Proximal spinal muscular atrophy | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
PROXIMAL SPINAL MUSCULAR ATROPHY	C4024957	FBLN5	Unknown	—	Disgenet	Elastic fibre formation Molecules associated with elastic fibres
PROXIMAL SPINAL MUSCULAR ATROPHY	C4024957	SETX	Unknown	—	Disgenet	Amyotrophic lateral sclerosis
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1	83330	NAIP	Unknown	11912351	Orphanet	NOD-like receptor signaling pathway Pathogenic Escherichia coli infection Shigellosis +2 more
		SMN1	Unknown	20301526	Orphanet	snRNP Assembly
		SMN2	Unknown	20301526	Orphanet	snRNP Assembly
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 2	83418	NAIP	Unknown	11912351	Orphanet	NOD-like receptor signaling pathway Pathogenic Escherichia coli infection Shigellosis +2 more
		SMN1	Unknown	20301526	Orphanet	snRNP Assembly
		SMN2	Unknown	20301526	Orphanet	snRNP Assembly
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 3	83419	NAIP	Unknown	11912351	Orphanet	NOD-like receptor signaling pathway Pathogenic Escherichia coli infection Shigellosis +2 more
		SMN1	Unknown	20301526	Orphanet	snRNP Assembly
		SMN2	Unknown	20301526	Orphanet	snRNP Assembly
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 4	83420	SMN1	Unknown	20301526	Orphanet	snRNP Assembly
PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 4	83420	SMN2	Unknown	20301526	Orphanet	snRNP Assembly