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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00409 | Type 2 diabetes mellitus | Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... | Endocrine and metabolic disease | hsa04930 Type II diabetes mellitus |
IGF2BP2 [HSA:10644] [KO:K17392] CAPN10 [HSA:11132] [KO:K08579] SLC30A8 [HSA:169026] [KO:K14695] KCNJ11 [HSA:3767] [KO:K05004] MTNR1B [HSA:4544] [KO:K04286] ENPP1 [HSA:5167] [KO:K01513] PPARG [HSA:5468] [KO:K08530] HNF1B [HSA:6928] [KO:K08034] TCF7L2 [HSA:6934] [KO:K04491] WFS1 [HSA:7466] [KO:K14020] |
H00410 | Maturity onset diabetes of the young (MODY) | Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years ... | Endocrine and metabolic disease | hsa04950 Maturity onset diabetes of the young |
(MODY1) HNF4A [HSA:3172] [KO:K07292] (MODY2) GCK [HSA:2645] [KO:K12407] (MODY3) HNF1A [HSA:6927] [KO:K08036] (MODY4) PDX1 [HSA:3651] [KO:K07594] (MODY5) HNF1B [HSA:6928] [KO:K08034] (MODY6) NEUROD1 [HSA:4760] [KO:K08033] (MODY7) KLF11 [HSA:8462] [KO:K09209] (MODY8) CEL [HSA:1056] [KO:K12298] (MODY9) PAX4 [HSA:5078] [KO:K08032] (MODY10) INS [HSA:3630] [KO:K04526] (MODY11) BLK [HSA:640] [KO:K08890] (MODY13) KCNJ11 [HSA:3767] [KO:K05004] (MODY14) APPL1 [HSA:26060] [KO:K08733] |
H00541 | Autosomal dominant tubulointerstitial kidney disease | ... kidney transplantation. The clinical manifestations of typical ADTKD appear to be confined to the kidney, whereas atypical type caused by mutations in HNF1B results in variable extrarenal manifestations. | Urinary system disease |
(ADTKD1) UMOD [HSA:7369] [KO:K18274] (ADTKD2) MUC1 [HSA:4582] [KO:K06568] (ADTKD3) HNF1B [HSA:6928] [KO:K08034] (ADTKD4) REN [HSA:5972] [KO:K01380] (ADTKD5) SEC61A1 [HSA:29927] [KO:K10956] |
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