Disease table of MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I OMIM ID: 210710

Gene-disease associations table

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Gene	Associated with MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
CLASP1	ClinVar	HGNC link	2q14.3	1	210710
RNU4ATAC	ClinVar, OMIM	HGNC link	2q14.2	2	616651, 210710

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Tandem repeat annotations from DGD

Cytogenetic band analysis

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
2q14	2	RNU4ATAC, CLASP1

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
2q1	2	RNU4ATAC, CLASP1

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
2q	2	RNU4ATAC, CLASP1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
2	2	RNU4ATAC, CLASP1

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

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

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 / NET-GE enrichment (no shared terms)

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