Chromosomal Duplication Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Chromosomal Duplication Syndrome

MalaCards integrated aliases for Chromosomal Duplication Syndrome:

Name: Chromosomal Duplication Syndrome ¹² ¹⁵

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060429

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Summaries for Chromosomal Duplication Syndrome

MalaCards based summary : Chromosomal Duplication Syndrome is related to chromosome 8q22.1 duplication syndrome and potocki-lupski syndrome. An important gene associated with Chromosomal Duplication Syndrome is TUBA8 (Tubulin Alpha 8), and among its related pathways/superpathways are RAB GEFs exchange GTP for GDP on RABs and Lissencephaly gene (LIS1) in neuronal migration and development.

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Related Diseases for Chromosomal Duplication Syndrome

Diseases related to Chromosomal Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	chromosome 8q22.1 duplication syndrome	10.9
2	potocki-lupski syndrome	10.8
3	partial trisomy distal 4q	10.8
4	chromosome 17p13.3, centromeric, duplication syndrome	9.8	PAFAH1B1 YWHAE
5	miller-dieker lissencephaly syndrome	9.7	PAFAH1B1 YWHAE
6	lissencephaly	9.4	PAFAH1B1 YWHAE

Graphical network of the top 20 diseases related to Chromosomal Duplication Syndrome:

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Symptoms & Phenotypes for Chromosomal Duplication Syndrome

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Drugs & Therapeutics for Chromosomal Duplication Syndrome

Search Clinical Trials , NIH Clinical Center for Chromosomal Duplication Syndrome

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Genetic Tests for Chromosomal Duplication Syndrome

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Anatomical Context for Chromosomal Duplication Syndrome

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Publications for Chromosomal Duplication Syndrome

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Genes for Chromosomal Duplication Syndrome

Genes related to Chromosomal Duplication Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TUBA8	Tubulin Alpha 8	Protein Coding	16.7	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	16.63	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	16.42	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	BDH1	3-Hydroxybutyrate Dehydrogenase 1	Protein Coding	16.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	NIPBL	NIPBL, Cohesin Loading Factor	Protein Coding	15.83	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	15.79	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)

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Variations for Chromosomal Duplication Syndrome

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Expression for Chromosomal Duplication Syndrome

Search GEO for disease gene expression data for Chromosomal Duplication Syndrome.

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Pathways for Chromosomal Duplication Syndrome

Pathways related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	RAB GEFs exchange GTP for GDP on RABs ⁶⁶	10.91	RAB39B YWHAE
2	Lissencephaly gene (LIS1) in neuronal migration and development ¹	10.11	PAFAH1B1 YWHAE

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GO Terms for Chromosomal Duplication Syndrome

Cellular components related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	microtubule cytoskeleton	GO:0015630	9.26	PAFAH1B1 TUBA8
2	cytoplasmic vesicle membrane	GO:0030659	9.16	RAB39B YWHAE
3	kinesin complex	GO:0005871	8.96	PAFAH1B1 YWHAE
4	central region of growth cone	GO:0090724	8.62	PAFAH1B1 YWHAE

Biological processes related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	G2/M transition of mitotic cell cycle	GO:0000086	9.43	PAFAH1B1 YWHAE
2	neuron migration	GO:0001764	9.4	PAFAH1B1 YWHAE
3	microtubule cytoskeleton organization	GO:0000226	9.37	PAFAH1B1 TUBA8
4	ciliary basal body-plasma membrane docking	GO:0097711	9.32	PAFAH1B1 YWHAE
5	regulation of G2/M transition of mitotic cell cycle	GO:0010389	9.26	PAFAH1B1 YWHAE
6	cerebral cortex development	GO:0021987	9.16	PAFAH1B1 YWHAE
7	hippocampus development	GO:0021766	8.96	PAFAH1B1 YWHAE
8	microtubule-based process	GO:0007017	8.62	PAFAH1B1 TUBA8

Molecular functions related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	histone deacetylase binding	GO:0042826	8.96	NIPBL YWHAE
2	phosphoprotein binding	GO:0051219	8.62	PAFAH1B1 YWHAE

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Sources for Chromosomal Duplication Syndrome

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⁴⁸ NCBI Bookshelf

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