| 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 |