79%) | In 2 conditions |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Often (30–79%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Often (30–79%) | In 1 condition |
| DOLKdolichol kinase | Often (30–79%) | In 1 condition |
| DPP9dipeptidyl peptidase 9 | Often (30–79%) | In 1 condition |
| DSG2desmoglein 2 | Often (30–79%) | In 1 condition |
| DSPdesmoplakin | Often (30–79%) | In 2 conditions |
| ELANEelastase, neutrophil expressed | Often (30–79%) | In 1 condition |
| EPAS1endothelial PAS domain protein 1 | Often (30–79%) | In 1 condition |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Often (30–79%) | In 1 condition |
| FAM13Afamily with sequence similarity 13 member A | Often (30–79%) | In 1 condition |
| FGF23fibroblast growth factor 23 | Often (30–79%) | In 1 condition |
| FHfumarate hydratase | Often (30–79%) | In 1 condition |
| FHL2four and a half LIM domains 2 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| FIP1L1factor interacting with PAPOLA and CPSF1 | Often (30–79%) | In 1 condition |
| FKTNfukutin | Often (30–79%) | In 1 condition |
| FLNCfilamin C | Often (30–79%) | In 1 condition |
| FOXA2forkhead box A2 | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 1 condition |
| GATA4GATA binding protein 4 | Often (30–79%) | In 2 conditions |
| GATA5GATA binding protein 5 | Often (30–79%) | In 1 condition |
| GATA6GATA binding protein 6 | Often (30–79%) | In 2 conditions |
| GATAD1GATA zinc finger domain containing 1 | Often (30–79%) | In 1 condition |
| GCH1GTP cyclohydrolase 1 | Often (30–79%) | In 1 condition |
| GCKglucokinase | Often (30–79%) | In 1 condition |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Often (30–79%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 1 condition |
| GLT8D1glycosyltransferase 8 domain containing 1 | Often (30–79%) | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Often (30–79%) | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| HAND2heart and neural crest derivatives expressed 2 | Often (30–79%) | In 1 condition |
| HAVCR2hepatitis A virus cellular receptor 2 | Often (30–79%) | In 1 condition |
| HELLPARHELLP associated long non-coding RNA | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 3 conditions |
| HFEhomeostatic iron regulator | Often (30–79%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Often (30–79%) | In 1 condition |
| IL36RNinterleukin 36 receptor antagonist | Often (30–79%) | In 1 condition |
| IMPDH2inosine monophosphate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| INSRinsulin receptor | Often (30–79%) | In 1 condition |
| IRF2BP2interferon regulatory factor 2 binding protein 2 | Often (30–79%) | In 1 condition |
| ITGA7integrin subunit alpha 7 | Often (30–79%) | In 1 condition |
| JPH2junctophilin 2 | Often (30–79%) | In 1 condition |
| KCNA5potassium voltage-gated channel subfamily A member 5 | Often (30–79%) | In 1 condition |
| KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1 | Often (30–79%) | In 1 condition |
| KCNE2potassium voltage-gated channel subfamily E regulatory subunit 2 | Often (30–79%) | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Often (30–79%) | In 1 condition |
| KCNJ3potassium inwardly rectifying channel subfamily J member 3 | Often (30–79%) | In 1 condition |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Often (30–79%) | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Often (30–79%) | In 1 condition |
| KIF1Bkinesin family member 1B | Often (30–79%) | In 1 condition |
| KIF23kinesin family member 23 | Often (30–79%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 2 conditions |
| LAMA4laminin subunit alpha 4 | Often (30–79%) | In 1 condition |
| LDB3LIM domain binding 3 | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 2 conditions |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Often (30–79%) | In 1 condition |
| LMO1LIM domain only 1 | Often (30–79%) | In 1 condition |
| LMOD2leiomodin 2 | Often (30–79%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Often (30–79%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Often (30–79%) | In 1 condition |
| MATR3matrin 3 | Often (30–79%) | In 1 condition |
| MAXMYC associated transcriptional regulator X | Often (30–79%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MEN1menin 1 | Often (30–79%) | In 2 conditions |
| METMET proto-oncogene, receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Often (30–79%) | In 1 condition |
| MUC5Bmucin 5B, oligomeric mucus/gel-forming | Often (30–79%) | In 1 condition |
| MYBPC3myosin binding protein C3 | Often (30–79%) | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Often (30–79%) | In 1 condition |
| MYH6myosin heavy chain 6 | Often (30–79%) | In 2 conditions |
| MYL2myosin light chain 2 | Often (30–79%) | In 1 condition |
| MYL4myosin light chain 4 | Often (30–79%) | In 1 condition |
| MYO7Amyosin VIIA | Often (30–79%) | In 1 condition |
| MYPNmyopalladin | Often (30–79%) | In 1 condition |
| MYT1Lmyelin transcription factor 1 like | Often (30–79%) | In 1 condition |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Often (30–79%) | In 1 condition |
| NABP1nucleic acid binding protein 1 | Often (30–79%) | In 1 condition |
| NEFHneurofilament heavy chain | Often (30–79%) | In 1 condition |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 1 condition |
| NF1neurofibromin 1 | Often (30–79%) | In 1 condition |
| NIT1nitrilase 1 | Often (30–79%) | In 1 condition |
| NKX2-6NK2 homeobox 6 | Often (30–79%) | In 1 condition |
| NPM1nucleophosmin 1 | Often (30–79%) | In 1 condition |
| NPPAnatriuretic peptide A | Often (30–79%) | In 2 conditions |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Often (30–79%) | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Often (30–79%) | In 1 condition |
| NUMA1nuclear mitotic apparatus protein 1 | Often (30–79%) | In 1 condition |
| NUP155nucleoporin 155 | Often (30–79%) | In 1 condition |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 2 conditions |
| OPTNoptineurin | Often (30–79%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 2 conditions |
| PARNpoly(A)-specific ribonuclease | Often (30–79%) | In 1 condition |
| PDGFRAplatelet derived growth factor receptor alpha | Often (30–79%) | In 1 condition |
| PDZD7PDZ domain containing 7 | Often (30–79%) | In 1 condition |
| PFN1profilin 1 | Often (30–79%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Often (30–79%) | In 1 condition |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Often (30–79%) | In 1 condition |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Often (30–79%) | In 1 condition |
| PHOX2Bpaired like homeobox 2B | Often (30–79%) | In 1 condition |
| PITX2paired like homeodomain 2 | Often (30–79%) | In 1 condition |
| PLNphospholamban | Often (30–79%) | In 1 condition |
| PMLPML nuclear body scaffold | Often (30–79%) | In 1 condition |
| PODXLpodocalyxin like | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Often (30–79%) | In 1 condition |
| POLR3GLRNA polymerase III subunit GL | Often (30–79%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 2 conditions |
| PPCSphosphopantothenoylcysteine synthetase | Often (30–79%) | In 1 condition |
| PRDM16PR/SET domain 16 | Often (30–79%) | In 1 condition |
| PREPLprolyl endopeptidase like | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 3 conditions |
| PRPHperipherin | Often (30–79%) | In 1 condition |
| PSEN1presenilin 1 | Often (30–79%) | In 1 condition |
| PSEN2presenilin 2 | Often (30–79%) | In 1 condition |
| PTPN3protein tyrosine phosphatase non-receptor type 3 | Often (30–79%) | In 1 condition |
| RACGAP1Rac GTPase activating protein 1 | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Often (30–79%) | In 1 condition |
| RARAretinoic acid receptor alpha | Often (30–79%) | In 1 condition |
| RBM20RNA binding motif protein 20 | Often (30–79%) | In 1 condition |
| RETret proto-oncogene | Often (30–79%) | In 2 conditions |
| ROS1ROS proto-oncogene 1, receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| RPL3Lribosomal protein L3 like | Often (30–79%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Often (30–79%) | In 2 conditions |
| RTEL1regulator of telomere elongation helicase 1 | Often (30–79%) | In 1 condition |
| RUNX1RUNX family transcription factor 1 | Often (30–79%) | In 2 conditions |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Often (30–79%) | In 1 condition |
| SCN2Bsodium voltage-gated channel beta subunit 2 | Often (30–79%) | In 1 condition |
| SCN3Bsodium voltage-gated channel beta subunit 3 | Often (30–79%) | In 1 condition |
| SCN4Bsodium voltage-gated channel beta subunit 4 | Often (30–79%) | In 1 condition |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Often (30–79%) | In 3 conditions |
| SCNN1Asodium channel epithelial 1 subunit alpha | Often (30–79%) | In 1 condition |
| SCNN1Bsodium channel epithelial 1 subunit beta | Often (30–79%) | In 1 condition |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Often (30–79%) | In 1 condition |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 2 conditions |
| SELENONselenoprotein N | Often (30–79%) | In 1 condition |
| SFTPA1surfactant protein A1 | Often (30–79%) | In 1 condition |
| SFTPA2surfactant protein A2 | Often (30–79%) | In 1 condition |
| SFTPCsurfactant protein C | Often (30–79%) | In 1 condition |
| SGCDsarcoglycan delta | Often (30–79%) | In 1 condition |
| SLC25A11solute carrier family 25 member 11 | Often (30–79%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Often (30–79%) | In 1 condition |
| SLC34A2solute carrier family 34 member 2 | Often (30–79%) | In 1 condition |
| SLC3A1solute carrier family 3 member 1 | Often (30–79%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 1 condition |
| SOD1superoxide dismutase 1 | Often (30–79%) | In 1 condition |
| SOX17SRY-box transcription factor 17 | Often (30–79%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Often (30–79%) | In 2 conditions |
| SQSTM1sequestosome 1 | Often (30–79%) | In 1 condition |
| SRSF2serine and arginine rich splicing factor 2 | Often (30–79%) | In 2 conditions |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| STAT5Bsignal transducer and activator of transcription 5B | Often (30–79%) | In 1 condition |
| STEAP3STEAP3 metalloreductase | Often (30–79%) | In 1 condition |
| STN1STN1 subunit of CST complex | Often (30–79%) | In 1 condition |
| SYNJ1synaptojanin 1 | Often (30–79%) | In 2 conditions |
| TAF15TATA-box binding protein associated factor 15 | Often (30–79%) | In 1 condition |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Often (30–79%) | In 1 condition |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 1 condition |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 2 conditions |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 1 condition |
| TBX20T-box transcription factor 20 | Often (30–79%) | In 1 condition |
| TCAPtitin-cap | Often (30–79%) | In 1 condition |
| TERCtelomerase RNA component | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TICAM1TIR domain containing adaptor molecule 1 | Often (30–79%) | In 1 condition |
| TLL1tolloid like 1 | Often (30–79%) | In 2 conditions |
| TLR3toll like receptor 3 | Often (30–79%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Often (30–79%) | In 1 condition |
| TMEM127transmembrane protein 127 | Often (30–79%) | In 1 condition |
| TMPOthymopoietin | Often (30–79%) | In 1 condition |
| TNNC1troponin C1, slow skeletal and cardiac type | Often (30–79%) | In 1 condition |
| TNNI3troponin I3, cardiac type | Often (30–79%) | In 1 condition |
| TNNT2troponin T2, cardiac type | Often (30–79%) | In 1 condition |
| TNXBtenascin XB | Often (30–79%) | In 1 condition |
| TPM1tropomyosin 1 | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 2 conditions |
| TPM3tropomyosin 3 | Often (30–79%) | In 1 condition |
| TRAF3TNF receptor associated factor 3 | Often (30–79%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Often (30–79%) | In 1 condition |
| TRHRthyrotropin releasing hormone receptor | Often (30–79%) | In 2 conditions |
| TRIOtrio Rho guanine nucleotide exchange factor | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| TTNtitin | Often (30–79%) | In 2 conditions |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 2 conditions |
| TXNRD2thioredoxin reductase 2 | Often (30–79%) | In 1 condition |
| UBQLN2ubiquilin 2 | Often (30–79%) | In 1 condition |
| UNC13Aunc-13 homolog A | Often (30–79%) | In 1 condition |
| UNC93B1unc-93B1 regulator of TLR signaling | Often (30–79%) | In 1 condition |
| USH2Ausherin | Often (30–79%) | In 1 condition |
| VAPBVAMP associated protein B and C | Often (30–79%) | In 2 conditions |
| VCLvinculin | Often (30–79%) | In 1 condition |
| VCPvalosin containing protein | Often (30–79%) | In 1 condition |
| VEZF1vascular endothelial zinc finger 1 | Often (30–79%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Often (30–79%) | In 3 conditions |
| WASWASP actin nucleation promoting factor | Often (30–79%) | In 1 condition |
| WHRNwhirlin | Often (30–79%) | In 1 condition |
| ZBTB16zinc finger and BTB domain containing 16 | Often (30–79%) | In 1 condition |
| ABCC2ATP binding cassette subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Sometimes (5–29%) | In 1 condition |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Sometimes (5–29%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Sometimes (5–29%) | In 1 condition |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Sometimes (5–29%) | In 1 condition |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| C1QBPcomplement C1q binding protein | Sometimes (5–29%) | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Sometimes (5–29%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| EPB41erythrocyte membrane protein band 4.1 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FTLferritin light chain | Sometimes (5–29%) | In 1 condition |
| GIMAP5GTPase, IMAP family member 5 | Sometimes (5–29%) | In 1 condition |
| GPR35G protein-coupled receptor 35 | Sometimes (5–29%) | In 1 condition |
| GRM1glutamate metabotropic receptor 1 | Sometimes (5–29%) | In 1 condition |
| GYPCglycophorin C (Gerbich blood group) | Sometimes (5–29%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sometimes (5–29%) | In 1 condition |
| IGHG2immunoglobulin heavy constant gamma 2 (G2m marker) | Sometimes (5–29%) | In 1 condition |
| IGKCimmunoglobulin kappa constant | Sometimes (5–29%) | In 1 condition |
| IL12RB1interleukin 12 receptor subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| KPNA3karyopherin subunit alpha 3 | Sometimes (5–29%) | In 1 condition |
| MMEL1membrane metalloendopeptidase like 1 | Sometimes (5–29%) | In 1 condition |
| MST1macrophage stimulating 1 | Sometimes (5–29%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sometimes (5–29%) | In 1 condition |
| MYD88MYD88 innate immune signal transduction adaptor | Sometimes (5–29%) | In 1 condition |
| NAB2NGFI-A binding protein 2 | Sometimes (5–29%) | In 1 condition |
| NAGSN-acetylglutamate synthase | Sometimes (5–29%) | In 1 condition |
| NAXENAD(P)HX epimerase | Sometimes (5–29%) | In 1 condition |
| PGM1phosphoglucomutase 1 | Sometimes (5–29%) | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Sometimes (5–29%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sometimes (5–29%) | In 2 conditions |
| PHKBphosphorylase kinase regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| PLECplectin | Sometimes (5–29%) | In 1 condition |
| POU2AF1POU class 2 homeobox associating factor 1 | Sometimes (5–29%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sometimes (5–29%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 1 condition |
| PYGMglycogen phosphorylase, muscle associated | Sometimes (5–29%) | In 1 condition |
| RHAGRh associated glycoprotein | Sometimes (5–29%) | In 1 condition |
| SEMA4Dsemaphorin 4D | Sometimes (5–29%) | In 1 condition |
| SIsucrase-isomaltase | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SLC40A1solute carrier family 40 member 1 | Sometimes (5–29%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SPIBSpi-B transcription factor | Sometimes (5–29%) | In 1 condition |
| SPTA1spectrin alpha, erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| SPTBspectrin beta, erythrocytic | Sometimes (5–29%) | In 1 condition |
| STAT1signal transducer and activator of transcription 1 | Sometimes (5–29%) | In 1 condition |
| STAT6signal transducer and activator of transcription 6 | Sometimes (5–29%) | In 1 condition |
| TCF4transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TNFSF15TNF superfamily member 15 | Sometimes (5–29%) | In 1 condition |
| TNPO3transportin 3 | Sometimes (5–29%) | In 1 condition |
| TSC1TSC complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| TSC2TSC complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| UNC45Bunc-45 myosin chaperone B | Sometimes (5–29%) | In 1 condition |
| YY1YY1 transcription factor | Sometimes (5–29%) | In 1 condition |
| DNM1Ldynamin 1L | Rarely (1–4%) | In 1 condition |
| PPIBpeptidylprolyl isomerase B | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| AGKacylglycerol kinase | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ARMC5armadillo repeat containing 5 | Not recorded | In 1 condition |
| CAV3caveolin 3 | Not recorded | In 1 condition |
| CD244CD244 molecule | Not recorded | In 1 condition |
| CIITAclass II major histocompatibility complex transactivator | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| DYSFdysferlin | Not recorded | In 1 condition |
| NFKBIL1NFKB inhibitor like 1 | Not recorded | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Not recorded | In 1 condition |
| SERPINA6serpin family A member 6 | Not recorded | In 1 condition |
| SLC12A3solute carrier family 12 member 3 | Not recorded | In 1 condition |
| SLC18A3solute carrier family 18 member A3 | Not recorded | In 1 condition |
| SLC22A4solute carrier family 22 member 4 | Not recorded | In 1 condition |
| SLC25A26solute carrier family 25 member 26 | Not recorded | In 1 condition |
| TFR2transferrin receptor 2 | Not recorded | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | 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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