Dopamine-DARPP32 Feedback onto cAMP Pathway

No Pathway Network information available for Dopamine-DARPP32 Feedback onto cAMP Pathway

Pathways in the Dopamine-DARPP32 Feedback onto cAMP Pathway SuperPath

#NameSourceGenes
1Dopamine-DARPP32 Feedback onto cAMP PathwayQIAGEN
(see all 228) (see less)

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Dopamine-DARPP32 Feedback onto cAMP Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Long qt syndrome 1EnrichmentAKAP9, CACNA1C, CALM1, CALM2, CALM3, ITPR3, KCNE1, KCNE2, KCNH2, KCNJ5, KCNQ110.54
2Long qt syndromeEnrichmentAKAP9, CACNA1C, CACNA1S, CALM1, CALM2, KCNE1, KCNH2, KCNJ5, KCNQ18.87
3Familial atrial fibrillationEnrichmentKCNA5, KCNE1, KCNE2, KCNJ2, KCNJ3, KCNJ5, KCNQ17.03
4Brugada syndromeEnrichmentAKAP9, CACNA1C, CACNB2, KCND3, KCNE3, KCNH2, KCNJ86.76
5West syndromeEnrichmentCSNK1E, GRIA3, GRIN1, GRIN2B, KCNA2, KCNQ2, PLCB15.11
6Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, GRIA1, GRIN1, GRIN2B, KCNQ2, KCNQ5, PPP3CA4.73
7Developmental and epileptic encephalopathyEnrichmentCACNA1E, GRIA3, KCNB1, KCNC2, KCNH5, KCNQ24.57
8Congenital long qt syndromeEnrichmentITPR3, KCNE1, KCNH2, KCNQ14.46
9Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, GRIN2D, KCNA2, KCNB1, KCNC2, PPP3CA4.40
10Congenital short qt syndromeEnrichmentKCNH2, KCNJ2, KCNQ14.34
11Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.61
12Andersen cardiodysrhythmic periodic paralysisEnrichmentKCNJ2, KCNJ53.55
13Seizures, benign familial neonatal, 2EnrichmentKCNQ2, KCNQ33.55
14Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.55
15Jervell-lange nielsen syndromeEnrichmentKCNE1, KCNQ13.55
16Self-limited neonatal epilepsyEnrichmentKCNQ2, KCNQ33.55
17Developmental and epileptic encephalopathy 1EnrichmentCSNK1E, GRIN1, KCNA2, KCNQ23.13
18Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C3.08
19Melanoma of soft tissueEnrichmentATF1, CREB13.08
20Episodic kinesigenic dyskinesia 1EnrichmentKCNA1, KCNJ102.78
21Jervell and lange-nielsen syndrome 1EnrichmentKCNE1, KCNQ12.78
22Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB42.78
23Long qt syndrome 2EnrichmentKCNH2, KCNQ12.78
24Developmental and epileptic encephalopathy 12EnrichmentKCNH5, PLCB12.78
25Sudden infant death syndromeEnrichmentCALM2, KCNJ8, KCNQ12.57
26Self-limited infantile epilepsyEnrichmentKCNQ2, KCNQ32.57
27Cerebral palsyEnrichmentCACNA1A, CACNA1C, GNB1, GRIN2B2.39
28Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S, KCNE32.39
29HypertrichosisEnrichmentCREBBP, KCNJ112.39
30Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A, KCNQ3, PLCB12.32
31Attention deficit-hyperactivity disorderEnrichmentDRD4, DRD5, GNB52.24
32Centralopathic epilepsyEnrichmentGRIN1, GRIN2A, KCNQ3, PLCB12.24
33Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.03
34Developmental and epileptic encephalopathy 14EnrichmentKCNQ2, PLCB12.03
35Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS, GRIA4, KCNH22.01
36Epilepsy, myoclonic juvenileEnrichmentCACNB4, KCNQ31.85
37EpicanthusEnrichmentKCNA6, KCNQ21.78
38Episodic ataxia, type 1EnrichmentKCNA11.77
39Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.77
40Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS11.77
41Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.77
42Thyrotoxic periodic paralysis 1EnrichmentCACNA1S1.77
43Bartter syndrome, type 2, antenatalEnrichmentKCNJ11.77
44Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A1.77
45Hyperinsulinemic hypoglycemia, familial, 2EnrichmentKCNJ111.77
46Atrial fibrillation, familial, 7EnrichmentKCNA51.77
47Pseudohypoparathyroidism, type icEnrichmentGNAS1.77
48Epilepsy, idiopathic generalized 9EnrichmentCACNB41.77
49Long qt syndrome 13EnrichmentKCNJ51.77
50Carney complex, type 1EnrichmentPRKAR1A1.77
51Brugada syndrome 4EnrichmentCACNB21.77
52Jervell and lange-nielsen syndrome 2EnrichmentKCNE11.77
53Spinocerebellar ataxia 12EnrichmentPPP2R2B1.77
54Short qt syndrome 3EnrichmentKCNJ21.77
55Blepharospasm, benign essentialEnrichmentDRD51.77
56Nipples invertedEnrichmentKCNA61.77
57Osseous heteroplasia, progressiveEnrichmentGNAS1.77
58Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.77
59Temple-baraitser syndromeEnrichmentKCNH11.77
60Tremor, hereditary essential, 1EnrichmentDRD31.77
61Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.77
62Developmental and epileptic encephalopathy 7EnrichmentKCNQ21.77
63Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.77
64Aortic aneurysm, familial thoracic 8EnrichmentPRKG11.77
65Short qt syndrome 1EnrichmentKCNH21.77
66Long qt syndrome 5EnrichmentKCNE11.77
67Deafness, autosomal recessive 44EnrichmentADCY11.77
68Episodic ataxia, type 5EnrichmentCACNB41.77
69Developmental and epileptic encephalopathy 27EnrichmentGRIN2B1.77
70Epilepsy, progressive myoclonic 7EnrichmentKCNC11.77
71Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK51.77
72Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.77
73Ventricular tachycardia, familialEnrichmentGNAI21.77
74Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.77
75Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.77
76Spondylometaphyseal dysplasia, pagnamenta typeEnrichmentPRKG21.77
77Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.77
78Hypokalemic tubulopathy and deafnessEnrichmentKCNJ161.77
79Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA1.77
80Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.77
81Pituitary adenoma 3, multiple typesEnrichmentGNAS1.77
82Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.77
83Congenital myopathy 18EnrichmentCACNA1S1.77
84Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.77
85Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.77
86Houge-janssens syndrome 4EnrichmentPPP2R5C1.77
87Intellectual developmental disorder, x-linked, syndromic, wu typeEnrichmentGRIA31.77
88Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.77
89Auriculocondylar syndrome 2aEnrichmentPLCB41.77
90Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F1.77
91Cardioacrofacial dysplasia 2EnrichmentPRKACB1.77
92Developmental and epileptic encephalopathy 26EnrichmentKCNB11.77
93Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.77
94Hyperaldosteronism, familial, type iiiEnrichmentKCNJ51.77
95Myxoma, intracardiacEnrichmentPRKAR1A1.77
96Diabetes mellitus, transient neonatal, 3EnrichmentKCNJ111.77
97Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalanceEnrichmentKCNJ101.77
98Houge-janssens syndrome 2EnrichmentPPP2R1A1.77
99Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D1.77
100Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.77
101Long qt syndrome 11EnrichmentAKAP91.77
102Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.77
103Brugada syndrome 3EnrichmentCACNA1C1.77
104Malignant hyperthermia 5EnrichmentCACNA1S1.77
105Developmental and epileptic encephalopathy 32EnrichmentKCNA21.77
106Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN11.77
107Spinocerebellar ataxia 14EnrichmentPRKCG1.77
108Brugada syndrome 6EnrichmentKCNE31.77
109Spinocerebellar ataxia 19EnrichmentKCND31.77
110Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B1.77
111Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D1.77
112Moyamoya disease 6 with or without achalasiaEnrichmentGUCY1A11.77
113Dystonia 25EnrichmentGNAL1.77
114Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.77
115Long qt syndrome 16EnrichmentCALM31.77
116Diabetes mellitus, permanent neonatal, 2EnrichmentKCNJ111.77
117Neurodevelopmental disorder with language impairment and behavioral abnormalitiesEnrichmentGRIA21.77
118Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.77
119Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.77
120Maturity-onset diabetes of the young, type 13EnrichmentKCNJ111.77
121Developmental and epileptic encephalopathy 101EnrichmentGRIN11.77
122Developmental and epileptic encephalopathy 103EnrichmentKCNC21.77
123Atrial fibrillation, familial, 9EnrichmentKCNJ21.77
124Disorders of gnas inactivationEnrichmentGNAS1.77
125Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN11.77
126Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.77
127Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.77
128Neurodevelopmental disorder with or without seizures and gait abnormalitiesEnrichmentGRIA41.77
129Cardioacrofacial dysplasia 1EnrichmentPRKACA1.77
130Developmental and epileptic encephalopathy 69EnrichmentCACNA1E1.77
131Brugada syndrome 9EnrichmentKCND31.77
132Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.77
133Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA11.77
134Sick sinus syndrome 4EnrichmentGNB21.77
135Menke-hennekam syndrome 1EnrichmentCREBBP1.77
136Moyamoya disease with early-onset achalasiaEnrichmentGUCY1A11.77
137Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA11.77
138Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatumEnrichmentKCNA41.77
139Auriculocondylar syndrome 2bEnrichmentPLCB41.77
140Long qt syndrome 15EnrichmentCALM21.77
141Kcnq3-related disordersEnrichmentKCNQ31.77
142Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.77
143Syndromic x-linked intellectual disability 94EnrichmentGRIA31.77
144Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.77
145Spinocerebellar ataxia type 19/22EnrichmentKCND31.77
146Autonomic nervous system diseaseEnrichmentDRD41.77
147Rhabdomyolysis 2EnrichmentATP2A21.77
148Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.77
149Developmental and epileptic encephalopathy 112EnrichmentKCNH51.77
150Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B1.77
151Landau-kleffner syndromeEnrichmentGRIN2A1.77
152Sporadic hemiplegic migraineEnrichmentCACNA1A1.77
153Atypical timothy syndromeEnrichmentCACNA1C1.77
154Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D1.77
155Menke-hennekam syndromeEnrichmentCREBBP1.77
156Intermediate dend syndromeEnrichmentKCNJ111.77
157Intellectual disability, autosomal dominant 8EnrichmentGRIN11.77
158Gria2-related neurodevelopmental disorderEnrichmentGRIA21.77
159Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A1.77
160Monostotic fibrous dysplasiaEnrichmentGNAS1.77
161Grin2a-related disordersEnrichmentGRIN2A1.77
162Hereditary continuous muscle fiber activityEnrichmentKCNA11.77
163Timothy syndrome type 2EnrichmentCACNA1C1.77
164Kcnq2-related disordersEnrichmentKCNQ21.77
165Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.77
166Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S1.77
167Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.77
168Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.77
169Mazabraud syndromeEnrichmentGNAS1.77
170Rare renal tubular diseaseEnrichmentKCNJ101.77
171Timothy syndrome type 1EnrichmentCACNA1C1.77
172Isolated autosomal dominant hypomagnesemia, glaudemans typeEnrichmentKCNA11.77
173Cacna1c-related disordersEnrichmentCACNA1C1.77
174Benign paroxysmal torticollis of infancyEnrichmentCACNA1A1.77
175BlepharospasmEnrichmentDRD51.77
176Autosomal dominant hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.77
177Autosomal recessive hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.77
178Complex neurodevelopmental disorderEnrichmentCACNA1C, GNB2, GRIA4, GRIN2B, KCNA2, PPP2CA1.74
179DystoniaEnrichmentGNAL, GNB1, GRIA31.69
180Spinocerebellar ataxia 29EnrichmentITPR11.48
181Seizures, benign familial neonatal, 1EnrichmentKCNQ21.48
182Acrokeratosis verruciformisEnrichmentATP2A21.48
183Pseudohypoparathyroidism, type iaEnrichmentGNAS1.48
184Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.48
185Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.48
186Thumb deformityEnrichmentCREBBP1.48
187Brody diseaseEnrichmentATP2A11.48
188Timothy syndromeEnrichmentCACNA1C1.48
189Deafness, autosomal dominant 2aEnrichmentKCNQ41.48
190Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.48
191Histiocytoma, angiomatoid fibrousEnrichmentCREB11.48
192Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.48
193PseudopseudohypoparathyroidismEnrichmentGNAS1.48
194Seizures, benign familial infantile, 3EnrichmentKCNQ21.48
195Spinocerebellar ataxia 13EnrichmentKCNC31.48
196Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.48
197Diabetes mellitus, permanent neonatal, 1EnrichmentKCNJ111.48
198Keppen-lubinsky syndromeEnrichmentKCNJ61.48
199Lethal congenital contracture syndrome 8EnrichmentADCY61.48
200Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.48
201Night blindness, congenital stationary, type 1hEnrichmentGNB31.48
202Vitreoretinal degeneration, snowflake typeEnrichmentKCNJ131.48
203Spermatogenic failure 17EnrichmentPLCZ11.48
204Long qt syndrome 6EnrichmentKCNE21.48
205Atrial fibrillation, familial, 4EnrichmentKCNE21.48
206Leber congenital amaurosis 16EnrichmentKCNJ131.48
207Long qt syndrome 14EnrichmentCALM11.48
208Long qt syndrome 8EnrichmentCACNA1C1.48
209Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.48
210Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.48
211Intellectual developmental disorder, autosomal dominant 46EnrichmentKCNQ51.48
212Usher syndrome, type ivEnrichmentPRKAR1A1.48
213Bilateral generalized polymicrogyriaEnrichmentGRIN11.48
214Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.48
215Acromesomelic dysplasia 4EnrichmentPRKG21.48
216Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.48
217Developmental and epileptic encephalopathy 46EnrichmentGRIN2D1.48
218Cardiovascular system diseaseEnrichmentKCNQ11.48
219AcrodysostosisEnrichmentPRKAR1A1.48
220Benign familial neonatal epilepsyEnrichmentKCNQ31.48
221PseudohypoparathyroidismEnrichmentGNAS1.48
222Body mass index quantitative trait locus 19EnrichmentADCY31.48
223Fibrolamellar carcinomaEnrichmentPRKACA1.48
224Ocular melanomaEnrichmentPLCB41.48
225Ichthyosis, congenital, autosomal recessive 10EnrichmentKCNQ21.48
226Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.48
227HypopituitarismEnrichmentGNAI21.48
228Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.48
229Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.48
230Seizures, benign familial infantile, 5EnrichmentKCNQ31.48
231Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.48
232Houge-janssens syndrome 3EnrichmentPPP2CA1.48
233Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.48
234Dfna2 nonsyndromic hearing lossEnrichmentKCNQ41.48
235Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.48
236Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.48
237HyperinsulinismEnrichmentKCNJ111.48
238Benign neonatal seizuresEnrichmentKCNQ31.48
239Progressive bulbar palsyEnrichmentCACNA1A1.48
240Epilepsy-aphasia spectrumEnrichmentGRIN2A1.48
241Cerebral visual impairmentEnrichmentGNB11.48
242Early infantile developmental and epileptic encephalopathyEnrichmentGRIN1, KCNA11.44
243Darier-white diseaseEnrichmentATP2A21.30
244Mccune-albright syndromeEnrichmentGNAS1.30
245Zimmermann-laband syndrome 1EnrichmentKCNH11.30
246Van der woude syndrome 1EnrichmentCACNA1E1.30
247Cantu syndromeEnrichmentKCNJ81.30
248Gillespie syndromeEnrichmentITPR11.30
249Platelet disorder, familial, with associated myeloid malignancyEnrichmentKCNE21.30
250Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsyEnrichmentKCNA11.30
251Atrial fibrillation, familial, 3EnrichmentKCNQ11.30
252Nephrotic syndrome, type 3EnrichmentPLCE11.30
253Short qt syndrome 2EnrichmentKCNQ11.30
254Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentKCNH21.30
255Auditory neuropathy and optic atrophyEnrichmentGRIN2C1.30
256Tethered spinal cord syndromeEnrichmentCREBBP1.30
257Intraocular pressure quantitative trait locusEnrichmentCREBBP1.30
258Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.30
259Advanced sleep phase syndromeEnrichmentCSNK1D1.30
260Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentKCNE21.30
261Thyrotoxic periodic paralysisEnrichmentCACNA1S1.30
262Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.30
263Hereditary episodic ataxiaEnrichmentCACNA1A1.30
264Dend syndromeEnrichmentKCNJ111.30
265Congenital stationary night blindnessEnrichmentCACNA1F, GNB31.25
266ScoliosisEnrichmentCREBBP, GRIN2B1.22
267Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.18
268Chorea, benign hereditaryEnrichmentADCY51.18
269Spinocerebellar ataxia 6EnrichmentCACNA1A1.18
270Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentKCNH81.18
271Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.18
272AstigmatismEnrichmentGRIN2B1.18
273Dermatitis, atopicEnrichmentKCNJ111.18
274Pseudohypoparathyroidism, type ibEnrichmentGNAS1.18
275Aland island eye diseaseEnrichmentCACNA1F1.18
276Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.18
277Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.18
278Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.18
279Carney complex variantEnrichmentPRKAR1A1.18
280Spinocerebellar ataxia 15EnrichmentITPR11.18
281Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.18
282Cardiomyopathy, familial hypertrophic, 26EnrichmentKCNH21.18
283Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.18
284Achromatopsia 4EnrichmentGNAI31.18
285Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.18
286Atrial fibrillationEnrichmentKCNQ11.18
287Neonatal diabetes mellitusEnrichmentKCNJ111.18
288Hereditary ataxiaEnrichmentPRKCG1.18
289Pregnancy loss, recurrent 1EnrichmentKCNQ11.18
290Idiopathic achalasiaEnrichmentNOS11.18
291Malignant hyperthermiaEnrichmentCACNA1S1.18
292Episodic ataxiaEnrichmentCACNA1A1.18
293Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.18
294Familial sick sinus syndromeEnrichmentGNB21.18
295StrabismusEnrichmentCACNA1A, GNB11.12
296Episodic ataxia, type 2EnrichmentCACNA1A1.09
297Deafness, autosomal recessive 4, with enlarged vestibular aqueductEnrichmentKCNJ101.09
298Heart conduction diseaseEnrichmentCACNA1C1.09
299AmblyopiaEnrichmentCACNA1F1.09
300Spastic diplegiaEnrichmentKCNJ101.09
301Transient neonatal diabetes mellitusEnrichmentKCNJ111.09
302HypoglycemiaEnrichmentKCNJ111.09
303FarsightednessEnrichmentKCNA61.09
304Sleep disorderEnrichmentGRIN2B1.09
305Melanoma, uvealEnrichmentPLCB41.01
306Dystonia 11, myoclonicEnrichmentDRD21.01
307Hyperinsulinemic hypoglycemia, familial, 1EnrichmentKCNJ111.01
308Rubinstein-taybi syndrome 1EnrichmentCREBBP1.01
309Moyamoya disease 1EnrichmentGUCY1A11.01
310Pendred syndromeEnrichmentKCNJ101.01
311Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP1.01
312Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.01
313Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.01
314Adrenocortical carcinomaEnrichmentPRKAR1A1.01
315Early myoclonic encephalopathyEnrichmentKCND21.01
316Nonsyndromic genetic hyperinsulinismEnrichmentKCNJ111.01
317Congenital nervous system abnormalityEnrichmentCACNA1A, CREBBP, GNB5, KCNJ100.99
318Nervous system diseaseEnrichmentCACNA1A, CREBBP, GNB5, KCNJ100.99
319Silver-russell syndrome 1EnrichmentKCNQ10.95
320Brugada syndrome 1EnrichmentKCNH20.95
321BrachydactylyEnrichmentGNAS0.95
322Third-degree atrioventricular blockEnrichmentKCNA50.95
323Bartter diseaseEnrichmentKCNJ10.95
324Spastic paraplegia 4, autosomal dominantEnrichmentGNAS0.90
325Lennox-gastaut syndromeEnrichmentCACNA1A0.90
326Alternating hemiplegia of childhoodEnrichmentCACNA1A0.90
327Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.90
328HypothyroidismEnrichmentGNB10.90
329Essential tremorEnrichmentDRD30.90
330Permanent neonatal diabetes mellitusEnrichmentKCNJ110.90
331Difference of sex developmentEnrichmentCACNA1A0.90
332Nephrotic syndrome, type 1EnrichmentPLCE10.85
333Inflammatory bowel disease 1EnrichmentPRKCQ0.85
334Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C0.85
335Primary hyperaldosteronismEnrichmentGNAS0.85
336EpilepsyEnrichmentGRIN2A, GRIN2B0.84
337Rare genetic deafnessEnrichmentKCNE1, KCNQ1, KCNQ40.83
338Stroke, ischemicEnrichmentPRKCH0.81
339Type 2 diabetes mellitusEnrichmentKCNJ11, PPP1R3A0.80
340Migraine with or without aura 1EnrichmentCACNA1A0.77
341Leukemia, acute lymphoblasticEnrichmentGNB10.77
342Myelodysplastic syndromeEnrichmentGNB10.77
343Diabetes mellitusEnrichmentKCNJ110.77
344Cardiac conduction defectEnrichmentCACNA1C0.73
345Acute promyelocytic leukemiaEnrichmentPRKAR1A0.70
346Chromosome 1p36 deletion syndromeEnrichmentKCNAB20.70
347Multiple sclerosisEnrichmentITPR10.68
348Cone-rod dystrophy 6EnrichmentCACNA1F0.68
349Heart diseaseEnrichmentCREBBP0.68
350Spastic ataxiaEnrichmentCACNB4, ITPR10.65
351Corpus callosum, agenesis ofEnrichmentCREBBP0.65
352MyopiaEnrichmentCACNA1F0.65
353Anterior segment dysgenesisEnrichmentITPR10.65
354Isolated corpus callosum agenesisEnrichmentCREBBP0.65
355Rare genetic intellectual disabilityEnrichmentCREBBP0.65
356Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.65
357Wolff-parkinson-white syndromeEnrichmentKCNQ10.62
358Hypertension, essentialEnrichmentGNB30.60
359Cleft palate, isolatedEnrichmentGNB10.60
360Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, GRIN10.59
361Beckwith-wiedemann syndromeEnrichmentKCNQ10.58
362Diffuse large b-cell lymphomaEnrichmentCREBBP0.56
363Congenital myopathyEnrichmentCACNA1S0.56
364Autism spectrum disorderEnrichmentGNB1, GRIA1, GRIN2B0.56
365Maturity-onset diabetes of the youngEnrichmentKCNJ110.54
366CraniosynostosisEnrichmentGRIN2B0.54
367Focal segmental glomerulosclerosisEnrichmentPLCE10.54
368Centronuclear myopathyEnrichmentCACNA1S0.52
369Myocardial infarctionEnrichmentGUCY1A10.51
370Ear malformationEnrichmentKCNQ10.48
371Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C0.48
372MicrocephalyEnrichmentGNB1, GRIN2B, KCNJ100.47
373Auditory neuropathyEnrichmentCACNA1A0.45
374Lung cancerEnrichmentPPP2R1B0.38
375Familial hypertrophic cardiomyopathyEnrichmentKCNH20.37
376Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.36
377Eye diseaseEnrichmentCACNA1F0.35
378Non-syndromic genetic deafnessEnrichmentKCNQ40.34
379Nonsyndromic hearing lossEnrichmentKCNQ40.29
380Nephrotic syndromeEnrichmentPLCE10.29
381Optic atrophy plus syndromeEnrichmentCACNA1F0.28
382Familial thoracic aortic aneurysm and aortic dissectionEnrichmentPRKG10.28
383Sensorineural hearing lossEnrichmentKCNE10.25
384Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKCNQ40.23
385Myeloma, multipleEnrichmentCREBBP0.21
386SchizophreniaEnrichmentDRD30.20
387Cone-rod dystrophy 2EnrichmentCACNA1F0.16
388AutismEnrichmentCREBBP0.15
389Breast cancerEnrichmentGNG30.14
390Primary ciliary dyskinesiaEnrichmentPRKAR1B0.14
391Dilated cardiomyopathyEnrichmentKCNE10.13
392Colorectal cancerEnrichmentKCNB20.11
393Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.11
394Leber plus diseaseEnrichmentKCNJ130.10
395Retinitis pigmentosaEnrichmentCACNA1F, KCNJ130.06
396Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.05
397Hereditary retinal dystrophyEnrichmentCACNA1F0.00
398Fundus dystrophyEnrichmentCACNA1F0.00

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