Signal transduction_PKA signaling

No Pathway Network information available for Signal transduction_PKA signaling

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

Disorders associated with Signal transduction_PKA signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A4.39
2AcrodysostosisEnrichmentPDE4D, PRKAR1A4.39
3Phosphorylase kinase deficiencyEnrichmentPHKB, PHKG23.40
4Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.85
5Hypertension and brachydactyly syndromeEnrichmentPDE3A2.19
6Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.19
7Prostate cancer, hereditary, x-linked 3EnrichmentAR2.19
8Androgen insensitivity, partialEnrichmentAR2.19
9Cardiomyopathy, dilated, 2aEnrichmentTNNI32.19
10Pseudohypoparathyroidism, type icEnrichmentGNAS2.19
11Carney complex, type 1EnrichmentPRKAR1A2.19
12Spinocerebellar ataxia 12EnrichmentPPP2R2B2.19
13Osseous heteroplasia, progressiveEnrichmentGNAS2.19
14Cardiomyopathy, familial hypertrophic, 7EnrichmentTNNI32.19
15Glycogen storage disease ixcEnrichmentPHKG22.19
16Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.19
17Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.19
18Deafness, autosomal recessive 44EnrichmentADCY12.19
19Ventricular tachycardia, familialEnrichmentGNAI22.19
20Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.19
21Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF12.19
22Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual developmentEnrichmentPTPA2.19
23Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.19
24Pituitary adenoma 3, multiple typesEnrichmentGNAS2.19
25Houge-janssens syndrome 4EnrichmentPPP2R5C2.19
26Cardioacrofacial dysplasia 2EnrichmentPRKACB2.19
27Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC72.19
28Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.19
29Myxoma, intracardiacEnrichmentPRKAR1A2.19
30Developmental and epileptic encephalopathy 17EnrichmentGNAO12.19
31Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.19
32Rothmund-thomson syndrome, type 1EnrichmentANAPC12.19
33Acrodysostosis 2 with or without hormone resistanceEnrichmentPDE4D2.19
34Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.19
35Epilepsy, childhood absence 5EnrichmentGABRB32.19
36Disorders of gnas inactivationEnrichmentGNAS2.19
37Developmental and epileptic encephalopathy 92EnrichmentGABRB22.19
38Cardioacrofacial dysplasia 1EnrichmentPRKACA2.19
39Developmental and epileptic encephalopathy 43EnrichmentGABRB32.19
40Developmental and epileptic encephalopathy 45EnrichmentGABRB12.19
41Congenital myopathy with myasthenic-like onsetEnrichmentRYR12.19
42Spermatogenic failure 82EnrichmentAKAP32.19
43Heritable thoracic aortic diseaseEnrichmentSMAD42.19
44Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.19
45Complete androgen insensitivity syndromeEnrichmentAR2.19
46Monostotic fibrous dysplasiaEnrichmentGNAS2.19
47Gnao1-related disorderEnrichmentGNAO12.19
48Mazabraud syndromeEnrichmentGNAS2.19
49Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathyEnrichmentRYR12.19
50Benign samaritan congenital myopathyEnrichmentRYR12.19
51Malignant hyperthermia 1EnrichmentRYR11.89
52Cardiomyopathy, familial restrictive, 1EnrichmentTNNI31.89
53Pseudohypoparathyroidism, type iaEnrichmentGNAS1.89
54Myhre syndromeEnrichmentSMAD41.89
55Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.89
56Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.89
57Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.89
58Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B1.89
59Histiocytoma, angiomatoid fibrousEnrichmentCREB11.89
60PseudopseudohypoparathyroidismEnrichmentGNAS1.89
61Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.89
62Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.89
63Lethal congenital contracture syndrome 8EnrichmentADCY61.89
64Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.89
65Chromosome 5q12 deletion syndromeEnrichmentPDE4D1.89
66Cardiomyopathy, familial hypertrophic, 25EnrichmentTNNI31.89
67Cardiomyopathy, dilated, 1ffEnrichmentTNNI31.89
68Houge-janssens syndrome 1EnrichmentPPP2R5D1.89
69Loeys-dietz syndrome 3EnrichmentSMAD31.89
70Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.89
71Osteogenesis imperfecta, type xxiEnrichmentKDELR21.89
7246,xy sex reversal 1EnrichmentAR1.89
73Androgen insensitivity syndromeEnrichmentAR1.89
74Usher syndrome, type ivEnrichmentPRKAR1A1.89
75Hypospadias 1, x-linkedEnrichmentAR1.89
76King-denborough syndromeEnrichmentRYR11.89
77PseudohypoparathyroidismEnrichmentGNAS1.89
78Body mass index quantitative trait locus 19EnrichmentADCY31.89
79Fibrolamellar carcinomaEnrichmentPRKACA1.89
80Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.89
81Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.89
82HypopituitarismEnrichmentGNAI21.89
83Exercise-induced malignant hyperthermiaEnrichmentRYR11.89
84Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.89
85Glycogen storage disease due to liver phosphorylase kinase deficiencyEnrichmentPHKG21.89
86Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.89
87Posterior hypospadiasEnrichmentAR1.89
88Mccune-albright syndromeEnrichmentGNAS1.72
89Juvenile polyposis syndromeEnrichmentSMAD41.72
90Glycogen storage disease ixbEnrichmentPHKB1.72
91Glycogen storage disease ixdEnrichmentPHKG11.72
92Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B1.72
93Nasopharyngeal carcinomaEnrichmentNFKBIA1.72
94Lynch syndrome 5EnrichmentRYR11.72
95Bronchopulmonary dysplasiaEnrichmentRYR11.72
96Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.72
97Melanoma of soft tissueEnrichmentCREB11.72
98Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.72
99Chorea, benign hereditaryEnrichmentADCY51.59
100Congenital myopathy 1a, autosomal dominant, with malignant hyperthermiaEnrichmentRYR11.59
101Myopathy, centronuclear, 2EnrichmentRYR11.59
102Sacral defect with anterior meningoceleEnrichmentRYR11.59
103Pseudohypoparathyroidism, type ibEnrichmentGNAS1.59
104Auriculocondylar syndrome 1EnrichmentGNAI31.59
105Carney complex variantEnrichmentPRKAR1A1.59
106Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.59
107Achromatopsia 4EnrichmentGNAI31.59
108Intellectual developmental disorder, autosomal dominant 26EnrichmentRYR11.59
109Congenital myopathy 1aEnrichmentRYR11.59
110Aortic aneurysmEnrichmentSMAD31.59
111Malignant hyperthermiaEnrichmentRYR11.59
112Adenosine deaminase deficiencyEnrichmentPKIG1.59
113Congenital myopathy 1b, autosomal recessiveEnrichmentRYR11.50
114Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.50
115Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD3, SMAD41.49
116Myopathy, centronuclear, 1EnrichmentRYR11.42
117Epilepsy, childhood absence 1EnrichmentGABRB31.42
118Adrenocortical carcinomaEnrichmentPRKAR1A1.42
119Childhood absence epilepsyEnrichmentGABRB31.42
120Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS1.39
121BrachydactylyEnrichmentGNAS1.36
122Gallbladder cancerEnrichmentSMAD41.36
123Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.36
124Familial isolated restrictive cardiomyopathyEnrichmentTNNI31.36
125Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.30
126Spermatogenic failure 5EnrichmentAKAP31.30
127Multiple pterygium syndrome, lethal typeEnrichmentRYR11.30
128Lennox-gastaut syndromeEnrichmentGABRB31.30
129Congenital muscular dystrophyEnrichmentRYR11.30
130MyocarditisEnrichmentTNNI31.30
131Choreatic diseaseEnrichmentGNAO11.30
132Difference of sex developmentEnrichmentAR1.30
133Cardiomyopathy, familial hypertrophic, 4EnrichmentTNNI31.25
134Loeys-dietz syndromeEnrichmentSMAD31.25
135Primary hyperaldosteronismEnrichmentGNAS1.25
136Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.25
137Hydrops fetalisEnrichmentRYR11.25
13846,xy complete gonadal dysgenesisEnrichmentAR1.17
139Movement diseaseEnrichmentGNAO11.17
140Restrictive cardiomyopathyEnrichmentTNNI31.13
141Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentRYR11.10
142Pulmonary disease, chronic obstructiveEnrichmentPDE3B1.10
143Acute promyelocytic leukemiaEnrichmentPRKAR1A1.10
144ClubfootEnrichmentRYR11.10
145OligospermiaEnrichmentCDK161.10
146Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.06
147Congenital myopathy 4a, autosomal dominantEnrichmentRYR11.04
148Rare genetic intellectual disabilityEnrichmentGNAO11.04
149Arrhythmogenic right ventricular cardiomyopathyEnrichmentRYR11.01
150GliosarcomaEnrichmentNFKBIA1.01
151Sudden infant death syndromeEnrichmentTNNI30.98
152Giant cell glioblastomaEnrichmentNFKBIA0.98
153Beckwith-wiedemann syndromeEnrichmentRYR10.96
154Neuromuscular diseaseEnrichmentRYR10.96
155Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.96
156Congenital myopathyEnrichmentRYR10.94
157Ehlers-danlos syndromeEnrichmentSMAD30.94
158Cardiomyopathy, dilated, 1aEnrichmentTNNI30.90
159Centronuclear myopathyEnrichmentRYR10.90
160Non-syndromic male infertility due to sperm motility disorderEnrichmentAKAP40.86
161Cardiomyopathy, familial hypertrophic, 1EnrichmentTNNI30.84
162ScoliosisEnrichmentRYR10.84
163Pancreatic cancerEnrichmentSMAD40.83
164Developmental and epileptic encephalopathy 1EnrichmentGNAO10.83
165Prostate cancerEnrichmentAR0.77
166Connective tissue diseaseEnrichmentSMAD30.73
167Familial hypertrophic cardiomyopathyEnrichmentTNNI30.72
168Severe combined immunodeficiencyEnrichmentPKIG0.72
169Male infertilityEnrichmentAR0.71
170Left ventricular noncompactionEnrichmentTNNI30.69
171Developmental and epileptic encephalopathyEnrichmentGNAO10.68
172Inherited cancer-predisposing syndromeEnrichmentPRKAR1A, SMAD40.68
173Fetal akinesia deformation sequence 1EnrichmentRYR10.67
174EpilepsyEnrichmentGABRB30.64
175MyopathyEnrichmentRYR10.64
176Distal arthrogryposisEnrichmentRYR10.63
177Gastric cancerEnrichmentSMAD40.62
178Hypertrophic cardiomyopathyEnrichmentTNNI30.62
179West syndromeEnrichmentGNAO10.61
180ThrombocytopeniaEnrichmentSMAD40.57
181Familial isolated dilated cardiomyopathyEnrichmentTNNI30.54
182Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR0.52
183Undetermined early-onset epileptic encephalopathyEnrichmentGABRB20.52
184SchizophreniaEnrichmentGABRB20.50
185Primary ciliary dyskinesiaEnrichmentPRKAR1B0.41
186Dilated cardiomyopathyEnrichmentTNNI30.39
187Colorectal cancerEnrichmentSMAD40.37
188Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.36
189Ovarian cancerEnrichmentAR0.32
190Congenital nervous system abnormalityEnrichmentGNAO10.30
191Nervous system diseaseEnrichmentGNAO10.30
192MicrocephalyEnrichmentGNAO10.26
193Complex neurodevelopmental disorderEnrichmentWASF10.26

Loading...
Loading...
Loading...