Gene table of BVES : blood vessel epicardial substance

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BVES	OMIM link	Number of associated genes	genes
PS253600	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE	ClinVar, OMIM	link to OMIM	24	SGCA, TCAP, SGCB, ISPD, BVES, POMK, POMT2, TRAPPC11, SGCD, TTN, FKTN, POMT1, TRIM32, LIMS2, ANO5, CAPN3, DYSF, FKRP, POMGNT1, SGCG, DAG1, GMPPB, DES, PLEC

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
cAMP binding	GO:0030552	6.56
cyclic nucleotide binding	GO:0030551	6.13
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
nucleoside phosphate binding	GO:1901265	1.96
nucleotide binding	GO:0000166	1.96
small molecule binding	GO:0036094	1.89
adenyl ribonucleotide binding	GO:0032559	2.41
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine nucleotide binding	GO:0017076	2.19
structural molecule activity	GO:0005198	3.1
heterocyclic compound binding	GO:1901363	1.06
ribonucleotide binding	GO:0032553	2.19