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Trait
Enlarged liver
Clinical name: Hepatomegaly
Abnormally increased size of the liver.
Summary
- Body system
- Abnormality of the digestive system
Enlarged liverHP:0002240
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Read the genes linked to Enlarged liver, and the rest of your genome, with one test.
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Get my Genome Test637 genes linked to Enlarged liver
Changes in these genes cause rare conditions in which Enlarged liver 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 |
|---|---|---|
| ABCB11ATP binding cassette subfamily B member 11 | Always | In 3 conditions |
| ABCB4ATP binding cassette subfamily B member 4 | Always | In 1 condition |
| ABCD3ATP binding cassette subfamily D member 3 | Always | In 1 condition |
| ACADVLacyl-CoA dehydrogenase very long chain | Always | In 2 conditions |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Always | In 1 condition |
| AK2adenylate kinase 2 | Always | In 1 condition |
| ALDOAaldolase, fructose-bisphosphate A | Always | In 1 condition |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Always | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Always | In 2 conditions |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Always | In 2 conditions |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 2 conditions |
| AMACRalpha-methylacyl-CoA racemase | Always | In 1 condition |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| APOA1apolipoprotein A1 | Always | In 1 condition |
| ARG1arginase 1 | Always | In 1 condition |
| ARL13BARF like GTPase 13B | Always | In 1 condition |
| ARPC5actin related protein 2/3 complex subunit 5 | Always | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Always | In 1 condition |
| ATP7BATPase copper transporting beta | Always | In 2 conditions |
| ATP8B1ATPase phospholipid transporting 8B1 | Always | In 3 conditions |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Always | In 2 conditions |
| BOLA3bolA family member 3 | Always | In 2 conditions |
| CALRcalreticulin | Always | In 3 conditions |
| CASP10caspase 10 | Always | In 2 conditions |
| CD27CD27 molecule | Always | In 1 condition |
| CD81CD81 molecule | Always | In 1 condition |
| CDAN1codanin 1 | Always | In 1 condition |
| CIDECcell death inducing DFFA like effector c | Always | In 2 conditions |
| CLCN7Cl-/H+ antiporter 7 | Always | In 3 conditions |
| CLDN1claudin 1 | Always | In 2 conditions |
| COG7component of oligomeric golgi complex 7 | Always | In 2 conditions |
| COX14cytochrome c oxidase assembly factor COX14 | Always | In 1 condition |
| CPT1Acarnitine palmitoyltransferase 1A | Always | In 2 conditions |
| CPT2carnitine palmitoyltransferase 2 | Always | In 4 conditions |
| CYBBcytochrome b-245 beta chain | Always | In 2 conditions |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Always | In 1 condition |
| DCDC2doublecortin domain containing 2 | Always | In 2 conditions |
| DCLRE1CDNA cross-link repair 1C | Always | In 3 conditions |
Show 597 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| DHCR77-dehydrocholesterol reductase | Always | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Always | In 2 conditions |
| FLNAfilamin A | Always | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Always | In 1 condition |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Always | In 1 condition |
| GBA1glucosylceramidase beta 1 | Always | In 8 conditions |
| GLB1galactosidase beta 1 | Always | In 3 conditions |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Always | In 2 conditions |
| GON4Lgon-4 like | Always | In 1 condition |
| GPD1glycerol-3-phosphate dehydrogenase 1 | Always | In 1 condition |
| GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Always | In 1 condition |
| HBBhemoglobin subunit beta | Always | In 5 conditions |
| HCKHCK proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| HJVhemojuvelin BMP co-receptor | Always | In 1 condition |
| HMOX1heme oxygenase 1 | Always | In 2 conditions |
| HNF4Ahepatocyte nuclear factor 4 alpha | Always | In 2 conditions |
| HYOU1hypoxia up-regulated 1 | Always | In 1 condition |
| IDSiduronate 2-sulfatase | Always | In 1 condition |
| IFT56intraflagellar transport 56 | Always | In 1 condition |
| IL18BPinterleukin 18 binding protein | Always | In 1 condition |
| IRF8interferon regulatory factor 8 | Always | In 1 condition |
| ITKIL2 inducible T cell kinase | Always | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| JAK2Janus kinase 2 | Always | In 4 conditions |
| JAM3junctional adhesion molecule 3 | Always | In 1 condition |
| KLF1KLF transcription factor 1 | Always | In 3 conditions |
| LDB3LIM domain binding 3 | Always | In 1 condition |
| LIPAlipase A, lysosomal acid type | Always | In 4 conditions |
| LMNAlamin A/C | Always | In 5 conditions |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Always | In 1 condition |
| MAN2B2mannosidase alpha class 2B member 2 | Always | In 1 condition |
| MOGSmannosyl-oligosaccharide glucosidase | Always | In 2 conditions |
| MPImannose phosphate isomerase | Always | In 2 conditions |
| MPLMPL proto-oncogene, thrombopoietin receptor | Always | In 2 conditions |
| MRPS28mitochondrial ribosomal protein S28 | Always | In 1 condition |
| MYL2myosin light chain 2 | Always | In 1 condition |
| NFKBIANFKB inhibitor alpha | Always | In 1 condition |
| NHEJ1non-homologous end joining factor 1 | Always | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Always | In 1 condition |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Always | In 2 conditions |
| PDCD1programmed cell death 1 | Always | In 1 condition |
| PEPDpeptidase D | Always | In 2 conditions |
| PEX1peroxisomal biogenesis factor 1 | Always | In 4 conditions |
| PEX14peroxisomal biogenesis factor 14 | Always | In 3 conditions |
| PEX6peroxisomal biogenesis factor 6 | Always | In 4 conditions |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Always | In 2 conditions |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| PKD2polycystin 2, transient receptor potential cation channel | Always | In 1 condition |
| PKLRpyruvate kinase L/R | Always | In 1 condition |
| PLEKHM1pleckstrin homology and RUN domain containing M1 | Always | In 1 condition |
| POLD3DNA polymerase delta 3, accessory subunit | Always | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Always | In 1 condition |
| PRF1perforin 1 | Always | In 2 conditions |
| PSAPprosaposin | Always | In 3 conditions |
| PSMG2proteasome assembly chaperone 2 | Always | In 1 condition |
| PYGLglycogen phosphorylase L | Always | In 2 conditions |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| RC3H1ring finger and CCCH-type domains 1 | Always | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Always | In 1 condition |
| RFT1RFT1 glycolipid translocator homolog | Always | In 2 conditions |
| RINT1RAD50 interactor 1 | Always | In 1 condition |
| SCO1synthesis of cytochrome C oxidase 1 | Always | In 2 conditions |
| SCYL1SCY1 like pseudokinase 1 | Always | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Always | In 1 condition |
| SH2B3SH2B adaptor protein 3 | Always | In 1 condition |
| SKIC2SKI2 subunit of superkiller complex | Always | In 2 conditions |
| SLC25A20solute carrier family 25 member 20 | Always | In 2 conditions |
| SLC37A4solute carrier family 37 member 4 | Always | In 4 conditions |
| SMPD1sphingomyelin phosphodiesterase 1 | Always | In 3 conditions |
| SPIN4spindlin family member 4 | Always | In 1 condition |
| STX11syntaxin 11 | Always | In 2 conditions |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Always | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Always | In 2 conditions |
| TCN2transcobalamin 2 | Always | In 1 condition |
| TMEM165transmembrane protein 165 | Always | In 1 condition |
| TRACT cell receptor alpha constant | Always | In 1 condition |
| TRAF3TNF receptor associated factor 3 | Always | In 1 condition |
| TRMUtRNA mitochondrial 2-thiouridylase | Always | In 2 conditions |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 1 condition |
| UQCRBubiquinol-cytochrome c reductase binding protein | Always | In 1 condition |
| UROSuroporphyrinogen III synthase | Always | In 1 condition |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Always | In 2 conditions |
| VPS45vacuolar protein sorting 45 homolog | Always | In 1 condition |
| WDR19WD repeat domain 19 | Always | In 1 condition |
| ZFYVE19zinc finger FYVE-type containing 19 | Always | In 1 condition |
| ADAadenosine deaminase | Very often (80–99%) | In 2 conditions |
| AKT2AKT serine/threonine kinase 2 | Very often (80–99%) | In 1 condition |
| CASRcalcium sensing receptor | Very often (80–99%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Very often (80–99%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 1 condition |
| CYBAcytochrome b-245 alpha chain | Very often (80–99%) | In 2 conditions |
| CYBC1cytochrome b-245 chaperone 1 | Very often (80–99%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Very often (80–99%) | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Very often (80–99%) | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Very often (80–99%) | In 2 conditions |
| GAAalpha glucosidase | Very often (80–99%) | In 2 conditions |
| GPC3glypican 3 | Very often (80–99%) | In 2 conditions |
| GPC4glypican 4 | Very often (80–99%) | In 1 condition |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Very often (80–99%) | In 1 condition |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Very often (80–99%) | In 2 conditions |
| HYMAIhydatidiform mole associated and imprinted | Very often (80–99%) | In 1 condition |
| IDUAalpha-L-iduronidase | Very often (80–99%) | In 5 conditions |
| IL2RGinterleukin 2 receptor subunit gamma | Very often (80–99%) | In 3 conditions |
| IL7Rinterleukin 7 receptor | Very often (80–99%) | In 2 conditions |
| INPP5Einositol polyphosphate-5-phosphatase E | Very often (80–99%) | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Very often (80–99%) | In 1 condition |
| LBRlamin B receptor | Very often (80–99%) | In 3 conditions |
| LIPElipase E, hormone sensitive type | Very often (80–99%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 1 condition |
| MARS1methionyl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| METMET proto-oncogene, receptor tyrosine kinase | Very often (80–99%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 2 conditions |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Very often (80–99%) | In 2 conditions |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Very often (80–99%) | In 2 conditions |
| MVKmevalonate kinase | Very often (80–99%) | In 1 condition |
| MYO5Bmyosin VB | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 2 conditions |
| NCF2neutrophil cytosolic factor 2 | Very often (80–99%) | In 2 conditions |
| NCF4neutrophil cytosolic factor 4 | Very often (80–99%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Very often (80–99%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Very often (80–99%) | In 1 condition |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Very often (80–99%) | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Very often (80–99%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Very often (80–99%) | In 2 conditions |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Very often (80–99%) | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Very often (80–99%) | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Very often (80–99%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Very often (80–99%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Very often (80–99%) | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Very often (80–99%) | In 1 condition |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Very often (80–99%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Very often (80–99%) | In 2 conditions |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Very often (80–99%) | In 1 condition |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Very often (80–99%) | In 1 condition |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Very often (80–99%) | In 2 conditions |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Very often (80–99%) | In 1 condition |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Very often (80–99%) | In 2 conditions |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Very often (80–99%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Very often (80–99%) | In 1 condition |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Very often (80–99%) | In 1 condition |
| NEK8NIMA related kinase 8 | Very often (80–99%) | In 2 conditions |
| NLRP3NLR family pyrin domain containing 3 | Very often (80–99%) | In 2 conditions |
| NPHP3nephrocystin 3 | Very often (80–99%) | In 2 conditions |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Very often (80–99%) | In 1 condition |
| NUDCD3NudC domain containing 3 | Very often (80–99%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 3 conditions |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 2 conditions |
| PEX12peroxisomal biogenesis factor 12 | Very often (80–99%) | In 4 conditions |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 2 conditions |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 3 conditions |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 2 conditions |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 3 conditions |
| PEX26peroxisomal biogenesis factor 26 | Very often (80–99%) | In 3 conditions |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 3 conditions |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 3 conditions |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Very often (80–99%) | In 2 conditions |
| PHKBphosphorylase kinase regulatory subunit beta | Very often (80–99%) | In 2 conditions |
| PLAGL1PLAG1 like zinc finger 1 | Very often (80–99%) | In 1 condition |
| PPARGperoxisome proliferator activated receptor gamma | Very often (80–99%) | In 1 condition |
| PRKCSHPRKCSH beta subunit of glucosidase II | Very often (80–99%) | In 1 condition |
| PSMB10proteasome 20S subunit beta 10 | Very often (80–99%) | In 1 condition |
| RAB27ARAB27A, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| RAG1recombination activating 1 | Very often (80–99%) | In 3 conditions |
| RAG2recombination activating 2 | Very often (80–99%) | In 3 conditions |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Very often (80–99%) | In 2 conditions |
| RPGRIP1LRPGRIP1 like | Very often (80–99%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Very often (80–99%) | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Very often (80–99%) | In 2 conditions |
| SEC63SEC63 protein translocation regulator | Very often (80–99%) | In 2 conditions |
| SLC22A5solute carrier family 22 member 5 | Very often (80–99%) | In 2 conditions |
| SLC7A7solute carrier family 7 member 7 | Very often (80–99%) | In 2 conditions |
| SNX10sorting nexin 10 | Very often (80–99%) | In 2 conditions |
| SUMF1sulfatase modifying factor 1 | Very often (80–99%) | In 2 conditions |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Very often (80–99%) | In 1 condition |
| TLR8toll like receptor 8 | Very often (80–99%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Very often (80–99%) | In 1 condition |
| TMEM67transmembrane protein 67 | Very often (80–99%) | In 3 conditions |
| TNFSF11TNF superfamily member 11 | Very often (80–99%) | In 1 condition |
| TRIM37tripartite motif containing 37 | Very often (80–99%) | In 2 conditions |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Very often (80–99%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Very often (80–99%) | In 1 condition |
| VPS4Avacuolar protein sorting 4 homolog A | Very often (80–99%) | In 1 condition |
| ZNFX1zinc finger NFX1-type containing 1 | Very often (80–99%) | In 1 condition |
| ABHD5abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | Often (30–79%) | In 2 conditions |
| ACADMacyl-CoA dehydrogenase medium chain | Often (30–79%) | In 2 conditions |
| ACOX1acyl-CoA oxidase 1 | Often (30–79%) | In 2 conditions |
| ADA2adenosine deaminase 2 | Often (30–79%) | In 1 condition |
| ADRA2Aadrenoceptor alpha 2A | Often (30–79%) | In 1 condition |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Often (30–79%) | In 1 condition |
| AKR1D1aldo-keto reductase family 1 member D1 | Often (30–79%) | In 2 conditions |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| ANK1ankyrin 1 | Often (30–79%) | In 1 condition |
| APOC2apolipoprotein C2 | Often (30–79%) | In 1 condition |
| APOEapolipoprotein E | Often (30–79%) | In 1 condition |
| ARSBarylsulfatase B | Often (30–79%) | In 1 condition |
| ASLargininosuccinate lyase | Often (30–79%) | In 2 conditions |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Often (30–79%) | In 1 condition |
| BMP6bone morphogenetic protein 6 | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| CAVIN1caveolae associated protein 1 | Often (30–79%) | In 1 condition |
| CBLCbl proto-oncogene | Often (30–79%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Often (30–79%) | In 1 condition |
| CD28CD28 molecule | Often (30–79%) | In 2 conditions |
| CD4CD4 molecule | Often (30–79%) | In 1 condition |
| COA8cytochrome c oxidase assembly factor 8 | Often (30–79%) | In 1 condition |
| COG6component of oligomeric golgi complex 6 | Often (30–79%) | In 1 condition |
| COX4I2cytochrome c oxidase subunit 4I2 | Often (30–79%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Often (30–79%) | In 4 conditions |
| DEF6DEF6 guanine nucleotide exchange factor | Often (30–79%) | In 1 condition |
| DHRSXdehydrogenase/reductase X-linked | Often (30–79%) | In 1 condition |
| DLDdihydrolipoamide dehydrogenase | Often (30–79%) | In 2 conditions |
| DOCK11dedicator of cytokinesis 11 | Often (30–79%) | In 1 condition |
| EPB42erythrocyte membrane protein band 4.2 | Often (30–79%) | In 1 condition |
| EWSR1EWS RNA binding protein 1 | Often (30–79%) | In 1 condition |
| F5coagulation factor V | Often (30–79%) | In 1 condition |
| FAHfumarylacetoacetate hydrolase | Often (30–79%) | In 2 conditions |
| FASFas cell surface death receptor | Often (30–79%) | In 2 conditions |
| FASLGFas ligand | Often (30–79%) | In 2 conditions |
| FBXL4F-box and leucine rich repeat protein 4 | Often (30–79%) | In 1 condition |
| FOCADfocadhesin | Often (30–79%) | In 1 condition |
| GALEUDP-galactose-4-epimerase | Often (30–79%) | In 2 conditions |
| GALTgalactose-1-phosphate uridylyltransferase | Often (30–79%) | In 2 conditions |
| GATA2GATA binding protein 2 | Often (30–79%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Often (30–79%) | In 2 conditions |
| GNSglucosamine (N-acetyl)-6-sulfatase | Often (30–79%) | In 1 condition |
| GPIglucose-6-phosphate isomerase | Often (30–79%) | In 1 condition |
| GPR35G protein-coupled receptor 35 | Often (30–79%) | In 1 condition |
| GUSBglucuronidase beta | Often (30–79%) | In 1 condition |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Often (30–79%) | In 2 conditions |
| HBA1hemoglobin subunit alpha 1 | Often (30–79%) | In 2 conditions |
| HBA2hemoglobin subunit alpha 2 | Often (30–79%) | In 2 conditions |
| HBG1hemoglobin subunit gamma 1 | Often (30–79%) | In 1 condition |
| HBG2hemoglobin subunit gamma 2 | Often (30–79%) | In 2 conditions |
| HFEhomeostatic iron regulator | Often (30–79%) | In 2 conditions |
| HMBShydroxymethylbilane synthase | Often (30–79%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Often (30–79%) | In 2 conditions |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Often (30–79%) | In 1 condition |
| IL12Ainterleukin 12A | Often (30–79%) | In 1 condition |
| IL12RB1interleukin 12 receptor subunit beta 1 | Often (30–79%) | In 1 condition |
| INSRinsulin receptor | Often (30–79%) | In 2 conditions |
| IRF1interferon regulatory factor 1 | Often (30–79%) | In 1 condition |
| IRF4interferon regulatory factor 4 | Often (30–79%) | In 2 conditions |
| IRF5interferon regulatory factor 5 | Often (30–79%) | In 1 condition |
| KIF12kinesin family member 12 | Often (30–79%) | In 1 condition |
| KIF20Akinesin family member 20A | Often (30–79%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| LAMA5laminin subunit alpha 5 | Often (30–79%) | In 1 condition |
| LPIN2lipin 2 | Often (30–79%) | In 1 condition |
| LYRM4LYR motif containing 4 | Often (30–79%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Often (30–79%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Often (30–79%) | In 1 condition |
| MADDMAP kinase activating death domain | Often (30–79%) | In 2 conditions |
| MAGT1magnesium transporter 1 | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MFN2mitofusin 2 | Often (30–79%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Often (30–79%) | In 1 condition |
| MMEL1membrane metalloendopeptidase like 1 | Often (30–79%) | In 1 condition |
| MMUTmethylmalonyl-CoA mutase | Often (30–79%) | In 3 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Often (30–79%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Often (30–79%) | In 1 condition |
| MRPL3mitochondrial ribosomal protein L3 | Often (30–79%) | In 1 condition |
| MRPS7mitochondrial ribosomal protein S7 | Often (30–79%) | In 1 condition |
| MST1macrophage stimulating 1 | Often (30–79%) | In 1 condition |
| MTX2metaxin 2 | Often (30–79%) | In 1 condition |
| NAE1NEDD8 activating enzyme E1 subunit 1 | Often (30–79%) | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Often (30–79%) | In 2 conditions |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Often (30–79%) | In 1 condition |
| NGLY1N-glycanase 1 | Often (30–79%) | In 2 conditions |
| NLRP1NLR family pyrin domain containing 1 | Often (30–79%) | In 1 condition |
| NPC1NPC intracellular cholesterol transporter 1 | Often (30–79%) | In 1 condition |
| NPC2NPC intracellular cholesterol transporter 2 | Often (30–79%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 3 conditions |
| PCCApropionyl-CoA carboxylase subunit alpha | Often (30–79%) | In 2 conditions |
| PCCBpropionyl-CoA carboxylase subunit beta | Often (30–79%) | In 2 conditions |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Often (30–79%) | In 1 condition |
| PIGMphosphatidylinositol glycan anchor biosynthesis class M | Often (30–79%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Often (30–79%) | In 1 condition |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Often (30–79%) | In 1 condition |
| PLAAT3phospholipase A and acyltransferase 3 | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Often (30–79%) | In 3 conditions |
| POU2AF1POU class 2 homeobox associating factor 1 | Often (30–79%) | In 1 condition |
| PRDX1peroxiredoxin 1 | Often (30–79%) | In 1 condition |
| PRKCDprotein kinase C delta | Often (30–79%) | In 1 condition |
| PSKH1protein serine kinase H1 | Often (30–79%) | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Often (30–79%) | In 2 conditions |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| RASA2RAS p21 protein activator 2 | Often (30–79%) | In 1 condition |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Often (30–79%) | In 1 condition |
| RHBDF2rhomboid 5 homolog 2 | Often (30–79%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Often (30–79%) | In 1 condition |
| RRASRAS related | Often (30–79%) | In 1 condition |
| RRAS2RAS related 2 | Often (30–79%) | In 1 condition |
| SAA1serum amyloid A1 | Often (30–79%) | In 1 condition |
| SASH3SAM and SH3 domain containing 3 | Often (30–79%) | In 1 condition |
| SC5Dsterol-C5-desaturase | Often (30–79%) | In 1 condition |
| SEMA4Dsemaphorin 4D | Often (30–79%) | In 1 condition |
| SH2D1ASH2 domain containing 1A | Often (30–79%) | In 1 condition |
| SHARPINSHANK associated RH domain interactor | Often (30–79%) | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Often (30–79%) | In 2 conditions |
| SLC19A1solute carrier family 19 member 1 | Often (30–79%) | In 1 condition |
| SLC25A13solute carrier family 25 member 13 | Often (30–79%) | In 2 conditions |
| SLC25A15solute carrier family 25 member 15 | Often (30–79%) | In 2 conditions |
| SLC29A3solute carrier family 29 member 3 | Often (30–79%) | In 1 condition |
| SLC2A2solute carrier family 2 member 2 | Often (30–79%) | In 2 conditions |
| SLC30A10solute carrier family 30 member 10 | Often (30–79%) | In 2 conditions |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Often (30–79%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Often (30–79%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Often (30–79%) | In 1 condition |
| SP110SP110 nuclear body protein | Often (30–79%) | In 1 condition |
| SPIBSpi-B transcription factor | Often (30–79%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Often (30–79%) | In 1 condition |
| SPTA1spectrin alpha, erythrocytic 1 | Often (30–79%) | In 1 condition |
| SPTBspectrin beta, erythrocytic | Often (30–79%) | In 1 condition |
| STAT1signal transducer and activator of transcription 1 | Often (30–79%) | In 1 condition |
| STEAP3STEAP3 metalloreductase | Often (30–79%) | In 1 condition |
| STIM1stromal interaction molecule 1 | Often (30–79%) | In 1 condition |
| STXBP2syntaxin binding protein 2 | Often (30–79%) | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Often (30–79%) | In 1 condition |
| TCF4transcription factor 4 | Often (30–79%) | In 1 condition |
| TET2tet methylcytosine dioxygenase 2 | Often (30–79%) | In 3 conditions |
| TFE3transcription factor binding to IGHM enhancer 3 | Often (30–79%) | In 1 condition |
| TMEM70transmembrane protein 70 | Often (30–79%) | In 1 condition |
| TNFRSF11ATNF receptor superfamily member 11a | Often (30–79%) | In 1 condition |
| TNFRSF1BTNF receptor superfamily member 1B | Often (30–79%) | In 2 conditions |
| TNFSF15TNF superfamily member 15 | Often (30–79%) | In 1 condition |
| TNPO3transportin 3 | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 2 conditions |
| TREX1three prime repair exonuclease 1 | Often (30–79%) | In 1 condition |
| UNC13Dunc-13 homolog D | Often (30–79%) | In 1 condition |
| VMA12vacuolar ATPase assembly factor VMA12 | Often (30–79%) | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Often (30–79%) | In 2 conditions |
| WDR83OSWD repeat domain 83 opposite strand | Often (30–79%) | In 1 condition |
| WT1WT1 transcription factor | Often (30–79%) | In 1 condition |
| XIAPX-linked inhibitor of apoptosis | Often (30–79%) | In 2 conditions |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Often (30–79%) | In 1 condition |
| XYLT1xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| YARS1tyrosyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Often (30–79%) | In 1 condition |
| ABCC2ATP binding cassette subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| ABCC8ATP binding cassette subfamily C member 8 | Sometimes (5–29%) | 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 |
| ADAMTSL2ADAMTS like 2 | Sometimes (5–29%) | In 2 conditions |
| ADARadenosine deaminase RNA specific | Sometimes (5–29%) | In 1 condition |
| AGAaspartylglucosaminidase | Sometimes (5–29%) | In 2 conditions |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| ALDOBaldolase, fructose-bisphosphate B | Sometimes (5–29%) | In 2 conditions |
| ALMS1ALMS1 centrosome and basal body associated protein | Sometimes (5–29%) | In 2 conditions |
| ASXL1ASXL transcriptional regulator 1 | Sometimes (5–29%) | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Sometimes (5–29%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Sometimes (5–29%) | In 1 condition |
| ATP5F1EATP synthase F1 subunit epsilon | Sometimes (5–29%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Sometimes (5–29%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Sometimes (5–29%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Sometimes (5–29%) | In 1 condition |
| B4GALT1beta-1,4-galactosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| BAATbile acid-CoA:amino acid N-acyltransferase | Sometimes (5–29%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Sometimes (5–29%) | In 3 conditions |
| BTNL2butyrophilin like 2 | Sometimes (5–29%) | In 2 conditions |
| C1QBPcomplement C1q binding protein | Sometimes (5–29%) | In 1 condition |
| C2orf69chromosome 2 open reading frame 69 | Sometimes (5–29%) | In 1 condition |
| CA2carbonic anhydrase 2 | Sometimes (5–29%) | In 1 condition |
| CBScystathionine beta-synthase | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Sometimes (5–29%) | In 1 condition |
| COG5component of oligomeric golgi complex 5 | Sometimes (5–29%) | In 1 condition |
| CTC1CST telomere replication complex component 1 | Sometimes (5–29%) | In 1 condition |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Sometimes (5–29%) | In 1 condition |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Sometimes (5–29%) | In 1 condition |
| DGUOKdeoxyguanosine kinase | Sometimes (5–29%) | In 2 conditions |
| DKC1dyskerin pseudouridine synthase 1 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DNASE1L3deoxyribonuclease 1L3 | Sometimes (5–29%) | In 1 condition |
| DOCK2dedicator of cytokinesis 2 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 2 conditions |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sometimes (5–29%) | In 1 condition |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| EFL1elongation factor like GTPase 1 | Sometimes (5–29%) | In 2 conditions |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Sometimes (5–29%) | In 2 conditions |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 4 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 4 conditions |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FAM111BFAM111 trypsin like peptidase B | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 2 conditions |
| FBP1fructose-bisphosphatase 1 | Sometimes (5–29%) | In 2 conditions |
| FHfumarate hydratase | Sometimes (5–29%) | In 1 condition |
| FLNCfilamin C | Sometimes (5–29%) | In 1 condition |
| GALK1galactokinase 1 | Sometimes (5–29%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Sometimes (5–29%) | In 2 conditions |
| GIMAP5GTPase, IMAP family member 5 | Sometimes (5–29%) | In 1 condition |
| GUK1guanylate kinase 1 | Sometimes (5–29%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Sometimes (5–29%) | In 1 condition |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 3 conditions |
| HPGD15-hydroxyprostaglandin dehydrogenase | Sometimes (5–29%) | In 1 condition |
| IFT122intraflagellar transport 122 | Sometimes (5–29%) | In 1 condition |
| IFT140intraflagellar transport 140 | Sometimes (5–29%) | In 1 condition |
| IL6interleukin 6 | Sometimes (5–29%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Sometimes (5–29%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sometimes (5–29%) | In 2 conditions |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sometimes (5–29%) | In 1 condition |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Sometimes (5–29%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| KPTNkaptin, actin binding protein | Sometimes (5–29%) | In 1 condition |
| LACC1laccase domain multifunctional purine nucleosidase 1 | Sometimes (5–29%) | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Sometimes (5–29%) | In 1 condition |
| LCATlecithin-cholesterol acyltransferase | Sometimes (5–29%) | In 1 condition |
| LIG4DNA ligase 4 | Sometimes (5–29%) | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Sometimes (5–29%) | In 1 condition |
| MCTS1MCTS1 re-initiation and release factor | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MICU1mitochondrial calcium uptake 1 | Sometimes (5–29%) | In 1 condition |
| MIFmacrophage migration inhibitory factor | Sometimes (5–29%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sometimes (5–29%) | In 2 conditions |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Sometimes (5–29%) | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | 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-TEmitochondrially encoded tRNA-Glu (GAA/G) | 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 |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| MYD88MYD88 innate immune signal transduction adaptor | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 1 condition |
| NEU1neuraminidase 1 | Sometimes (5–29%) | In 3 conditions |
| NHP2NHP2 ribonucleoprotein | Sometimes (5–29%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Sometimes (5–29%) | In 1 condition |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| NPM1nucleophosmin 1 | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Sometimes (5–29%) | In 1 condition |
| PGM1phosphoglucomutase 1 | Sometimes (5–29%) | In 1 condition |
| PIEZO1piezo type mechanosensitive ion channel component 1 (Er blood group) | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sometimes (5–29%) | In 1 condition |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Sometimes (5–29%) | In 2 conditions |
| POLD1DNA polymerase delta 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Sometimes (5–29%) | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Sometimes (5–29%) | In 1 condition |
| PUS7pseudouridine synthase 7 | Sometimes (5–29%) | In 1 condition |
| RFXANKregulatory factor X associated ankyrin containing protein | Sometimes (5–29%) | In 1 condition |
| RFXAPregulatory factor X associated protein | Sometimes (5–29%) | In 1 condition |
| RIPK1receptor interacting serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| RMND1required for meiotic nuclear division 1 homolog | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RORCRAR related orphan receptor C | Sometimes (5–29%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 1 condition |
| SF3B1splicing factor 3b subunit 1 | Sometimes (5–29%) | In 1 condition |
| SGSHN-sulfoglucosamine sulfohydrolase | Sometimes (5–29%) | In 1 condition |
| SLC25A1solute carrier family 25 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC25A19solute carrier family 25 member 19 | Sometimes (5–29%) | In 2 conditions |
| SLC34A2solute carrier family 34 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Sometimes (5–29%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC40A1solute carrier family 40 member 1 | Sometimes (5–29%) | In 1 condition |
| SLCO2A1solute carrier organic anion transporter family member 2A1 | Sometimes (5–29%) | In 1 condition |
| SNX14sorting nexin 14 | Sometimes (5–29%) | In 1 condition |
| SOCS1suppressor of cytokine signaling 1 | Sometimes (5–29%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Sometimes (5–29%) | In 1 condition |
| SRSF2serine and arginine rich splicing factor 2 | Sometimes (5–29%) | In 1 condition |
| TERCtelomerase RNA component | Sometimes (5–29%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Sometimes (5–29%) | In 1 condition |
| TFR2transferrin receptor 2 | Sometimes (5–29%) | In 1 condition |
| TGFB1transforming growth factor beta 1 | Sometimes (5–29%) | In 2 conditions |
| TINF2TERF1 interacting nuclear factor 2 | Sometimes (5–29%) | In 1 condition |
| TKFCtriokinase and FMN cyclase | Sometimes (5–29%) | In 1 condition |
| TKTtransketolase | Sometimes (5–29%) | In 1 condition |
| TNFRSF1ATNF receptor superfamily member 1A | Sometimes (5–29%) | In 1 condition |
| TNNI3troponin I3, cardiac type | Sometimes (5–29%) | In 1 condition |
| TNNT2troponin T2, cardiac type | Sometimes (5–29%) | In 1 condition |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| TYMSthymidylate synthetase | Sometimes (5–29%) | In 1 condition |
| UCP2uncoupling protein 2 | Sometimes (5–29%) | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| USP18ubiquitin specific peptidase 18 | Sometimes (5–29%) | In 1 condition |
| VPS13Avacuolar protein sorting 13 homolog A | Sometimes (5–29%) | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Sometimes (5–29%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| CFTRCF transmembrane conductance regulator | Rarely (1–4%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Rarely (1–4%) | In 2 conditions |
| FCGR2AFc gamma receptor IIa | Rarely (1–4%) | In 1 condition |
| GALMgalactose mutarotase | Rarely (1–4%) | In 1 condition |
| HNF1AHNF1 homeobox A | Rarely (1–4%) | In 1 condition |
| NAGSN-acetylglutamate synthase | Rarely (1–4%) | In 1 condition |
| PTENphosphatase and tensin homolog | Rarely (1–4%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Rarely (1–4%) | In 2 conditions |
| ABCA1ATP binding cassette subfamily A member 1 | Not recorded | In 1 condition |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Not recorded | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Not recorded | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Not recorded | In 1 condition |
| ASS1argininosuccinate synthase 1 | Not recorded | In 1 condition |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Not recorded | In 1 condition |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| BTDbiotinidase | Not recorded | In 1 condition |
| CAV1caveolin 1 | Not recorded | In 1 condition |
| CD19CD19 molecule | Not recorded | In 1 condition |
| CD40LGCD40 ligand | Not recorded | In 1 condition |
| CD55CD55 molecule (Cromer blood group) | Not recorded | In 1 condition |
| CD96CD96 molecule | Not recorded | In 1 condition |
| CDIN1CDAN1 interacting nuclease 1 | Not recorded | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Not recorded | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Not recorded | In 1 condition |
| COX5Acytochrome c oxidase subunit 5A | Not recorded | In 1 condition |
| COX6B1cytochrome c oxidase subunit 6B1 | Not recorded | In 1 condition |
| CPOXcoproporphyrinogen oxidase | Not recorded | In 2 conditions |
| CR2complement C3d receptor 2 | Not recorded | In 1 condition |
| CTNScystinosin, lysosomal cystine transporter | Not recorded | In 1 condition |
| DDRGK1DDRGK domain containing 1 | Not recorded | In 1 condition |
| DHFRdihydrofolate reductase | Not recorded | In 1 condition |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Not recorded | In 1 condition |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Not recorded | In 1 condition |
| ETFAelectron transfer flavoprotein subunit alpha | Not recorded | In 1 condition |
| ETFBelectron transfer flavoprotein subunit beta | Not recorded | In 1 condition |
| ETFDHelectron transfer flavoprotein dehydrogenase | Not recorded | In 1 condition |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Not recorded | In 1 condition |
| FDX2ferredoxin 2 | Not recorded | In 1 condition |
| FERMT3FERM domain containing kindlin 3 | Not recorded | In 1 condition |
| FGAfibrinogen alpha chain | Not recorded | In 1 condition |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Not recorded | In 1 condition |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Not recorded | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Not recorded | In 1 condition |
| GLIS3GLIS family zinc finger 3 | Not recorded | In 1 condition |
| GLRX5glutaredoxin 5 | Not recorded | In 1 condition |
| GNMTglycine N-methyltransferase | Not recorded | In 1 condition |
| GUCY2Dguanylate cyclase 2D, retinal | Not recorded | In 1 condition |
| HAMPhepcidin antimicrobial peptide | Not recorded | In 1 condition |
| ICOSinducible T cell costimulator | Not recorded | In 2 conditions |
| IFT172intraflagellar transport 172 | Not recorded | In 1 condition |
| IGF2insulin like growth factor 2 | Not recorded | In 1 condition |
| IL1RNinterleukin 1 receptor antagonist | Not recorded | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Not recorded | In 1 condition |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Not recorded | In 1 condition |
| LARS1leucyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MCM4minichromosome maintenance complex component 4 | Not recorded | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Not recorded | In 1 condition |
| MMAAmetabolism of cobalamin associated A | Not recorded | In 1 condition |
| MMABmetabolism of cobalamin associated B | Not recorded | In 1 condition |
| MPC1mitochondrial pyruvate carrier 1 | Not recorded | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Not recorded | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Not recorded | In 1 condition |
| MYBPC3myosin binding protein C3 | Not recorded | In 1 condition |
| NAGLUN-acetyl-alpha-glucosaminidase | Not recorded | In 1 condition |
| NOTCH3notch receptor 3 | Not recorded | In 1 condition |
| OCLNoccludin | Not recorded | In 1 condition |
| PCpyruvate carboxylase | Not recorded | In 1 condition |
| PCK1phosphoenolpyruvate carboxykinase 1 | Not recorded | In 1 condition |
| PDGFRAplatelet derived growth factor receptor alpha | Not recorded | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Not recorded | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Not recorded | In 1 condition |
| PSMB4proteasome 20S subunit beta 4 | Not recorded | In 1 condition |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Not recorded | In 1 condition |
| RHAGRh associated glycoprotein | Not recorded | In 1 condition |
| RHDRh blood group D antigen | Not recorded | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Not recorded | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Not recorded | In 1 condition |
| SLC17A5solute carrier family 17 member 5 | Not recorded | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Not recorded | In 1 condition |
| SLC39A4solute carrier family 39 member 4 | Not recorded | In 1 condition |
| SRP54signal recognition particle 54 | Not recorded | In 1 condition |
| SURF1SURF1 cytochrome c oxidase assembly factor | Not recorded | In 1 condition |
| TACO1translational activator of cytochrome c oxidase I | Not recorded | In 1 condition |
| TALDO1transaldolase 1 | Not recorded | In 1 condition |
| TNFRSF13BTNF receptor superfamily member 13B | Not recorded | In 1 condition |
| TNFRSF13CTNF receptor superfamily member 13C | Not recorded | In 1 condition |
| TSFMTs translation elongation factor, mitochondrial | Not recorded | In 1 condition |
| TUFMTu translation elongation factor, mitochondrial | Not recorded | In 1 condition |
| VMA22vacuolar ATPase assembly factor VMA22 | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | Not recorded | In 1 condition |
| ZAP70zeta chain of T cell receptor associated protein kinase 70 | 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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