Trait
Decreased reflex response
Clinical name: Hyporeflexia
Reduction of neurologic reflexes such as the knee-jerk reaction.
Summary
- Also called
- Decreased reflexes
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Decreased reflex response 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 |
|---|---|---|
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Always | In 1 condition |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Always | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Always | In 1 condition |
| COA7cytochrome c oxidase assembly factor 7 | Always | In 1 condition |
| COX8Acytochrome c oxidase subunit 8A | Always | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Always | In 1 condition |
| DHHdesert hedgehog signaling molecule | Always | In 1 condition |
| DHTKD1dehydrogenase E1 and transketolase domain containing 1 | Always | In 1 condition |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Always | In 2 conditions |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Always | In 1 condition |
| EXOSC1exosome component 1 | Always | In 1 condition |
| GAAalpha glucosidase | Always | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Always | In 2 conditions |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KYkyphoscoliosis peptidase | Always | In 1 condition |
| LPIN1lipin 1 | Always | In 1 condition |
| LRP4LDL receptor related protein 4 | Always | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
| LRRK1leucine rich repeat kinase 1 | Always | In 1 condition |
| MFN2mitofusin 2 | Always | In 3 conditions |
| MMEmembrane metalloendopeptidase | Always | In 3 conditions |
| MPZmyelin protein zero | Always | In 7 conditions |
| MYH7myosin heavy chain 7 | Always | In 1 condition |
| NAV3neuron navigator 3 | Always | In 1 condition |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Always | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Always | In 2 conditions |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 8 conditions |
| PNPLA6patatin like domain 6, lysophospholipase | Always | In 2 conditions |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Always | In 1 condition |
| POMKprotein O-mannose kinase | Always | In 2 conditions |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Always | In 1 condition |
| PSAPprosaposin | Always | In 6 conditions |
| PUM1pumilio RNA binding family member 1 | Always | In 1 condition |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Always | In 1 condition |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Always | In 1 condition |
| REEP1receptor accessory protein 1 | Always | In 1 condition |
| RNF170ring finger protein 170 | Always | In 1 condition |
Show 355 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SNIP1Smad nuclear interacting protein 1 | Always | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Always | In 2 conditions |
| TRIM63tripartite motif containing 63 | Always | In 1 condition |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 1 condition |
| VAPBVAMP associated protein B and C | Always | In 1 condition |
| WWOXWW domain containing oxidoreductase | Always | In 2 conditions |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Very often (80–99%) | In 1 condition |
| ARandrogen receptor | Very often (80–99%) | In 2 conditions |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 1 condition |
| DAG1dystroglycan 1 | Very often (80–99%) | In 1 condition |
| ELOVL4ELOVL fatty acid elongase 4 | Very often (80–99%) | In 2 conditions |
| ELP1elongator acetyltransferase complex subunit 1 | Very often (80–99%) | In 2 conditions |
| EMC1ER membrane protein complex subunit 1 | Very often (80–99%) | In 2 conditions |
| EXOSC3exosome component 3 | Very often (80–99%) | In 1 condition |
| EXOSC8exosome component 8 | Very often (80–99%) | In 1 condition |
| EXOSC9exosome component 9 | Very often (80–99%) | In 2 conditions |
| FHL1four and a half LIM domains 1 | Very often (80–99%) | In 3 conditions |
| FKRPfukutin related protein | Very often (80–99%) | In 2 conditions |
| FKTNfukutin | Very often (80–99%) | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| MYOTmyotilin | Very often (80–99%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Very often (80–99%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 2 conditions |
| RAI1retinoic acid induced 1 | Very often (80–99%) | In 2 conditions |
| RUBCNrubicon autophagy regulator | Very often (80–99%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| RYR1ryanodine receptor 1 | Very often (80–99%) | In 2 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Very often (80–99%) | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Very often (80–99%) | In 2 conditions |
| SNX14sorting nexin 14 | Very often (80–99%) | In 2 conditions |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Very often (80–99%) | In 2 conditions |
| TBCKTBC1 domain containing kinase | Very often (80–99%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Very often (80–99%) | In 1 condition |
| TUBA8tubulin alpha 8 | Very often (80–99%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Very often (80–99%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 3 conditions |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 6 conditions |
| ACTL6Bactin like 6B | Often (30–79%) | In 1 condition |
| ALDH5A1aldehyde dehydrogenase 5 family member A1 | Often (30–79%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Often (30–79%) | In 2 conditions |
| ARSAarylsulfatase A | Often (30–79%) | In 4 conditions |
| ATN1atrophin 1 | Often (30–79%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Often (30–79%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 1 condition |
| ATXN2ataxin 2 | Often (30–79%) | In 2 conditions |
| BEAN1brain expressed associated with NEDD4 1 | Often (30–79%) | In 1 condition |
| C19orf12chromosome 19 open reading frame 12 | Often (30–79%) | In 2 conditions |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Often (30–79%) | In 1 condition |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Often (30–79%) | In 1 condition |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Often (30–79%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Often (30–79%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Often (30–79%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Often (30–79%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Often (30–79%) | In 1 condition |
| CFL2cofilin 2 | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 4 conditions |
| CLTCclathrin heavy chain | Often (30–79%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Often (30–79%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Often (30–79%) | In 2 conditions |
| COG7component of oligomeric golgi complex 7 | Often (30–79%) | In 2 conditions |
| COL13A1collagen type XIII alpha 1 chain | Often (30–79%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Often (30–79%) | In 1 condition |
| CRYABcrystallin alpha B | Often (30–79%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Often (30–79%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Often (30–79%) | In 1 condition |
| DBHdopamine beta-hydroxylase | Often (30–79%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Often (30–79%) | In 1 condition |
| DGUOKdeoxyguanosine kinase | Often (30–79%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Often (30–79%) | In 1 condition |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Often (30–79%) | In 1 condition |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Often (30–79%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 1 condition |
| FBXO28F-box protein 28 | Often (30–79%) | In 2 conditions |
| FGF12fibroblast growth factor 12 | Often (30–79%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Often (30–79%) | In 2 conditions |
| FOXG1forkhead box G1 | Often (30–79%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Often (30–79%) | In 2 conditions |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Often (30–79%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Often (30–79%) | In 1 condition |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Often (30–79%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Often (30–79%) | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Often (30–79%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Often (30–79%) | In 1 condition |
| GBE11,4-alpha-glucan branching enzyme 1 | Often (30–79%) | In 1 condition |
| GEMIN4gem nuclear organelle associated protein 4 | Often (30–79%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Often (30–79%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Often (30–79%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 2 conditions |
| KBTBD13kelch repeat and BTB domain containing 13 | Often (30–79%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Often (30–79%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Often (30–79%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Often (30–79%) | In 1 condition |
| KCND3potassium voltage-gated channel subfamily D member 3 | Often (30–79%) | In 2 conditions |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Often (30–79%) | In 1 condition |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Often (30–79%) | In 2 conditions |
| KLHL41kelch like family member 41 | Often (30–79%) | In 3 conditions |
| LAMB2laminin subunit beta 2 | Often (30–79%) | In 3 conditions |
| LGI3leucine rich repeat LGI family member 3 | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 1 condition |
| LMOD3leiomodin 3 | Often (30–79%) | In 1 condition |
| MAGmyelin associated glycoprotein | Often (30–79%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Often (30–79%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| MGME1mitochondrial genome maintenance exonuclease 1 | Often (30–79%) | In 2 conditions |
| MORC2MORC family CW-type zinc finger 2 | Often (30–79%) | In 2 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Often (30–79%) | In 2 conditions |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 2 conditions |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Often (30–79%) | In 1 condition |
| MYH14myosin heavy chain 14 | Often (30–79%) | In 1 condition |
| MYPNmyopalladin | Often (30–79%) | In 1 condition |
| NAGLUN-acetyl-alpha-glucosaminidase | Often (30–79%) | In 1 condition |
| NARS1asparaginyl-tRNA synthetase 1 | Often (30–79%) | In 2 conditions |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 4 conditions |
| NECAP1NECAP endocytosis associated 1 | Often (30–79%) | In 1 condition |
| NEFLneurofilament light chain | Often (30–79%) | In 4 conditions |
| NGLY1N-glycanase 1 | Often (30–79%) | In 2 conditions |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Often (30–79%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Often (30–79%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| PDHBpyruvate dehydrogenase E1 subunit beta | Often (30–79%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 2 conditions |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 2 conditions |
| PLP1proteolipid protein 1 | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 2 conditions |
| PODXLpodocalyxin like | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 6 conditions |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PRDM13PR/SET domain 13 | Often (30–79%) | In 2 conditions |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 1 condition |
| QRICH1glutamine rich 1 | Often (30–79%) | In 1 condition |
| RFC1replication factor C subunit 1 | Often (30–79%) | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Often (30–79%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Often (30–79%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Often (30–79%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Often (30–79%) | In 1 condition |
| SCYL1SCY1 like pseudokinase 1 | Often (30–79%) | In 2 conditions |
| SELENONselenoprotein N | Often (30–79%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Often (30–79%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Often (30–79%) | In 1 condition |
| SLC25A1solute carrier family 25 member 1 | Often (30–79%) | In 1 condition |
| SLC25A4solute carrier family 25 member 4 | Often (30–79%) | In 2 conditions |
| SLC38A3solute carrier family 38 member 3 | Often (30–79%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Often (30–79%) | In 2 conditions |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Often (30–79%) | In 1 condition |
| SYNJ1synaptojanin 1 | Often (30–79%) | In 2 conditions |
| SZT2SZT2 subunit of KICSTOR complex | Often (30–79%) | In 2 conditions |
| TBC1D24TBC1 domain family member 24 | Often (30–79%) | In 2 conditions |
| TPM2tropomyosin 2 | Often (30–79%) | In 3 conditions |
| TPM3tropomyosin 3 | Often (30–79%) | In 2 conditions |
| TRAK1trafficking kinesin protein 1 | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 1 condition |
| TRMT5tRNA methyltransferase 5 | Often (30–79%) | In 1 condition |
| TRMUtRNA mitochondrial 2-thiouridylase | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| TSPYL1TSPY like 1 | Often (30–79%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 5 conditions |
| UBA5ubiquitin like modifier activating enzyme 5 | Often (30–79%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Often (30–79%) | In 1 condition |
| VPS13Avacuolar protein sorting 13 homolog A | Often (30–79%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Often (30–79%) | In 2 conditions |
| VWA1von Willebrand factor A domain containing 1 | Often (30–79%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Often (30–79%) | In 1 condition |
| ACAT1acetyl-CoA acetyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Sometimes (5–29%) | In 1 condition |
| ACO2aconitase 2 | Sometimes (5–29%) | In 1 condition |
| ANXA11annexin A11 | Sometimes (5–29%) | In 1 condition |
| ATXN1ataxin 1 | Sometimes (5–29%) | In 1 condition |
| ATXN10ataxin 10 | Sometimes (5–29%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 2 conditions |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| DUOX2dual oxidase 2 | Sometimes (5–29%) | In 1 condition |
| DUOXA2dual oxidase maturation factor 2 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 2 conditions |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FUSFUS RNA binding protein | Sometimes (5–29%) | In 2 conditions |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 1 condition |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Sometimes (5–29%) | In 1 condition |
| GNASGNAS complex locus | Sometimes (5–29%) | In 3 conditions |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 2 conditions |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sometimes (5–29%) | In 2 conditions |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Sometimes (5–29%) | In 1 condition |
| IYDiodotyrosine deiodinase | Sometimes (5–29%) | In 1 condition |
| MCM3APminichromosome maintenance complex component 3 associated protein | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Sometimes (5–29%) | In 1 condition |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Sometimes (5–29%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Sometimes (5–29%) | In 1 condition |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Sometimes (5–29%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Sometimes (5–29%) | In 1 condition |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Sometimes (5–29%) | In 1 condition |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Sometimes (5–29%) | In 1 condition |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Sometimes (5–29%) | In 1 condition |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Sometimes (5–29%) | In 1 condition |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Sometimes (5–29%) | In 1 condition |
| MTPAPmitochondrial poly(A) polymerase | Sometimes (5–29%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Sometimes (5–29%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Sometimes (5–29%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Sometimes (5–29%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Sometimes (5–29%) | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Sometimes (5–29%) | In 1 condition |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Sometimes (5–29%) | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sometimes (5–29%) | In 1 condition |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Sometimes (5–29%) | In 1 condition |
| PMPCApeptidase, mitochondrial processing subunit alpha | Sometimes (5–29%) | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Sometimes (5–29%) | In 2 conditions |
| POLG2DNA polymerase gamma 2, accessory subunit | Sometimes (5–29%) | In 1 condition |
| POLR3BRNA polymerase III subunit B | Sometimes (5–29%) | In 1 condition |
| PPOXprotoporphyrinogen oxidase | Sometimes (5–29%) | In 1 condition |
| PRDM12PR/SET domain 12 | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sometimes (5–29%) | In 1 condition |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sometimes (5–29%) | In 2 conditions |
| RTEL1regulator of telomere elongation helicase 1 | Sometimes (5–29%) | In 1 condition |
| SEPTIN9septin 9 | Sometimes (5–29%) | In 1 condition |
| SETXsenataxin | Sometimes (5–29%) | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Sometimes (5–29%) | In 1 condition |
| SLC5A5solute carrier family 5 member 5 | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 1 condition |
| SQSTM1sequestosome 1 | Sometimes (5–29%) | In 2 conditions |
| STX16syntaxin 16 | Sometimes (5–29%) | In 1 condition |
| TAOK1TAO kinase 1 | Sometimes (5–29%) | In 1 condition |
| TARDBPTAR DNA binding protein | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TBK1TANK binding kinase 1 | Sometimes (5–29%) | In 2 conditions |
| TERCtelomerase RNA component | Sometimes (5–29%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Sometimes (5–29%) | In 1 condition |
| TGthyroglobulin | Sometimes (5–29%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Sometimes (5–29%) | In 1 condition |
| TK2thymidine kinase 2 | Sometimes (5–29%) | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Sometimes (5–29%) | In 1 condition |
| TPOthyroid peroxidase | Sometimes (5–29%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Sometimes (5–29%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Sometimes (5–29%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Sometimes (5–29%) | In 1 condition |
| VCPvalosin containing protein | Sometimes (5–29%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Sometimes (5–29%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Sometimes (5–29%) | In 1 condition |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Rarely (1–4%) | In 2 conditions |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Rarely (1–4%) | In 1 condition |
| PTF1Apancreas associated transcription factor 1a | Rarely (1–4%) | In 1 condition |
| ABCA1ATP binding cassette subfamily A member 1 | Not recorded | In 1 condition |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Not recorded | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Not recorded | In 1 condition |
| ATP7AATPase copper transporting alpha | Not recorded | In 1 condition |
| BAG3BAG cochaperone 3 | Not recorded | In 1 condition |
| BSNDbarttin CLCNK type accessory subunit beta | Not recorded | In 1 condition |
| CLCNKAchloride voltage-gated channel Ka | Not recorded | In 1 condition |
| CLCNKBchloride voltage-gated channel Kb | Not recorded | In 1 condition |
| CNTNAP1contactin associated protein 1 | Not recorded | In 1 condition |
| COASYCoenzyme A synthase | Not recorded | In 1 condition |
| COX6A1cytochrome c oxidase subunit 6A1 | Not recorded | In 1 condition |
| DCAF8DDB1 and CUL4 associated factor 8 | Not recorded | In 1 condition |
| DMDdystrophin | Not recorded | In 2 conditions |
| DNM2dynamin 2 | Not recorded | In 1 condition |
| DNMT1DNA methyltransferase 1 | Not recorded | In 1 condition |
| DOCK3dedicator of cytokinesis 3 | Not recorded | In 1 condition |
| EGR2early growth response 2 | Not recorded | In 1 condition |
| FDX2ferredoxin 2 | Not recorded | In 1 condition |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Not recorded | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Not recorded | In 1 condition |
| FLNCfilamin C | Not recorded | In 1 condition |
| GARS1glycyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| GJB1gap junction protein beta 1 | Not recorded | In 1 condition |
| GLDCglycine decarboxylase | Not recorded | In 1 condition |
| GNB4G protein subunit beta 4 | Not recorded | In 1 condition |
| HDAC4histone deacetylase 4 | Not recorded | In 1 condition |
| HK1hexokinase 1 | Not recorded | In 1 condition |
| HNRNPDLheterogeneous nuclear ribonucleoprotein D like | Not recorded | In 1 condition |
| HSPB8heat shock protein family B (small) member 8 | Not recorded | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Not recorded | In 2 conditions |
| INF2inverted formin 2 | Not recorded | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| KIAA0586KIAA0586 | Not recorded | In 1 condition |
| KIF1Akinesin family member 1A | Not recorded | In 2 conditions |
| KIF1Bkinesin family member 1B | Not recorded | In 1 condition |
| LITAFlipopolysaccharide induced TNF factor | Not recorded | In 1 condition |
| LMNAlamin A/C | Not recorded | In 1 condition |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Not recorded | In 1 condition |
| LYSTlysosomal trafficking regulator | Not recorded | In 1 condition |
| MED25mediator complex subunit 25 | Not recorded | In 1 condition |
| MEGF10multiple EGF like domains 10 | Not recorded | In 1 condition |
| MRE11MRE11 double strand break repair nuclease | Not recorded | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| NDRG1N-myc downstream regulated 1 | Not recorded | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Not recorded | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Not recorded | In 1 condition |
| NEFHneurofilament heavy chain | Not recorded | In 1 condition |
| NFASCneurofascin | Not recorded | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PGM3phosphoglucomutase 3 | Not recorded | In 1 condition |
| PHYHphytanoyl-CoA 2-hydroxylase | Not recorded | In 1 condition |
| PRXperiaxin | Not recorded | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Not recorded | In 1 condition |
| RAB7ARAB7A, member RAS oncogene family | Not recorded | In 1 condition |
| RETREG1reticulophagy regulator 1 | Not recorded | In 2 conditions |
| SBF2SET binding factor 2 | Not recorded | In 1 condition |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Not recorded | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Not recorded | In 1 condition |
| SLC25A19solute carrier family 25 member 19 | Not recorded | In 1 condition |
| SLC35A1solute carrier family 35 member A1 | Not recorded | In 1 condition |
| SLC5A7solute carrier family 5 member 7 | Not recorded | In 1 condition |
| SMN1survival of motor neuron 1, telomeric | Not recorded | In 1 condition |
| SMN2survival of motor neuron 2, centromeric | Not recorded | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Not recorded | In 1 condition |
| SOX10SRY-box transcription factor 10 | Not recorded | In 1 condition |
| STAC3SH3 and cysteine rich domain 3 | Not recorded | In 1 condition |
| SYT2synaptotagmin 2 | Not recorded | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Not recorded | In 1 condition |
| TMEM240transmembrane protein 240 | Not recorded | In 1 condition |
| TPI1triosephosphate isomerase 1 | Not recorded | In 1 condition |
| TRIM32tripartite motif containing 32 | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Not recorded | In 3 conditions |
| TTRtransthyretin | Not recorded | In 1 condition |
| WARS1tryptophanyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| WDR81WD repeat domain 81 | Not recorded | In 1 condition |
| WNK1WNK lysine deficient protein kinase 1 | Not recorded | In 1 condition |
| XPAXPA, DNA damage recognition and repair factor | Not recorded | In 1 condition |
| ZFHX3zinc finger homeobox 3 | 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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