Gene table of SBF1 : SET binding factor 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SBF1	OMIM link	Number of associated genes	genes
PS118220	CHARCOT-MARIE-TOOTH DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	48	KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, RAB7A, LMNA, VCP, GDAP1, AIFM1, MORC2, SH3TC2, TRIM2, JPH1, PLEKHG5, DNM2, NAGLU, MTMR2, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, NEFH, NDRG1, MARS, SBF2, IGHMBP2, NEFL, EGR2, AARS, COX6A1, PDK3, DHTKD1, HK1, GJB1, LRSAM1, PRX, TRPV4, LITAF, MFN2, YARS, GARS

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
Ras guanyl-nucleotide exchange factor activity	GO:0005088	4.31
phosphatase activity	GO:0016791	4.11
protein tyrosine/serine/threonine phosphatase activity	GO:0008138	5.91
hydrolase activity	GO:0016787	1.9
Rab guanyl-nucleotide exchange factor activity	GO:0017112	6.34
enzyme regulator activity	GO:0030234	2.85
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
phosphoprotein phosphatase activity	GO:0004721	4.55
phosphoric ester hydrolase activity	GO:0042578	3.82
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on ester bonds	GO:0016788	3.1
molecular function regulator	GO:0098772	2.51
phosphatase regulator activity	GO:0019208	5.26