Summary
Sunburn (MONDO:0005326) is a disease with 5 cohort genes (91 GWAS associations across 6 studies) and 17 clinical trials. Top therapeutic interventions include dexchlorpheniramine, diclofenac, and titanium dioxide.
At a glance
- Cohort genes: 5
- GWAS associations: 91
- Clinical trials: 17
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|
| Canonical name | sunburn |
| Mondo ID | MONDO:0005326 |
| EFO | EFO:0003958 |
| MeSH | D013471 |
| ICD-10-CM | L55 |
| ICD-11 | 318744822 |
| SNOMED CT | 403194002 |
| UMLS | C2136733 |
| MedGen | 1789170 |
| Is cancer (heuristic) | no |
Data availability: 91 GWAS associations (6 studies).
Disease family
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › sunburn
Related subtypes (71): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, erythematosquamous dermatosis, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, rosacea, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, vesiculobullous skin disease, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, Bazex-Dupre-Christol syndrome, nephrogenic systemic fibrosis, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, non-neoplastic nevus, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome
Genetics & variants
GWAS landscape
91 GWAS associations across 6 studies. Top hits map to 35 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|
| rs16891982 | 3e-320 | SLC45A2 | ? | |
| rs74836424 | 1e-300 | ANKRD11 | ? | |
| rs12203592 | 1e-300 | IRF4 | ? | |
| rs1126809 | 4e-280 | TYR | ? | |
| rs6059655 | 1e-269 | RALY | ? | |
| rs1805008 | 2e-225 | MC1R | ? | |
| rs11648089 | 1e-144 | CHMP1A | ? | |
| rs7403279 | 9e-55 | HERC2 | ? | |
| rs12350739 | 4e-53 | BNC2 - RN7SL720P | ? | |
| rs62052663 | 1e-51 | PRDM7 | ? | |
| rs3213737 | 3e-48 | HAL | ? | |
| rs1799802 | 7e-42 | ERCC4 | ? | |
| rs35561531 | 2e-38 | ACSF3 | ? | |
| rs4911414 | 6e-37 | RPS2P1 - ASIP; RPS2P1 - ASIP | G | 2.56 |
| rs113548871 | 1e-33 | FANCA | ? | |
| rs2737217 | 9e-33 | TRPS1 | ? | |
| rs3114910 | 3e-30 | ANKRD11 | ? | |
| rs251466 | 5e-30 | PPARGC1B | ? | |
| rs6007506 | 7e-27 | KIAA0930 | ? | |
| rs11198112 | 4e-26 | LINC02674 - RAB11FIP2 | ? | |
| rs117886461 | 7e-25 | OCA2 | ? | |
| rs111391498 | 8e-24 | UVSSA | ? | |
| rs117325217 | 8e-21 | HERC2 | ? | |
| rs1308048 | 2e-20 | PDE4B - SGIP1 | ? | |
| rs138804614 | 3e-20 | FANCA | ? | |
| rs117132860 | 3e-20 | AHR | ? | |
| rs1278766 | 1e-19 | ATP11A | ? | |
| rs1805007 | 2e-19 | MC1R | C | 1.66 |
| rs511515 | 7e-17 | BAK1 | ? | |
| rs150527451 | 8e-17 | TPCN2 | ? | |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|
| GCST90473948 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 392 | 458,048 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90026490 | Inoue Y | 2021 | 0 | 0 | Search for genetic loci involved in the constitution and skin type of a Japanese women using a genome-wide association study. |
| GCST007086 | Kichaev G | 2018 | 0 | 0 | Leveraging Polygenic Functional Enrichment to Improve GWAS Power. |
| GCST90029034 | Loh PR | 2018 | 0 | 0 | Mixed-model association for biobank-scale datasets. |
| GCST001933 | Zhang M | 2013 | 0 | 0 | Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. |
| GCST000196 | Sulem P | 2008 | 0 | 0 | Two newly identified genetic determinants of pigmentation in Europeans. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|
| Tier 1: coding | 7 |
| Tier 2: splice/UTR | 4 |
| Tier 3: regulatory | 2 |
| Tier 4: intronic/intergenic | 37 |
MAF distribution
| Bucket | Variants |
|---|
| common (>=0.05) | 46 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 4 |
Functional consequences
| Consequence | Count |
|---|
| intron_variant | 32 |
| missense_variant | 6 |
| intergenic_variant | 4 |
| 3_prime_UTR_variant | 3 |
| TF_binding_site_variant | 1 |
| intergenic_variant; intergenic_variant | 1 |
| regulatory_region_variant | 1 |
| splice_donor_5th_base_variant | 1 |
| stop_gained | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|
| rs16891982 | 5 | 33951588 | C>A,G | 0.05 | missense_variant | SLC45A2 | 3e-320 | Tier 1: coding |
| rs74836424 | 16 | 89440922 | C>A,T | 0.05 | intron_variant | ANKRD11 | 1e-300 | Tier 4: intronic/intergenic |
| rs12203592 | 6 | 396321 | C>G,T | 0.05 | intron_variant | IRF4 | 1e-300 | Tier 4: intronic/intergenic |
| rs1126809 | 11 | 89284793 | G>A | 0.05 | missense_variant | TYR | 4e-280 | Tier 1: coding |
| rs6059655 | 20 | 34077942 | A>G | 0.05 | intron_variant | RALY | 1e-269 | Tier 4: intronic/intergenic |
| rs1805008 | 16 | 89919736 | C>A,T | 0.05 | missense_variant | MC1R | 2e-225 | Tier 1: coding |
| rs11648089 | 16 | 89647530 | T>A,C,G | 0.05 | intron_variant | CHMP1A | 1e-144 | Tier 4: intronic/intergenic |
| rs7403279 | 15 | 28138419 | T>C | 0.05 | intron_variant | HERC2 | 9e-55 | Tier 4: intronic/intergenic |
| rs12350739 | 9 | 16885019 | G>A,C,T | 0.05 | TF_binding_site_variant | BNC2 - RN7SL720P | 4e-53 | Tier 3: regulatory |
| rs62052663 | 16 | 90086938 | G>A | 0.05 | intergenic_variant | PRDM7 | 1e-51 | Tier 4: intronic/intergenic |
| rs3213737 | 12 | 95986028 | G>A,C,T | 0.05 | intron_variant | HAL | 3e-48 | Tier 4: intronic/intergenic |
| rs1799802 | 16 | 13934224 | C>T | | missense_variant | ERCC4 | 7e-42 | Tier 1: coding |
| rs35561531 | 16 | 89118767 | C>T | 0.05 | intron_variant | ACSF3 | 2e-38 | Tier 4: intronic/intergenic |
| rs4911414 | 20;20 | 34141638 | T>A,G | 0.08 | intergenic_variant; intergenic_variant | RPS2P1 - ASIP; RPS2P1 - ASIP | 6e-37 | Tier 4: intronic/intergenic |
| rs113548871 | 16 | 89746174 | C>A,T | 0.05 | intron_variant | FANCA | 1e-33 | Tier 4: intronic/intergenic |
| rs2737217 | 8 | 115618084 | A>C,G,T | 0.05 | intron_variant | TRPS1 | 9e-33 | Tier 4: intronic/intergenic |
| rs3114910 | 16 | 89313019 | C>G | 0.05 | intron_variant | ANKRD11 | 3e-30 | Tier 4: intronic/intergenic |
| rs251466 | 5 | 149816040 | C>A,G | 0.05 | intron_variant | PPARGC1B | 5e-30 | Tier 4: intronic/intergenic |
| rs6007506 | 22 | 45226133 | C>A,T | 0.05 | intron_variant | KIAA0930 | 7e-27 | Tier 4: intronic/intergenic |
| rs11198112 | 10 | 117804632 | C>T | 0.05 | regulatory_region_variant | LINC02674 - RAB11FIP2 | 4e-26 | Tier 3: regulatory |
| rs117886461 | 15 | 27985232 | G>A,C | 0.05 | intron_variant | OCA2 | 7e-25 | Tier 4: intronic/intergenic |
| rs111391498 | 4 | 1347765 | A>G | 0.05 | splice_donor_5th_base_variant | UVSSA | 8e-24 | Tier 2: splice/UTR |
| rs117325217 | 15 | 28289631 | C>T | 0.05 | intron_variant | HERC2 | 8e-21 | Tier 4: intronic/intergenic |
| rs1308048 | 1 | 66422859 | T>C | 0.05 | intron_variant | PDE4B - SGIP1 | 2e-20 | Tier 4: intronic/intergenic |
| rs138804614 | 16 | 89806765 | A>G | | intron_variant | FANCA | 3e-20 | Tier 4: intronic/intergenic |
| rs117132860 | 7 | 17095084 | G>A,C,T | | intron_variant | AHR | 3e-20 | Tier 4: intronic/intergenic |
| rs1278766 | 13 | 112880068 | T>C,G | 0.05 | intron_variant | ATP11A | 1e-19 | Tier 4: intronic/intergenic |
| rs1805007 | 16 | 89919709 | C>A,G,T | 0.05 | missense_variant | MC1R | 2e-19 | Tier 1: coding |
| rs511515 | 6 | 33573730 | A>G,T | 0.05 | 3_prime_UTR_variant | BAK1 | 7e-17 | Tier 2: splice/UTR |
| rs150527451 | 11 | 69050429 | G>A | 0.05 | intron_variant | TPCN2 | 8e-17 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|
| TYR | Orphanet:352734 | Minimal pigment oculocutaneous albinism type 1 |
| TYR | Orphanet:352737 | Temperature-sensitive oculocutaneous albinism type 1 |
| TYR | Orphanet:79431 | Oculocutaneous albinism type 1A |
| TYR | Orphanet:79434 | Oculocutaneous albinism type 1B |
| TYR | Orphanet:895 | Waardenburg syndrome type 2 |
| IRF4 | Orphanet:3452 | Whipple disease |
| MC1R | Orphanet:618 | Familial melanoma |
| MC1R | Orphanet:79432 | Oculocutaneous albinism type 2 |
Cohort genes → proteins
5 cohort genes, 5 distinct canonical proteins.
Evidence partition
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|
| TYR | HGNC:12442 | ENSG00000077498 | P14679 | Tyrosinase | gwas |
| NTM | HGNC:17941 | ENSG00000182667 | Q9P121 | Neurotrimin | gwas |
| IRF4 | HGNC:6119 | ENSG00000137265 | Q15306 | Interferon regulatory factor 4 | gwas |
| MC1R | HGNC:6929 | ENSG00000258839 | Q01726 | Melanocyte-stimulating hormone receptor | gwas |
| ASIP | HGNC:745 | ENSG00000101440 | P42127 | Agouti-signaling protein | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|
| TYR | Tyrosinase | This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. |
| NTM | Neurotrimin | Neural cell adhesion molecule. |
| IRF4 | Interferon regulatory factor 4 | Transcriptional activator. |
| MC1R | Melanocyte-stimulating hormone receptor | G protein-coupled receptor that binds melanocyte-stimulating hormones (alpha, beta, and gamma-MSH) and adrenocorticotropic hormone/ACTH, which are peptide products of the POMC precursor protein. |
| ASIP | Agouti-signaling protein | Signaling protein that functions as an antagonist of melanocyte-stimulating-hormone receptor MC1R, thereby playing a role in the regulation of melanogenesis. |
Protein-family classification
Druggable: 3 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.6
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|
| Antibody/Immunoglobulin | 1 | 5.8× | 0.384 |
| GPCR | 1 | 4.8× | 0.384 |
| Enzyme (other) | 1 | 2.4× | 0.471 |
| Other/Unknown | 2 | 0.7× | 0.877 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|
| TYR | Enzyme (other) | yes | 1.14.18.1 | Tyrosinase_Cu-bd, Di-copper_centre_dom_sf, Tyrosinase/Hemocyanin |
| NTM | Antibody/Immunoglobulin | yes | | Ig_sub2, Ig_sub, Ig-like_dom |
| IRF4 | Other/Unknown | no | | Interferon_reg_fact_DNA-bd_dom, SMAD_FHA_dom_sf, SMAD-like_dom_sf |
| MC1R | GPCR | yes | | GPCR_Rhodpsn, MSH_rcpt, Melcrt_ACTH_rcpt |
| ASIP | Other/Unknown | no | | Agouti, Agouti_dom, Agouti_dom_sf |
Expression context
Cohort genes with no expression data: 0.
3 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 5 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| pigmented layer of retina | 1 |
| upper leg skin | 1 |
| cerebellar cortex | 1 |
| cerebellar hemisphere | 1 |
| right hemisphere of cerebellum | 1 |
| endocervix | 1 |
| lymph node | 1 |
| vermiform appendix | 1 |
| granulocyte | 1 |
| left testis | 1 |
| right uterine tube | 1 |
| apex of heart | 1 |
| left ovary | 1 |
| right ovary | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|
| TYR | 59 | tissue_specific | marker | pigmented layer of retina, male germ line stem cell (sensu Vertebrata) in testis, upper leg skin |
| NTM | 231 | ubiquitous | marker | right hemisphere of cerebellum, cerebellar cortex, cerebellar hemisphere |
| IRF4 | 180 | broad | marker | lymph node, endocervix, vermiform appendix |
| MC1R | 180 | broad | yes | granulocyte, right uterine tube, left testis |
| ASIP | 158 | tissue_specific | yes | apex of heart, left ovary, right ovary |
Protein interactions among cohort
Intra-cohort edges: 3.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|
| TYR | 3,663 |
| IRF4 | 3,450 |
| NTM | 1,777 |
| MC1R | 1,169 |
| ASIP | 473 |
Intra-cohort edges
| A | B | Sources |
|---|
| ASIP | MC1R | string_interaction |
| ASIP | TYR | string_interaction |
| MC1R | TYR | string_interaction |
Structural data
PDB: 5 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|
| IRF4 | Q15306 | 19 |
| MC1R | Q01726 | 5 |
| ASIP | P42127 | 4 |
| NTM | Q9P121 | 2 |
| TYR | P14679 | 1 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 27. Enrichment computed across 5 evidence-associated genes (4 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| Regulation of MITF-M-dependent genes involved in pigmentation | 2 | 132.8× | 0.002 | TYR, IRF4 |
| MITF-M-regulated melanocyte development | 2 | 57.1× | 0.006 | IRF4, MC1R |
| Melanin biosynthesis | 1 | 571.0× | 0.016 | TYR |
| Nuclear events stimulated by ALK signaling in cancer | 1 | 81.6× | 0.061 | IRF4 |
| Signaling by ALK in cancer | 1 | 68.0× | 0.061 | IRF4 |
| MITF-M-dependent gene expression | 1 | 45.3× | 0.061 | IRF4 |
| Transcriptional and post-translational regulation of MITF-M expression and activity | 1 | 44.6× | 0.061 | MC1R |
| Post-translational modification: synthesis of GPI-anchored proteins | 1 | 42.0× | 0.061 | NTM |
| Interferon alpha/beta signaling | 1 | 38.1× | 0.061 | IRF4 |
| Signaling by ALK fusions and activated point mutants | 1 | 37.6× | 0.061 | IRF4 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 1 | 36.6× | 0.061 | IRF4 |
| Developmental Biology | 2 | 7.2× | 0.061 | IRF4, MC1R |
| Interferon gamma signaling | 1 | 31.4× | 0.063 | IRF4 |
| Interferon Signaling | 1 | 30.1× | 0.063 | IRF4 |
| Interleukin-4 and Interleukin-13 signaling | 1 | 25.7× | 0.069 | IRF4 |
| Class A/1 (Rhodopsin-like receptors) | 1 | 18.5× | 0.080 | MC1R |
| Peptide ligand-binding receptors | 1 | 18.5× | 0.080 | MC1R |
| G alpha (s) signalling events | 1 | 18.3× | 0.080 | MC1R |
| Signaling by Interleukins | 1 | 16.0× | 0.082 | IRF4 |
| GPCR ligand binding | 1 | 16.0× | 0.082 | MC1R |
| Diseases of signal transduction by growth factor receptors and second messengers | 1 | 14.2× | 0.088 | IRF4 |
| GPCR downstream signalling | 1 | 10.9× | 0.108 | MC1R |
| Cytokine Signaling in Immune system | 1 | 10.2× | 0.108 | IRF4 |
| Signaling by GPCR | 1 | 10.0× | 0.108 | MC1R |
| Disease | 1 | 3.3× | 0.285 | IRF4 |
| Immune System | 1 | 3.2× | 0.285 | IRF4 |
| Signal Transduction | 1 | 2.5× | 0.339 | MC1R |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| melanin biosynthetic process | 3 | 777.8× | 2e-07 | TYR, MC1R, ASIP |
| positive regulation of melanin biosynthetic process | 2 | 561.7× | 1e-04 | MC1R, ASIP |
| pigmentation | 2 | 280.9× | 3e-04 | TYR, MC1R |
| eye pigment biosynthetic process | 1 | 1685.2× | 0.007 | TYR |
| melanin biosynthetic process from tyrosine | 1 | 842.6× | 0.009 | TYR |
| regulation of T-helper cell differentiation | 1 | 842.6× | 0.009 | IRF4 |
| neuron recognition | 1 | 674.1× | 0.009 | NTM |
| response to blue light | 1 | 674.1× | 0.009 | TYR |
| negative regulation of melanin biosynthetic process | 1 | 481.5× | 0.010 | ASIP |
| positive regulation of feeding behavior | 1 | 481.5× | 0.010 | MC1R |
| epigenetic programming in the zygotic pronuclei | 1 | 374.5× | 0.011 | ASIP |
| adult feeding behavior | 1 | 337.0× | 0.011 | ASIP |
| negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway | 1 | 337.0× | 0.011 | ASIP |
| T-helper 17 cell lineage commitment | 1 | 306.4× | 0.012 | IRF4 |
| UV-damage excision repair | 1 | 259.3× | 0.013 | MC1R |
| UV protection | 1 | 240.7× | 0.013 | MC1R |
| positive regulation of interleukin-13 production | 1 | 224.7× | 0.013 | IRF4 |
| positive regulation of cAMP/PKA signal transduction | 1 | 210.7× | 0.013 | MC1R |
| myeloid dendritic cell differentiation | 1 | 187.2× | 0.014 | IRF4 |
| negative regulation of toll-like receptor signaling pathway | 1 | 168.5× | 0.015 | IRF4 |
| response to vitamin D | 1 | 160.5× | 0.015 | TYR |
| melanosome transport | 1 | 153.2× | 0.015 | ASIP |
| melanosome organization | 1 | 129.6× | 0.017 | ASIP |
| defense response to protozoan | 1 | 120.4× | 0.017 | IRF4 |
| positive regulation of interleukin-4 production | 1 | 112.3× | 0.018 | IRF4 |
| response to cAMP | 1 | 102.1× | 0.019 | TYR |
| positive regulation of interleukin-2 production | 1 | 93.6× | 0.020 | IRF4 |
| hormone-mediated signaling pathway | 1 | 80.2× | 0.021 | ASIP |
| positive regulation of interleukin-10 production | 1 | 80.2× | 0.021 | IRF4 |
| immune system process | 1 | 78.4× | 0.021 | IRF4 |
Therapeutics
Drugs indicated for this disease
10 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bemotrizinol, Chlorpheniramine, Ibuprofen, Petrolatum, Sodium Chloride.
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 3
Druggability breadth: 3 of 5 evidence-associated genes (60%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|
| TYR | ASCORBIC ACID |
| MC1R | BREMELANOTIDE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|
| TYR | 10 | 4 |
| MC1R | 6 | 4 |
| NTM | 0 | 0 |
| IRF4 | 0 | 0 |
| ASIP | 0 | 0 |
Drugs targeting cohort genes (top 30)
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|
| MC1R | 319 | Functional:164, Binding:155 |
| TYR | 211 | Binding:209, ADMET:2 |
| IRF4 | 3 | Binding:3 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|
| TYR | 1.14.18.1 | tyrosinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|
| TYR | 211 |
| MC1R | 319 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
16 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
| Compound | Max phase | Cohort target (bioactivity) |
|---|
| ASCORBIC ACID | 4 | TYR |
| HEXYLRESORCINOL | 4 | TYR |
| HYDROQUINONE | 4 | TYR |
| BREMELANOTIDE | 4 | MC1R |
| SETMELANOTIDE | 4 | MC1R |
| AFAMELANOTIDE | 4 | MC1R |
| CURCUMIN | 3 | TYR |
| RESVERATROL | 3 | TYR |
| QUERCETIN | 3 | TYR |
| BUTYLATED HYDROXYTOLUENE | 2 | TYR |
| LUTEOLIN | 2 | TYR |
| ARBUTIN | 2 | TYR |
| INTERMEDINE | 2 | MC1R |
| PL-8177 | 2 | MC1R |
| KAEMPFEROL | 1 | TYR |
| DERSIMELAGON PHOSPHATE | 1 | MC1R |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|
| A | Approved (phase 4 drug) | 2 | TYR, MC1R |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | NTM |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 2 | IRF4, ASIP |
Undrugged target profiles
3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|
| ASIP | 0 | MC1R |
| NTM | 0 | — |
| IRF4 | 3 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 17.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|
| Not specified | 8 |
| PHASE3 | 4 |
| PHASE2 | 3 |
| PHASE4 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|
| NCT01021787 | PHASE4 | COMPLETED | Dermal Penetration of the Titanium Dioxide in Anthelios SX SPF40 Cream |
| NCT00326274 | PHASE3 | COMPLETED | Clinical Safety Trial of Long-Term Intermittent Use of Helioblock® SX Cream |
| NCT00441051 | PHASE3 | COMPLETED | Efficacy and Safety of Diclofenac Sodium (0.1%) Gel in Patients With UV Induced Painful Sunburn |
| NCT01085851 | PHASE3 | UNKNOWN | Non-inferiority Clinical Trial of Dexchlorpheniramine (Cream Versus Lotion) in the Relief of Sunburn Related Symptoms |
| NCT01237925 | PHASE3 | UNKNOWN | Non-inferiority Clinical Trial of Dexchlorpheniramine (Cream Versus Gel) in the Relief of Sunburn Related Symptoms |
| NCT03332524 | PHASE2 | TERMINATED | Clinical Trial of the Safety and Efficacy of SP160412 in the Temporary Relief of Mild to Moderate Sunburn |
| NCT05260359 | PHASE2 | COMPLETED | Dermal Irritation, Sensitization and Cumulative Irritation Potential of 6% Bemotrizinol |
| NCT06651476 | PHASE2 | COMPLETED | A Randomized Controlled Trial to Test the Effects Oxytocin and Vibration Have on Heat Pain Threshold After UV-B Burn |
| NCT01873430 | PHASE1 | COMPLETED | The Sun Protective Effect of Melatonin |
| NCT03007589 | Not specified | ENROLLING_BY_INVITATION | Natural Sunlight Protection and Simulated Sunlight Protection Offered by Sunscreens and Fabrics |
| NCT06720402 | Not specified | ACTIVE_NOT_RECRUITING | Pediatricians and Family Physicians Knowledge and Awareness on Sun Protection |
| NCT00206882 | Not specified | UNKNOWN | The Sun Protection Effect and Efficacy in Treatment of Sunburn Using Topical Corticosteroids. |
| NCT03199573 | Not specified | COMPLETED | Hats on Head Start: A A Survey of Sun Protection Behaviors in Head Start and Other Early Childhood Education Programs |
| NCT03489356 | Not specified | COMPLETED | Project Options - The ABC Method |
| NCT03607578 | Not specified | COMPLETED | Test of Interventions to Prevent Skin Cancer Among Danes on Vacation in High UV Index Sunny Destinations |
| NCT03752736 | Not specified | COMPLETED | Sun Safety Skills for Elementary School Students |
| NCT05767008 | Not specified | COMPLETED | Water Immersion Studies of a Long-wear Sunscreen to Improve Protection Against Ultraviolet Radiation |
Drugs tested across these trials (top 30)