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Entry Name Description Category Pathway Gene
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 ... Metabolic disease; Endocrine disease hsa04930 Type II diabetes mellitus
hsa04910 Insulin signaling pathway
(MODY1) HNF4A [HSA:3172] [KO:K07292]
(MODY2) GCK [HSA:2645] [KO:K12407]
(MODY3) TCF1 [HSA:6927] [KO:K08036]
(MODY4) PDX1 [HSA:3651] [KO:K07594]
(MODY5) TCF2 [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]
H02003 Pyruvate dehydrogenase E3-binding protein deficiency
Lacticacidemia due to PDX1 deficiency
Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. E3 binding protein (E3BP, formerly Protein X) mediates association ... Inherited metabolic disease PDHX [HSA:8050] [KO:K13997]
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