Disease table of NEURODEGENERATION WITH BRAIN IRON ACCUMULATION OMIM ID: PS234200

Gene-disease associations table

GeneAssociated with NEURODEGENERATION WITH BRAIN IRON ACCUMULATION inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
COASYClinVar, OMIM, HUMSAVARHGNC link17q21.21PS234200
PANK2ClinVar, OMIM, HUMSAVARHGNC link20p133PS268000, 607236, PS234200
WDR45ClinVar, OMIMHGNC linkXp11.231PS234200
FTLClinVar, OMIM, HUMSAVARHGNC link19q13.333600886, 615604, PS234200
PLA2G6ClinVar, OMIM, HUMSAVARHGNC link22q13.12PS168600, PS234200
C19orf12ClinVar, OMIM, HUMSAVARHGNC link19q122PS234200, PS303350

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
19q12C19orf12, FTL
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
19q2C19orf12, FTL
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
192C19orf12, FTL
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PANK2YES1FOXN40
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
COASYWDR45No1APP
COASYPLA2G6No1BAG3
COASYC19orf12No1APP
WDR45C19orf12No1APP

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
COASYPANK2No-1UBC
COASYFTLNo-1UBC
PANK2FTLNo-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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.493PLA2G6, PANK2, COASY
Pantothenate and CoA biosynthesishsa007708.682PANK2, COASY

NET-GE enrichment

Term New enriched termICP valueGenes
Pantothenate and CoA biosynthesis (hsa00770) -8.680.001PANK2, COASY
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MetabolismR-HSA-14307282.343PLA2G6, PANK2, COASY
Metabolism of vitamins and cofactorsR-HSA-1968546.542PANK2, COASY
Coenzyme A biosynthesisR-HSA-1967839.982PANK2, COASY
Metabolism of water-soluble vitamins and cofactorsR-HSA-1968496.542PANK2, COASY
Vitamin B5 (pantothenate) metabolismR-HSA-1992209.42PANK2, COASY

NET-GE enrichment

Term New enriched termICP valueGenes
Metabolism of vitamins and cofactors (R-HSA-196854) -6.540.03PANK2, COASY
Coenzyme A biosynthesis (R-HSA-196783) -9.980.001PANK2, COASY
Metabolism of water-soluble vitamins and cofactors (R-HSA-196849) -6.540.03PANK2, COASY
Vitamin B5 (pantothenate) metabolism (R-HSA-199220) -9.40.001PANK2, COASY
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.185FTL, WDR45, PLA2G6, PANK2, COASY
catalytic activity (GO:0003824) 1.053PLA2G6, PANK2, COASY
protein binding (GO:0005515) 0.463FTL, PLA2G6, COASY
purine ribonucleoside triphosphate binding (GO:0035639) 2.222PANK2, COASY
nucleotide binding (GO:0000166) 1.962PANK2, COASY
heterocyclic compound binding (GO:1901363) 1.062PANK2, COASY
nucleoside phosphate binding (GO:1901265) 1.962PANK2, COASY
nucleoside binding (GO:0001882) 2.212PANK2, COASY
ion binding (GO:0043167) 1.362FTL, WDR45
transferase activity (GO:0016740) 1.952PANK2, COASY
purine nucleoside binding (GO:0001883) 2.222PANK2, COASY
ribonucleoside binding (GO:0032549) 2.222PANK2, COASY
purine nucleotide binding (GO:0017076) 2.192PANK2, COASY
ATP binding (GO:0005524) 2.432PANK2, COASY
kinase activity (GO:0016301) 2.932PANK2, COASY
small molecule binding (GO:0036094) 1.892PANK2, COASY
adenyl nucleotide binding (GO:0030554) 2.42PANK2, COASY
carbohydrate derivative binding (GO:0097367) 2.032PANK2, COASY
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772PANK2, COASY
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082PANK2, COASY
adenyl ribonucleotide binding (GO:0032559) 2.412PANK2, COASY
organic cyclic compound binding (GO:0097159) 1.052PANK2, COASY
purine ribonucleotide binding (GO:0032555) 2.22PANK2, COASY
purine ribonucleoside binding (GO:0032550) 2.222PANK2, COASY
ribonucleotide binding (GO:0032553) 2.192PANK2, COASY
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.265FTL, WDR45, PLA2G6, PANK2, COASY
single-organism cellular process (GO:0044763) 0.655FTL, WDR45, PLA2G6, PANK2, COASY
single-organism process (GO:0044699) 0.485FTL, WDR45, PLA2G6, PANK2, COASY
primary metabolic process (GO:0044238) 0.694WDR45, PLA2G6, PANK2, COASY
metabolic process (GO:0008152) 0.584WDR45, PLA2G6, PANK2, COASY
cellular metabolic process (GO:0044237) 0.694WDR45, PLA2G6, PANK2, COASY
organic substance metabolic process (GO:0071704) 0.634WDR45, PLA2G6, PANK2, COASY
organic substance biosynthetic process (GO:1901576) 1.343PLA2G6, PANK2, COASY
single-organism metabolic process (GO:0044710) 1.633PLA2G6, PANK2, COASY
single-organism biosynthetic process (GO:0044711) 2.83PLA2G6, PANK2, COASY
biosynthetic process (GO:0009058) 1.323PLA2G6, PANK2, COASY
cellular biosynthetic process (GO:0044249) 1.373PLA2G6, PANK2, COASY
phosphate-containing compound metabolic process (GO:0006796) 2.163PLA2G6, PANK2, COASY
nitrogen compound metabolic process (GO:0006807) 1.133PLA2G6, PANK2, COASY
biological regulation (GO:0065007) 0.393FTL, PLA2G6, PANK2
phosphorus metabolic process (GO:0006793) 2.153PLA2G6, PANK2, COASY
organophosphate metabolic process (GO:0019637) 3.043PLA2G6, PANK2, COASY
regulation of biological quality (GO:0065008) 1.683FTL, PLA2G6, PANK2
organophosphate biosynthetic process (GO:0090407) 3.673PLA2G6, PANK2, COASY
cellular homeostasis (GO:0019725) 3.232FTL, PLA2G6
purine ribonucleoside biosynthetic process (GO:0046129) 5.252PANK2, COASY
regulation of primary metabolic process (GO:0080090) 1.082PLA2G6, PANK2
regulation of metabolic process (GO:0019222) 1.022PLA2G6, PANK2
coenzyme A biosynthetic process (GO:0015937) 7.532PANK2, COASY
coenzyme metabolic process (GO:0006732) 4.142PANK2, COASY
phosphorylation (GO:0016310) 2.632PANK2, COASY
ion homeostasis (GO:0050801) 3.422FTL, PLA2G6
metal ion homeostasis (GO:0055065) 3.612FTL, PLA2G6
cellular chemical homeostasis (GO:0055082) 3.42FTL, PLA2G6
homeostatic process (GO:0042592) 2.612FTL, PLA2G6
cation homeostasis (GO:0055080) 3.462FTL, PLA2G6
cellular nitrogen compound metabolic process (GO:0034641) 1.222PANK2, COASY
nucleotide biosynthetic process (GO:0009165) 4.492PANK2, COASY
coenzyme biosynthetic process (GO:0009108) 4.892PANK2, COASY
nucleoside biosynthetic process (GO:0009163) 4.972PANK2, COASY
inorganic ion homeostasis (GO:0098771) 3.432FTL, PLA2G6
purine-containing compound metabolic process (GO:0072521) 4.02PANK2, COASY
purine-containing compound biosynthetic process (GO:0072522) 4.792PANK2, COASY
chemical homeostasis (GO:0048878) 2.972FTL, PLA2G6
organic cyclic compound biosynthetic process (GO:1901362) 1.662PANK2, COASY
regulation of biological process (GO:0050789) 0.452PLA2G6, PANK2
mitochondrion organization (GO:0007005) 3.692WDR45, PANK2
nucleobase-containing compound metabolic process (GO:0006139) 1.352PANK2, COASY
cofactor metabolic process (GO:0051186) 3.912PANK2, COASY
coenzyme A metabolic process (GO:0015936) 7.162PANK2, COASY
cellular component organization or biogenesis (GO:0071840) 1.222WDR45, PANK2
purine nucleoside metabolic process (GO:0042278) 4.322PANK2, COASY
ribonucleoside bisphosphate metabolic process (GO:0033875) 6.232PANK2, COASY
cofactor biosynthetic process (GO:0051188) 4.622PANK2, COASY
cellular component organization (GO:0016043) 1.242WDR45, PANK2
ribonucleotide metabolic process (GO:0009259) 4.112PANK2, COASY
organic cyclic compound metabolic process (GO:1901360) 1.262PANK2, COASY
purine nucleoside bisphosphate biosynthetic process (GO:0034033) 7.022PANK2, COASY
purine ribonucleotide metabolic process (GO:0009150) 4.162PANK2, COASY
heterocycle biosynthetic process (GO:0018130) 1.72PANK2, COASY
ribonucleoside metabolic process (GO:0009119) 4.212PANK2, COASY
purine nucleoside bisphosphate metabolic process (GO:0034032) 6.232PANK2, COASY
nucleoside bisphosphate biosynthetic process (GO:0033866) 7.022PANK2, COASY
regulation of lipid metabolic process (GO:0019216) 4.082PLA2G6, PANK2
cellular metal ion homeostasis (GO:0006875) 3.752FTL, PLA2G6
cellular aromatic compound metabolic process (GO:0006725) 1.32PANK2, COASY
ribonucleoside biosynthetic process (GO:0042455) 5.062PANK2, COASY
purine ribonucleotide biosynthetic process (GO:0009152) 4.922PANK2, COASY
cellular ion homeostasis (GO:0006873) 3.572FTL, PLA2G6
regulation of cellular process (GO:0050794) 0.52PLA2G6, PANK2
regulation of cellular metabolic process (GO:0031323) 1.072PLA2G6, PANK2
ribonucleotide biosynthetic process (GO:0009260) 4.822PANK2, COASY
nucleotide metabolic process (GO:0009117) 3.732PANK2, COASY
nucleoside metabolic process (GO:0009116) 4.122PANK2, COASY
cellular cation homeostasis (GO:0030003) 3.62FTL, PLA2G6
glycosyl compound biosynthetic process (GO:1901659) 4.952PANK2, COASY
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722PANK2, COASY
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592PANK2, COASY
purine nucleoside biosynthetic process (GO:0042451) 5.252PANK2, COASY
purine ribonucleoside metabolic process (GO:0046128) 4.332PANK2, COASY
ribonucleoside bisphosphate biosynthetic process (GO:0034030) 7.022PANK2, COASY
localization (GO:0051179) 1.42FTL, WDR45
nucleobase-containing small molecule metabolic process (GO:0055086) 3.592PANK2, COASY
heterocycle metabolic process (GO:0046483) 1.312PANK2, COASY
organelle organization (GO:0006996) 2.022WDR45, PANK2
single organism reproductive process (GO:0044702) 2.732PLA2G6, PANK2
organonitrogen compound metabolic process (GO:1901564) 2.322PANK2, COASY
organonitrogen compound biosynthetic process (GO:1901566) 2.852PANK2, COASY
reproductive process (GO:0022414) 2.552PLA2G6, PANK2
carbohydrate derivative biosynthetic process (GO:1901137) 3.732PANK2, COASY
carbohydrate derivative metabolic process (GO:1901135) 3.072PANK2, COASY
ribose phosphate biosynthetic process (GO:0046390) 4.792PANK2, COASY
ribose phosphate metabolic process (GO:0019693) 4.062PANK2, COASY
nucleoside bisphosphate metabolic process (GO:0033865) 6.232PANK2, COASY
purine nucleotide metabolic process (GO:0006163) 4.092PANK2, COASY
glycosyl compound metabolic process (GO:1901657) 4.042PANK2, COASY
single-organism organelle organization (GO:1902589) 2.682WDR45, PANK2
nucleoside phosphate biosynthetic process (GO:1901293) 4.472PANK2, COASY
purine nucleotide biosynthetic process (GO:0006164) 4.872PANK2, COASY
aromatic compound biosynthetic process (GO:0019438) 1.72PANK2, COASY
nucleoside phosphate metabolic process (GO:0006753) 3.712PANK2, COASY
small molecule metabolic process (GO:0044281) 2.382PANK2, COASY

NET-GE enrichment

Term New enriched termICP valueGenes
coenzyme A metabolic process (GO:0015936) -7.160.006PANK2, COASY
coenzyme A biosynthetic process (GO:0015937) -7.530.005PANK2, COASY
pantothenate metabolic process (GO:0015939) NEW7.650.002PANK2, COASY
nucleoside bisphosphate biosynthetic process (GO:0033866) -7.020.005PANK2, COASY
nucleoside bisphosphate metabolic process (GO:0033865) -6.230.02PANK2, COASY
ribonucleoside bisphosphate metabolic process (GO:0033875) -6.230.02PANK2, COASY
cell death (GO:0008219) NEW3.050.004PLA2G6, FTL, PANK2, C19orf12, COASY, WDR45
ribonucleoside bisphosphate biosynthetic process (GO:0034030) -7.020.005PANK2, COASY
purine-containing compound biosynthetic process (GO:0072522) -4.790.04FTL, PANK2, COASY
purine nucleoside bisphosphate metabolic process (GO:0034032) -6.230.02PANK2, COASY
purine nucleoside bisphosphate biosynthetic process (GO:0034033) -7.020.005PANK2, COASY
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.286PLA2G6, FTL, PANK2, C19orf12, COASY, WDR45
cytoplasmic part (GO:0044444) 0.826PLA2G6, FTL, PANK2, C19orf12, COASY, WDR45
cell part (GO:0044464) 0.116PLA2G6, FTL, PANK2, C19orf12, COASY, WDR45
membrane (GO:0016020) 0.685FTL, PLA2G6, WDR45, C19orf12, COASY
membrane-bounded organelle (GO:0043227) 0.475FTL, PLA2G6, PANK2, C19orf12, COASY
organelle (GO:0043226) 0.45FTL, PLA2G6, PANK2, C19orf12, COASY
intracellular membrane-bounded organelle (GO:0043231) 0.64PLA2G6, PANK2, C19orf12, COASY
cytosol (GO:0005829) 1.684FTL, WDR45, PLA2G6, PANK2
mitochondrion (GO:0005739) 2.424PLA2G6, PANK2, C19orf12, COASY
intracellular organelle part (GO:0044446) 0.814PLA2G6, PANK2, C19orf12, COASY
intracellular organelle (GO:0043229) 0.514PLA2G6, PANK2, C19orf12, COASY
organelle part (GO:0044422) 0.794PLA2G6, PANK2, C19orf12, COASY
cytoplasm (GO:0005737) 1.013PLA2G6, PANK2, COASY
integral component of membrane (GO:0016021) 1.143PLA2G6, WDR45, C19orf12
mitochondrial part (GO:0044429) 2.923PANK2, C19orf12, COASY
membrane part (GO:0044425) 0.953PLA2G6, WDR45, C19orf12
extracellular region part (GO:0044421) 1.573FTL, PLA2G6, COASY
intrinsic component of membrane (GO:0031224) 1.133PLA2G6, WDR45, C19orf12
extracellular organelle (GO:0043230) 1.892FTL, COASY
organelle membrane (GO:0031090) 1.972C19orf12, COASY
organelle lumen (GO:0043233) 3.052PANK2, COASY
extracellular exosome (GO:0070062) 1.892FTL, COASY
whole membrane (GO:0098805) 2.852WDR45, COASY
membrane-enclosed lumen (GO:0031974) 3.052PANK2, COASY
mitochondrial membrane (GO:0031966) 3.312C19orf12, COASY
intracellular organelle lumen (GO:0070013) 3.052PANK2, COASY
membrane-bounded vesicle (GO:0031988) 1.712FTL, COASY
extracellular vesicle (GO:1903561) 1.892FTL, COASY
vesicle (GO:0031982) 1.642FTL, COASY

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial part (GO:0044429) -2.920.035PANK2, C19orf12, COASY
mitochondrial intermembrane space (GO:0005758) NEW5.510.036FTL, PANK2