Gene table of CSTB : cystatin B

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CSTB	OMIM link	Number of associated genes	genes
PS254800	EPILEPSY, PROGRESSIVE MYOCLONIC	ClinVar, OMIM, HUMSAVAR	link to OMIM	12	CERS1, PRICKLE1, KCTD7, SCARB2, CSTB, TBC1D24, PRDM8, LMNB2, NHLRC1, KCNC1, GOSR2, EPM2A

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
peptidase inhibitor activity	GO:0030414	4.55
protein binding	GO:0005515	0.46
organic cyclic compound binding	GO:0097159	1.05
enzyme regulator activity	GO:0030234	2.85
peptidase regulator activity	GO:0061134	4.37
poly(A) RNA binding	GO:0044822	2.69
enzyme binding	GO:0019899	2.27
endopeptidase regulator activity	GO:0061135	4.57
protease binding	GO:0002020	5.08
binding	GO:0005488	0.18
endopeptidase inhibitor activity	GO:0004866	4.6
cysteine-type endopeptidase inhibitor activity	GO:0004869	5.71
enzyme inhibitor activity	GO:0004857	3.78
molecular function regulator	GO:0098772	2.51
heterocyclic compound binding	GO:1901363	1.06
nucleic acid binding	GO:0003676	1.44
RNA binding	GO:0003723	2.36