Trait
Club feet
Clinical name: Talipes equinovarus
Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Summary
- Also called
- Club foot, Clubfeet, Clubfoot, Clubbing of feet, Equinovarus, Foot, talipes equinovarus, Pes equinovarus, Pes equinus
- Body system
- Abnormality of limbs
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Club feet 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 |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Always | In 2 conditions |
| ALPK3alpha kinase 3 | Always | In 1 condition |
| AMMECR1AMMECR nuclear protein 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| B9D1B9 domain containing 1 | Always | In 1 condition |
| BICD2BICD cargo adaptor 2 | Always | In 2 conditions |
| BLTP1bridge-like lipid transfer protein family member 1 | Always | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Always | In 1 condition |
| CEP55centrosomal protein 55 | Always | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Always | In 2 conditions |
| COPZ1coat protein complex I subunit zeta 1 | Always | In 1 condition |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Always | In 1 condition |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Always | In 1 condition |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| FAT4FAT atypical cadherin 4 | Always | In 2 conditions |
| FBXO7F-box protein 7 | Always | In 2 conditions |
| GTPBP2GTP binding protein 2 | Always | In 1 condition |
| HOXA13homeobox A13 | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| ITGA8integrin subunit alpha 8 | Always | In 1 condition |
| KYkyphoscoliosis peptidase | Always | In 2 conditions |
| LAMA5laminin subunit alpha 5 | Always | In 1 condition |
| LDB3LIM domain binding 3 | Always | In 1 condition |
| MFN2mitofusin 2 | Always | In 2 conditions |
| MYH3myosin heavy chain 3 | Always | In 5 conditions |
| MYO9Amyosin IXA | Always | In 1 condition |
| NEK9NIMA related kinase 9 | Always | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Always | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Always | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Always | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Always | In 1 condition |
| POLR3GLRNA polymerase III subunit GL | Always | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Always | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 1 condition |
| REEP1receptor accessory protein 1 | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Always | In 2 conditions |
| SLC31A1solute carrier family 31 member 1 | Always | In 1 condition |
Show 348 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Always | In 1 condition |
| SNAPINSNAP associated protein | Always | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Always | In 1 condition |
| TAF8TATA-box binding protein associated factor 8 | Always | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Always | In 1 condition |
| THOC2THO complex subunit 2 | Always | In 1 condition |
| TNNT3troponin T3, fast skeletal type | Always | In 1 condition |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Always | In 1 condition |
| COG4component of oligomeric golgi complex 4 | Very often (80–99%) | In 2 conditions |
| EIF4A3eukaryotic translation initiation factor 4A3 | Very often (80–99%) | In 2 conditions |
| GLI3GLI family zinc finger 3 | Very often (80–99%) | In 1 condition |
| HSPB1heat shock protein family B (small) member 1 | Very often (80–99%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Very often (80–99%) | In 2 conditions |
| NALCNsodium leak channel, non-selective | Very often (80–99%) | In 3 conditions |
| RBM10RNA binding motif protein 10 | Very often (80–99%) | In 2 conditions |
| TBX4T-box transcription factor 4 | Very often (80–99%) | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | Very often (80–99%) | In 3 conditions |
| ADGRG6adhesion G protein-coupled receptor G6 | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Often (30–79%) | In 3 conditions |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Often (30–79%) | In 2 conditions |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Often (30–79%) | In 1 condition |
| ARSIarylsulfatase family member I | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| ATRXATRX chromatin remodeler | Often (30–79%) | In 3 conditions |
| B3GALT6beta-1,3-galactosyltransferase 6 | Often (30–79%) | In 3 conditions |
| BMPERBMP binding endothelial regulator | Often (30–79%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Often (30–79%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Often (30–79%) | In 2 conditions |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| COL3A1collagen type III alpha 1 chain | Often (30–79%) | In 3 conditions |
| CPLX1complexin 1 | Often (30–79%) | In 2 conditions |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 2 conditions |
| DONSONDNA replication fork stabilization factor DONSON | Often (30–79%) | In 2 conditions |
| DRG1developmentally regulated GTP binding protein 1 | Often (30–79%) | In 1 condition |
| DSEdermatan sulfate epimerase | Often (30–79%) | In 2 conditions |
| DSTdystonin | Often (30–79%) | In 2 conditions |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Often (30–79%) | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Often (30–79%) | In 1 condition |
| ERCC5ERCC excision repair 5, endonuclease | Often (30–79%) | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Often (30–79%) | In 2 conditions |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 1 condition |
| FEM1Bfem-1 homolog B | Often (30–79%) | In 1 condition |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Often (30–79%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Often (30–79%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Often (30–79%) | In 1 condition |
| FILIP1filamin A interacting protein 1 | Often (30–79%) | In 1 condition |
| FKBP10FKBP prolyl isomerase 10 | Often (30–79%) | In 2 conditions |
| FLNBfilamin B | Often (30–79%) | In 7 conditions |
| FUZfuzzy planar cell polarity protein | Often (30–79%) | In 1 condition |
| FXNfrataxin | Often (30–79%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Often (30–79%) | In 1 condition |
| GANgigaxonin | Often (30–79%) | In 2 conditions |
| GBE11,4-alpha-glucan branching enzyme 1 | Often (30–79%) | In 1 condition |
| GCH1GTP cyclohydrolase 1 | Often (30–79%) | In 2 conditions |
| GDAP1ganglioside induced differentiation associated protein 1 | Often (30–79%) | In 3 conditions |
| GSCgoosecoid homeobox | Often (30–79%) | In 1 condition |
| GUSBglucuronidase beta | Often (30–79%) | In 1 condition |
| GZF1GDNF inducible zinc finger protein 1 | Often (30–79%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Often (30–79%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Often (30–79%) | In 1 condition |
| HK1hexokinase 1 | Often (30–79%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Often (30–79%) | In 4 conditions |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Often (30–79%) | In 1 condition |
| IMPDH2inosine monophosphate dehydrogenase 2 | Often (30–79%) | In 1 condition |
| IPO8importin 8 | Often (30–79%) | In 2 conditions |
| KIDINS220kinase D interacting substrate 220 | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 2 conditions |
| LIFRLIF receptor subunit alpha | Often (30–79%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Often (30–79%) | In 3 conditions |
| MCTP2multiple C2 and transmembrane domain containing 2 | Often (30–79%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Often (30–79%) | In 2 conditions |
| MPZmyelin protein zero | Often (30–79%) | In 1 condition |
| MTRFRmitochondrial translation release factor in rescue | Often (30–79%) | In 2 conditions |
| MUSKmuscle associated receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| MYBPC1myosin binding protein C1 | Often (30–79%) | In 1 condition |
| MYL11myosin light chain 11 | Often (30–79%) | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Often (30–79%) | In 2 conditions |
| MYMXmyomixer, myoblast fusion factor | Often (30–79%) | In 1 condition |
| NEK8NIMA related kinase 8 | Often (30–79%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
| NKX3-2NK3 homeobox 2 | Often (30–79%) | In 1 condition |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Often (30–79%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 2 conditions |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Often (30–79%) | In 2 conditions |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Often (30–79%) | In 2 conditions |
| PLXND1plexin D1 | Often (30–79%) | In 1 condition |
| PMP22peripheral myelin protein 22 | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Often (30–79%) | In 1 condition |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Often (30–79%) | In 1 condition |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Often (30–79%) | In 1 condition |
| RINT1RAD50 interactor 1 | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 3 conditions |
| RYR3ryanodine receptor 3 | Often (30–79%) | In 1 condition |
| SC5Dsterol-C5-desaturase | Often (30–79%) | In 1 condition |
| SEC31ASEC31 homolog A, COPII component | Often (30–79%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Often (30–79%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Often (30–79%) | In 1 condition |
| SHROOM4shroom family member 4 | Often (30–79%) | In 1 condition |
| SKISKI proto-oncogene | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 6 conditions |
| SMAD2SMAD family member 2 | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 2 conditions |
| SNCAsynuclein alpha | Often (30–79%) | In 1 condition |
| SNX14sorting nexin 14 | Often (30–79%) | In 2 conditions |
| SOX9SRY-box transcription factor 9 | Often (30–79%) | In 2 conditions |
| STAC3SH3 and cysteine rich domain 3 | Often (30–79%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Often (30–79%) | In 1 condition |
| TGFB2transforming growth factor beta 2 | Often (30–79%) | In 2 conditions |
| TGFB3transforming growth factor beta 3 | Often (30–79%) | In 2 conditions |
| TGFBR1transforming growth factor beta receptor 1 | Often (30–79%) | In 2 conditions |
| TGFBR2transforming growth factor beta receptor 2 | Often (30–79%) | In 2 conditions |
| THtyrosine hydroxylase | Often (30–79%) | In 1 condition |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Often (30–79%) | In 1 condition |
| TOR1Atorsin family 1 member A | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 2 conditions |
| TSPOAP1TSPO associated protein 1 | Often (30–79%) | In 1 condition |
| USP8ubiquitin specific peptidase 8 | Often (30–79%) | In 1 condition |
| VANGL1VANGL planar cell polarity protein 1 | Often (30–79%) | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Often (30–79%) | In 1 condition |
| VWA1von Willebrand factor A domain containing 1 | Often (30–79%) | In 1 condition |
| WNT7AWnt family member 7A | Often (30–79%) | In 2 conditions |
| ZNF148zinc finger protein 148 | Often (30–79%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 2 conditions |
| ADAMTS15ADAM metallopeptidase with thrombospondin type 1 motif 15 | Sometimes (5–29%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ANK1ankyrin 1 | Sometimes (5–29%) | In 1 condition |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Sometimes (5–29%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Sometimes (5–29%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Sometimes (5–29%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Sometimes (5–29%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Sometimes (5–29%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Sometimes (5–29%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Sometimes (5–29%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| BIN1bridging integrator 1 | Sometimes (5–29%) | In 2 conditions |
| BMPR1Bbone morphogenetic protein receptor type 1B | Sometimes (5–29%) | In 2 conditions |
| CEP19centrosomal protein 19 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Sometimes (5–29%) | In 1 condition |
| CHMP1Acharged multivesicular body protein 1A | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| CHRM3cholinergic receptor muscarinic 3 | Sometimes (5–29%) | In 2 conditions |
| COASYCoenzyme A synthase | Sometimes (5–29%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A2collagen type V alpha 2 chain | Sometimes (5–29%) | In 2 conditions |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 1 condition |
| CTHcystathionine gamma-lyase | Sometimes (5–29%) | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Sometimes (5–29%) | In 2 conditions |
| DHX16DEAH-box helicase 16 | Sometimes (5–29%) | In 1 condition |
| DYMdymeclin | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Sometimes (5–29%) | In 1 condition |
| ECEL1endothelin converting enzyme like 1 | Sometimes (5–29%) | In 1 condition |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Sometimes (5–29%) | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Sometimes (5–29%) | In 1 condition |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Sometimes (5–29%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sometimes (5–29%) | In 1 condition |
| FBN2fibrillin 2 | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 1 condition |
| FKBP14FKBP prolyl isomerase 14 | Sometimes (5–29%) | In 1 condition |
| FKTNfukutin | Sometimes (5–29%) | In 1 condition |
| GDF5growth differentiation factor 5 | Sometimes (5–29%) | In 3 conditions |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 2 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| GPC3glypican 3 | Sometimes (5–29%) | In 2 conditions |
| GPC4glypican 4 | Sometimes (5–29%) | In 1 condition |
| H1-4H1.4 linker histone, cluster member | Sometimes (5–29%) | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Sometimes (5–29%) | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sometimes (5–29%) | In 1 condition |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sometimes (5–29%) | In 2 conditions |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT27intraflagellar transport 27 | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Sometimes (5–29%) | In 2 conditions |
| IHHIndian hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Sometimes (5–29%) | In 1 condition |
| ITGA7integrin subunit alpha 7 | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 2 conditions |
| KIF1Akinesin family member 1A | Sometimes (5–29%) | In 1 condition |
| KLHL40kelch like family member 40 | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| KMT5Blysine methyltransferase 5B | Sometimes (5–29%) | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 1 condition |
| LMOD3leiomodin 3 | Sometimes (5–29%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Sometimes (5–29%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Sometimes (5–29%) | In 1 condition |
| MYL2myosin light chain 2 | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 1 condition |
| NADSYN1NAD synthetase 1 | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Sometimes (5–29%) | In 1 condition |
| NKAPNFKB activating protein | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 2 conditions |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Sometimes (5–29%) | In 2 conditions |
| PLK4polo like kinase 4 | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Sometimes (5–29%) | In 1 condition |
| ROBO1roundabout guidance receptor 1 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SAMD9sterile alpha motif domain containing 9 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 3 conditions |
| SCAPERS-phase cyclin A associated protein in the ER | Sometimes (5–29%) | In 1 condition |
| SCARF2scavenger receptor class F member 2 | Sometimes (5–29%) | In 2 conditions |
| SCLT1sodium channel and clathrin linker 1 | Sometimes (5–29%) | In 1 condition |
| SCYL1SCY1 like pseudokinase 1 | Sometimes (5–29%) | In 2 conditions |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SELENONselenoprotein N | Sometimes (5–29%) | In 1 condition |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Sometimes (5–29%) | In 1 condition |
| SLC35A2solute carrier family 35 member A2 | Sometimes (5–29%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sometimes (5–29%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Sometimes (5–29%) | In 2 conditions |
| SNIP1Smad nuclear interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Sometimes (5–29%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Sometimes (5–29%) | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Sometimes (5–29%) | In 2 conditions |
| TBC1D23TBC1 domain family member 23 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 2 conditions |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| TFE3transcription factor binding to IGHM enhancer 3 | Sometimes (5–29%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Sometimes (5–29%) | In 1 condition |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Sometimes (5–29%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| TTNtitin | Sometimes (5–29%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Sometimes (5–29%) | In 2 conditions |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Rarely (1–4%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Rarely (1–4%) | In 1 condition |
| COL13A1collagen type XIII alpha 1 chain | Rarely (1–4%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Rarely (1–4%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Rarely (1–4%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Rarely (1–4%) | In 1 condition |
| ELNelastin | Rarely (1–4%) | In 1 condition |
| FBLN5fibulin 5 | Rarely (1–4%) | In 1 condition |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Rarely (1–4%) | In 1 condition |
| IRF6interferon regulatory factor 6 | Rarely (1–4%) | In 2 conditions |
| LAMB2laminin subunit beta 2 | Rarely (1–4%) | In 1 condition |
| MSX1msh homeobox 1 | Rarely (1–4%) | In 1 condition |
| NECTIN1nectin cell adhesion molecule 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| TAF11TATA-box binding protein associated factor 11 | Rarely (1–4%) | In 1 condition |
| TP63tumor protein p63 | Rarely (1–4%) | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Not recorded | In 1 condition |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Not recorded | In 1 condition |
| ARHGAP31Rho GTPase activating protein 31 | Not recorded | In 1 condition |
| ATAD1ATPase family AAA domain containing 1 | Not recorded | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Not recorded | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Not recorded | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| C12orf57chromosome 12 open reading frame 57 | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Not recorded | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Not recorded | In 1 condition |
| CRLF1cytokine receptor like factor 1 | Not recorded | In 1 condition |
| CTDP1CTD phosphatase 1 | Not recorded | In 1 condition |
| DESdesmin | Not recorded | In 1 condition |
| DPYSdihydropyrimidinase | Not recorded | In 1 condition |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Not recorded | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Not recorded | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| FOXG1forkhead box G1 | Not recorded | In 1 condition |
| GLE1GLE1 RNA export mediator | Not recorded | In 1 condition |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Not recorded | In 1 condition |
| JPH1junctophilin 1 | Not recorded | In 1 condition |
| L1CAML1 cell adhesion molecule | Not recorded | In 1 condition |
| LGI4leucine rich repeat LGI family member 4 | Not recorded | In 1 condition |
| LIMS2LIM zinc finger domain containing 2 | Not recorded | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Not recorded | In 1 condition |
| MEGF10multiple EGF like domains 10 | Not recorded | In 1 condition |
| MTMR2myotubularin related protein 2 | Not recorded | In 1 condition |
| MYH8myosin heavy chain 8 | Not recorded | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Not recorded | In 1 condition |
| ORC1origin recognition complex subunit 1 | Not recorded | In 1 condition |
| ORC6origin recognition complex subunit 6 | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 3 conditions |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Not recorded | In 1 condition |
| PITX1paired like homeodomain 1 | Not recorded | In 1 condition |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Not recorded | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Not recorded | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| SBF2SET binding factor 2 | Not recorded | In 1 condition |
| SETBP1SET binding protein 1 | Not recorded | In 1 condition |
| SLC25A19solute carrier family 25 member 19 | Not recorded | In 1 condition |
| SLC6A9solute carrier family 6 member 9 | Not recorded | In 1 condition |
| SMSspermine synthase | Not recorded | In 1 condition |
| TBX15T-box transcription factor 15 | Not recorded | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Not recorded | In 1 condition |
| TNNI2troponin I2, fast skeletal type | Not recorded | In 1 condition |
| TRAIPTRAF interacting protein | Not recorded | In 1 condition |
| TRIM2tripartite motif containing 2 | Not recorded | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Not recorded | In 2 conditions |
| WDR73WD repeat domain 73 | Not recorded | In 1 condition |
| WNK3WNK lysine deficient protein kinase 3 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 2 conditions |
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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