Shwachman-diamond syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SHWACHMAN SYNDROME	C0272170	EFL1	Causal	—	Disgenet	Ribosome biogenesis in eukaryotes
		SBDS	Causal	—	ClinVar, Disgenet	Ribosome biogenesis in eukaryotes
		DNAJC21	Unknown	—	ClinVar, Disgenet	—
		EIF6	Unknown	—	Disgenet	Ribosome biogenesis in eukaryotes
		SRP54	Unknown	—	ClinVar, Disgenet	Protein export SRP-dependent cotranslational protein targeting to membrane
SHWACHMAN-DIAMOND SYNDROME	811 MESH:D000081003 MONDO:0009833	DNAJC21	Unknown	28062395	CTD, GWAS catalog, Orphanet	—
		EFL1	Unknown	28331068	Disgenet, Orphanet	Ribosome biogenesis in eukaryotes
		EIF6	Unknown	32657013	GenCC	Ribosome biogenesis in eukaryotes
		SBDS	Unknown	12496757 14749921 15284109 15769891 17475909 20301722 22510201 23115272 23602541	CTD, ClinGen, Disgenet, Orphanet	Ribosome biogenesis in eukaryotes
		SRP54	Unknown	28972538	CTD, Disgenet	Protein export SRP-dependent cotranslational protein targeting to membrane
		SRPRA	Unknown	36223592	GWAS catalog	Protein export XBP1(S) activates chaperone genes
SHWACHMAN-DIAMOND SYNDROME 1	260400 C4692625 MONDO:0044204	DNAJC21	Causal	—	ClinVar, Disgenet, HPO	—
		SBDS	Causal	12496757 32412173 36577524	ClinVar, Disgenet, GenCC, HPO, ClinGen	Ribosome biogenesis in eukaryotes
		SRP19	Causal	—	Disgenet	Protein export SRP-dependent cotranslational protein targeting to membrane
		SRP54	Causal	—	ClinVar, Disgenet, HPO	Protein export SRP-dependent cotranslational protein targeting to membrane
		SRPRA	Causal	—	Disgenet	Protein export XBP1(S) activates chaperone genes
SHWACHMAN-DIAMOND SYNDROME 2	617941 C4693704 MONDO:0044205	EFL1	Causal	28331068 29970384 31151987	ClinVar, Disgenet, GenCC, HPO, ClinGen	Ribosome biogenesis in eukaryotes