Gene table of ABHD12 : abhydrolase domain containing 12

Gene-disease associations table

Disease IDDisease nameSource of annotation with ABHD12OMIM linkNumber of associated genesgenes
612674POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACTClinVar, OMIM link to OMIM 1ABHD12

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Annotation of the gene ABHD12

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 termGO IDGO IC
hydrolase activityGO:00167871.9
carboxylic ester hydrolase activityGO:00526894.81
catalytic activityGO:00038241.05
hydrolase activity, acting on ester bondsGO:00167883.1
lipase activityGO:00162984.96
acylglycerol lipase activityGO:00473727.44