MONDO:0001595 |
MONDO:0001595
Disease Name: choreatic disease
OMIM id: OMIM:215450
Orphanet id: Orphanet:1429
All associated enzymes in DAR:
ADCY5
. The disease is also associated to other non-enzyme proteins (not in DAR).
ADCY5 |
O95622 |
4.6.1.1
|
R-HSA-170670
R-HSA-170670
Reactome Name: Adenylate cyclase inhibitory pathway
See in Reactome
R-HSA-163615
R-HSA-170660
R-HSA-170660
Reactome Name: Adenylate cyclase activating pathway
See in Reactome
R-HSA-400042
R-HSA-400042
Reactome Name: Adrenaline,noradrenaline inhibits insulin secretion
See in Reactome
R-HSA-164378
R-HSA-164378
Reactome Name: PKA activation in glucagon signalling
See in Reactome
R-HSA-418597
R-HSA-381676
R-HSA-381676
Reactome Name: Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
See in Reactome
R-HSA-418594
R-HSA-5610787
R-HSA-432040
R-HSA-432040
Reactome Name: Vasopressin regulates renal water homeostasis via Aquaporins
See in Reactome
R-HSA-418555
R-HSA-163359
R-HSA-163359
Reactome Name: Glucagon signaling in metabolic regulation
See in Reactome
|
R-HSA-1489509
R-HSA-111997
R-HSA-111996
R-HSA-382551
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-1430728
R-HSA-5358351
R-HSA-111933
R-HSA-111931
R-HSA-111931
Reactome Name: PKA-mediated phosphorylation of CREB
See in Reactome
R-HSA-977443
R-HSA-977444
R-HSA-112316
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-388396
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-445717
R-HSA-991365
R-HSA-112043
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-372790
R-HSA-112040
R-HSA-111885
R-HSA-162582
|
Transport of small molecules
Metabolism
Neuronal System
Signal Transduction
|
R-HSA-111930
(
R-HSA-163615;
R-HSA-418594
)
R-HSA-111930
Reaction Name: Adenylate cyclase produces cAMP
See in Reactome
R-HSA-163617
(
R-HSA-163359;
R-HSA-418555;
R-HSA-432040
)
R-HSA-163617
Reaction Name: G alpha (s) activates adenylate cyclase
See in Reactome
R-HSA-164377
(
R-HSA-163359;
R-HSA-164378;
R-HSA-432040
)
R-HSA-164377
Reaction Name: Activated Adenylate cyclase catalyses cAMP synthesis
See in Reactome
R-HSA-170666
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170666
Reaction Name: Adenylate cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170671
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170671
Reaction Name: G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex
See in Reactome
R-HSA-170672
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170672
Reaction Name: Galpha-olf:GTP binds to adenylate cyclase and activates it
See in Reactome
R-HSA-170674
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170674
Reaction Name: Dissociation of the Gi alpha:G olf complex
See in Reactome
R-HSA-170676
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170676
Reaction Name: Adenylate cyclase converts ATP into cyclic AMP
See in Reactome
R-HSA-170677
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170677
Reaction Name: The G alpha-olf:GDP:Adenylate cyclase complex dissociates
See in Reactome
R-HSA-170685
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170685
Reaction Name: Adenylaye cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170686
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170686
Reaction Name: Adenylate cyclase increases the GTPase activity of Gi alpha
See in Reactome
R-HSA-381607
(
R-HSA-381676
)
R-HSA-381607
Reaction Name: Activated Adenylyl cyclase synthesizes cyclic AMP
See in Reactome
R-HSA-381704
(
R-HSA-163359;
R-HSA-381676
)
R-HSA-381704
Reaction Name: G(s):GTP activates Adenylyl cyclase
See in Reactome
R-HSA-392064
(
R-HSA-418597
)
R-HSA-392064
Reaction Name: G alpha (z) inhibits adenylate cyclase
See in Reactome
R-HSA-392129
(
R-HSA-418555;
R-HSA-418594;
R-HSA-418597
)
R-HSA-392129
Reaction Name: Adenylate cyclase converts ATP to 3',5'-cyclic AMP (cAMP) and pyrophosphate
See in Reactome
R-HSA-392206
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-392206
Reaction Name: G alpha (i) inhibits adenylate cyclase
See in Reactome
R-HSA-400097
(
R-HSA-400042
)
R-HSA-400097
Reaction Name: G-beta:G-gamma inhibits Adenylate cyclase
See in Reactome
R-HSA-5610727
(
R-HSA-5610787
)
R-HSA-5610727
Reaction Name: GPR161 promotes cAMP production in a G alpha(s)-dependent manner
See in Reactome
|
MONDO:0011707 |
ADCY5 |
O95622 |
4.6.1.1
|
R-HSA-170670
R-HSA-170670
Reactome Name: Adenylate cyclase inhibitory pathway
See in Reactome
R-HSA-163615
R-HSA-170660
R-HSA-170660
Reactome Name: Adenylate cyclase activating pathway
See in Reactome
R-HSA-400042
R-HSA-400042
Reactome Name: Adrenaline,noradrenaline inhibits insulin secretion
See in Reactome
R-HSA-164378
R-HSA-164378
Reactome Name: PKA activation in glucagon signalling
See in Reactome
R-HSA-418597
R-HSA-381676
R-HSA-381676
Reactome Name: Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
See in Reactome
R-HSA-418594
R-HSA-5610787
R-HSA-432040
R-HSA-432040
Reactome Name: Vasopressin regulates renal water homeostasis via Aquaporins
See in Reactome
R-HSA-418555
R-HSA-163359
R-HSA-163359
Reactome Name: Glucagon signaling in metabolic regulation
See in Reactome
|
R-HSA-1489509
R-HSA-111997
R-HSA-111996
R-HSA-382551
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-1430728
R-HSA-5358351
R-HSA-111933
R-HSA-111931
R-HSA-111931
Reactome Name: PKA-mediated phosphorylation of CREB
See in Reactome
R-HSA-977443
R-HSA-977444
R-HSA-112316
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-388396
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-445717
R-HSA-991365
R-HSA-112043
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-372790
R-HSA-112040
R-HSA-111885
R-HSA-162582
|
Transport of small molecules
Metabolism
Neuronal System
Signal Transduction
|
R-HSA-111930
(
R-HSA-163615;
R-HSA-418594
)
R-HSA-111930
Reaction Name: Adenylate cyclase produces cAMP
See in Reactome
R-HSA-163617
(
R-HSA-163359;
R-HSA-418555;
R-HSA-432040
)
R-HSA-163617
Reaction Name: G alpha (s) activates adenylate cyclase
See in Reactome
R-HSA-164377
(
R-HSA-163359;
R-HSA-164378;
R-HSA-432040
)
R-HSA-164377
Reaction Name: Activated Adenylate cyclase catalyses cAMP synthesis
See in Reactome
R-HSA-170666
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170666
Reaction Name: Adenylate cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170671
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170671
Reaction Name: G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex
See in Reactome
R-HSA-170672
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170672
Reaction Name: Galpha-olf:GTP binds to adenylate cyclase and activates it
See in Reactome
R-HSA-170674
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170674
Reaction Name: Dissociation of the Gi alpha:G olf complex
See in Reactome
R-HSA-170676
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170676
Reaction Name: Adenylate cyclase converts ATP into cyclic AMP
See in Reactome
R-HSA-170677
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170677
Reaction Name: The G alpha-olf:GDP:Adenylate cyclase complex dissociates
See in Reactome
R-HSA-170685
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170685
Reaction Name: Adenylaye cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170686
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170686
Reaction Name: Adenylate cyclase increases the GTPase activity of Gi alpha
See in Reactome
R-HSA-381607
(
R-HSA-381676
)
R-HSA-381607
Reaction Name: Activated Adenylyl cyclase synthesizes cyclic AMP
See in Reactome
R-HSA-381704
(
R-HSA-163359;
R-HSA-381676
)
R-HSA-381704
Reaction Name: G(s):GTP activates Adenylyl cyclase
See in Reactome
R-HSA-392064
(
R-HSA-418597
)
R-HSA-392064
Reaction Name: G alpha (z) inhibits adenylate cyclase
See in Reactome
R-HSA-392129
(
R-HSA-418555;
R-HSA-418594;
R-HSA-418597
)
R-HSA-392129
Reaction Name: Adenylate cyclase converts ATP to 3',5'-cyclic AMP (cAMP) and pyrophosphate
See in Reactome
R-HSA-392206
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-392206
Reaction Name: G alpha (i) inhibits adenylate cyclase
See in Reactome
R-HSA-400097
(
R-HSA-400042
)
R-HSA-400097
Reaction Name: G-beta:G-gamma inhibits Adenylate cyclase
See in Reactome
R-HSA-5610727
(
R-HSA-5610787
)
R-HSA-5610727
Reaction Name: GPR161 promotes cAMP production in a G alpha(s)-dependent manner
See in Reactome
|
MONDO:0014570 |
ADCY6 |
O43306 |
4.6.1.1
|
R-HSA-170670
R-HSA-170670
Reactome Name: Adenylate cyclase inhibitory pathway
See in Reactome
R-HSA-163615
R-HSA-170660
R-HSA-170660
Reactome Name: Adenylate cyclase activating pathway
See in Reactome
R-HSA-400042
R-HSA-400042
Reactome Name: Adrenaline,noradrenaline inhibits insulin secretion
See in Reactome
R-HSA-164378
R-HSA-164378
Reactome Name: PKA activation in glucagon signalling
See in Reactome
R-HSA-418597
R-HSA-381676
R-HSA-381676
Reactome Name: Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
See in Reactome
R-HSA-418594
R-HSA-5610787
R-HSA-432040
R-HSA-432040
Reactome Name: Vasopressin regulates renal water homeostasis via Aquaporins
See in Reactome
R-HSA-418555
R-HSA-163359
R-HSA-163359
Reactome Name: Glucagon signaling in metabolic regulation
See in Reactome
|
R-HSA-1489509
R-HSA-111997
R-HSA-111996
R-HSA-382551
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-1430728
R-HSA-5358351
R-HSA-111933
R-HSA-111931
R-HSA-111931
Reactome Name: PKA-mediated phosphorylation of CREB
See in Reactome
R-HSA-977443
R-HSA-977444
R-HSA-112316
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-388396
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-445717
R-HSA-991365
R-HSA-112043
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-372790
R-HSA-112040
R-HSA-111885
R-HSA-162582
|
Transport of small molecules
Metabolism
Neuronal System
Signal Transduction
|
R-HSA-111930
(
R-HSA-163615;
R-HSA-418594
)
R-HSA-111930
Reaction Name: Adenylate cyclase produces cAMP
See in Reactome
R-HSA-163617
(
R-HSA-163359;
R-HSA-418555;
R-HSA-432040
)
R-HSA-163617
Reaction Name: G alpha (s) activates adenylate cyclase
See in Reactome
R-HSA-164377
(
R-HSA-163359;
R-HSA-164378;
R-HSA-432040
)
R-HSA-164377
Reaction Name: Activated Adenylate cyclase catalyses cAMP synthesis
See in Reactome
R-HSA-170666
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170666
Reaction Name: Adenylate cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170671
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170671
Reaction Name: G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex
See in Reactome
R-HSA-170672
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170672
Reaction Name: Galpha-olf:GTP binds to adenylate cyclase and activates it
See in Reactome
R-HSA-170674
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170674
Reaction Name: Dissociation of the Gi alpha:G olf complex
See in Reactome
R-HSA-170676
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170676
Reaction Name: Adenylate cyclase converts ATP into cyclic AMP
See in Reactome
R-HSA-170677
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170677
Reaction Name: The G alpha-olf:GDP:Adenylate cyclase complex dissociates
See in Reactome
R-HSA-170685
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170685
Reaction Name: Adenylaye cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170686
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170686
Reaction Name: Adenylate cyclase increases the GTPase activity of Gi alpha
See in Reactome
R-HSA-381607
(
R-HSA-381676
)
R-HSA-381607
Reaction Name: Activated Adenylyl cyclase synthesizes cyclic AMP
See in Reactome
R-HSA-381704
(
R-HSA-163359;
R-HSA-381676
)
R-HSA-381704
Reaction Name: G(s):GTP activates Adenylyl cyclase
See in Reactome
R-HSA-392064
(
R-HSA-418597
)
R-HSA-392064
Reaction Name: G alpha (z) inhibits adenylate cyclase
See in Reactome
R-HSA-392129
(
R-HSA-418555;
R-HSA-418594;
R-HSA-418597
)
R-HSA-392129
Reaction Name: Adenylate cyclase converts ATP to 3',5'-cyclic AMP (cAMP) and pyrophosphate
See in Reactome
R-HSA-392206
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-392206
Reaction Name: G alpha (i) inhibits adenylate cyclase
See in Reactome
R-HSA-400097
(
R-HSA-400042
)
R-HSA-400097
Reaction Name: G-beta:G-gamma inhibits Adenylate cyclase
See in Reactome
R-HSA-5610727
(
R-HSA-5610787
)
R-HSA-5610727
Reaction Name: GPR161 promotes cAMP production in a G alpha(s)-dependent manner
See in Reactome
|
OMIM:619647 |
ADCY5 |
O95622 |
4.6.1.1
|
R-HSA-170670
R-HSA-170670
Reactome Name: Adenylate cyclase inhibitory pathway
See in Reactome
R-HSA-163615
R-HSA-170660
R-HSA-170660
Reactome Name: Adenylate cyclase activating pathway
See in Reactome
R-HSA-400042
R-HSA-400042
Reactome Name: Adrenaline,noradrenaline inhibits insulin secretion
See in Reactome
R-HSA-164378
R-HSA-164378
Reactome Name: PKA activation in glucagon signalling
See in Reactome
R-HSA-418597
R-HSA-381676
R-HSA-381676
Reactome Name: Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
See in Reactome
R-HSA-418594
R-HSA-5610787
R-HSA-432040
R-HSA-432040
Reactome Name: Vasopressin regulates renal water homeostasis via Aquaporins
See in Reactome
R-HSA-418555
R-HSA-163359
R-HSA-163359
Reactome Name: Glucagon signaling in metabolic regulation
See in Reactome
|
R-HSA-1489509
R-HSA-111997
R-HSA-111996
R-HSA-382551
R-HSA-9006925
R-HSA-9006925
Reactome Name: Intracellular signaling by second messengers
See in Reactome
R-HSA-1430728
R-HSA-5358351
R-HSA-111933
R-HSA-111931
R-HSA-111931
Reactome Name: PKA-mediated phosphorylation of CREB
See in Reactome
R-HSA-977443
R-HSA-977444
R-HSA-112316
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-388396
R-HSA-163685
R-HSA-163685
Reactome Name: Integration of energy metabolism
See in Reactome
R-HSA-445717
R-HSA-991365
R-HSA-112043
R-HSA-422356
R-HSA-422356
Reactome Name: Regulation of insulin secretion
See in Reactome
R-HSA-372790
R-HSA-112040
R-HSA-111885
R-HSA-162582
|
Transport of small molecules
Metabolism
Neuronal System
Signal Transduction
|
R-HSA-111930
(
R-HSA-163615;
R-HSA-418594
)
R-HSA-111930
Reaction Name: Adenylate cyclase produces cAMP
See in Reactome
R-HSA-163617
(
R-HSA-163359;
R-HSA-418555;
R-HSA-432040
)
R-HSA-163617
Reaction Name: G alpha (s) activates adenylate cyclase
See in Reactome
R-HSA-164377
(
R-HSA-163359;
R-HSA-164378;
R-HSA-432040
)
R-HSA-164377
Reaction Name: Activated Adenylate cyclase catalyses cAMP synthesis
See in Reactome
R-HSA-170666
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170666
Reaction Name: Adenylate cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170671
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170671
Reaction Name: G alpha-olf:GTP binds to Gi alpha1:GTP:adenylate cyclase complex
See in Reactome
R-HSA-170672
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170672
Reaction Name: Galpha-olf:GTP binds to adenylate cyclase and activates it
See in Reactome
R-HSA-170674
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170674
Reaction Name: Dissociation of the Gi alpha:G olf complex
See in Reactome
R-HSA-170676
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170676
Reaction Name: Adenylate cyclase converts ATP into cyclic AMP
See in Reactome
R-HSA-170677
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170677
Reaction Name: The G alpha-olf:GDP:Adenylate cyclase complex dissociates
See in Reactome
R-HSA-170685
(
R-HSA-170660;
R-HSA-418594
)
R-HSA-170685
Reaction Name: Adenylaye cyclase increases the GTPase activity of G alpha-olf
See in Reactome
R-HSA-170686
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-170686
Reaction Name: Adenylate cyclase increases the GTPase activity of Gi alpha
See in Reactome
R-HSA-381607
(
R-HSA-381676
)
R-HSA-381607
Reaction Name: Activated Adenylyl cyclase synthesizes cyclic AMP
See in Reactome
R-HSA-381704
(
R-HSA-163359;
R-HSA-381676
)
R-HSA-381704
Reaction Name: G(s):GTP activates Adenylyl cyclase
See in Reactome
R-HSA-392064
(
R-HSA-418597
)
R-HSA-392064
Reaction Name: G alpha (z) inhibits adenylate cyclase
See in Reactome
R-HSA-392129
(
R-HSA-418555;
R-HSA-418594;
R-HSA-418597
)
R-HSA-392129
Reaction Name: Adenylate cyclase converts ATP to 3',5'-cyclic AMP (cAMP) and pyrophosphate
See in Reactome
R-HSA-392206
(
R-HSA-170670;
R-HSA-418594
)
R-HSA-392206
Reaction Name: G alpha (i) inhibits adenylate cyclase
See in Reactome
R-HSA-400097
(
R-HSA-400042
)
R-HSA-400097
Reaction Name: G-beta:G-gamma inhibits Adenylate cyclase
See in Reactome
R-HSA-5610727
(
R-HSA-5610787
)
R-HSA-5610727
Reaction Name: GPR161 promotes cAMP production in a G alpha(s)-dependent manner
See in Reactome
|