DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0016215)

Number of enzymes:	1
Number of disease:	1
Number of reactomes:	3
Number of reactions:	5

Search results (Disease ID: MONDO:0016215)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0016215	GAD1	Q99259	4.1.1.15	R-HSA-888568 R-HSA-888568 Reactome Name: GABA synthesis See in Reactome R-HSA-888590 R-HSA-888590 Reactome Name: GABA synthesis, release, reuptake and degradation See in Reactome R-HSA-9022927 R-HSA-9022927 Reactome Name: MECP2 regulates transcription of genes involved in GABA signaling See in Reactome	R-HSA-212436 R-HSA-212436 Reactome Name: Generic Transcription Pathway See in Reactome R-HSA-74160 R-HSA-74160 Reactome Name: Gene expression (Transcription) See in Reactome R-HSA-8986944 R-HSA-8986944 Reactome Name: Transcriptional Regulation by MECP2 See in Reactome R-HSA-112316 R-HSA-112316 Reactome Name: Neuronal System See in Reactome R-HSA-112315 R-HSA-112315 Reactome Name: Transmission across Chemical Synapses See in Reactome R-HSA-112310 R-HSA-112310 Reactome Name: Neurotransmitter release cycle See in Reactome R-HSA-73857 R-HSA-73857 Reactome Name: RNA Polymerase II Transcription See in Reactome	Gene expression (Transcription) Neuronal System	R-HSA-888572 ( R-HSA-888568; R-HSA-888590 ) R-HSA-888572 Reaction Name: PXLP-K405-GAD1 decarboxylates L-Glu to form GABA See in Reactome R-HSA-888577 ( R-HSA-888568; R-HSA-888590 ) R-HSA-888577 Reaction Name: Synthesis of GABA by GAD2 See in Reactome R-HSA-888589 ( R-HSA-888590 ) R-HSA-888589 Reaction Name: Release of GABA at the synapse See in Reactome R-HSA-9022934 ( R-HSA-9022927 ) R-HSA-9022934 Reaction Name: GAD1 gene expression is stimulated by MECP2 See in Reactome R-HSA-917744 ( R-HSA-888590 ) R-HSA-917744 Reaction Name: GABA loaded synaptic vesicle Docking and Priming See in Reactome