Phosphodiesterases in neuronal function

No Pathway Network information available for Phosphodiesterases in neuronal function

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

Disorders associated with Phosphodiesterases in neuronal function SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Isolated micronodular adrenocortical diseaseEnrichmentPDE11A, PDE8B4.84
2AchromatopsiaEnrichmentPDE6C, PDE6H3.20
3Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, GRIA1, GRIN13.04
4Cone-rod dystrophy 6EnrichmentPDE6B, PDE6C2.89
5Hypertension and brachydactyly syndromeEnrichmentPDE3A2.42
6Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS12.42
7Striatal degeneration, autosomal dominant 1EnrichmentPDE8B2.42
8Achromatopsia 6EnrichmentPDE6H2.42
9Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.42
10Retinitis pigmentosa 57EnrichmentPDE6G2.42
11Aortic aneurysm, familial thoracic 8EnrichmentPRKG12.42
12Deafness, autosomal recessive 44EnrichmentADCY12.42
13Joubert syndrome 22EnrichmentPDE6D2.42
14Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.42
15Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.42
16Intellectual developmental disorder with paroxysmal dyskinesia or seizuresEnrichmentPDE2A2.42
17Retinal cone dystrophy 3aEnrichmentPDE6H2.42
18Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.42
19Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN12.42
20Moyamoya disease 6 with or without achalasiaEnrichmentGUCY1A12.42
21Acrodysostosis 2 with or without hormone resistanceEnrichmentPDE4D2.42
22Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.42
23Cone dystrophy 4EnrichmentPDE6C2.42
24Developmental and epileptic encephalopathy 101EnrichmentGRIN12.42
25Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN12.42
26Retinitis pigmentosa 43EnrichmentPDE6A2.42
27Pigmented nodular adrenocortical disease, primary, 3EnrichmentPDE8B2.42
28Cardioacrofacial dysplasia 1EnrichmentPRKACA2.42
29Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA12.42
30Deafness, autosomal dominant 74EnrichmentPDE1C2.42
31Moyamoya disease with early-onset achalasiaEnrichmentGUCY1A12.42
32Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.42
33Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA12.42
34Striatal degeneration, autosomal dominantEnrichmentPDE8B2.42
35Idiopathic hypercalciuriaEnrichmentADCY102.42
36Acute encephalopathy with biphasic seizures and late reduced diffusionEnrichmentADORA2A2.42
37Intellectual disability, autosomal dominant 8EnrichmentGRIN12.42
38Hereditary retinal dystrophyEnrichmentPDE6A, PDE6B, PDE6C, PDE6G, PDE6H2.31
39Fundus dystrophyEnrichmentPDE6A, PDE6B, PDE6C, PDE6G, PDE6H2.31
40Hypercalciuria, absorptive, 2EnrichmentADCY102.12
41Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B2.12
42Histiocytoma, angiomatoid fibrousEnrichmentCREB12.12
43Lethal congenital contracture syndrome 8EnrichmentADCY62.12
44Chromosome 5q12 deletion syndromeEnrichmentPDE4D2.12
45Pigmented nodular adrenocortical disease, primary, 2EnrichmentPDE11A2.12
46Bilateral generalized polymicrogyriaEnrichmentGRIN12.12
47Developmental and epileptic encephalopathy 46EnrichmentGRIN2D2.12
48AcrodysostosisEnrichmentPDE4D2.12
49Chromosome 15q13.3 deletion syndromeEnrichmentCHRNA72.12
50Body mass index quantitative trait locus 19EnrichmentADCY32.12
51Fibrolamellar carcinomaEnrichmentPRKACA2.12
52Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPDE11A2.12
53Night blindness, congenital stationary, autosomal dominant 2EnrichmentPDE6B1.94
54Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B1.94
55Retinitis pigmentosa 40EnrichmentPDE6B1.94
56Melanoma of soft tissueEnrichmentCREB11.94
57Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.94
58Chorea, benign hereditaryEnrichmentADCY51.82
59Carney complex variantEnrichmentPDE11A1.82
60Idiopathic achalasiaEnrichmentNOS11.82
61Albinism, oculocutaneous, type iiEnrichmentPDE6B1.72
62Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentPDE2A1.72
63Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, GRIN11.68
64Dystonia 11, myoclonicEnrichmentDRD21.64
65Moyamoya disease 1EnrichmentGUCY1A11.64
66Paroxysmal dystoniaEnrichmentPDE2A1.58
67Choreatic diseaseEnrichmentPDE2A1.52
68Ellis-van creveld syndromeEnrichmentPRKACA1.47
69Orofaciodigital syndrome viEnrichmentPDE6D1.38
70Retinitis pigmentosaEnrichmentPDE6A, PDE6B, PDE6G1.32
71Pulmonary disease, chronic obstructiveEnrichmentPDE3B1.31
72Leber plus diseaseEnrichmentPDE6A, PDE6B1.29
73Isolated macular dystrophyEnrichmentPDE6C1.28
74Early infantile developmental and epileptic encephalopathyEnrichmentGRIN11.17
75Myocardial infarctionEnrichmentGUCY1A11.09
76Congenital stationary night blindnessEnrichmentPDE6B1.07
77Cone dystrophyEnrichmentPDE6C1.05
78Developmental and epileptic encephalopathy 1EnrichmentGRIN11.04
79Isolated joubert syndromeEnrichmentPDE6D0.96
80Eye diseaseEnrichmentPDE6C0.90
81Benign epilepsy with centrotemporal spikesEnrichmentGRIN10.84
82Centralopathic epilepsyEnrichmentGRIN10.82
83West syndromeEnrichmentGRIN10.81
84Familial thoracic aortic aneurysm and aortic dissectionEnrichmentPRKG10.81
85Body mass index quantitative trait locus 11EnrichmentADCY30.76
86Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentPDE1C0.74
87Undetermined early-onset epileptic encephalopathyEnrichmentGRIN2D0.71
88SchizophreniaEnrichmentPDE11A0.69
89Cone-rod dystrophy 2EnrichmentPDE6B0.64
90Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.54
91Autism spectrum disorderEnrichmentGRIA10.46

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