DAR - Bologna Biocomputing Group

Search summary (Disease ID: MONDO:0100062)

Number of enzymes:	2
Number of disease:	1
Number of reactomes:	8
Number of reactions:	12

Search results (Disease ID: MONDO:0100062)

DiseaseID	Gene	UniProt	EC numbers	Reactomes	Expanded Reactomes	Reactome roots	Reactions
MONDO:0100062	CASK	O14936	2.7.11.1	R-HSA-9662361 R-HSA-9662361 Reactome Name: Sensory processing of sound by outer hair cells of the cochlea See in Reactome R-HSA-9662360 R-HSA-9662360 Reactome Name: Sensory processing of sound by inner hair cells of the cochlea See in Reactome R-HSA-212676 R-HSA-212676 Reactome Name: Dopamine Neurotransmitter Release Cycle See in Reactome R-HSA-6794361 R-HSA-6794361 Reactome Name: Neurexins and neuroligins See in Reactome R-HSA-3000170 R-HSA-3000170 Reactome Name: Syndecan interactions See in Reactome R-HSA-373753 R-HSA-373753 Reactome Name: Nephrin family interactions See in Reactome R-HSA-9609736 R-HSA-9609736 Reactome Name: Assembly and cell surface presentation of NMDA receptors See in Reactome	R-HSA-9659379 R-HSA-9659379 Reactome Name: Sensory processing of sound See in Reactome R-HSA-1500931 R-HSA-1500931 Reactome Name: Cell-Cell communication See in Reactome R-HSA-9709957 R-HSA-9709957 Reactome Name: Sensory Perception See in Reactome R-HSA-1474244 R-HSA-1474244 Reactome Name: Extracellular matrix organization See in Reactome R-HSA-6794362 R-HSA-6794362 Reactome Name: Protein-protein interactions at synapses See in Reactome R-HSA-3000171 R-HSA-3000171 Reactome Name: Non-integrin membrane-ECM interactions See in Reactome R-HSA-112316 R-HSA-112316 Reactome Name: Neuronal System See in Reactome R-HSA-442755 R-HSA-442755 Reactome Name: Activation of NMDA receptors and postsynaptic events See in Reactome R-HSA-112314 R-HSA-112314 Reactome Name: Neurotransmitter receptors and postsynaptic signal transmission 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	Cell-Cell communication Sensory Perception Extracellular matrix organization Neuronal System	R-HSA-2750181 ( R-HSA-3000170 ) R-HSA-2750181 Reaction Name: Syndecan-2 binds CASK See in Reactome R-HSA-373722 ( R-HSA-373753 ) R-HSA-373722 Reaction Name: Nephrin binds CASK See in Reactome R-HSA-380574 ( R-HSA-212676 ) R-HSA-380574 Reaction Name: Dopamine synaptic vesicle docking and priming See in Reactome R-HSA-5336443 ( R-HSA-212676 ) R-HSA-5336443 Reaction Name: LIN7, CASK and APBA1 bind See in Reactome R-HSA-6794352 ( R-HSA-6794361 ) R-HSA-6794352 Reaction Name: NRXNs binds CASK tripartite complex See in Reactome R-HSA-6797553 ( R-HSA-6794361 ) R-HSA-6797553 Reaction Name: Protein 4.1 binds CASK See in Reactome R-HSA-6797568 ( R-HSA-6794361 ) R-HSA-6797568 Reaction Name: NRXNs bind CASK:Protein 4.1 See in Reactome R-HSA-9610408 ( R-HSA-9609736 ) R-HSA-9610408 Reaction Name: GluN1:GluN2B (GRIN1:GRIN2B) di-heterotetramers bind LIN7:CASK:APBA1, DLG1 and KIF17 See in Reactome R-HSA-9610627 ( R-HSA-9609736 ) R-HSA-9610627 Reaction Name: KIF17 transports GluN1:GluN2B (GRIN1:GRIN2B) NMDA receptors to the plasma membrane See in Reactome R-HSA-9659380 ( R-HSA-9662360 ) R-HSA-9659380 Reaction Name: Mechanoelectrical transduction (MET) channel transports cations from the extracellular region into the cytosol of stereocilia of inner hair cell See in Reactome R-HSA-9663363 ( R-HSA-9662361 ) R-HSA-9663363 Reaction Name: Mechanoelectrical transduction (MET) channel transports cations into the cytosol of stereocilia of cochlear outer hair cell See in Reactome
MONDO:0100062	TRIM8	Q9BZR9	2.3.2.27	R-HSA-877300 R-HSA-877300 Reactome Name: Interferon gamma signaling See in Reactome	R-HSA-1280215 R-HSA-1280215 Reactome Name: Cytokine Signaling in Immune system See in Reactome R-HSA-913531 R-HSA-913531 Reactome Name: Interferon Signaling See in Reactome R-HSA-168256 R-HSA-168256 Reactome Name: Immune System See in Reactome	Immune System	R-HSA-1031716 ( R-HSA-877300 ) R-HSA-1031716 Reaction Name: Expression of IFNG-stimulated genes See in Reactome