Trait
Elevated blood creatine phosphokinase
Clinical name: Elevated circulating creatine kinase activity
The activity of creatine kinase in the blood circulation is above the upper limit of normal.
Summary
- Also called
- Elevated circulating creatine phosphokinase, Elevated creatine kinase, Elevated serum CPK, Elevated serum creatine kinase, Elevated serum creatine phosphokinase, High serum creatine kinase, Increased CPK, Increased creatine kinase, Increased creatine phosphokinase, Increased serum CK, Increased serum creatine kinase, Increased serum creatine phosphokinase, Elevated creatine kinase concentration, Elevated creatine kinase level, Elevated creatine kinase level in blood, Increased creatine kinase concentration, Increased creatine kinase level, Increased creatine kinase level in blood
- Body system
- Laboratory abnormality
Reference genomeGRCh38hg38
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Get my Genome Test286 genes linked to Elevated blood creatine phosphokinase
Changes in these genes cause rare conditions in which Elevated blood creatine phosphokinase 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 |
|---|---|---|
| ADRA2Aadrenoceptor alpha 2A | Always | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Always | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Always | In 1 condition |
| ANO5anoctamin 5 | Always | In 4 conditions |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Always | In 2 conditions |
| B4GALT1beta-1,4-galactosyltransferase 1 | Always | In 2 conditions |
| BAG3BAG cochaperone 3 | Always | In 3 conditions |
| CAPN3calpain 3 | Always | In 3 conditions |
| CAV3caveolin 3 | Always | In 4 conditions |
| CAVIN1caveolae associated protein 1 | Always | In 1 condition |
| CHKBcholine kinase beta | Always | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Always | In 2 conditions |
| COG8component of oligomeric golgi complex 8 | Always | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Always | In 3 conditions |
| COL6A2collagen type VI alpha 2 chain | Always | In 5 conditions |
| CPT2carnitine palmitoyltransferase 2 | Always | In 5 conditions |
| CRPPACDP-L-ribitol pyrophosphorylase A | Always | In 3 conditions |
| CRYABcrystallin alpha B | Always | In 2 conditions |
| DAG1dystroglycan 1 | Always | In 5 conditions |
| DMDdystrophin | Always | In 5 conditions |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Always | In 1 condition |
| DPYSdihydropyrimidinase | Always | In 1 condition |
| DTNAdystrobrevin alpha | Always | In 1 condition |
| DYSFdysferlin | Always | In 4 conditions |
| EMDemerin | Always | In 2 conditions |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 2 conditions |
| FAM111BFAM111 trypsin like peptidase B | Always | In 1 condition |
| FHL1four and a half LIM domains 1 | Always | In 6 conditions |
| FKRPfukutin related protein | Always | In 8 conditions |
| FKTNfukutin | Always | In 6 conditions |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| GAAalpha glucosidase | Always | In 3 conditions |
| GGPS1geranylgeranyl diphosphate synthase 1 | Always | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Always | In 8 conditions |
| GOLGA2golgin A2 | Always | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Always | In 2 conditions |
| GUK1guanylate kinase 1 | Always | In 1 condition |
| HHAThedgehog acyltransferase | Always | In 1 condition |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Always | In 1 condition |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Always | In 1 condition |
Show 246 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Always | In 2 conditions |
| INPP5Kinositol polyphosphate-5-phosphatase K | Always | In 1 condition |
| ISCUiron-sulfur cluster assembly enzyme | Always | In 1 condition |
| KYkyphoscoliosis peptidase | Always | In 1 condition |
| LAMA2laminin subunit alpha 2 | Always | In 2 conditions |
| LAMP2lysosome associated membrane protein 2 | Always | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 5 conditions |
| LMNAlamin A/C | Always | In 5 conditions |
| LPIN1lipin 1 | Always | In 1 condition |
| MBmyoglobin | Always | In 1 condition |
| MEGF10multiple EGF like domains 10 | Always | In 1 condition |
| MICU1mitochondrial calcium uptake 1 | Always | In 1 condition |
| MIEF2mitochondrial elongation factor 2 | Always | In 1 condition |
| MLIPmuscular LMNA interacting protein | Always | In 1 condition |
| MVKmevalonate kinase | Always | In 1 condition |
| MYH7myosin heavy chain 7 | Always | In 2 conditions |
| MYOTmyotilin | Always | In 2 conditions |
| NFS1NFS1 cysteine desulfurase | Always | In 1 condition |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Always | In 1 condition |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Always | In 1 condition |
| PANK2pantothenate kinase 2 | Always | In 1 condition |
| PET100PET100 cytochrome c oxidase chaperone | Always | In 1 condition |
| PFKMphosphofructokinase, muscle | Always | In 1 condition |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Always | In 2 conditions |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Always | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Always | In 2 conditions |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 5 conditions |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Always | In 1 condition |
| POMKprotein O-mannose kinase | Always | In 3 conditions |
| POMT1protein O-mannosyltransferase 1 | Always | In 7 conditions |
| POMT2protein O-mannosyltransferase 2 | Always | In 8 conditions |
| PSMB9proteasome 20S subunit beta 9 | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RTN2reticulon 2 | Always | In 1 condition |
| SGCAsarcoglycan alpha | Always | In 2 conditions |
| SGCBsarcoglycan beta | Always | In 2 conditions |
| SGCDsarcoglycan delta | Always | In 1 condition |
| SLC16A1solute carrier family 16 member 1 | Always | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Always | In 2 conditions |
| SQORsulfide quinone oxidoreductase | Always | In 1 condition |
| STIM1stromal interaction molecule 1 | Always | In 2 conditions |
| SUOXsulfite oxidase | Always | In 1 condition |
| SVILsupervillin | Always | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Always | In 2 conditions |
| SYNJ1synaptojanin 1 | Always | In 1 condition |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Always | In 1 condition |
| TANGO2transport and golgi organization 2 homolog | Always | In 2 conditions |
| TIMM22translocase of inner mitochondrial membrane 22 | Always | In 1 condition |
| TK2thymidine kinase 2 | Always | In 3 conditions |
| TMEM165transmembrane protein 165 | Always | In 1 condition |
| TNNT1troponin T1, slow skeletal type | Always | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Always | In 2 conditions |
| TRAPPC11trafficking protein particle complex subunit 11 | Always | In 1 condition |
| TTNtitin | Always | In 4 conditions |
| TUBA4Atubulin alpha 4a | Always | In 2 conditions |
| UBA1ubiquitin like modifier activating enzyme 1 | Always | In 1 condition |
| UQCRFS1ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 | Always | In 1 condition |
| VMA12vacuolar ATPase assembly factor VMA12 | Always | In 1 condition |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Always | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Very often (80–99%) | In 2 conditions |
| ADSS1adenylosuccinate synthase 1 | Very often (80–99%) | In 1 condition |
| ANXA11annexin A11 | Very often (80–99%) | In 1 condition |
| CASQ1calsequestrin 1 | Very often (80–99%) | In 2 conditions |
| COL12A1collagen type XII alpha 1 chain | Very often (80–99%) | In 3 conditions |
| COL6A1collagen type VI alpha 1 chain | Very often (80–99%) | In 3 conditions |
| COL6A3collagen type VI alpha 3 chain | Very often (80–99%) | In 3 conditions |
| DMGDHdimethylglycine dehydrogenase | Very often (80–99%) | In 2 conditions |
| DNMT3BDNA methyltransferase 3 beta | Very often (80–99%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Very often (80–99%) | In 2 conditions |
| DUX4double homeobox 4 | Very often (80–99%) | In 1 condition |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Very often (80–99%) | In 1 condition |
| FRG1FSHD region gene 1 | Very often (80–99%) | In 2 conditions |
| GIPC1GIPC PDZ domain containing family member 1 | Very often (80–99%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Very often (80–99%) | In 1 condition |
| HINT1histidine triad nucleotide binding protein 1 | Very often (80–99%) | In 2 conditions |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Very often (80–99%) | In 2 conditions |
| HSPB8heat shock protein family B (small) member 8 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 2 conditions |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Very often (80–99%) | In 2 conditions |
| LIPElipase E, hormone sensitive type | Very often (80–99%) | In 2 conditions |
| LTBP4latent transforming growth factor beta binding protein 4 | Very often (80–99%) | In 1 condition |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Very often (80–99%) | In 1 condition |
| PYGMglycogen phosphorylase, muscle associated | Very often (80–99%) | In 2 conditions |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Very often (80–99%) | In 2 conditions |
| SIL1SIL1 nucleotide exchange factor | Very often (80–99%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Very often (80–99%) | In 1 condition |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Very often (80–99%) | In 2 conditions |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 2 conditions |
| TMEM43transmembrane protein 43 | Very often (80–99%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Very often (80–99%) | In 2 conditions |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Very often (80–99%) | In 1 condition |
| VCPvalosin containing protein | Very often (80–99%) | In 4 conditions |
| ADKadenosine kinase | Often (30–79%) | In 1 condition |
| AHCYadenosylhomocysteinase | Often (30–79%) | In 1 condition |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Often (30–79%) | In 1 condition |
| APTXaprataxin | Often (30–79%) | In 2 conditions |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Often (30–79%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Often (30–79%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Often (30–79%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Often (30–79%) | In 1 condition |
| CA2carbonic anhydrase 2 | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 3 conditions |
| CLIP2CAP-Gly domain containing linker protein 2 | Often (30–79%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Often (30–79%) | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Often (30–79%) | In 1 condition |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Often (30–79%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Often (30–79%) | In 1 condition |
| DNM2dynamin 2 | Often (30–79%) | In 2 conditions |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Often (30–79%) | In 2 conditions |
| EIF4Heukaryotic translation initiation factor 4H | Often (30–79%) | In 1 condition |
| ELNelastin | Often (30–79%) | In 1 condition |
| FKBP14FKBP prolyl isomerase 14 | Often (30–79%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Often (30–79%) | In 1 condition |
| GATBglutamyl-tRNA amidotransferase subunit B | Often (30–79%) | In 1 condition |
| GATCglutamyl-tRNA amidotransferase subunit C | Often (30–79%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Often (30–79%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Often (30–79%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Often (30–79%) | In 1 condition |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Often (30–79%) | In 1 condition |
| INF2inverted formin 2 | Often (30–79%) | In 1 condition |
| ISCA1iron-sulfur cluster assembly 1 | Often (30–79%) | In 2 conditions |
| ITGA7integrin subunit alpha 7 | Often (30–79%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Often (30–79%) | In 1 condition |
| JAG2jagged canonical Notch ligand 2 | Often (30–79%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Often (30–79%) | In 1 condition |
| MATR3matrin 3 | Often (30–79%) | In 1 condition |
| METTL27methyltransferase like 27 | Often (30–79%) | In 1 condition |
| MFN2mitofusin 2 | Often (30–79%) | In 1 condition |
| MGME1mitochondrial genome maintenance exonuclease 1 | Often (30–79%) | In 2 conditions |
| MPZmyelin protein zero | Often (30–79%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 1 condition |
| MTMR14myotubularin related protein 14 | Often (30–79%) | In 1 condition |
| MYL2myosin light chain 2 | Often (30–79%) | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Often (30–79%) | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| NAXDNAD(P)HX dehydratase | Often (30–79%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Often (30–79%) | In 1 condition |
| NEFHneurofilament heavy chain | Often (30–79%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Often (30–79%) | In 1 condition |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Often (30–79%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 2 conditions |
| PDK3pyruvate dehydrogenase kinase 3 | Often (30–79%) | In 1 condition |
| PGAM2phosphoglycerate mutase 2 | Often (30–79%) | In 2 conditions |
| PGM1phosphoglucomutase 1 | Often (30–79%) | In 1 condition |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Often (30–79%) | In 1 condition |
| PLA2G6phospholipase A2 group VI | Often (30–79%) | In 1 condition |
| PLECplectin | Often (30–79%) | In 3 conditions |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Often (30–79%) | In 2 conditions |
| POPDC1popeye domain cAMP effector 1 | Often (30–79%) | In 1 condition |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Often (30–79%) | In 1 condition |
| QRSL1glutaminyl-tRNA amidotransferase subunit QRSL1 | Often (30–79%) | In 1 condition |
| RFC2replication factor C subunit 2 | Often (30–79%) | In 1 condition |
| RILPL1Rab interacting lysosomal protein like 1 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 5 conditions |
| SGCGsarcoglycan gamma | Often (30–79%) | In 2 conditions |
| STX1Asyntaxin 1A | Often (30–79%) | In 1 condition |
| TBCDtubulin folding cofactor D | Often (30–79%) | In 2 conditions |
| TBL2transducin beta like 2 | Often (30–79%) | In 1 condition |
| TFGtrafficking from ER to golgi regulator | Often (30–79%) | In 1 condition |
| TMEM270transmembrane protein 270 | Often (30–79%) | In 1 condition |
| TOR1AIP1torsin 1A interacting protein 1 | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 2 conditions |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Often (30–79%) | In 1 condition |
| TSFMTs translation elongation factor, mitochondrial | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| VPS13Avacuolar protein sorting 13 homolog A | Often (30–79%) | In 2 conditions |
| VPS37DVPS37D subunit of ESCRT-I | Often (30–79%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Sometimes (5–29%) | In 1 condition |
| ACADVLacyl-CoA dehydrogenase very long chain | Sometimes (5–29%) | In 2 conditions |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AMACRalpha-methylacyl-CoA racemase | Sometimes (5–29%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Sometimes (5–29%) | In 1 condition |
| C1QBPcomplement C1q binding protein | Sometimes (5–29%) | In 1 condition |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Sometimes (5–29%) | In 1 condition |
| CFL2cofilin 2 | Sometimes (5–29%) | In 1 condition |
| COQ4coenzyme Q4 | Sometimes (5–29%) | In 1 condition |
| DHX16DEAH-box helicase 16 | Sometimes (5–29%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| FLAD1flavin adenine dinucleotide synthetase 1 | Sometimes (5–29%) | In 1 condition |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Sometimes (5–29%) | In 1 condition |
| GYG1glycogenin 1 | Sometimes (5–29%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LAMA1laminin subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Sometimes (5–29%) | In 1 condition |
| MPDU1mannose-P-dolichol utilization defect 1 | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PABPN1poly(A) binding protein nuclear 1 | Sometimes (5–29%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| PHKBphosphorylase kinase regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 1 condition |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Sometimes (5–29%) | In 1 condition |
| PITRM1pitrilysin metallopeptidase 1 | Sometimes (5–29%) | In 1 condition |
| PLXNA1plexin A1 | Sometimes (5–29%) | In 1 condition |
| POGLUT1protein O-glucosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sometimes (5–29%) | In 2 conditions |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 1 condition |
| SETXsenataxin | Sometimes (5–29%) | In 2 conditions |
| SLC22A5solute carrier family 22 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Sometimes (5–29%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 2 conditions |
| VAPBVAMP associated protein B and C | Sometimes (5–29%) | In 1 condition |
| VMA22vacuolar ATPase assembly factor VMA22 | Sometimes (5–29%) | In 1 condition |
| FDX2ferredoxin 2 | Rarely (1–4%) | In 1 condition |
| ABCD3ATP binding cassette subfamily D member 3 | Not recorded | In 1 condition |
| ACTN2actinin alpha 2 | Not recorded | In 1 condition |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Not recorded | In 1 condition |
| ARandrogen receptor | Not recorded | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Not recorded | In 1 condition |
| C19orf12chromosome 19 open reading frame 12 | Not recorded | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Not recorded | In 1 condition |
| COA7cytochrome c oxidase assembly factor 7 | Not recorded | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| COX20cytochrome c oxidase assembly factor COX20 | Not recorded | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Not recorded | In 1 condition |
| ENO3enolase 3 | Not recorded | In 1 condition |
| FLNCfilamin C | Not recorded | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Not recorded | In 1 condition |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Not recorded | In 1 condition |
| LDB3LIM domain binding 3 | Not recorded | In 1 condition |
| LDHAlactate dehydrogenase A | Not recorded | In 1 condition |
| LIMS2LIM zinc finger domain containing 2 | Not recorded | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Not recorded | In 1 condition |
| NEFLneurofilament light chain | Not recorded | In 1 condition |
| PLIN4perilipin 4 | Not recorded | In 1 condition |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Not recorded | In 1 condition |
| SLC25A20solute carrier family 25 member 20 | Not recorded | In 1 condition |
| SLC25A42solute carrier family 25 member 42 | Not recorded | In 1 condition |
| SQSTM1sequestosome 1 | Not recorded | In 1 condition |
| TCAPtitin-cap | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Not recorded | In 1 condition |
| VMA21vacuolar ATPase assembly factor VMA21 | 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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