Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DIABETES MELLITUS, PERMANENT NEONATAL	C1833104 MESH:C563425	ABCC8	Unknown	—	Disgenet
		GATA4	Unknown	—	Disgenet
		GCK	Unknown	—	CTD Disgenet
		HNF1B	Unknown	—	Disgenet
		INS	Unknown	—	Disgenet
		INS-IGF2	Unknown	—	Disgenet
		KCNJ11	Unknown	—	Disgenet
		MNX1	Unknown	—	Disgenet
		NEUROG3	Unknown	—	Disgenet
		PDX1	Unknown	—	Disgenet
		PTF1A	Unknown	—	Disgenet
		SLC2A2	Unknown	—	Disgenet
		STAT3	Unknown	—	Disgenet
DIABETES MELLITUS, PERMANENT NEONATAL 2	MONDO:0030087	KCNJ11	Causal	—	ClinVar GenCC
DIABETES MELLITUS, PERMANENT NEONATAL 3	MONDO:0030088	ABCC8	Causal	—	ClinVar GenCC
DIABETES MELLITUS, PERMANENT NEONATAL 4	MONDO:0030089	INS	Causal	—	ClinVar GenCC
DIABETES MELLITUS, PERMANENT NEONATAL, 1	C5393570 606176	ABCC8	Unknown	—	Disgenet
		GCK	Unknown	—	Disgenet HPO
		INS	Unknown	—	Disgenet
		KCNJ11	Unknown	—	Disgenet
DIABETES MELLITUS, PERMANENT NEONATAL, 2	618856 C5394296	KCNJ11	Unknown	—	Disgenet HPO
DIABETES MELLITUS, PERMANENT NEONATAL, 3	618857 C5394303	ABCC8	Unknown	—	Disgenet HPO
DIABETES MELLITUS, PERMANENT NEONATAL, 4	618858 C5394307	INS	Unknown	—	Disgenet HPO
DIABETES MELLITUS, PERMANENT NEONATAL, 4	618858 C5394307	INS-IGF2	Unknown	—	Disgenet
DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS	MESH:C563796	PTF1A	Unknown	15543146 19650412	CTD
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
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

Permanent neonatal diabetes mellitus