Disease table of SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT OMIM ID: PS158600

Gene-disease associations table

GeneAssociated with SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
BICD2ClinVar, OMIM, HUMSAVARHGNC link9q22.311PS158600
DYNC1H1ClinVar, OMIM, HUMSAVARHGNC link14q32.313PS118220, PS158600, PS156200

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
BICD2DYNC1H1Yes6DCTN2, PAFAH1B1, ACTR1A, DCTN1, DYNC1LI1, DYNC1I1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
BICD2DYNC1H1Yesbinding4PAFAH1B1, DCTN1, DCTN2, DYNC1I1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
BICD2DYNC1H1yes, they interactThey are in interaction. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182BICD2, DYNC1H1
protein binding (GO:0005515) 0.462BICD2, DYNC1H1

NET-GE enrichment

Term New enriched termICP valueGenes
small GTPase binding (GO:0031267) NEW4.130.041BICD2, DYNC1H1
GTPase binding (GO:0051020) NEW4.050.048BICD2, DYNC1H1
Rab GTPase binding (GO:0017137) NEW4.960.007BICD2, DYNC1H1
Ras GTPase binding (GO:0017016) NEW4.20.036BICD2, DYNC1H1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
movement of cell or subcellular component (GO:0006928) 2.612BICD2, DYNC1H1
microtubule cytoskeleton organization (GO:0000226) 4.132BICD2, DYNC1H1
establishment of organelle localization (GO:0051656) 4.152BICD2, DYNC1H1
single-organism process (GO:0044699) 0.482BICD2, DYNC1H1
cellular component organization or biogenesis (GO:0071840) 1.222BICD2, DYNC1H1
cellular component organization (GO:0016043) 1.242BICD2, DYNC1H1
single-organism localization (GO:1902578) 2.092BICD2, DYNC1H1
cellular process (GO:0009987) 0.262BICD2, DYNC1H1
transport (GO:0006810) 1.512BICD2, DYNC1H1
single-organism cellular process (GO:0044763) 0.652BICD2, DYNC1H1
establishment of localization in cell (GO:0051649) 2.472BICD2, DYNC1H1
establishment of localization (GO:0051234) 1.482BICD2, DYNC1H1
localization (GO:0051179) 1.42BICD2, DYNC1H1
organelle localization (GO:0051640) 3.942BICD2, DYNC1H1
cellular localization (GO:0051641) 2.322BICD2, DYNC1H1
organelle organization (GO:0006996) 2.022BICD2, DYNC1H1
microtubule-based process (GO:0007017) 3.542BICD2, DYNC1H1
cytoskeleton organization (GO:0007010) 3.222BICD2, DYNC1H1
intracellular transport (GO:0046907) 2.672BICD2, DYNC1H1
microtubule-based movement (GO:0007018) 4.392BICD2, DYNC1H1
single-organism organelle organization (GO:1902589) 2.682BICD2, DYNC1H1
single-organism cellular localization (GO:1902580) 3.162BICD2, DYNC1H1

NET-GE enrichment

Term New enriched termICP valueGenes
microtubule-based movement (GO:0007018) -4.390.018BICD2, DYNC1H1
organelle transport along microtubule (GO:0072384) NEW5.630.003BICD2, DYNC1H1
cytoskeleton-dependent intracellular transport (GO:0030705) NEW4.960.036BICD2, DYNC1H1
microtubule-based transport (GO:0010970) NEW5.140.03BICD2, DYNC1H1
microtubule cytoskeleton organization (GO:0000226) -4.130.025BICD2, DYNC1H1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoskeleton (GO:0005856) 2.552BICD2, DYNC1H1
cytoplasm (GO:0005737) 1.012BICD2, DYNC1H1
vesicle (GO:0031982) 1.642BICD2, DYNC1H1
intracellular non-membrane-bounded organelle (GO:0043232) 1.762BICD2, DYNC1H1
membrane (GO:0016020) 0.682BICD2, DYNC1H1
cell part (GO:0044464) 0.112BICD2, DYNC1H1
cytoplasmic part (GO:0044444) 0.822BICD2, DYNC1H1
intracellular organelle (GO:0043229) 0.512BICD2, DYNC1H1
non-membrane-bounded organelle (GO:0043228) 1.762BICD2, DYNC1H1
intracellular part (GO:0044424) 0.282BICD2, DYNC1H1
membrane-bounded organelle (GO:0043227) 0.472BICD2, DYNC1H1
organelle (GO:0043226) 0.42BICD2, DYNC1H1