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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00039 | Basal cell carcinoma | Cancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare familial ... | Cancer | hsa05217 Basal cell carcinoma |
(BCC1) SMO [HSA:6608] [KO:K06226] (BCC1) PTCH1 [HSA:5727] [KO:K06225] (BCC1) PTCH2 [HSA:8643] [KO:K11101] (BCC1) RASA1 [HSA:5921] [KO:K04352] (BCC7) TP53 [HSA:7157] [KO:K04451] |
| H00532 | Parkes Weber syndrome | ... vascular stain with multiple underlying subcutaneous and intramuscular arteriovenous fistulas (AVF), and overgrowth of the affected extremity. It has been reported that PWS is caused by RASA1 mutations. | Congenital malformation | RASA1 [HSA:5921] [KO:K04352] | |
| H02043 | Capillary malformation-arteriovenous malformation | ... malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association with AVMs or fistulas (AVF) ... | Congenital malformation |
(CMAVM1) RASA1 [HSA:5921] [KO:K04352] (CMAVM2) EPHB4 [HSA:2050] [KO:K05113] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |