Gene table of ABHD5 : abhydrolase domain containing 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ABHD5	OMIM link	Number of associated genes	genes
275630	CHANARIN-DORFMAN SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ABHD5

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

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79
Metabolism	R-HSA-1430728	2.34
Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis	R-HSA-163560	8.66
Lipid digestion, mobilization, and transport	R-HSA-73923	7.2

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
triglyceride lipase activity	GO:0004806	6.74
carboxylic ester hydrolase activity	GO:0052689	4.81
1-acylglycerol-3-phosphate O-acyltransferase activity	GO:0003841	6.79
hydrolase activity, acting on ester bonds	GO:0016788	3.1
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
lysophospholipid acyltransferase activity	GO:0071617	6.74
lysophosphatidic acid acyltransferase activity	GO:0042171	6.74
acylglycerol O-acyltransferase activity	GO:0016411	6.41
O-acyltransferase activity	GO:0008374	5.85
transferase activity, transferring acyl groups	GO:0016746	4.2
peptidase activity	GO:0008233	3.23
lipase activity	GO:0016298	4.96
transferase activity, transferring acyl groups other than amino-acyl groups	GO:0016747	4.37