Human | PORCN | 64840 | porcupine homolog (Drosophila) | Linear or reticular hyperpigmentation |
Human | XYLT2 | 64132 | xylosyltransferase II | Peau d'orange retinal changes (yellow-mottled retinal hyperpigmentation) |
Human | XYLT1 | 64131 | xylosyltransferase I | Peau d'orange retinal changes (yellow-mottled retinal hyperpigmentation) |
Human | MRAP | 56246 | melanocortin 2 receptor accessory protein | |
Human | NOP10 | 55505 | NOP10 ribonucleoprotein | |
Human | GJB6 | 10804 | gap junction protein, beta 6, 30kDa | Hyperpigmentation (knuckles, elbows, axillae, areolae, pubic area) |
Human | SEC23A | 10484 | Sec23 homolog A (S. cerevisiae) | Hyperpigmentation (forehead) |
Human | TP63 | 8626 | tumor protein p63 | |
Human | AAAS | 8086 | achalasia, adrenocortical insufficiency, alacrimia | |
Human | BEST1 | 7439 | bestrophin 1 | |
Human | UROS | 7390 | uroporphyrinogen III synthase | |
Human | SOX10 | 6663 | SRY (sex determining region Y)-box 10 | Patchy hypo- and hyperpigmentation |
Human | PTEN | 5728 | phosphatase and tensin homolog | Depigmentation/hyperpigmentation |
Human | MMP2 | 4313 | matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) | |
Human | KITLG | 4254 | KIT ligand | Stem cell factor is an important cytokine in neurofibromatosis type 1 skin, but that additional (growth) factors and/or genetic mechanisms are needed to induce NF1-specific CALM hyperpigmentation the accentuated expression of SCF in lesional skin plays an important role in the mechanism involved in the epidermal hyperpigmentation of lentigo senilis |
Human | MC2R | 4158 | melanocortin 2 receptor (adrenocorticotropic hormone) | |
Human | KRT5 | 3852 | keratin 5 | Reticulate acropigmentation of Kitamura - hyperpigmentation found primarily in hands and feet |
Human | KIT | 3815 | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Title:Familial gastrointestinal stromal tumor with hyperpigmentation: association with a germline mutation of the c-kit gene.|Association:Not Found|Conclusion:Not Found |
Human | GSS | 2937 | glutathione synthetase | glutathione synthetase autosomal mutations result in glutathione synthetase deficiency, which may cause progressive retinal dystrophy with hyperpigmentations and maculopathy [case report] |
Human | GBA | 2629 | glucosidase, beta, acid | |
Human | FANCA | 2175 | Fanconi anemia, complementation group A | |
Human | EDN1 | 1906 | endothelin 1 | enhanced ET-1 expression in pigmented basal cell carcinoma plays an important role in the hyperpigmentation of this tumor |
Human | CYP11B1 | 1584 | cytochrome P450, family 11, subfamily B, polypeptide 1 | Hyperpigmentation associated with increased adrenocorticotropic hormone (ACTH) |
Human | BMP2 | 650 | bone morphogenetic protein 2 | |
Human | ABCC6 | 368 | ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | Peau d'orange retinal changes (yellow-mottled retinal hyperpigmentation) |