Disease table of STUTTERING, FAMILIAL PERSISTENT OMIM ID: PS184450

Gene-disease associations table

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Gene	Associated with STUTTERING, FAMILIAL PERSISTENT in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AP4E1	ClinVar, OMIM	HGNC link	15q21.2	2	PS184450, PS303350
NAGPA	ClinVar	HGNC link	16p13.3	1	PS184450

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Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

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Gene1	Gene2	Direct interaction	More information
AP4E1	NAGPA	yes, maybe indirect	Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1); AP4M1 interacts with NAGPA. [UniProt]

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KEGG pathways annotation: shared terms / NET-GE enrichment

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Lysosome	hsa04142	5.78	2	NAGPA, AP4E1

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Term	New enriched term	IC	P value	Genes
Lysosome (hsa04142)	-	5.78	0.001	NAGPA, AP4E1
Transport and catabolism	NEW	3.49	0.032	NAGPA, AP4E1

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REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

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

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

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GO	IC	Number of genes with the same GO	Genes
intracellular protein transport (GO:0006886)	3.2	2	AP4E1, NAGPA
intracellular transport (GO:0046907)	2.67	2	AP4E1, NAGPA
protein transport (GO:0015031)	2.62	2	AP4E1, NAGPA
establishment of protein localization (GO:0045184)	2.53	2	AP4E1, NAGPA
establishment of localization in cell (GO:0051649)	2.47	2	AP4E1, NAGPA
protein localization (GO:0008104)	2.36	2	NAGPA, AP4E1
macromolecule localization (GO:0033036)	2.34	2	AP4E1, NAGPA
cellular localization (GO:0051641)	2.32	2	NAGPA, AP4E1
organic substance transport (GO:0071702)	2.15	2	NAGPA, AP4E1
transport (GO:0006810)	1.51	2	NAGPA, AP4E1

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

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GO	IC	Number of genes with the same GO	Genes
Golgi membrane (GO:0000139)	3.28	2	NAGPA, AP4E1
Golgi apparatus part (GO:0044431)	3.0	2	AP4E1, NAGPA
Golgi apparatus (GO:0005794)	2.7	2	AP4E1, NAGPA
bounding membrane of organelle (GO:0098588)	2.39	2	AP4E1, NAGPA
organelle membrane (GO:0031090)	1.97	2	NAGPA, AP4E1
integral component of membrane (GO:0016021)	1.14	2	AP4E1, NAGPA
intrinsic component of membrane (GO:0031224)	1.13	2	NAGPA, AP4E1
membrane part (GO:0044425)	0.95	2	NAGPA, AP4E1
cytoplasmic part (GO:0044444)	0.82	2	AP4E1, NAGPA
intracellular organelle part (GO:0044446)	0.81	2	NAGPA, AP4E1

Showing 1 to 10 of 18 entries