Gene table of PYGM : glycogen phosphorylase, muscle associated

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PYGM	OMIM link	Number of associated genes	genes
232600	GLYCOGEN STORAGE DISEASE V	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PYGM

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

KEGG pathway	KEGG ID	KEGG IC
Metabolic pathways	hsa01100	2.49
Insulin signaling pathway	hsa04910	5.55
Starch and sucrose metabolism	hsa00500	6.91

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Glucose metabolism	R-HSA-70326	6.77
Metabolism	R-HSA-1430728	2.34
Metabolism of carbohydrates	R-HSA-71387	4.93
Glycogen breakdown (glycogenolysis)	R-HSA-70221	9.08

Associated GO terms for Molecular function

GO term	GO ID	GO IC
carbohydrate binding	GO:0030246	4.17
drug binding	GO:0008144	5.03
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
anion binding	GO:0043168	4.17
glycogen phosphorylase activity	GO:0008184	8.64
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
protein binding	GO:0005515	0.46
AMP binding	GO:0016208	7.44
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
phosphorylase activity	GO:0004645	7.95
adenyl ribonucleotide binding	GO:0032559	2.41
transferase activity, transferring glycosyl groups	GO:0016757	4.08
purine ribonucleotide binding	GO:0032555	2.2
transferase activity, transferring hexosyl groups	GO:0016758	4.43
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
pyridoxal phosphate binding	GO:0030170	5.83