STANDARD_NAME	KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG
SYSTEMATIC_NAME	M18312
COLLECTION	C2:CP:KEGG_LEGACY
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/KEGG_MATURITY_ONSET_DIABETES_OF_THE_YOUNG
NAMESPACE	Human_NCBI_Gene_ID
DESCRIPTION_BRIEF	Maturity onset diabetes of the young
DESCRIPTION_FULL	About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY). We now know that MODY is caused by heterozygous mutations in at least five genes encoding transcription factors: HNF4alpha (MODY1), HNF1alpha (MODY3), PDX1 (MODY4), HNF1beta (MODY5) and NEUROD1 (MODY6). MODY2, which is so far the only subtype not related to a transcription factor, is caused by mutations in the glucokinase gene. Mutations of MODY transcription factor genes lead to abnormal expression of genes involved in pancreatic islet development and metabolism.
PMID	
GEOID	
AUTHORS	
CONTRIBUTOR	KEGG
CONTRIBUTOR_ORG	Kyoto Encyclopedia of Genes and Genomes
EXACT_SOURCE	hsa04950
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	http://www.genome.jp/pathway/hsa04950
SOURCE_MEMBERS	168620,2494,2645,3087,3110,3170,3171,3172,3174,3175,3280,3375,3630,3651,389692,4760,4821,4825,50674,5078,5080,5313,6514,6927,6928
GENE_SYMBOLS	BHLHA15,NR5A2,GCK,HHEX,MNX1,FOXA2,FOXA3,HNF4A,HNF4G,ONECUT1,HES1,IAPP,INS,PDX1,MAFA,NEUROD1,NKX2-2,NKX6-1,NEUROG3,PAX4,PAX6,PKLR,SLC2A2,HNF1A,HNF1B
FOUNDER_NAMES