Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DIARRHEA 4, MALABSORPTIVE, CONGENITAL, WITH DIABETES MELLITUS AND COMBINED PITUITARY HORMONE DEFICIENCY	610370	NEUROG3	Unknown	—	HPO
INSULINOMATOSIS AND DIABETES MELLITUS	147630	MAFA	Unknown	—	HPO
ISOLATED PERMANENT NEONATAL DIABETES MELLITUS	99885	ABCC8	Unknown	20301620 21844708 22498247	Orphanet
		GCK	Unknown	20301620 21844708 22498247	Orphanet
		INS	Unknown	20301620 21844708 22498247 23107109 23245869	Orphanet
		KCNJ11	Unknown	20301620 21844708 22498247 24150202 24468099	Orphanet
		PDX1	Unknown	20301620 22498247	Orphanet
		STAT3	Unknown	28073828	Orphanet
NEONATAL DIABETES MELLITUS	C0158981 MONDO:0016391	ABCC8	Causal	—	Disgenet
		INS	Causal	—	Disgenet
		KCNJ11	Causal	—	Disgenet
		AGPAT2	Unknown	—	Disgenet GenCC
		BSCL2	Unknown	—	Disgenet GenCC
		CD274	Unknown	—	Disgenet GenCC
		GATA4	Unknown	—	Disgenet GenCC
		GATA6	Unknown	—	Disgenet GenCC
		GCK	Unknown	—	Disgenet
		IL2RA	Unknown	—	Disgenet GenCC
		INS-IGF2	Unknown	—	Disgenet
		MNX1	Unknown	—	Disgenet GenCC
		NKX2-2	Unknown	—	Disgenet GenCC
		ONECUT1	Unknown	34663987 37639628 37941991	CTD Disgenet
		PDX1	Unknown	—	Disgenet
		SLC2A2	Unknown	—	Disgenet GenCC
		TMEM167A	Unknown	—	Disgenet GenCC
NEONATAL DIABETES MELLITUS WITH CONGENITAL HYPOTHYROIDISM	MONDO:0012436	GLIS3	Causal	12966531	ClinVar GenCC
NEONATAL DIABETES MELLITUS WITH CONGENITAL HYPOTHYROIDISM	MONDO:0012436	IL2RA	Unknown	—	GenCC
NEONATAL DIABETES, CONGENITAL HYPOTHYROIDISM, CONGENITAL GLAUCOMA, HEPATIC FIBROSIS, POLYCYSTIC KIDNEY SYNDROME	C4510367	GLIS3	Unknown	—	Disgenet
NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME	79118	GLIS3	Unknown	16715098	Orphanet
OTHER SPECIFIED DIABETES MELLITUS WITH UNSPECIFIED COMPLICATIONS	C0348932	WFS1	Unknown	—	Disgenet
PANCREATIC BETA CELL AGENESIS WITH NEONATAL DIABETES MELLITUS	C1838655	PTF1A	Unknown	—	Disgenet
PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME	2255 MONDO:0010802	GATA6	Causal	22158542 8071961 22962692	ClinVar Orphanet
	2255 MONDO:0010802	GATA4	Unknown	—	GenCC
PERMANENT NEONATAL DIABETES MELLITUS	MONDO:0011643 MONDO:0100164	ABCC8	Causal	—	ClinVar GenCC
		GCK	Causal	21844708 22498247 20301620	ClinVar Disgenet
		INS	Causal	—	ClinVar GenCC
		KCNJ11	Causal	21844708 22498247 20301620 24150202 24468099	ClinVar
		PDX1	Causal	—	ClinVar GenCC
		GATA4	Unknown	—	GenCC
		HNF1B	Unknown	—	GenCC
		MNX1	Unknown	—	GenCC
		NEUROG3	Unknown	—	GenCC
		PTF1A	Unknown	—	GenCC
		SLC2A2	Unknown	—	GenCC
		STAT3	Unknown	28073828	ClinVar
PERMANENT NEONATAL DIABETES MELLITUS 1	MONDO:0100165	GCK	Causal	—	ClinVar GenCC
PERMANENT NEONATAL DIABETES MELLITUS-PANCREATIC AND CEREBELLAR AGENESIS SYNDROME	65288 MONDO:0012192	PTF1A	Causal	15543146 20301317 21749365 10507728	CTD ClinVar Orphanet
	65288 MONDO:0012192	NEUROD1	Unknown	—	GenCC
PRIMARY MICROCEPHALY, EPILEPSY, PERMANENT NEONATAL DIABETES SYNDROME	C5190632	IER3IP1	Unknown	—	Disgenet
	C5190632	YIPF5	Unknown	—	Disgenet

Neonatal diabetes mellitus