User:ProteinBoxBot/Gene-Disease link examples unifying examples
Unifying examples for gene-disease-drug links edit
Color Key
- Drugs
- Genes/proteins
- Diseases
Malarone interacts_with dihydrofolate reductase Malarone interacts_with cytochrome bc1 complex Malarone has_part proguanil Malarone has_part atovaquone proguanil inhibits catalyzation of tetrahydrofolate proguanil inhibits bifunctional dihydrofolate reductase-thymidylate synthase of Plasmodium falciparum atovaquone inhibits mitochondrial electron transport chain of Plasmodium falciparum atovaquone inhibits cytochrome bc1 complex of Plasmodium falciparum
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) located_in CFTR NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) cause_of Cystic fibrosis Cystic fibrosis treated_with azithromycin azithromycin interacts_with 50S ribosomal subunit azithromycin inhibits peptidyl transferase activity
Melanoma and Colorectal cancer:
NM_004333.4(BRAF):c.1799T>A (p.Val600Glu) located_in BRAF NM_004333.4(BRAF):c.1799T>A (p.Val600Glu) cause_of melanoma melanoma treated_by vemurafenib vemurafenib inhibits BRAF mutated_at V600E
Amyotrophic lateral sclerosis:
NM_000454.4(SOD1):c.281G>C (p.Gly94Ala) located_in SOD1 NM_000454.4(SOD1):c.281G>C (p.Gly94Ala) cause_of ALS1 ALS1 treated_with Riluzole Riluzole interacts_with tetrodoxin-sensitive sodium channels Riluzole interacts_with tetrodoxin-resistant sodium channels Riluzole inhibits sodium channel activity
Familial hypercholesterolaemia:
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) located_in APOB NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) cause_of familial hypercholesterolemia familial hypercholesterolemia treated_with atorvastatin atorvastatin inhibits HMG-CoA reductase