Pulmonary surfactant metabolism dysfunction | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SURFACTANT DYSFUNCTION	C3711368	ABCA3	Unknown	—	Disgenet	ABC transporters ABC transporters in lipid homeostasis Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) +2 more
		CSF2RA	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Hematopoietic cell lineage +7 more
		CSF2RB	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Apoptosis JAK-STAT signaling pathway +7 more
		SFTPB	Unknown	—	Disgenet	Surfactant metabolism Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) +1 more
		SFTPC	Unknown	—	Disgenet	Surfactant metabolism Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) +1 more
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 15331184	CTD, ClinGen, ClinVar, Disgenet, HPO	Surfactant metabolism Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) +1 more
		ABCA3	Unknown	—	Disgenet	ABC transporters ABC transporters in lipid homeostasis Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) +2 more
		SFTPC	Unknown	—	Disgenet	Surfactant metabolism Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) +1 more
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	610913 C1970470 MESH:C567048 MONDO:0024465	SFTPC	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Surfactant metabolism Defective pro-SFTPC causes pulmonary surfactant metabolism dysfunction 2 (SMDP2) and respiratory distress syndrome (RDS) Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) +1 more
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2	610913 C1970470 MESH:C567048 MONDO:0024465	BMP1	Unknown	—	Disgenet	Degradation of the extracellular matrix Collagen biosynthesis and modifying enzymes Anchoring fibril formation +2 more
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3	610921 C1970456 MESH:C567046	ABCA3	Unknown	—	CTD, Disgenet, HPO	ABC transporters ABC transporters in lipid homeostasis Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3) +2 more
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4	300770 C2677877 MESH:C567461 MONDO:0010424	CSF2RA	Causal	20622029 24279725 25425184 26484569 35043685 18955570	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Hematopoietic cell lineage +7 more
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	Cytokine-cytokine receptor interaction Apoptosis JAK-STAT signaling pathway +7 more