Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | |
Human | UBR1 | 197131 | ubiquitin protein ligase E3 component n-recognin 1 | |
Human | KIF1B | 23095 | kinesin family member 1B | |
Human | VHL | 7428 | von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | |
Human | TSC2 | 7249 | tuberous sclerosis 2 | |
Human | TSC1 | 7248 | tuberous sclerosis 1 | |
Human | SDHD | 6392 | succinate dehydrogenase complex, subunit D, integral membrane protein | |
Human | SDHB | 6390 | succinate dehydrogenase complex, subunit B, iron sulfur (Ip) | |
Human | RET | 5979 | ret proto-oncogene | |
Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | Some PTPN11 mutations (e.g., Y279C) are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or cafe au lait spots (LEOPARD syndrome) |
Human | PTEN | 5728 | phosphatase and tensin homolog | |
Human | PMS2 | 5395 | PMS2 postmeiotic segregation increased 2 (S. cerevisiae) | |
Human | NF1 | 4763 | neurofibromin 1 | There is a statistically significant difference in the frequency of second hit NF1 mutations in cafe au lait spots (CALM) melanocytes compared with CALM fibroblasts, and with CALM keratinocytes Cafe-au-lait spots may or may not be present |
Human | NBN | 4683 | nibrin | |
Human | MSH2 | 4436 | mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) | |
Human | MLH1 | 4292 | mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) | |
Human | IFNG | 3458 | interferon, gamma | |
Human | MSH6 | 2956 | mutS homolog 6 (E. coli) | |
Human | GNAS | 2778 | GNAS complex locus | Large cafe au lait spots within irregular margins |
Human | GDNF | 2668 | glial cell derived neurotrophic factor | |
Human | FANCA | 2175 | Fanconi anemia, complementation group A | |
Human | EP300 | 2033 | E1A binding protein p300 | |
Human | CREBBP | 1387 | CREB binding protein | |
Human | BLM | 641 | Bloom syndrome, RecQ helicase-like | |
Human | ATM | 472 | ataxia telangiectasia mutated | |