Gene table of PDE6C : phosphodiesterase 6C

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PDE6C	OMIM link	Number of associated genes	genes
613093	CONE DYSTROPHY 4	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	PDE6C

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
Purine metabolism	hsa00230	5.28

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
3',5'-cyclic-nucleotide phosphodiesterase activity	GO:0004114	6.52
cyclic-nucleotide phosphodiesterase activity	GO:0004112	6.48
phosphoric ester hydrolase activity	GO:0042578	3.82
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
cation binding	GO:0043169	1.4
phosphoric diester hydrolase activity	GO:0008081	5.23
ion binding	GO:0043167	1.36
guanyl ribonucleotide binding	GO:0032561	3.73
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
3',5'-cyclic-GMP phosphodiesterase activity	GO:0047555	7.1
hydrolase activity	GO:0016787	1.9
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cGMP binding	GO:0030553	6.97
cyclic nucleotide binding	GO:0030551	6.13
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
guanyl nucleotide binding	GO:0019001	3.73
purine ribonucleotide binding	GO:0032555	2.2
ribonucleotide binding	GO:0032553	2.19