Disease table of SPASTIC ATAXIA OMIM ID: PS108600

Gene-disease associations table

GeneAssociated with SPASTIC ATAXIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
VAMP1ClinVar, OMIMHGNC link12p13.311PS108600
KIF1CClinVar, OMIM, HUMSAVARHGNC link17p13.21PS108600
MARS2ClinVar, OMIMHGNC link2q33.12PS609060, PS108600
AFG3L2ClinVar, OMIM, HUMSAVARHGNC link18p11.212PS164400, PS108600
SACSClinVar, OMIM, HUMSAVARHGNC link13q12.121PS108600
MTTPOMIMHGNC link4q233200100, PS108600, PS605552
MTPAPClinVar, HUMSAVARHGNC link10p11.231PS108600

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
MTTPYES2SREBF2, HNF1A0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KIF1CAFG3L2No1JUNB
MARS2AFG3L2No1APP
AFG3L2SACSNo1CCDC8
AFG3L2MTTPNo1NF2
AFG3L2MTPAPNo1NF2
MTTPMTPAPNo1NF2

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
VAMP1AFG3L2No-1UBC
VAMP1SACSNo-1UBC
VAMP1MTPAPNo-1UBC
AFG3L2SACSNo-1UBC
AFG3L2MTPAPNo-1UBC
SACSMTPAPNo-1UBC

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
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 (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.187MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
protein binding (GO:0005515) 0.466SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
carbohydrate derivative binding (GO:0097367) 2.034KIF1C, AFG3L2, MTPAP, MARS2
adenyl nucleotide binding (GO:0030554) 2.44KIF1C, AFG3L2, MTPAP, MARS2
purine ribonucleoside triphosphate binding (GO:0035639) 2.224KIF1C, AFG3L2, MTPAP, MARS2
ATP binding (GO:0005524) 2.434KIF1C, AFG3L2, MTPAP, MARS2
ribonucleotide binding (GO:0032553) 2.194KIF1C, AFG3L2, MTPAP, MARS2
nucleotide binding (GO:0000166) 1.964KIF1C, AFG3L2, MTPAP, MARS2
small molecule binding (GO:0036094) 1.894KIF1C, AFG3L2, MTPAP, MARS2
catalytic activity (GO:0003824) 1.054KIF1C, AFG3L2, MTPAP, MARS2
purine ribonucleoside binding (GO:0032550) 2.224KIF1C, AFG3L2, MTPAP, MARS2
adenyl ribonucleotide binding (GO:0032559) 2.414KIF1C, AFG3L2, MTPAP, MARS2
purine nucleoside binding (GO:0001883) 2.224KIF1C, AFG3L2, MTPAP, MARS2
ribonucleoside binding (GO:0032549) 2.224KIF1C, AFG3L2, MTPAP, MARS2
purine ribonucleotide binding (GO:0032555) 2.24KIF1C, AFG3L2, MTPAP, MARS2
purine nucleotide binding (GO:0017076) 2.194KIF1C, AFG3L2, MTPAP, MARS2
organic cyclic compound binding (GO:0097159) 1.054KIF1C, AFG3L2, MTPAP, MARS2
heterocyclic compound binding (GO:1901363) 1.064KIF1C, AFG3L2, MTPAP, MARS2
nucleoside phosphate binding (GO:1901265) 1.964KIF1C, AFG3L2, MTPAP, MARS2
nucleoside binding (GO:0001882) 2.214KIF1C, AFG3L2, MTPAP, MARS2
cation binding (GO:0043169) 1.42AFG3L2, MTPAP
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818) 3.032AFG3L2, KIF1C
nucleic acid binding (GO:0003676) 1.442KIF1C, MTPAP
transition metal ion binding (GO:0046914) 2.482AFG3L2, MTPAP
hydrolase activity (GO:0016787) 1.92AFG3L2, KIF1C
poly(A) RNA binding (GO:0044822) 2.692KIF1C, MTPAP
nucleoside-triphosphatase activity (GO:0017111) 3.092AFG3L2, KIF1C
hydrolase activity, acting on acid anhydrides (GO:0016817) 3.032AFG3L2, KIF1C
ion binding (GO:0043167) 1.362AFG3L2, MTPAP
pyrophosphatase activity (GO:0016462) 3.042AFG3L2, KIF1C
RNA binding (GO:0003723) 2.362KIF1C, MTPAP
ATPase activity (GO:0016887) 3.652AFG3L2, KIF1C
protein dimerization activity (GO:0046983) 2.722MTTP, MTPAP
metal ion binding (GO:0046872) 1.412AFG3L2, MTPAP
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.267MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
single-organism cellular process (GO:0044763) 0.655AFG3L2, KIF1C, MTTP, VAMP1, MARS2
single-organism process (GO:0044699) 0.485AFG3L2, KIF1C, MTTP, VAMP1, MARS2
primary metabolic process (GO:0044238) 0.694AFG3L2, MTPAP, MTTP, MARS2
cellular macromolecule metabolic process (GO:0044260) 0.934AFG3L2, MTPAP, MTTP, MARS2
transport (GO:0006810) 1.514AFG3L2, KIF1C, MTTP, VAMP1
cellular metabolic process (GO:0044237) 0.694AFG3L2, MTPAP, MTTP, MARS2
macromolecule metabolic process (GO:0043170) 0.834MTTP, AFG3L2, MTPAP, MARS2
organic substance metabolic process (GO:0071704) 0.634MTTP, AFG3L2, MTPAP, MARS2
metabolic process (GO:0008152) 0.584AFG3L2, MTPAP, MTTP, MARS2
establishment of localization (GO:0051234) 1.484AFG3L2, KIF1C, MTTP, VAMP1
localization (GO:0051179) 1.44AFG3L2, KIF1C, MTTP, VAMP1
organic substance biosynthetic process (GO:1901576) 1.343MTTP, MTPAP, MARS2
cellular component assembly (GO:0022607) 2.143AFG3L2, MTTP, VAMP1
cellular protein metabolic process (GO:0044267) 1.633MTTP, AFG3L2, MARS2
protein metabolic process (GO:0019538) 1.453MTTP, AFG3L2, MARS2
macromolecular complex subunit organization (GO:0043933) 2.143AFG3L2, MTTP, VAMP1
single-organism transport (GO:0044765) 2.183MTTP, AFG3L2, VAMP1
cellular component organization (GO:0016043) 1.243AFG3L2, MTTP, VAMP1
macromolecular complex assembly (GO:0065003) 2.553AFG3L2, MTTP, VAMP1
cellular biosynthetic process (GO:0044249) 1.373MARS2, MTPAP, MTTP
biosynthetic process (GO:0009058) 1.323MARS2, MTPAP, MTTP
macromolecule biosynthetic process (GO:0009059) 1.613MTTP, MTPAP, MARS2
biological regulation (GO:0065007) 0.393AFG3L2, MTTP, SACS
single-organism localization (GO:1902578) 2.093MTTP, AFG3L2, VAMP1
cellular macromolecule biosynthetic process (GO:0034645) 1.663MTTP, MTPAP, MARS2
cellular component organization or biogenesis (GO:0071840) 1.223AFG3L2, MTTP, VAMP1
establishment of localization in cell (GO:0051649) 2.472AFG3L2, KIF1C
nucleic acid metabolic process (GO:0090304) 1.462MARS2, MTPAP
membrane organization (GO:0061024) 3.042AFG3L2, VAMP1
cellular nitrogen compound metabolic process (GO:0034641) 1.222MARS2, MTPAP
nitrogen compound metabolic process (GO:0006807) 1.132MARS2, MTPAP
cellular localization (GO:0051641) 2.322AFG3L2, KIF1C
regulation of biological process (GO:0050789) 0.452AFG3L2, SACS
organic cyclic compound metabolic process (GO:1901360) 1.262MARS2, MTPAP
nucleobase-containing compound metabolic process (GO:0006139) 1.352MARS2, MTPAP
single-organism metabolic process (GO:0044710) 1.632MTTP, MARS2
protein complex subunit organization (GO:0071822) 2.62AFG3L2, VAMP1
organic substance transport (GO:0071702) 2.152AFG3L2, MTTP
macromolecule localization (GO:0033036) 2.342AFG3L2, MTTP
organelle organization (GO:0006996) 2.022AFG3L2, VAMP1
protein complex assembly (GO:0006461) 2.782AFG3L2, VAMP1
cellular aromatic compound metabolic process (GO:0006725) 1.32MARS2, MTPAP
establishment of protein localization (GO:0045184) 2.532AFG3L2, MTTP
single-organism membrane organization (GO:0044802) 3.192AFG3L2, VAMP1
single-organism membrane fusion (GO:0044801) 4.892AFG3L2, VAMP1
heterocycle metabolic process (GO:0046483) 1.312MARS2, MTPAP
RNA metabolic process (GO:0016070) 1.592MARS2, MTPAP
membrane fusion (GO:0061025) 4.682AFG3L2, VAMP1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592MARS2, MTPAP
vesicle-mediated transport (GO:0016192) 2.722KIF1C, VAMP1
intracellular transport (GO:0046907) 2.672AFG3L2, KIF1C
response to stimulus (GO:0050896) 1.222AFG3L2, MTTP
single-organism organelle organization (GO:1902589) 2.682AFG3L2, VAMP1
organelle fusion (GO:0048284) 4.862AFG3L2, VAMP1

NET-GE enrichment

Term New enriched termICP valueGenes
cell death (GO:0008219) NEW3.050.001KIF1C, AFG3L2, MTPAP, MARS2, SACS
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.67MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
cell part (GO:0044464) 0.117MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
cytoplasmic part (GO:0044444) 0.827MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
intracellular organelle (GO:0043229) 0.517MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
intracellular part (GO:0044424) 0.287MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
membrane-bounded organelle (GO:0043227) 0.477MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
organelle (GO:0043226) 0.47MARS2, SACS, AFG3L2, MTPAP, VAMP1, MTTP, KIF1C
intracellular organelle part (GO:0044446) 0.815MTTP, AFG3L2, KIF1C, MARS2, VAMP1
mitochondrion (GO:0005739) 2.425SACS, AFG3L2, MTPAP, MARS2, VAMP1
organelle part (GO:0044422) 0.795AFG3L2, KIF1C, MTTP, VAMP1, MARS2
cytoplasm (GO:0005737) 1.014KIF1C, MARS2, MTPAP, SACS
protein complex (GO:0043234) 1.513MTTP, KIF1C, VAMP1
membrane part (GO:0044425) 0.953AFG3L2, MTTP, VAMP1
membrane (GO:0016020) 0.683AFG3L2, MTTP, VAMP1
macromolecular complex (GO:0032991) 1.353MTTP, KIF1C, VAMP1
mitochondrial part (GO:0044429) 2.923AFG3L2, MARS2, VAMP1
Golgi apparatus (GO:0005794) 2.72MTTP, KIF1C
endoplasmic reticulum (GO:0005783) 2.562MTTP, KIF1C
organelle lumen (GO:0043233) 3.052MTTP, MARS2
integral component of membrane (GO:0016021) 1.142AFG3L2, VAMP1
cell projection part (GO:0044463) 2.972MTTP, VAMP1
neuron part (GO:0097458) 2.642SACS, VAMP1
membrane-enclosed lumen (GO:0031974) 3.052MTTP, MARS2
mitochondrial membrane (GO:0031966) 3.312AFG3L2, VAMP1
intracellular organelle lumen (GO:0070013) 3.052MTTP, MARS2
organelle membrane (GO:0031090) 1.972AFG3L2, VAMP1
neuron projection (GO:0043005) 3.122SACS, VAMP1
cell projection (GO:0042995) 2.472SACS, VAMP1
plasma membrane part (GO:0044459) 1.952MTTP, VAMP1
cytosol (GO:0005829) 1.682MARS2, VAMP1
intrinsic component of membrane (GO:0031224) 1.132AFG3L2, VAMP1
vesicle (GO:0031982) 1.642MTTP, VAMP1