Disease table of CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM OMIM ID: PS224050

Gene-disease associations table

Gene	Associated with CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
ATP8A2	ClinVar, OMIM, HUMSAVAR	HGNC link	13q12.13	1	PS224050
CA8	ClinVar, OMIM, HUMSAVAR	HGNC link	8q12.1	1	PS224050
VLDLR	ClinVar, OMIM	HGNC link	9p24.2	1	PS224050
WDR81	ClinVar, OMIM, HUMSAVAR	HGNC link	17p13.3	1	PS224050

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 gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
VLDLR	YES	2	PPARG, CEBPA	0

Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
VLDLR	WDR81	No	-	1	UBC

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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Ion channel transport (R-HSA-983712)	NEW	5.34	0.005	ATP8A2, VLDLR
Transmembrane transport of small molecules (R-HSA-382551)	NEW	3.79	0.049	ATP8A2, VLDLR

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	4	WDR81, ATP8A2, CA8, VLDLR
cation binding (GO:0043169)	1.4	3	VLDLR, ATP8A2, CA8
metal ion binding (GO:0046872)	1.41	3	VLDLR, ATP8A2, CA8
protein binding (GO:0005515)	0.46	3	WDR81, VLDLR, CA8
ion binding (GO:0043167)	1.36	3	VLDLR, ATP8A2, CA8
carbohydrate derivative binding (GO:0097367)	2.03	2	ATP8A2, VLDLR
transporter activity (GO:0005215)	2.57	2	ATP8A2, VLDLR
catalytic activity (GO:0003824)	1.05	2	ATP8A2, CA8

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	4	WDR81, ATP8A2, CA8, VLDLR
regulation of cellular process (GO:0050794)	0.5	4	WDR81, VLDLR, ATP8A2, CA8
single-organism cellular process (GO:0044763)	0.65	4	WDR81, VLDLR, ATP8A2, CA8
biological regulation (GO:0065007)	0.39	4	WDR81, VLDLR, ATP8A2, CA8
regulation of biological process (GO:0050789)	0.45	4	WDR81, ATP8A2, CA8, VLDLR
single-organism process (GO:0044699)	0.48	4	WDR81, VLDLR, ATP8A2, CA8
developmental process (GO:0032502)	1.36	3	WDR81, ATP8A2, VLDLR
anatomical structure development (GO:0048856)	1.58	3	WDR81, ATP8A2, VLDLR
cellular developmental process (GO:0048869)	1.82	3	WDR81, ATP8A2, VLDLR
transport (GO:0006810)	1.51	3	WDR81, ATP8A2, VLDLR
cellular component organization (GO:0016043)	1.24	3	VLDLR, ATP8A2, WDR81
single-organism developmental process (GO:0044767)	1.49	3	VLDLR, ATP8A2, WDR81
single-organism transport (GO:0044765)	2.18	3	WDR81, ATP8A2, VLDLR
negative regulation of cellular process (GO:0048523)	1.41	3	WDR81, ATP8A2, VLDLR
single-organism localization (GO:1902578)	2.09	3	WDR81, ATP8A2, VLDLR
negative regulation of biological process (GO:0048519)	1.33	3	VLDLR, ATP8A2, WDR81
establishment of localization (GO:0051234)	1.48	3	WDR81, ATP8A2, VLDLR
localization (GO:0051179)	1.4	3	VLDLR, ATP8A2, WDR81
cellular component organization or biogenesis (GO:0071840)	1.22	3	WDR81, ATP8A2, VLDLR
regulation of phosphate metabolic process (GO:0019220)	2.35	2	WDR81, VLDLR
regulation of multicellular organismal process (GO:0051239)	1.87	2	ATP8A2, VLDLR
regulation of metabolic process (GO:0019222)	1.02	2	WDR81, VLDLR
lipid transport (GO:0006869)	4.24	2	ATP8A2, VLDLR
cell projection organization (GO:0030030)	3.14	2	ATP8A2, VLDLR
negative regulation of cellular metabolic process (GO:0031324)	2.01	2	WDR81, VLDLR
cell development (GO:0048468)	3.28	2	ATP8A2, WDR81
behavior (GO:0007610)	3.47	2	ATP8A2, VLDLR
regulation of cellular component organization (GO:0051128)	2.01	2	ATP8A2, VLDLR
multicellular organismal process (GO:0032501)	1.45	2	ATP8A2, VLDLR
signal transduction (GO:0007165)	1.28	2	VLDLR, CA8
regulation of nervous system development (GO:0051960)	3.1	2	ATP8A2, VLDLR
negative regulation of metabolic process (GO:0009892)	1.93	2	VLDLR, WDR81
anatomical structure morphogenesis (GO:0009653)	2.53	2	ATP8A2, VLDLR
regulation of cell projection organization (GO:0031344)	3.38	2	ATP8A2, VLDLR
positive regulation of cell projection organization (GO:0031346)	3.99	2	ATP8A2, VLDLR
regulation of neurogenesis (GO:0050767)	3.21	2	ATP8A2, VLDLR
single-organism metabolic process (GO:0044710)	1.63	2	VLDLR, CA8
positive regulation of multicellular organismal process (GO:0051240)	2.49	2	ATP8A2, VLDLR
cell projection morphogenesis (GO:0048858)	4.05	2	ATP8A2, VLDLR
regulation of cell development (GO:0060284)	3.01	2	ATP8A2, VLDLR
positive regulation of neurogenesis (GO:0050769)	3.77	2	ATP8A2, VLDLR
regulation of neuron differentiation (GO:0045664)	3.39	2	ATP8A2, VLDLR
positive regulation of neuron differentiation (GO:0045666)	3.98	2	ATP8A2, VLDLR
positive regulation of cell development (GO:0010720)	3.57	2	ATP8A2, VLDLR
neurological system process (GO:0050877)	2.64	2	ATP8A2, VLDLR
positive regulation of biological process (GO:0048518)	1.2	2	ATP8A2, VLDLR
regulation of molecular function (GO:0065009)	1.78	2	VLDLR, WDR81
positive regulation of cellular component organization (GO:0051130)	2.68	2	ATP8A2, VLDLR
organelle organization (GO:0006996)	2.02	2	ATP8A2, WDR81
regulation of neuron projection development (GO:0010975)	3.69	2	ATP8A2, VLDLR
regulation of developmental process (GO:0050793)	2.1	2	ATP8A2, VLDLR
animal organ development (GO:0048513)	2.53	2	ATP8A2, VLDLR
regulation of catalytic activity (GO:0050790)	1.97	2	WDR81, VLDLR
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	WDR81, VLDLR
regulation of cell differentiation (GO:0045595)	2.42	2	ATP8A2, VLDLR
organic substance transport (GO:0071702)	2.15	2	ATP8A2, VLDLR
metabolic process (GO:0008152)	0.58	2	VLDLR, CA8
system process (GO:0003008)	2.3	2	ATP8A2, VLDLR
positive regulation of cell differentiation (GO:0045597)	3.01	2	ATP8A2, VLDLR
response to abiotic stimulus (GO:0009628)	2.8	2	ATP8A2, VLDLR
cytoskeleton organization (GO:0007010)	3.22	2	ATP8A2, WDR81
cell part morphogenesis (GO:0032990)	3.99	2	ATP8A2, VLDLR
response to external stimulus (GO:0009605)	2.55	2	ATP8A2, VLDLR
positive regulation of developmental process (GO:0051094)	2.77	2	ATP8A2, VLDLR
response to stimulus (GO:0050896)	1.22	2	ATP8A2, VLDLR
positive regulation of neuron projection development (GO:0010976)	4.26	2	ATP8A2, VLDLR
regulation of cellular metabolic process (GO:0031323)	1.07	2	WDR81, VLDLR
positive regulation of nervous system development (GO:0051962)	3.64	2	ATP8A2, VLDLR
single-organism organelle organization (GO:1902589)	2.68	2	ATP8A2, WDR81
neuron projection morphogenesis (GO:0048812)	4.34	2	ATP8A2, VLDLR
regulation of multicellular organismal development (GO:2000026)	2.31	2	ATP8A2, VLDLR
cellular component morphogenesis (GO:0032989)	3.5	2	ATP8A2, VLDLR
positive regulation of cellular process (GO:0048522)	1.3	2	ATP8A2, VLDLR
small molecule metabolic process (GO:0044281)	2.38	2	VLDLR, CA8

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
positive regulation of neuron projection development (GO:0010976)	-	4.26	0.022	ATP8A2, VLDLR

GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
intracellular part (GO:0044424)	0.28	4	WDR81, ATP8A2, CA8, VLDLR
cell part (GO:0044464)	0.11	4	WDR81, VLDLR, ATP8A2, CA8
cytoplasmic part (GO:0044444)	0.82	3	VLDLR, ATP8A2, WDR81
intracellular organelle (GO:0043229)	0.51	3	WDR81, ATP8A2, VLDLR
membrane-bounded organelle (GO:0043227)	0.47	3	WDR81, ATP8A2, VLDLR
organelle (GO:0043226)	0.4	3	WDR81, ATP8A2, VLDLR
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	VLDLR, ATP8A2, WDR81
cytoplasm (GO:0005737)	1.01	2	WDR81, CA8
protein complex (GO:0043234)	1.51	2	VLDLR, WDR81
macromolecular complex (GO:0032991)	1.35	2	VLDLR, WDR81
integral component of membrane (GO:0016021)	1.14	2	ATP8A2, VLDLR
membrane (GO:0016020)	0.68	2	ATP8A2, VLDLR
intracellular organelle part (GO:0044446)	0.81	2	ATP8A2, WDR81
neuron part (GO:0097458)	2.64	2	ATP8A2, WDR81
organelle part (GO:0044422)	0.79	2	ATP8A2, WDR81
plasma membrane (GO:0005886)	1.39	2	ATP8A2, VLDLR
membrane part (GO:0044425)	0.95	2	ATP8A2, VLDLR
intrinsic component of membrane (GO:0031224)	1.13	2	ATP8A2, VLDLR