BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	EVC
Symbol Alias	DWF-1
Approved Name	Ellis van Creveld syndrome
Location	4p16
Position	chr4:5711197-5814305, 1
External Links	HGNC: 3497 Entrez Gene: 2121 Ensembl: ENSG00000072840 UCSC: uc003gil.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgi, B., 2014	SNP: rs16837598	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

GO terms by PBA (count: 1)

GO terms by database search (count: 10)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 4	chr4:0-190214555	3 (0/3/0)
4p16	chr4:0-11300000	2 (0/1/1)
4p	chr4:0-50000000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr4:5711197..5814305 View in gBrowse