Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SURFACTANT DYSFUNCTION	C3711368	ABCA3	Unknown	—	Disgenet
		CSF2RA	Unknown	—	Disgenet
		CSF2RB	Unknown	—	Disgenet
		SFTPB	Unknown	—	Disgenet
		SFTPC	Unknown	—	Disgenet
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1	265120 C1968602 MESH:C566882 MONDO:0009929	SFTPB	Causal	10365365 10960490 12639841 15722377 24309898 26199800 28888561 31357031 33426150 35438610 37380697 37455866 8163685	CTD ClinGen ClinVar Disgenet HPO
		ABCA3	Unknown	—	Disgenet
		SFTPC	Unknown	—	Disgenet
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	610913 C1970470 MESH:C567048 MONDO:0024465	SFTPC	Causal	—	CTD ClinVar Disgenet GenCC HPO
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	610913 C1970470 MESH:C567048 MONDO:0024465	BMP1	Unknown	—	Disgenet
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	610921 C1970456 MESH:C567046	ABCA3	Unknown	—	CTD Disgenet HPO
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	300770 C2677877 MESH:C567461 MONDO:0010424	CSF2RA	Causal	20622029 24279725 25425184 26484569 35043685	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5	614370 C3280574 MONDO:0013712 OMIM:614370	CSF2RB	Causal	21075760 21205713 25274301 38111540 38259275 9410898	CTD ClinGen ClinVar Disgenet GWAS catalog HPO

Pulmonary surfactant metabolism dysfunction