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

GeDiPNet

Log in to bookmark this disease

Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE DISTAL SPINAL MUSCULAR ATROPHY 1	MONDO:0011436	IGHMBP2	Causal	15290238 11528396	ClinVar, GWAS catalog	—
AUTOSOMAL RECESSIVE DISTAL SPINAL MUSCULAR ATROPHY 2	MONDO:0011585	SIGMAR1	Causal	16669912 2329048 26078401 27402882 27629094 28708278 29115704	ClinVar, GWAS catalog	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases
DISTAL SPINAL MUSCULAR ATROPHY	C0393541	DST	Causal	—	Disgenet	Assembly of collagen fibrils and other multimeric structures Type I hemidesmosome assembly
		GARS1	Causal	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation Mitochondrial tRNA aminoacylation
		HSPB1	Causal	—	Disgenet	MAPK signaling pathway VEGF signaling pathway Amoebiasis +4 more
		IGHMBP2	Causal	—	Disgenet	—
		MORC2	Causal	—	Disgenet	Fatty acyl-CoA biosynthesis
		SETX	Causal	—	Disgenet	Amyotrophic lateral sclerosis
		SH3TC2	Causal	—	Disgenet	—
		SPG7	Causal	—	Disgenet	Processing of SMDT1
		TRPV4	Causal	—	Disgenet	Cellular senescence Inflammatory mediator regulation of TRP channels Fluid shear stress and atherosclerosis +1 more
		VRK1	Causal	—	Disgenet	Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation
		AARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		BAG3	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		BSCL2	Unknown	—	Disgenet	—
		DCTN1	Unknown	—	Disgenet	Motor proteins Vasopressin-regulated water reabsorption Amyotrophic lateral sclerosis +15 more
		DYNC1H1	Unknown	—	Disgenet	Phagosome Motor proteins Vasopressin-regulated water reabsorption +21 more
		ETFDH	Unknown	—	Disgenet	Respiratory electron transport
		FBXO38	Unknown	—	Disgenet	—
		FUS	Unknown	—	Disgenet	mRNA surveillance pathway Spliceosome Amyotrophic lateral sclerosis +3 more
		HSPB3	Unknown	—	Disgenet	—
		HSPB8	Unknown	—	Disgenet	HSF1-dependent transactivation
		LITAF	Unknown	—	Disgenet	Lysosome
		MARS1	Unknown	—	Disgenet	Selenocompound metabolism Aminoacyl-tRNA biosynthesis Metabolic pathways +1 more
		NEFL	Unknown	—	Disgenet	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases Unblocking of NMDA receptors, glutamate binding and activation +1 more
		PLEKHG5	Unknown	—	Disgenet	Pathways in cancer NRAGE signals death through JNK Rho GTPase cycle +1 more
		PMP22	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		PRX	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SLC5A7	Unknown	—	Disgenet	Cholinergic synapse Choline metabolism in cancer Acetylcholine Neurotransmitter Release Cycle +2 more
		SPTAN1	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		TDRKH	Unknown	—	Disgenet	—
		WARS1	Unknown	—	Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation