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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00038 | Melanoma | ... kinases 4 and 6/retinoblastoma protein (p16INK4a/CDK4,6/pRb) and p14ARF/human double minute 2/p53 (p14ARF/HMD2/p53) tumor suppressor pathways. MITF and TP53 are implicated in further melanoma progression. | Cancer | hsa05218 Melanoma |
(CMM2) CDKN2A [HSA:1029] [KO:K06621] (CMM3) CDK4 [HSA:1019] [KO:K02089] (CMM5) MC1R [HSA:4157] [KO:K04199] (CMM6) XRCC3 [HSA:7517] [KO:K10880] (CMM8) MITF (amplification) [HSA:4286] [KO:K09455] (CMM9) TERT [HSA:7015] [KO:K11126] (CMM10) POT1 [HSA:25913] [KO:K11109] BRAF [HSA:673] [KO:K04365] STK11 [HSA:6794] [KO:K07298] NRAS [HSA:4893] [KO:K07828] PTEN [HSA:5728] [KO:K01110] TP53 [HSA:7157] [KO:K04451] |
| H00169 |
Ocular albinism Ocular albinism type I (OA1) Waardenburg syndrome type II (WS2-OA) |
Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type ... | Inherited metabolic disorder |
(OA1) GPR143 [HSA:4935] [KO:K08470] (WS2A) MITF [HSA:4286] [KO:K09455] |
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| H00759 | Waardenburg syndrome | ... musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, MITF, SNAI2, SOX10, EDNRB, and EDN3. | Inherited metabolic disorder |
(WS1/3) PAX3 [HSA:5077] [KO:K09381] (WS2A) MITF [HSA:4286] [KO:K09455] (WS2E/4C) SOX10 [HSA:6663] [KO:K09270] (WS2F) KITLG [HSA:4254] [KO:K05461] (WS4A) EDNRB [HSA:1910] [KO:K04198] (WS4B) EDN3 [HSA:1908] [KO:K05227] |
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| H01187 |
Tietz syndrome Albinism-deafness syndrome |
... syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene. Mutations in other regions of this gene have ... | Skin disease | MITF [HSA:4286] [KO:K09455] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |