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Trait
Firm lump under the skin
Clinical name: Subcutaneous nodule
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Summary
- Also called
- Growth of abnormal tissue under the skin, Nodule below the skin
- Body system
- Abnormality of the integument
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/subcutaneous-nodule.json"
page <- fromJSON(url)
page$trait$nameFirm lump under the skinHP:0001482
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Get my Genome Test81 genes linked to Firm lump under the skin
Changes in these genes cause rare conditions in which Firm lump under the skin 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 |
|---|---|---|
| ASAH1N-acylsphingosine amidohydrolase 1 | Always | In 1 condition |
| GLSglutaminase | Always | In 1 condition |
| POMPproteasome maturation protein | Always | In 1 condition |
| ACVR1activin A receptor type 1 | Very often (80–99%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Very often (80–99%) | In 1 condition |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 3 conditions |
| APCAPC regulator of Wnt signaling pathway | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 3 conditions |
| C4Acomplement C4A (Chido/Rodgers blood group) | Very often (80–99%) | In 1 condition |
| CCR1C-C motif chemokine receptor 1 | Very often (80–99%) | In 1 condition |
| CDK4cyclin dependent kinase 4 | Very often (80–99%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Very often (80–99%) | In 1 condition |
| CTNNB1catenin beta 1 | Very often (80–99%) | In 2 conditions |
| CYLDCYLD lysine 63 deubiquitinase | Very often (80–99%) | In 2 conditions |
| DDIT3DNA damage inducible transcript 3 | Very often (80–99%) | In 1 condition |
| ECM1extracellular matrix protein 1 | Very often (80–99%) | In 1 condition |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Very often (80–99%) | In 1 condition |
| FASFas cell surface death receptor | Very often (80–99%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 1 condition |
| FUSFUS RNA binding protein | Very often (80–99%) | In 1 condition |
| GLAgalactosidase alpha | Very often (80–99%) | In 1 condition |
| GNASGNAS complex locus | Very often (80–99%) | In 1 condition |
| HLA-Bmajor histocompatibility complex, class I, B | Very often (80–99%) | In 1 condition |
| HMGA2high mobility group AT-hook 2 | Very often (80–99%) | In 2 conditions |
| IFNGR1interferon gamma receptor 1 | Very often (80–99%) | In 1 condition |
| IL10interleukin 10 | Very often (80–99%) | In 1 condition |
| IL12Ainterleukin 12A | Very often (80–99%) | In 1 condition |
| IL12A-AS1IL12A antisense RNA 1 | Very often (80–99%) | In 1 condition |
| IL23Rinterleukin 23 receptor | Very often (80–99%) | In 1 condition |
| INSRinsulin receptor | Very often (80–99%) | In 1 condition |
| KLRC4killer cell lectin like receptor C4 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 1 condition |
| LSSlanosterol synthase | Very often (80–99%) | In 1 condition |
| MDM2MDM2 proto-oncogene | Very often (80–99%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Very often (80–99%) | In 1 condition |
| NAGAalpha-N-acetylgalactosaminidase | Very often (80–99%) | In 1 condition |
| NOTCH3notch receptor 3 | Very often (80–99%) | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Very often (80–99%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Very often (80–99%) | In 1 condition |
Show 41 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 3 conditions |
| STAT4signal transducer and activator of transcription 4 | Very often (80–99%) | In 1 condition |
| TLR4toll like receptor 4 | Very often (80–99%) | In 1 condition |
| UBAC2UBA domain containing 2 | Very often (80–99%) | In 1 condition |
| B2Mbeta-2-microglobulin | Often (30–79%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Often (30–79%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Often (30–79%) | In 2 conditions |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Often (30–79%) | In 2 conditions |
| MMP14matrix metallopeptidase 14 | Often (30–79%) | In 1 condition |
| MMP2matrix metallopeptidase 2 | Often (30–79%) | In 2 conditions |
| PORCNporcupine O-acyltransferase | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 1 condition |
| SALL1spalt like transcription factor 1 | Often (30–79%) | In 1 condition |
| TEKTEK receptor tyrosine kinase | Often (30–79%) | In 1 condition |
| ABCC6ATP binding cassette subfamily C member 6 | Sometimes (5–29%) | In 1 condition |
| ALKALK receptor tyrosine kinase | Sometimes (5–29%) | In 2 conditions |
| BTNL2butyrophilin like 2 | Sometimes (5–29%) | In 1 condition |
| COL7A1collagen type VII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| FBN1fibrillin 1 | Sometimes (5–29%) | In 1 condition |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| LEMD3LEM domain containing 3 | Sometimes (5–29%) | In 2 conditions |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Sometimes (5–29%) | In 1 condition |
| LMO1LIM domain only 1 | Sometimes (5–29%) | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Sometimes (5–29%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sometimes (5–29%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| PHOX2Bpaired like homeobox 2B | Sometimes (5–29%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sometimes (5–29%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 2 conditions |
| SOX5SRY-box transcription factor 5 | Sometimes (5–29%) | In 1 condition |
| TNFRSF11ATNF receptor superfamily member 11a | Sometimes (5–29%) | In 1 condition |
| TNFRSF11BTNF receptor superfamily member 11b | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 1 condition |
| FERMT3FERM domain containing kindlin 3 | Not recorded | In 1 condition |
| IFNGinterferon gamma | Not recorded | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Not recorded | In 1 condition |
| TSC1TSC complex subunit 1 | Not recorded | In 1 condition |
| TSC2TSC complex subunit 2 | 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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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 2026.10.17-8666dff2.
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