Trait
Open skin sore
Clinical name: Skin ulcer
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Summary
- Body system
- Abnormality of the integument
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test115 genes linked to Open skin sore
Changes in these genes cause rare conditions in which Open skin sore 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 |
|---|---|---|
| PEPDpeptidase D | Always | In 2 conditions |
| STAT4signal transducer and activator of transcription 4 | Always | In 1 condition |
| TREX1three prime repair exonuclease 1 | Always | In 1 condition |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 2 conditions |
| BTKBruton tyrosine kinase | Very often (80–99%) | In 1 condition |
| CCT5chaperonin containing TCP1 subunit 5 | Very often (80–99%) | In 1 condition |
| CLEC7AC-type lectin domain containing 7A | Very often (80–99%) | In 1 condition |
| DOCK8dedicator of cytokinesis 8 | Very often (80–99%) | In 1 condition |
| IL17Finterleukin 17F | Very often (80–99%) | In 1 condition |
| IL17RAinterleukin 17 receptor A | Very often (80–99%) | In 1 condition |
| IL17RCinterleukin 17 receptor C | Very often (80–99%) | In 1 condition |
| LAMA3laminin subunit alpha 3 | Very often (80–99%) | In 2 conditions |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| LYSTlysosomal trafficking regulator | Very often (80–99%) | In 1 condition |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Very often (80–99%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Very often (80–99%) | In 1 condition |
| TP63tumor protein p63 | Very often (80–99%) | In 1 condition |
| TRAF3IP2TRAF3 interacting protein 2 | Very often (80–99%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Often (30–79%) | In 1 condition |
| AQP5aquaporin 5 | Often (30–79%) | In 1 condition |
| ATL1atlastin GTPase 1 | Often (30–79%) | In 1 condition |
| ATL3atlastin GTPase 3 | Often (30–79%) | In 1 condition |
| BMS1BMS1 ribosome biogenesis factor | Often (30–79%) | In 1 condition |
| CAV1caveolin 1 | Often (30–79%) | In 2 conditions |
| CCN2cellular communication network factor 2 | Often (30–79%) | In 2 conditions |
| CCR6C-C motif chemokine receptor 6 | Often (30–79%) | In 2 conditions |
| COL1A1collagen type I alpha 1 chain | Often (30–79%) | In 1 condition |
| CTC1CST telomere replication complex component 1 | Often (30–79%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Often (30–79%) | In 1 condition |
| GBE11,4-alpha-glucan branching enzyme 1 | Often (30–79%) | In 1 condition |
| HAVCR2hepatitis A virus cellular receptor 2 | Often (30–79%) | In 1 condition |
| HBBhemoglobin subunit beta | Often (30–79%) | In 4 conditions |
| HLA-Bmajor histocompatibility complex, class I, B | Often (30–79%) | In 2 conditions |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Often (30–79%) | In 3 conditions |
| IL12Binterleukin 12B | Often (30–79%) | In 1 condition |
| IRF5interferon regulatory factor 5 | Often (30–79%) | In 2 conditions |
| ITGB4integrin subunit beta 4 | Often (30–79%) | In 1 condition |
| KIAA0319LKIAA0319 like | Often (30–79%) | In 1 condition |
Show 75 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| LBRlamin B receptor | Often (30–79%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Often (30–79%) | In 1 condition |
| MLXMAX dimerization protein MLX | Often (30–79%) | In 1 condition |
| NHP2NHP2 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NPM1nucleophosmin 1 | Often (30–79%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Often (30–79%) | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Often (30–79%) | In 1 condition |
| PERPp53 apoptosis effector related to PMP22 | Often (30–79%) | In 1 condition |
| PLECplectin | Often (30–79%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Often (30–79%) | In 1 condition |
| SLC19A1solute carrier family 19 member 1 | Often (30–79%) | In 1 condition |
| SLC39A4solute carrier family 39 member 4 | Often (30–79%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Often (30–79%) | In 1 condition |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Often (30–79%) | In 2 conditions |
| TERCtelomerase RNA component | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Often (30–79%) | In 1 condition |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Often (30–79%) | In 1 condition |
| TYMSthymidylate synthetase | Often (30–79%) | In 1 condition |
| UBA2ubiquitin like modifier activating enzyme 2 | Often (30–79%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Often (30–79%) | In 1 condition |
| WRNWRN RecQ like helicase | Often (30–79%) | In 1 condition |
| AK2adenylate kinase 2 | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| CD28CD28 molecule | Sometimes (5–29%) | In 1 condition |
| CDH23cadherin related 23 | Sometimes (5–29%) | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Sometimes (5–29%) | In 2 conditions |
| CYBAcytochrome b-245 alpha chain | Sometimes (5–29%) | In 1 condition |
| CYBBcytochrome b-245 beta chain | Sometimes (5–29%) | In 1 condition |
| CYBC1cytochrome b-245 chaperone 1 | Sometimes (5–29%) | In 1 condition |
| EPB41erythrocyte membrane protein band 4.1 | Sometimes (5–29%) | In 1 condition |
| EPHB4EPH receptor B4 | Sometimes (5–29%) | In 1 condition |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 1 condition |
| GYPCglycophorin C (Gerbich blood group) | Sometimes (5–29%) | In 1 condition |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Sometimes (5–29%) | In 1 condition |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Sometimes (5–29%) | In 1 condition |
| ITGB2integrin subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| KRT1keratin 1 | Sometimes (5–29%) | In 1 condition |
| KRT10keratin 10 | Sometimes (5–29%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Sometimes (5–29%) | In 1 condition |
| NCF2neutrophil cytosolic factor 2 | Sometimes (5–29%) | In 1 condition |
| NCF4neutrophil cytosolic factor 4 | Sometimes (5–29%) | In 1 condition |
| NOD2nucleotide binding oligomerization domain containing 2 | Sometimes (5–29%) | In 2 conditions |
| NOTCH2notch receptor 2 | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| PGM3phosphoglucomutase 3 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| PROS1protein S | Sometimes (5–29%) | In 1 condition |
| PRTN3proteinase 3 | Sometimes (5–29%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Sometimes (5–29%) | In 1 condition |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Sometimes (5–29%) | In 2 conditions |
| RASA1RAS p21 protein activator 1 | Sometimes (5–29%) | In 1 condition |
| SPTA1spectrin alpha, erythrocytic 1 | Sometimes (5–29%) | In 2 conditions |
| SPTBspectrin beta, erythrocytic | Sometimes (5–29%) | In 2 conditions |
| TNFRSF1BTNF receptor superfamily member 1B | Sometimes (5–29%) | In 1 condition |
| TP53tumor protein p53 | Sometimes (5–29%) | In 1 condition |
| USP48ubiquitin specific peptidase 48 | Sometimes (5–29%) | In 1 condition |
| USP8ubiquitin specific peptidase 8 | Sometimes (5–29%) | In 1 condition |
| WASWASP actin nucleation promoting factor | Sometimes (5–29%) | In 1 condition |
| ANK1ankyrin 1 | Rarely (1–4%) | In 1 condition |
| EPB42erythrocyte membrane protein band 4.2 | Rarely (1–4%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Rarely (1–4%) | In 1 condition |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Rarely (1–4%) | In 1 condition |
| TAP1transporter 1, ATP binding cassette subfamily B member | 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.
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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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