Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION	MONDO:0100210	STAT5B	Unknown	13679528 15827093 16418296 16787985 16920911 17389811 20538865 29844444 9630227	Disgenet
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE	C5435698 245590	ERCC6L2	Unknown	—	Disgenet
	C5435698 245590	STAT5B	Unknown	—	Disgenet HPO
GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT	618985 C5436546 MONDO:0100219	STAT5B	Causal	29844444	CTD ClinVar Disgenet HPO
GROWTH HORMONE INSENSITIVITY WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE	MONDO:0100211	STAT5B	Causal	13679528	ClinVar Disgenet

Growth hormone insensitivity syndrome with immune dysregulation