Disease table of 3-METHYLGLUTACONIC ACIDURIA OMIM ID: PS250950

Gene-disease associations table

Gene	Associated with 3-METHYLGLUTACONIC ACIDURIA in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AUH	ClinVar, OMIM, HUMSAVAR	HGNC link	9q22.31	1	PS250950
TAZ	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq28	1	PS250950
OPA3	ClinVar, OMIM	HGNC link	19q13.32	2	PS250950, PS165500
SERAC1	ClinVar, OMIM, HUMSAVAR	HGNC link	6q25.3	1	PS250950
CLPB	ClinVar, OMIM, HUMSAVAR	HGNC link	11q13.4	1	PS250950
DNAJC19	ClinVar, OMIM	HGNC link	3q26.33	1	PS250950

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

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
TAZ	OPA3	No	1	NXF1
OPA3	SERAC1	No	1	APP
OPA3	DNAJC19	No	1	APP
SERAC1	DNAJC19	No	1	APP

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
CLPB	DNAJC19	No	-	14	HSPA12A, HSPA9, HSPA8, HSPA13, HSPA12B, HSPA4, HSPA4L, ANKRD45, HSPA6, HSPH1, HYOU1, HSPA5, HSPA2, HSPA14

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

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Mitochondrial protein import	R-HSA-1268020	7.28	2	TAZ, DNAJC19
Metabolism	R-HSA-1430728	2.34	2	AUH, TAZ
Metabolism of proteins	R-HSA-392499	3.41	2	TAZ, DNAJC19

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Mitochondrial protein import (R-HSA-1268020)	-	7.28	0.003	TAZ, DNAJC19

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
catalytic activity (GO:0003824)	1.05	3	AUH, TAZ, CLPB
binding (GO:0005488)	0.18	3	AUH, DNAJC19, CLPB
organic cyclic compound binding (GO:0097159)	1.05	2	AUH, CLPB
heterocyclic compound binding (GO:1901363)	1.06	2	AUH, CLPB
protein binding (GO:0005515)	0.46	2	DNAJC19, CLPB

GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
cellular process (GO:0009987)	0.26	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
single-organism process (GO:0044699)	0.48	5	AUH, TAZ, DNAJC19, SERAC1, OPA3
single-organism cellular process (GO:0044763)	0.65	4	AUH, SERAC1, TAZ, OPA3
developmental process (GO:0032502)	1.36	3	TAZ, DNAJC19, OPA3
primary metabolic process (GO:0044238)	0.69	3	AUH, TAZ, SERAC1
single-organism metabolic process (GO:0044710)	1.63	3	AUH, SERAC1, TAZ
multicellular organismal process (GO:0032501)	1.45	3	TAZ, DNAJC19, OPA3
cellular component organization (GO:0016043)	1.24	3	SERAC1, TAZ, OPA3
single-organism developmental process (GO:0044767)	1.49	3	TAZ, DNAJC19, OPA3
organic substance metabolic process (GO:0071704)	0.63	3	AUH, SERAC1, TAZ
cellular metabolic process (GO:0044237)	0.69	3	AUH, TAZ, SERAC1
metabolic process (GO:0008152)	0.58	3	AUH, SERAC1, TAZ
cellular component organization or biogenesis (GO:0071840)	1.22	3	SERAC1, TAZ, OPA3
system process (GO:0003008)	2.3	3	TAZ, DNAJC19, OPA3
cellular biosynthetic process (GO:0044249)	1.37	2	SERAC1, TAZ
mitochondrion organization (GO:0007005)	3.69	2	TAZ, OPA3
organic substance biosynthetic process (GO:1901576)	1.34	2	SERAC1, TAZ
single-organism biosynthetic process (GO:0044711)	2.8	2	SERAC1, TAZ
single-organism organelle organization (GO:1902589)	2.68	2	TAZ, OPA3
animal organ development (GO:0048513)	2.53	2	TAZ, DNAJC19
phospholipid metabolic process (GO:0006644)	3.88	2	SERAC1, TAZ
lipid metabolic process (GO:0006629)	2.68	2	SERAC1, TAZ
neurological system process (GO:0050877)	2.64	2	DNAJC19, OPA3
visual perception (GO:0007601)	4.41	2	DNAJC19, OPA3
sensory perception (GO:0007600)	2.93	2	DNAJC19, OPA3
sensory perception of light stimulus (GO:0050953)	4.4	2	DNAJC19, OPA3
biosynthetic process (GO:0009058)	1.32	2	SERAC1, TAZ
cellular lipid metabolic process (GO:0044255)	2.92	2	SERAC1, TAZ
organophosphate biosynthetic process (GO:0090407)	3.67	2	SERAC1, TAZ
lipid biosynthetic process (GO:0008610)	3.49	2	SERAC1, TAZ
organelle organization (GO:0006996)	2.02	2	TAZ, OPA3
phospholipid biosynthetic process (GO:0008654)	4.39	2	SERAC1, TAZ
response to stimulus (GO:0050896)	1.22	2	OPA3, CLPB
anatomical structure development (GO:0048856)	1.58	2	TAZ, DNAJC19
phosphate-containing compound metabolic process (GO:0006796)	2.16	2	SERAC1, TAZ
phosphorus metabolic process (GO:0006793)	2.15	2	SERAC1, TAZ
organophosphate metabolic process (GO:0019637)	3.04	2	SERAC1, TAZ

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
intracellular membrane-bounded organelle (GO:0043231)	0.6	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
cell part (GO:0044464)	0.11	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
cytoplasmic part (GO:0044444)	0.82	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
mitochondrion (GO:0005739)	2.42	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
intracellular organelle (GO:0043229)	0.51	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
intracellular part (GO:0044424)	0.28	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
membrane-bounded organelle (GO:0043227)	0.47	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
organelle (GO:0043226)	0.4	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
integral component of membrane (GO:0016021)	1.14	3	SERAC1, DNAJC19, TAZ
membrane (GO:0016020)	0.68	3	SERAC1, DNAJC19, TAZ
organelle part (GO:0044422)	0.79	3	AUH, TAZ, DNAJC19
intracellular organelle part (GO:0044446)	0.81	3	AUH, TAZ, DNAJC19
mitochondrial part (GO:0044429)	2.92	3	AUH, TAZ, DNAJC19
membrane part (GO:0044425)	0.95	3	SERAC1, DNAJC19, TAZ
intrinsic component of membrane (GO:0031224)	1.13	3	SERAC1, DNAJC19, TAZ
mitochondrial inner membrane (GO:0005743)	3.65	2	TAZ, DNAJC19
organelle inner membrane (GO:0019866)	3.56	2	TAZ, DNAJC19
organelle membrane (GO:0031090)	1.97	2	TAZ, DNAJC19
mitochondrial membrane (GO:0031966)	3.31	2	TAZ, DNAJC19

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
mitochondrial part (GO:0044429)	-	2.92	0.041	AUH, TAZ, DNAJC19
mitochondrion (GO:0005739)	-	2.42	0.001	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3