Disease table of 3-METHYLGLUTACONIC ACIDURIA OMIM ID: PS250950

Gene-disease associations table

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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
CLPB	ClinVar, OMIM, HUMSAVAR	HGNC link	11q13.4	1	PS250950
DNAJC19	ClinVar, OMIM	HGNC link	3q26.33	1	PS250950
OPA3	ClinVar, OMIM	HGNC link	19q13.32	2	PS250950, PS165500
SERAC1	ClinVar, OMIM, HUMSAVAR	HGNC link	6q25.3	1	PS250950
TAZ	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq28	1	PS250950

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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

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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

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

Interactions from BIOGRID - genetic

Interactions from STRING

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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

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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

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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 of proteins	R-HSA-392499	3.41	2	TAZ, DNAJC19
Metabolism	R-HSA-1430728	2.34	2	AUH, TAZ

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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

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

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
visual perception (GO:0007601)	4.41	2	DNAJC19, OPA3
sensory perception of light stimulus (GO:0050953)	4.4	2	DNAJC19, OPA3
phospholipid biosynthetic process (GO:0008654)	4.39	2	SERAC1, TAZ
phospholipid metabolic process (GO:0006644)	3.88	2	SERAC1, TAZ
mitochondrion organization (GO:0007005)	3.69	2	TAZ, OPA3
organophosphate biosynthetic process (GO:0090407)	3.67	2	SERAC1, TAZ
lipid biosynthetic process (GO:0008610)	3.49	2	SERAC1, TAZ
organophosphate metabolic process (GO:0019637)	3.04	2	SERAC1, TAZ
sensory perception (GO:0007600)	2.93	2	DNAJC19, OPA3
cellular lipid metabolic process (GO:0044255)	2.92	2	SERAC1, TAZ

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

Shared terms

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GO	IC	Number of genes with the same GO	Genes
mitochondrial inner membrane (GO:0005743)	3.65	2	TAZ, DNAJC19
organelle inner membrane (GO:0019866)	3.56	2	TAZ, DNAJC19
mitochondrial membrane (GO:0031966)	3.31	2	TAZ, DNAJC19
mitochondrial part (GO:0044429)	2.92	3	AUH, TAZ, DNAJC19
mitochondrion (GO:0005739)	2.42	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3
organelle membrane (GO:0031090)	1.97	2	TAZ, DNAJC19
integral component of membrane (GO:0016021)	1.14	3	SERAC1, DNAJC19, TAZ
intrinsic component of membrane (GO:0031224)	1.13	3	SERAC1, DNAJC19, TAZ
membrane part (GO:0044425)	0.95	3	SERAC1, DNAJC19, TAZ
cytoplasmic part (GO:0044444)	0.82	6	TAZ, DNAJC19, CLPB, AUH, SERAC1, OPA3

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NET-GE enrichment

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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

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