Trait
Flexed joint that cannot be straightened
Clinical name: Flexion contracture
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Summary
- Also called
- Flexion contractures, Flexion contractures of joints
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test341 genes linked to Flexed joint that cannot be straightened
Changes in these genes cause rare conditions in which Flexed joint that cannot be straightened 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 |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Always | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| ARSBarylsulfatase B | Always | In 1 condition |
| ATP11AATPase phospholipid transporting 11A | Always | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Always | In 1 condition |
| BANF1barrier to autointegration nuclear assembly factor 1 | Always | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 1 condition |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Always | In 1 condition |
| CLDN11claudin 11 | Always | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Always | In 5 conditions |
| COL25A1collagen type XXV alpha 1 chain | Always | In 1 condition |
| DNM2dynamin 2 | Always | In 2 conditions |
| DSTdystonin | Always | In 1 condition |
| ECE1endothelin converting enzyme 1 | Always | In 1 condition |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Always | In 1 condition |
| FANCCFA complementation group C | Always | In 1 condition |
| FHL1four and a half LIM domains 1 | Always | In 2 conditions |
| FLNAfilamin A | Always | In 2 conditions |
| FUCA1alpha-L-fucosidase 1 | Always | In 1 condition |
| GOLGA2golgin A2 | Always | In 1 condition |
| KCNK3potassium two pore domain channel subfamily K member 3 | Always | In 1 condition |
| KYkyphoscoliosis peptidase | Always | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Always | In 1 condition |
| MYBPC1myosin binding protein C1 | Always | In 2 conditions |
| MYH3myosin heavy chain 3 | Always | In 1 condition |
| PHACTR1phosphatase and actin regulator 1 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| PSMB8proteasome 20S subunit beta 8 | Always | In 1 condition |
| PSMG2proteasome assembly chaperone 2 | Always | In 1 condition |
| PTF1Apancreas associated transcription factor 1a | Always | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| RNF13ring finger protein 13 | Always | In 2 conditions |
| RNU6ATACRNA, U6atac small nuclear | Always | In 1 condition |
| SCYL2SCY1 like pseudokinase 2 | Always | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Always | In 1 condition |
| SEC31ASEC31 homolog A, COPII component | Always | In 1 condition |
| SHPKsedoheptulokinase | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
Show 301 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 2 conditions |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Always | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Always | In 2 conditions |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Always | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Always | In 2 conditions |
| ZPR1ZPR1 zinc finger | Always | In 1 condition |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Very often (80–99%) | In 2 conditions |
| ASXL1ASXL transcriptional regulator 1 | Very often (80–99%) | In 1 condition |
| B4GALT7beta-1,4-galactosyltransferase 7 | Very often (80–99%) | In 2 conditions |
| CHST3carbohydrate sulfotransferase 3 | Very often (80–99%) | In 2 conditions |
| CLCF1cardiotrophin like cytokine factor 1 | Very often (80–99%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Very often (80–99%) | In 3 conditions |
| COL6A2collagen type VI alpha 2 chain | Very often (80–99%) | In 2 conditions |
| COL6A3collagen type VI alpha 3 chain | Very often (80–99%) | In 2 conditions |
| COL7A1collagen type VII alpha 1 chain | Very often (80–99%) | In 3 conditions |
| CRLF1cytokine receptor like factor 1 | Very often (80–99%) | In 1 condition |
| DMDdystrophin | Very often (80–99%) | In 2 conditions |
| ERLIN2ER lipid raft associated 2 | Very often (80–99%) | In 1 condition |
| FBN1fibrillin 1 | Very often (80–99%) | In 2 conditions |
| FBN2fibrillin 2 | Very often (80–99%) | In 1 condition |
| FKTNfukutin | Very often (80–99%) | In 3 conditions |
| GUSBglucuronidase beta | Very often (80–99%) | In 1 condition |
| KLHL40kelch like family member 40 | Very often (80–99%) | In 2 conditions |
| LTBP4latent transforming growth factor beta binding protein 4 | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 2 conditions |
| MMP1matrix metallopeptidase 1 | Very often (80–99%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Very often (80–99%) | In 2 conditions |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 5 conditions |
| ADGRG1adhesion G protein-coupled receptor G1 | Often (30–79%) | In 1 condition |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Often (30–79%) | In 1 condition |
| BIN1bridging integrator 1 | Often (30–79%) | In 1 condition |
| CAPN3calpain 3 | Often (30–79%) | In 2 conditions |
| CAV1caveolin 1 | Often (30–79%) | In 1 condition |
| CAVIN1caveolae associated protein 1 | Often (30–79%) | In 1 condition |
| CCN2cellular communication network factor 2 | Often (30–79%) | In 1 condition |
| CCR6C-C motif chemokine receptor 6 | Often (30–79%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Often (30–79%) | In 2 conditions |
| DCXdoublecortin | Often (30–79%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Often (30–79%) | In 2 conditions |
| ELNelastin | Often (30–79%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Often (30–79%) | In 3 conditions |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| EXOC8exocyst complex component 8 | Often (30–79%) | In 1 condition |
| FITM2fat storage inducing transmembrane protein 2 | Often (30–79%) | In 1 condition |
| FOXP1forkhead box P1 | Often (30–79%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Often (30–79%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Often (30–79%) | In 2 conditions |
| GBE11,4-alpha-glucan branching enzyme 1 | Often (30–79%) | In 1 condition |
| GDAP1ganglioside induced differentiation associated protein 1 | Often (30–79%) | In 2 conditions |
| GLULglutamate-ammonia ligase | Often (30–79%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Often (30–79%) | In 1 condition |
| H3-3AH3.3 histone A | Often (30–79%) | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Often (30–79%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 1 condition |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Often (30–79%) | In 1 condition |
| IDSiduronate 2-sulfatase | Often (30–79%) | In 1 condition |
| IRF5interferon regulatory factor 5 | Often (30–79%) | In 1 condition |
| ITGA7integrin subunit alpha 7 | Often (30–79%) | In 1 condition |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Often (30–79%) | In 2 conditions |
| KIAA0753KIAA0753 | Often (30–79%) | In 1 condition |
| KLHL41kelch like family member 41 | Often (30–79%) | In 4 conditions |
| KRT1keratin 1 | Often (30–79%) | In 1 condition |
| LAMA2laminin subunit alpha 2 | Often (30–79%) | In 2 conditions |
| LIFRLIF receptor subunit alpha | Often (30–79%) | In 1 condition |
| LMNAlamin A/C | Often (30–79%) | In 3 conditions |
| LMOD3leiomodin 3 | Often (30–79%) | In 3 conditions |
| LMX1BLIM homeobox transcription factor 1 beta | Often (30–79%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Often (30–79%) | In 1 condition |
| MEG3maternally expressed 3 | Often (30–79%) | In 2 conditions |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| MTX2metaxin 2 | Often (30–79%) | In 1 condition |
| MYL2myosin light chain 2 | Often (30–79%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 5 conditions |
| NSRP1nuclear speckle splicing regulatory protein 1 | Often (30–79%) | In 1 condition |
| PI4KAphosphatidylinositol 4-kinase alpha | Often (30–79%) | In 1 condition |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Often (30–79%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Often (30–79%) | In 2 conditions |
| RTTNrotatin | Often (30–79%) | In 1 condition |
| SELENONselenoprotein N | Often (30–79%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 1 condition |
| SLURP1secreted LY6/PLAUR domain containing 1 | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| SNAPINSNAP associated protein | Often (30–79%) | In 1 condition |
| SRPX2sushi repeat containing protein X-linked 2 | Often (30–79%) | In 1 condition |
| TMEM70transmembrane protein 70 | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 3 conditions |
| TPM3tropomyosin 3 | Often (30–79%) | In 4 conditions |
| VWA1von Willebrand factor A domain containing 1 | Often (30–79%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Often (30–79%) | In 1 condition |
| ADGRG6adhesion G protein-coupled receptor G6 | Sometimes (5–29%) | In 1 condition |
| AHSGalpha 2-HS glycoprotein | Sometimes (5–29%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sometimes (5–29%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ANKRD55ankyrin repeat domain 55 | Sometimes (5–29%) | In 1 condition |
| ANO5anoctamin 5 | Sometimes (5–29%) | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Sometimes (5–29%) | In 1 condition |
| ATMATM serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Sometimes (5–29%) | In 2 conditions |
| BMPR1Abone morphogenetic protein receptor type 1A | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CD247CD247 molecule | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 4 conditions |
| CFL2cofilin 2 | Sometimes (5–29%) | In 1 condition |
| CHEK2checkpoint kinase 2 | Sometimes (5–29%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Sometimes (5–29%) | In 2 conditions |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 4 conditions |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 4 conditions |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 4 conditions |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Sometimes (5–29%) | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 3 conditions |
| EBPEBP cholestenol delta-isomerase | Sometimes (5–29%) | In 1 condition |
| EPCAMepithelial cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| 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 |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 2 conditions |
| FERMT1FERM domain containing kindlin 1 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 2 conditions |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 4 conditions |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 4 conditions |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Sometimes (5–29%) | In 1 condition |
| GLDNgliomedin | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 4 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| GPT2glutamic--pyruvic transaminase 2 | Sometimes (5–29%) | In 1 condition |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Sometimes (5–29%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| HINT1histidine triad nucleotide binding protein 1 | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Sometimes (5–29%) | In 1 condition |
| IL2RAinterleukin 2 receptor subunit alpha | Sometimes (5–29%) | In 1 condition |
| IL2RBinterleukin 2 receptor subunit beta | Sometimes (5–29%) | In 1 condition |
| ITGB4integrin subunit beta 4 | Sometimes (5–29%) | In 1 condition |
| ITGB6integrin subunit beta 6 | Sometimes (5–29%) | In 1 condition |
| KBTBD13kelch repeat and BTB domain containing 13 | Sometimes (5–29%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 1 condition |
| KIF1Akinesin family member 1A | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Sometimes (5–29%) | In 1 condition |
| LPIN2lipin 2 | Sometimes (5–29%) | In 2 conditions |
| LSSlanosterol synthase | Sometimes (5–29%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Sometimes (5–29%) | In 1 condition |
| MFN2mitofusin 2 | Sometimes (5–29%) | In 2 conditions |
| MLH1mutL homolog 1 | Sometimes (5–29%) | In 1 condition |
| MSH2mutS homolog 2 | Sometimes (5–29%) | In 1 condition |
| MSH6mutS homolog 6 | Sometimes (5–29%) | In 1 condition |
| MUTYHmutY DNA glycosylase | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 1 condition |
| NACC1nucleus accumbens associated 1 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 4 conditions |
| NPATnuclear protein, coactivator of histone transcription | Sometimes (5–29%) | In 1 condition |
| NPPAnatriuretic peptide A | Sometimes (5–29%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Sometimes (5–29%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Sometimes (5–29%) | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sometimes (5–29%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PLA2G6phospholipase A2 group VI | Sometimes (5–29%) | In 1 condition |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 1 condition |
| PLECplectin | Sometimes (5–29%) | In 3 conditions |
| PMS1PMS1 homolog 1, mismatch repair system component | Sometimes (5–29%) | In 1 condition |
| PMS2PMS1 homolog 2, mismatch repair system component | Sometimes (5–29%) | In 1 condition |
| POLD1DNA polymerase delta 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 2 conditions |
| PTCH1patched 1 | Sometimes (5–29%) | In 4 conditions |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sometimes (5–29%) | In 1 condition |
| RPS20ribosomal protein S20 | Sometimes (5–29%) | In 1 condition |
| RYR1ryanodine receptor 1 | Sometimes (5–29%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 2 conditions |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Sometimes (5–29%) | In 1 condition |
| SEMA4Asemaphorin 4A | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 4 conditions |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 4 conditions |
| SLC16A2solute carrier family 16 member 2 | Sometimes (5–29%) | In 2 conditions |
| SLC39A13solute carrier family 39 member 13 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Sometimes (5–29%) | In 2 conditions |
| STAT4signal transducer and activator of transcription 4 | Sometimes (5–29%) | In 1 condition |
| STILSTIL centriolar assembly protein | Sometimes (5–29%) | In 4 conditions |
| STIM1stromal interaction molecule 1 | Sometimes (5–29%) | In 1 condition |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sometimes (5–29%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Sometimes (5–29%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 4 conditions |
| TGM1transglutaminase 1 | Sometimes (5–29%) | In 1 condition |
| USP7ubiquitin specific peptidase 7 | Sometimes (5–29%) | In 1 condition |
| VMA21vacuolar ATPase assembly factor VMA21 | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 4 conditions |
| CNTNAP1contactin associated protein 1 | Rarely (1–4%) | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 2 conditions |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Rarely (1–4%) | In 1 condition |
| NARS1asparaginyl-tRNA synthetase 1 | Rarely (1–4%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Rarely (1–4%) | In 1 condition |
| ACADSacyl-CoA dehydrogenase short chain | Not recorded | In 1 condition |
| ADCY6adenylate cyclase 6 | Not recorded | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Not recorded | In 1 condition |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Not recorded | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Not recorded | In 1 condition |
| AP4B1adaptor related protein complex 4 subunit beta 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 |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Not recorded | In 1 condition |
| ATAD1ATPase family AAA domain containing 1 | Not recorded | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Not recorded | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Not recorded | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| CHRNDcholinergic receptor nicotinic delta subunit | Not recorded | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Not recorded | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Not recorded | In 1 condition |
| COQ7coenzyme Q7, hydroxylase | Not recorded | In 1 condition |
| DEGS1delta 4-desaturase, sphingolipid 1 | Not recorded | In 1 condition |
| EEDembryonic ectoderm development | Not recorded | In 1 condition |
| EP300EP300 lysine acetyltransferase | Not recorded | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Not recorded | In 1 condition |
| EXOSC3exosome component 3 | Not recorded | In 1 condition |
| EXOSC9exosome component 9 | Not recorded | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| GDF5growth differentiation factor 5 | Not recorded | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Not recorded | In 1 condition |
| HSPD1heat shock protein family D (Hsp60) member 1 | Not recorded | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| IDUAalpha-L-iduronidase | Not recorded | In 1 condition |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Not recorded | In 1 condition |
| KLC2kinesin light chain 2 | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| LEMD3LEM domain containing 3 | Not recorded | In 1 condition |
| LGI4leucine rich repeat LGI family member 4 | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MPDU1mannose-P-dolichol utilization defect 1 | Not recorded | In 1 condition |
| MTM1myotubularin 1 | Not recorded | In 1 condition |
| MTMR14myotubularin related protein 14 | Not recorded | In 1 condition |
| MYL1myosin light chain 1 | Not recorded | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Not recorded | In 1 condition |
| MYO18Bmyosin XVIIIB | Not recorded | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Not recorded | In 1 condition |
| NEFLneurofilament light chain | Not recorded | In 1 condition |
| NKX3-2NK3 homeobox 2 | Not recorded | In 1 condition |
| NT5C25'-nucleotidase, cytosolic II | Not recorded | In 1 condition |
| ORC1origin recognition complex subunit 1 | Not recorded | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Not recorded | In 1 condition |
| PEX7peroxisomal biogenesis factor 7 | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 1 condition |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Not recorded | In 1 condition |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Not recorded | In 1 condition |
| PLP1proteolipid protein 1 | Not recorded | In 1 condition |
| PMM2phosphomannomutase 2 | Not recorded | In 1 condition |
| POMKprotein O-mannose kinase | Not recorded | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Not recorded | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Not recorded | In 1 condition |
| POP1POP1 ribonuclease P/MRP subunit | Not recorded | In 1 condition |
| PPT1palmitoyl-protein thioesterase 1 | Not recorded | In 1 condition |
| PSMB4proteasome 20S subunit beta 4 | Not recorded | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Not recorded | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Not recorded | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Not recorded | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Not recorded | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Not recorded | In 1 condition |
| SGCAsarcoglycan alpha | Not recorded | In 1 condition |
| SGCGsarcoglycan gamma | Not recorded | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Not recorded | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Not recorded | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Not recorded | In 1 condition |
| SLC25A19solute carrier family 25 member 19 | Not recorded | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Not recorded | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Not recorded | In 1 condition |
| SLC6A9solute carrier family 6 member 9 | Not recorded | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Not recorded | In 1 condition |
| SPARTspartin | Not recorded | In 1 condition |
| STAC3SH3 and cysteine rich domain 3 | Not recorded | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TMEM107transmembrane protein 107 | Not recorded | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Not recorded | In 1 condition |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Not recorded | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Not recorded | In 1 condition |
| UCHL1ubiquitin C-terminal hydrolase L1 | Not recorded | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Not recorded | In 1 condition |
| VPS53VPS53 subunit of GARP complex | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | 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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