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 | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia |
Human | BSCL2 | 26580 | Berardinelli-Seip congenital lipodystrophy 2 (seipin) | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | TINF2 | 26277 | TERF1 (TRF1)-interacting nuclear factor 2 | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia |
Human | GJB6 | 10804 | gap junction protein, beta 6, 30kDa | Hyperpigmentation (knuckles, elbows, axillae, areolae, pubic area) |
Human | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | SEC23A | 10484 | Sec23 homolog A (S. cerevisiae) | Hyperpigmentation (forehead) |
Human | TP63 | 8626 | tumor protein p63 | |
Human | AAAS | 8086 | achalasia, adrenocortical insufficiency, alacrimia | |
Human | ALMS1 | 7840 | Alstrom syndrome 1 | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | BEST1 | 7439 | bestrophin 1 | |
Human | UROS | 7390 | uroporphyrinogen III synthase | |
Human | TYR | 7299 | tyrosinase | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | TSC2 | 7249 | tuberous sclerosis 2 | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | TERT | 7015 | telomerase reverse transcriptase | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia |
Human | TERC | 7012 | telomerase RNA component | Classic triad consists of nail dystrophy, skin hyperpigmentation, and mucosal leukoplakia |
Human | STK11 | 6794 | serine/threonine kinase 11 | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | SOX10 | 6663 | SRY (sex determining region Y)-box 10 | Patchy hypo- and hyperpigmentation |
Human | RAF1 | 5894 | v-raf-1 murine leukemia viral oncogene homolog 1 | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | INFERRED, Score=800, UMLKSK CUI: C0162834 |
Human | PTEN | 5728 | phosphatase and tensin homolog | Depigmentation/hyperpigmentation |
Human | PRKAR1A | 5573 | protein kinase, cAMP-dependent, regulatory, type I, alpha | INFERRED, Score=800, UMLKSK CUI: C0162834 |