Neuropathic Pain-Signaling in Dorsal Horn Neurons

Pathway network for the Neuropathic Pain-Signaling in Dorsal Horn Neurons SuperPath

Sources:
  • QIAGEN

Pathways in the Neuropathic Pain-Signaling in Dorsal Horn Neurons SuperPath

#NameSourceGenes
1Neuropathic Pain-Signaling in Dorsal Horn NeuronsQIAGEN
2Aldosterone Signaling in Epithelial CellsQIAGEN
3Cholera InfectionQIAGEN

Gene overlap in member pathways for Neuropathic Pain-Signaling in Dorsal Horn Neurons SuperPath

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

Disorders associated with Neuropathic Pain-Signaling in Dorsal Horn Neurons SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS28.84
2Noonan syndrome and noonan-related syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS18.47
3Brugada syndromeEnrichmentCACNA2D1, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SCNN1A8.42
4RasopathyEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS28.42
5Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A, KCNT1, PLCB1, SCN1A, SCN1B, SCN2A, SCN9A8.35
6Centralopathic epilepsyEnrichmentGRIN1, GRIN2A, KCNT1, PLCB1, SCN1A, SCN1B, SCN2A, SCN9A8.18
7Idiopathic bronchiectasisEnrichmentCFTR, SCNN1A, SCNN1B, SCNN1G8.12
8West syndromeEnrichmentGRIA3, GRIN1, GRIN2B, NTRK2, PLCB1, SCN1A, SCN2A, SCN8A8.09
9Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.08
10Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.08
11EpilepsyEnrichmentGRIN2A, GRIN2B, KCNT1, SCN1A, SCN2A, SCN3A, SCN8A7.02
12Liddle syndrome 1EnrichmentSCNN1A, SCNN1B, SCNN1G6.09
13Pseudohypoaldosteronism, type ib1, autosomal recessiveEnrichmentSCNN1A, SCNN1B, SCNN1G6.09
14Hereditary sodium channelopathy-related small fibers neuropathyEnrichmentSCN10A, SCN11A, SCN9A6.09
15Developmental and epileptic encephalopathy 14EnrichmentKCNT1, PLCB1, SCN1A, SCN2A6.04
16Undetermined early-onset epileptic encephalopathyEnrichmentCACNA2D1, GRIN2D, NTRK2, SCN1A, SCN1B, SCN3A, SCN8A5.98
17Developmental and epileptic encephalopathyEnrichmentCACNA2D2, GRIA3, SCN1A, SCN2A, SCN3A, SCN8A5.95
18Dravet syndromeEnrichmentSCN1A, SCN1B, SCN2A, SCN9A5.82
19Familial atrial fibrillationEnrichmentSCN1B, SCN2B, SCN3B, SCN4B, SCN5A5.59
20Erythermalgia, primaryEnrichmentSCN10A, SCN11A, SCN9A5.49
21Generalized epilepsy with febrile seizures plusEnrichmentSCN1A, SCN1B, SCN2A, SCN9A5.15
22Paroxysmal extreme pain disorderEnrichmentSCN10A, SCN11A, SCN9A5.09
23Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, GRIA1, GRIN1, GRIN2B, SCN8A5.09
24Early infantile developmental and epileptic encephalopathyEnrichmentGRIN1, GRM7, SCN1B, SCN2A4.64
25Neuropathy, hereditary sensory and autonomic, type vEnrichmentSCN10A, SCN11A, SCN9A4.55
26Brugada syndrome 1EnrichmentCACNA2D1, SCN10A, SCN5A4.52
27Noonan syndrome 3EnrichmentKRAS, RAF1, SOS14.52
28Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.52
29Alternating hemiplegia of childhoodEnrichmentATP1A2, ATP1A3, SCN2A4.32
30Batten-turner congenital myopathyEnrichmentCLCN1, SCN4A4.05
31Achromatopsia 3EnrichmentCNGA3, CNGB34.05
32Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.05
33Malignant migrating partial seizures of infancyEnrichmentKCNT1, SCN2A4.05
34Pulmonic stenosisEnrichmentBRAF, SOS14.03
35Lung non-small cell carcinomaEnrichmentBRAF, KRAS, MAP2K13.86
36Generalized epilepsy with febrile seizures plus, type 1EnrichmentSCN1A, SCN1B3.58
37Dystonia 12EnrichmentATP1A3, SCN2A3.56
38Langerhans cell histiocytosisEnrichmentBRAF, MAP2K13.56
39Fetal akinesia deformation sequence 1EnrichmentACTA1, SCN4A, SCN5A, SCN8A3.41
40Hyperkalemic periodic paralysisEnrichmentCLCN1, SCN4A3.28
41Developmental and epileptic encephalopathy 12EnrichmentPLCB1, SCN2A3.28
42Hereditary progressive cardiac conduction defectEnrichmentSCN1B, SCN5A3.28
43Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.26
44Familial or sporadic hemiplegic migraineEnrichmentATP1A2, SCN1A3.26
45Distal arthrogryposisEnrichmentACTA1, SCN4A, SCN5A, SCN8A3.19
46Self-limited infantile epilepsyEnrichmentSCN2A, SCN8A3.06
47Cardiac arrestEnrichmentCACNA2D1, SCN5A3.04
48Hypokalemic periodic paralysis, type 1EnrichmentCLCN1, SCN4A2.89
49Developmental and epileptic encephalopathy 1EnrichmentGRIN1, SCN1A, SCN8A2.76
50Focal epilepsyEnrichmentSCN2A, SCN8A2.75
51Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.73
52Gallbladder cancerEnrichmentBRAF, KRAS2.73
53Bartter diseaseEnrichmentSLC12A1, SLC12A32.73
54Melanocytic nevus syndrome, congenitalEnrichmentBRAF, RAF12.60
55Lennox-gastaut syndromeEnrichmentMAPK10, SCN1A2.60
56Long qt syndrome 1EnrichmentSCN10A, SCN4B, SCN5A2.56
57Bronchiectasis with or without elevated sweat chloride 1EnrichmentCFTR, SCNN1B2.52
58Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.50
59AchromatopsiaEnrichmentCNGA3, CNGB32.42
60Cone-rod dystrophy 2EnrichmentCNGA1, CNGA3, CNGB3, KCNV22.41
61PolymicrogyriaEnrichmentATP1A2, SCN3A2.40
62Movement diseaseEnrichmentCLCN6, SCN2A2.34
63AutismEnrichmentARF3, SCN1A, SCN2A, SCN8A2.32
64Cardiac conduction defectEnrichmentSCN1B, SCN5A2.26
65MyopathyEnrichmentACTA1, CLCN1, SCN4A2.20
66MicrocephalyEnrichmentCAMK2B, GRIN2B, GRM7, MAPK1, SCN1A2.17
67Cone-rod dystrophy 6EnrichmentCNGB3, KCNV22.13
68Lung cancer susceptibility 3EnrichmentBRAF, KRAS2.11
69Osteopetrosis, autosomal dominant 2EnrichmentCLCN72.03
70Achromatopsia 2EnrichmentCNGA32.03
71Baraitser-winter syndrome 1EnrichmentACTB2.03
72Cone dystrophy with supernormal rod responsesEnrichmentKCNV22.03
73Pseudohypoparathyroidism, type icEnrichmentGNAS2.03
74Scalp-ear-nipple syndromeEnrichmentKCTD12.03
75Brugada syndrome 5EnrichmentSCN1B2.03
76Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.03
77Osseous heteroplasia, progressiveEnrichmentGNAS2.03
78Bronchiectasis with or without elevated sweat chloride 2EnrichmentSCNN1A2.03
79Bronchiectasis with or without elevated sweat chloride 3EnrichmentSCNN1G2.03
80Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD12.03
81Long qt syndrome 10EnrichmentSCN4B2.03
82Episodic pain syndrome, familial, 3EnrichmentSCN11A2.03
83Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY52.03
84Developmental and epileptic encephalopathy 11EnrichmentSCN2A2.03
85Myopathy, scapulohumeroperonealEnrichmentACTA12.03
86Neuropathy, hereditary sensory and autonomic, type viiEnrichmentSCN11A2.03
87Deafness, autosomal recessive 44EnrichmentADCY12.03
88Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.03
89Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.03
90Atrial fibrillation, familial, 14EnrichmentSCN2B2.03
91Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.03
92Neurodevelopmental disorder with seizures and brain abnormalitiesEnrichmentCLCN32.03
93Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.03
94Deafness, autosomal recessive 103EnrichmentCLIC52.03
95Pseudohypoaldosteronism, type ib2, autosomal recessiveEnrichmentSCNN1B2.03
96Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY52.03
97Pituitary adenoma 3, multiple typesEnrichmentGNAS2.03
98Liddle syndrome 2EnrichmentSCNN1G2.03
99Hypopigmentation, organomegaly, and delayed myelination and developmentEnrichmentCLCN72.03
100Myoclonus, familial, 2EnrichmentSCN8A2.03
101Spermatogenic failure 79EnrichmentKCNU12.03
102Raynaud-claes syndromeEnrichmentCLCN42.03
103Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.03
104Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.03
105Developmental and epileptic encephalopathy 62EnrichmentSCN3A2.03
106Spermatogenic failure 27EnrichmentAK72.03
107Liddle syndrome 3EnrichmentSCNN1A2.03
108Auriculocondylar syndrome 2aEnrichmentPLCB42.03
109Atrial fibrillation, familial, 13EnrichmentSCN1B2.03
110Tubulointerstitial kidney disease, autosomal dominant 5EnrichmentSEC61A12.03
111Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY52.03
112Spinocerebellar ataxia 14EnrichmentPRKCG2.03
113Becker nevus syndromeEnrichmentACTB2.03
114Dystonia-deafness syndrome 1EnrichmentACTB2.03
115Epilepsy, idiopathic generalized 11EnrichmentCLCN22.03
116Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.03
117Episodic ataxia, type 9EnrichmentSCN2A2.03
118Episodic pain syndrome, familial, 2EnrichmentSCN10A2.03
119Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.03
120Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.03
121Pulmonary hypertension, primary, 4EnrichmentKCNK32.03
122Benign familial infantile epilepsyEnrichmentSCN2A2.03
123Brugada syndrome 7EnrichmentSCN3B2.03
124Autosomal dominant familial visceral neuropathyEnrichmentACTG22.03
125Disorders of gnas inactivationEnrichmentGNAS2.03
126Retinitis pigmentosa 45EnrichmentCNGB12.03
127Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.03
128Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.03
129Epilepsy, familial focal, with variable foci 4EnrichmentSCN3A2.03
130Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.03
131Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.03
132Developmental and epileptic encephalopathy 57EnrichmentKCNT22.03
133Ceroid lipofuscinosis, neuronal, 15EnrichmentCLCN62.03
134Muscular channelopathyEnrichmentSCN4A2.03
135Neurodevelopmental disorder with hypotonia and brain abnormalitiesEnrichmentCLCN32.03
136Auriculocondylar syndrome 2bEnrichmentPLCB42.03
137Neutropenia, severe congenital, 11, autosomal dominantEnrichmentSEC61A12.03
138Pseudohypoaldosteronism, type ib3, autosomal recessiveEnrichmentSCNN1G2.03
139Baraitser-winter syndromeEnrichmentACTB2.03
140Progressive myoclonus epilepsy 3EnrichmentKCTD72.03
141Aquagenic palmoplantar keratodermaEnrichmentCFTR2.03
142Zebra body myopathyEnrichmentACTA12.03
143Congenital smooth muscle hamartomaEnrichmentACTB2.03
144X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeEnrichmentCLIC22.03
145Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.03
146Monostotic fibrous dysplasiaEnrichmentGNAS2.03
147Actin-accumulation myopathyEnrichmentACTA12.03
148Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.03
149Mazabraud syndromeEnrichmentGNAS2.03
150Myopathic intestinal pseudoobstructionEnrichmentACTG22.03
151Cone dystrophy with supernormal rod responseEnrichmentKCNV22.03
152Actg2 visceral myopathyEnrichmentACTG22.03
153Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS12.02
154Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.02
155Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A2.02
156Carney complex, type 1EnrichmentPRKAR1A2.02
157Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.02
158Developmental and epileptic encephalopathy 27EnrichmentGRIN2B2.02
159Spinocerebellar ataxia, autosomal recessive 13EnrichmentGRM12.02
160Noonan syndrome 13EnrichmentMAPK12.02
161Developmental and epileptic encephalopathy 58EnrichmentNTRK22.02
162Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.02
163Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.02
164Short syndromeEnrichmentPIK3R12.02
165Intellectual developmental disorder, x-linked, syndromic, wu typeEnrichmentGRIA32.02
166Retinal cone dystrophy 4EnrichmentCACNA2D42.02
167Cardioacrofacial dysplasia 2EnrichmentPRKACB2.02
168Myxoma, intracardiacEnrichmentPRKAR1A2.02
169Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN12.02
170Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B2.02
171Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.02
172Neurodevelopmental disorder with language impairment and behavioral abnormalitiesEnrichmentGRIA22.02
173Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.02
174Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.02
175Developmental and epileptic encephalopathy 101EnrichmentGRIN12.02
176Obesity, hyperphagia, and developmental delayEnrichmentNTRK22.02
177Developmental and epileptic encephalopathy 110EnrichmentCACNA2D12.02
178Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN12.02
179Neurodevelopmental disorder with or without seizures and gait abnormalitiesEnrichmentGRIA42.02
180Cardioacrofacial dysplasia 1EnrichmentPRKACA2.02
181Thrombocytopenia 6EnrichmentSRC2.02
182Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA12.02
183Spinocerebellar ataxia 44EnrichmentGRM12.02
184Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalitiesEnrichmentGRM72.02
185Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.02
186Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA12.02
187Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.02
188Syndromic x-linked intellectual disability 94EnrichmentGRIA32.02
189Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.02
190Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B2.02
191Landau-kleffner syndromeEnrichmentGRIN2A2.02
192Intellectual disability, autosomal dominant 8EnrichmentGRIN12.02
193Gria2-related neurodevelopmental disorderEnrichmentGRIA22.02
194Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A2.02
195Grin2a-related disordersEnrichmentGRIN2A2.02
196Chondromyxoid fibromaEnrichmentGRM12.02
197Oculoectodermal syndromeEnrichmentKRAS2.02
198Pallister-killian syndromeEnrichmentARAF2.02
199Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing lossEnrichmentATP1A32.02
200Noonan syndrome 5EnrichmentRAF12.02
201Noonan syndrome 4EnrichmentSOS12.02
202Melorheostosis, isolatedEnrichmentMAP2K12.02
203Noonan syndrome 7EnrichmentBRAF2.02
204Leopard syndrome 3EnrichmentBRAF2.02
205Cardiomyopathy, dilated, 1nnEnrichmentRAF12.02
206Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.02
207Lichtenstein-knorr syndromeEnrichmentSLC9A12.02
208Noonan syndrome 9EnrichmentSOS22.02
209Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiencyEnrichmentAHCY2.02
210Alternating hemiplegia of childhood 2EnrichmentATP1A32.02
211Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic faciesEnrichmentATP1A22.02
212Developmental and epileptic encephalopathy 99EnrichmentATP1A32.02
213Delpire-mcneill syndromeEnrichmentSLC12A22.02
214Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.02
215LymphangiomaEnrichmentBRAF2.02
216Phace associationEnrichmentBRAF2.02
217MelorheostosisEnrichmentMAP2K12.02
218Leopard syndrome 2EnrichmentRAF12.02
219Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.02
220Deafness, autosomal dominant 78EnrichmentSLC12A22.02
221Kilquist syndromeEnrichmentSLC12A22.02
222Developmental and epileptic encephalopathy 98EnrichmentATP1A22.02
223TrigonitisEnrichmentRAF12.02
224Atp1a3-related disorderEnrichmentATP1A32.02
225Oculogyric crisisEnrichmentATP1A32.02
226Congenital pulmonary airway malformationEnrichmentKRAS2.02
227HemiplegiaEnrichmentATP1A32.02
228Syringocystadenoma papilliferumEnrichmentBRAF2.02
229GangliogliomaEnrichmentBRAF2.02
230Nongerminomatous germ cell tumorEnrichmentBRAF2.02
231Phace syndromeEnrichmentBRAF2.02
232Classic hairy cell leukemiaEnrichmentBRAF2.02
233Sudden infant death syndromeEnrichmentSCN1A, SCN5A1.96
234Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS, SCN1A1.93
235Congenital myopathyEnrichmentACTA1, SCN4A1.87
236Arteriovenous malformations of the brainEnrichmentBRAF, KRAS1.85
237Myeloma, multipleEnrichmentBRAF, KRAS, PIK3R21.77
238Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, GRIN1, GRM71.73
239Atrial standstill 1EnrichmentSCN5A1.73
240Progressive familial heart block, type iaEnrichmentSCN5A1.73
241Paramyotonia congenitaEnrichmentSCN4A1.73
242Pseudohypoparathyroidism, type iaEnrichmentGNAS1.73
243Immunoerythromyeloid hypoplasiaEnrichmentAK21.73
244Indifference to pain, congenital, autosomal recessiveEnrichmentSCN9A1.73
245Reticular dysgenesisEnrichmentAK21.73
246Spermatogenic failure, y-linked, 2EnrichmentCFTR1.73
247Dent disease 1EnrichmentCLCN51.73
248Polymyoclonus, infantileEnrichmentSCNN1B1.73
249Hyperaldosteronism, familial, type iiEnrichmentCLCN21.73
250Osteopetrosis, autosomal recessive 4EnrichmentCLCN71.73
251Nephrolithiasis, x-linked recessive, with renal failureEnrichmentCLCN51.73
252Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.73
253Aortic aneurysm, familial thoracic 2EnrichmentACTA21.73
254PseudopseudohypoparathyroidismEnrichmentGNAS1.73
255Seizures, benign familial infantile, 3EnrichmentSCN2A1.73
256Sick sinus syndrome 1EnrichmentSCN5A1.73
257Myotonia, potassium-aggravatedEnrichmentSCN4A1.73
258Deafness, autosomal dominant 20EnrichmentACTG11.73
259Smooth muscle dysfunction syndromeEnrichmentACTA21.73
260Birk-barel syndromeEnrichmentKCNK91.73
261Aortic aneurysm, familial thoracic 6EnrichmentACTA21.73
262Baraitser-winter syndrome 2EnrichmentACTG11.73
263Lethal congenital contracture syndrome 8EnrichmentADCY61.73
264Atrial fibrillation, familial, 10EnrichmentSCN5A1.73
265Moyamoya disease 5EnrichmentACTA21.73
266Migraine, familial hemiplegic, 3EnrichmentSCN1A1.73
267Cognitive impairment with or without cerebellar ataxiaEnrichmentSCN8A1.73
268Epilepsy, nocturnal frontal lobe, 5EnrichmentKCNT11.73
269Leukoencephalopathy with ataxiaEnrichmentCLCN21.73
270Long qt syndrome 3EnrichmentSCN5A1.73
271Developmental and epileptic encephalopathy 15EnrichmentKCNT11.73
272Developmental and epileptic encephalopathy 6bEnrichmentSCN1A1.73
273Sinoatrial node diseaseEnrichmentSCN5A1.73
274Hypophosphatemic rickets, x-linked recessiveEnrichmentCLCN51.73
275Periventricular nodular heterotopia 8EnrichmentARF11.73
276Immunodeficiency, common variable, 15EnrichmentSEC61A11.73
277Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeEnrichmentKCNK41.73
278Congenital myopathy 22a, classicEnrichmentSCN4A1.73
279Congenital myopathy 22b, severe fetalEnrichmentSCN4A1.73
280Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosisEnrichmentCLCN51.73
281Retinitis pigmentosa 49EnrichmentCNGA11.73
282Myasthenic syndrome, congenital, 16EnrichmentSCN4A1.73
283Benign familial neonatal epilepsyEnrichmentSCN2A1.73
284PseudohypoparathyroidismEnrichmentGNAS1.73
285Developmental and epileptic encephalopathy 30EnrichmentSCN2A1.73
286Body mass index quantitative trait locus 19EnrichmentADCY31.73
287Neurogenic bladderEnrichmentCLCN61.73
288Respiratory system diseaseEnrichmentCLCN61.73
289Ocular melanomaEnrichmentPLCB41.73
290Anemia, congenital, nonspherocytic hemolytic, 3EnrichmentAK11.73
291Epilepsy, progressive myoclonic, 3, with or without intracellular inclusionsEnrichmentKCTD71.73
292Hypokalemic periodic paralysis, type 2EnrichmentSCN4A1.73
293Scn1a seizure disordersEnrichmentSCN1A1.73
294Seizures, benign familial infantile, 5EnrichmentSCN8A1.73
295Developmental and epileptic encephalopathy 76EnrichmentSCN1A1.73
296Clcn2-related leukoencephalopathyEnrichmentCLCN21.73
297Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.73
298Small fiber neuropathyEnrichmentSCN9A1.73
299Benign neonatal seizuresEnrichmentSCN2A1.73
300Isolated atrial standstillEnrichmentSCN5A1.73
301OsteosclerosisEnrichmentCLCN71.73
302PseudohypoaldosteronismEnrichmentSCNN1A1.73
303Intestinal obstructionEnrichmentACTG21.73
304Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.72
305Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.72
306Histiocytoma, angiomatoid fibrousEnrichmentCREB11.72
307Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.72
308Spermatogenic failure 17EnrichmentPLCZ11.72
309Spinocerebellar ataxia 23EnrichmentPDYN1.72
310Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.72
311Usher syndrome, type ivEnrichmentPRKAR1A1.72
312Bilateral generalized polymicrogyriaEnrichmentGRIN11.72
313Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.72
314Developmental and epileptic encephalopathy 46EnrichmentGRIN2D1.72
315AcrodysostosisEnrichmentPRKAR1A1.72
316Fibrolamellar carcinomaEnrichmentPRKACA1.72
317Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.72
318Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.72
319Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.72
320Epilepsy-aphasia spectrumEnrichmentGRIN2A1.72
321Seizures, benign familial neonatal, 1EnrichmentATP1A31.72
322Fibromatosis, gingival, 1EnrichmentSOS11.72
323Scoliosis, isolated 1EnrichmentMAPK71.72
324Migraine, familial hemiplegic, 2EnrichmentATP1A21.72
325Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.72
326Alternating hemiplegia of childhood 1EnrichmentATP1A21.72
327Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.72
328Neutrophilia, hereditaryEnrichmentPIP4K2B1.72
329Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.72
330Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.72
331Bartter syndrome, type 1, antenatalEnrichmentSLC12A11.72
332Charcot-marie-tooth disease, axonal, type 2ddEnrichmentATP1A11.72
333Familial hemiplegic migraineEnrichmentATP1A21.72
334Severe congenital neutropenia 7EnrichmentPIP4K2B1.72
335Hypomagnesemia, seizures, and impaired intellectual development 2EnrichmentATP1A11.72
336Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.72
337B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.72
338HypokalemiaEnrichmentSLC12A31.72
339Tafro syndromeEnrichmentMAP2K21.72
340Congenital stationary night blindnessEnrichmentCACNA2D4, GRM61.69
341Cone dystrophyEnrichmentCNGA3, KCNV21.67
342Mccune-albright syndromeEnrichmentGNAS1.55
343Myotonia congenita, autosomal dominantEnrichmentCLCN11.55
344Myotonia congenita, autosomal recessiveEnrichmentCLCN11.55
345Uvula, bifidEnrichmentARF31.55
346Epilepsy, nocturnal frontal lobe, 1EnrichmentKCNT11.55
347Nuchal bleb, familialEnrichmentCFTR1.55
348Generalized epilepsy with febrile seizures plus, type 2EnrichmentSCN1A1.55
349Developmental and epileptic encephalopathy 13EnrichmentSCN8A1.55
350Generalized epilepsy with febrile seizures plus, type 7EnrichmentSCN9A1.55
351Tremor, hereditary essential, 6EnrichmentSCN4A1.55
352Dent diseaseEnrichmentCLCN51.55
353Osteopetrosis, autosomal recessive 6EnrichmentCLCN71.55
354Ciliary dyskinesia, primary, 28EnrichmentKCNT11.55
355Gingival overgrowthEnrichmentKCNK41.55
356KyphosisEnrichmentARF31.55
357Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.55
358Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.55
359Hereditary episodic ataxiaEnrichmentSCN2A1.55
360Night blindness, congenital stationary, type 1bEnrichmentGRM61.54
361Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.54
362Nephrotic syndrome, type 3EnrichmentPLCE11.54
363Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.54
364Auditory neuropathy and optic atrophyEnrichmentGRIN2C1.54
365Immunodeficiency 14EnrichmentPIK3R11.54
366Melanoma of soft tissueEnrichmentCREB11.54
367Ataxia-telangiectasiaEnrichmentBRAF1.54
368Tethered spinal cord syndromeEnrichmentBRAF1.54
369Differentiated thyroid carcinomaEnrichmentBRAF, KRAS1.50
370Complex neurodevelopmental disorderEnrichmentGRIA4, GRIN2B, SCN2A, SCN8A1.49
371Stargardt disease 1EnrichmentCNGB3, KCNV21.49
372Cystic fibrosisEnrichmentCFTR, CLCA41.44
373Chorea, benign hereditaryEnrichmentADCY51.43
374Nemaline myopathy 2EnrichmentACTA11.43
375Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.43
376Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentSCN9A1.43
377Pseudohypoparathyroidism, type ibEnrichmentGNAS1.43
378Autoimmune lymphoproliferative syndromeEnrichmentACTA21.43
379Hypophosphatemic rickets, x-linked dominantEnrichmentCLCN51.43
380Smith-lemli-opitz syndromeEnrichmentCLCN11.43
381Auriculocondylar syndrome 1EnrichmentPLCB41.43
382Ventricular fibrillation, paroxysmal familial, 1EnrichmentSCN5A1.43
383Long qt syndrome 2EnrichmentSCN5A1.43
384Aminoacylase 1 deficiencyEnrichmentACTB1.43
385Hereditary sensory and autonomic neuropathy type 2EnrichmentSCN9A1.43
386Developmental and epileptic encephalopathy 52EnrichmentSCN1B1.43
387Atrial fibrillationEnrichmentSCN5A1.43
388Hereditary ataxiaEnrichmentPRKCG1.43
389Color blindnessEnrichmentCNGA31.43
390Sotos syndrome 1EnrichmentSCN4A1.43
391Episodic ataxiaEnrichmentSCN2A1.43
392Autosomal recessive osteopetrosisEnrichmentCLCN71.43
393Sick sinus syndromeEnrichmentSCN5A1.43
394Intermediate nemaline myopathyEnrichmentACTA11.43
395Paroxysmal familial ventricular fibrillationEnrichmentSCN5A1.43
396Familial sick sinus syndromeEnrichmentSCN5A1.43
397Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.43
398Lung cancerEnrichmentBRAF, KRAS1.42
399AstigmatismEnrichmentGRIN2B1.42
400Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.42
401Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.42
402Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.42
403Carney complex variantEnrichmentPRKAR1A1.42
404Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.42
405Congenital generalized lipodystrophyEnrichmentFOS1.42
406Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.42
407Idiopathic achalasiaEnrichmentNOS11.42
408Schimmelpenning-feuerstein-mims syndromeEnrichmentKRAS1.42
409Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.42
410Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.42
411Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.42
412Lung sarcomatoid carcinomaEnrichmentKRAS1.42
413Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.42
414CraniopharyngiomaEnrichmentBRAF1.42
415Pilocytic astrocytomaEnrichmentKRAS1.42
416Newborn respiratory distress syndromeEnrichmentBRAF1.42
417Gingival fibromatosisEnrichmentSOS11.42
418Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.42
419Dilated cardiomyopathyEnrichmentBRAF, RAF1, SCN5A1.37
420Eye diseaseEnrichmentCNGA3, CNGB31.37
421DystoniaEnrichmentCAMK2B, GRIA31.35
422Left ventricular noncompactionEnrichmentRAF1, SCN5A1.35
423Sotos syndromeEnrichmentSCN4A1.33
424Visceral myopathy 1EnrichmentACTG21.33
425Congenital myopathy 3 with rigid spineEnrichmentACTA11.33
426Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentSCN8A1.33
427Heart conduction diseaseEnrichmentSCN5A1.33
428OsteopetrosisEnrichmentCLCN71.33
429Macular degenerationEnrichmentCNGA31.33
430Coloboma of choroid and retinaEnrichmentACTG11.33
431Sensory peripheral neuropathyEnrichmentSCN11A1.33
432Severe congenital nemaline myopathyEnrichmentACTA11.33
433Night blindness, congenital stationary, type 1cEnrichmentGRM61.32
434Histiocytoid hemangiomaEnrichmentFOS1.32
435Congenital short qt syndromeEnrichmentCACNA2D11.32
436Sleep disorderEnrichmentGRIN2B1.32
437Gitelman syndromeEnrichmentSLC12A31.32
438Cerebral palsyEnrichmentCLCN1, CLCN21.28
439Melanoma, uvealEnrichmentPLCB41.26
440Moyamoya disease 1EnrichmentACTA21.26
441Metachromatic leukodystrophyEnrichmentCLCN11.26
442Intestinal pseudo-obstructionEnrichmentACTG21.26
443Pain disorderEnrichmentSCN4A1.26
444Typical nemaline myopathyEnrichmentACTA11.26
445Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.25
446Adrenocortical carcinomaEnrichmentPRKAR1A1.25
447Wilms tumor 5EnrichmentBRAF1.25
448Breast adenocarcinomaEnrichmentKRAS1.25
449Lung squamous cell carcinomaEnrichmentKRAS1.25
450Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentSCN3A1.19
451BrachydactylyEnrichmentGNAS1.19
452Autosomal dominant sleep-related hypermotor epilepsyEnrichmentKCNT11.19
453Childhood-onset nemaline myopathyEnrichmentACTA11.19
454Optic atrophy plus syndromeEnrichmentCNGA3, CNGB31.19
455MyelofibrosisEnrichmentSRC1.18
456Overgrowth syndromeEnrichmentPIK3R11.18
457Nevus, epidermalEnrichmentKRAS1.18
458Thyroid cancer, nonmedullary, 2EnrichmentBRAF1.18
459Leukemia, chronic myeloidEnrichmentKRAS1.18
460Follicular thyroid carcinomaEnrichmentBRAF1.18
461Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.14
462Lymphoma, non-hodgkin, familialEnrichmentBRAF1.13
463Vas deferens, congenital bilateral aplasia ofEnrichmentCFTR1.09
464Inflammatory bowel disease 1EnrichmentPRKCQ1.09
465Myoclonic-atonic epilepsyEnrichmentSCN1A1.09
466Bilateral perisylvian polymicrogyriaEnrichmentSCN3A1.09
467Primary hyperaldosteronismEnrichmentGNAS1.09
468Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentSCN5A1.09
469Nephrotic syndrome, type 1EnrichmentPLCE11.08
470Congenital central hypoventilation syndromeEnrichmentBDNF1.08
471Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.08
472Arteriovenous malformationEnrichmentMAP2K11.08
473Ventricular septal defectEnrichmentBRAF1.08
474Autism spectrum disorderEnrichmentGRIA1, GRIN2B, SCN2A1.05
475Cat eye syndromeEnrichmentACTG11.04
476Stroke, ischemicEnrichmentPRKCH1.04
477Nemaline myopathyEnrichmentACTA11.04
478Progressive myoclonus epilepsyEnrichmentKCTD71.04
479Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.03
480Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.03
481NephrocalcinosisEnrichmentSLC12A11.03
482MelanomaEnrichmentBRAF1.03
483NephrolithiasisEnrichmentSLC12A11.03
484Spastic ataxiaEnrichmentATP1A2, SCN2A1.03
485Familial isolated dilated cardiomyopathyEnrichmentRAF1, SCN5A1.03
486Migraine with or without aura 1EnrichmentCLCN11.00
487Pectus excavatumEnrichmentARF31.00
488Epilepsy, myoclonic juvenileEnrichmentCLCN21.00
489Heritable pulmonary arterial hypertensionEnrichmentKCNK31.00
490Specific learning disabilityEnrichmentMAPK10.99
491Congenital long qt syndromeEnrichmentSCN5A0.97
492Postsynaptic congenital myasthenic syndromesEnrichmentSCN4A0.97
493EpicanthusEnrichmentATP1A30.96
494Juvenile myelomonocytic leukemiaEnrichmentKRAS0.96
495Lip and oral cavity carcinomaEnrichmentBRAF0.96
496Pulmonary hypertension, primary, 1EnrichmentKCNK30.94
497Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.94
498Acute promyelocytic leukemiaEnrichmentPRKAR1A0.93
499Aortic valve disease 1EnrichmentSOS10.93
500Myoclonic epilepsy of unverricht and lundborgEnrichmentKCTD70.91
501Periventricular nodular heterotopiaEnrichmentARF10.91
502Hereditary chronic pancreatitisEnrichmentCFTR0.91
503OsteoporosisEnrichmentSRC0.90
50446,xy partial gonadal dysgenesisEnrichmentSOS10.90
505Congenital myopathy 4a, autosomal dominantEnrichmentACTA10.88
506Neuronal ceroid lipofuscinosisEnrichmentKCTD70.88
507Lynch syndromeEnrichmentCFTR0.88
508Wilms tumor 1EnrichmentBRAF0.87
509Hereditary retinal dystrophyEnrichmentCNGA1, CNGA3, CNGB1, CNGB3, KCNV20.86
510Fundus dystrophyEnrichmentCNGA1, CNGA3, CNGB1, CNGB3, KCNV20.86
511Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentKCTD30.85
512Wolff-parkinson-white syndromeEnrichmentSCN5A0.85
513Arrhythmogenic right ventricular cardiomyopathyEnrichmentSCN5A0.85
514Hydrocephalus, congenital, 1EnrichmentATP1A30.84
515Pancreatitis, hereditaryEnrichmentCFTR0.83
516Cardiomyopathy, dilated, 1eEnrichmentSCN5A0.83
517Polycystic liver diseaseEnrichmentSEC61A10.83
518Autosomal dominant polycystic liver diseaseEnrichmentSEC61A10.83
519Hypertension, essentialEnrichmentATP1B10.82
520Melanoma, cutaneous malignant 1EnrichmentBRAF0.82
521Dandy-walker syndromeEnrichmentBRAF0.82
522Heart, malformation ofEnrichmentARF30.80
523Neuromuscular diseaseEnrichmentACTA10.80
524Diffuse large b-cell lymphomaEnrichmentBRAF0.77
525CraniosynostosisEnrichmentGRIN2B0.75
526Focal segmental glomerulosclerosisEnrichmentPLCE10.75
527LissencephalyEnrichmentACTG10.74
528Centronuclear myopathyEnrichmentACTA10.74
529Myocardial infarctionEnrichmentCLCN10.72
530Skin diseaseEnrichmentCLCN60.72
531MalariaEnrichmentSCN8A0.71
532Non-syndromic male infertility due to sperm motility disorderEnrichmentAK70.71
533ScoliosisEnrichmentARF30.69
534Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, CLIC50.69
535Colorectal cancerEnrichmentPIK3R1, SRC0.69
536Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.68
537Pancreatic cancerEnrichmentKRAS0.67
538Hydrops fetalis, nonimmuneEnrichmentACTA10.66
539Bladder cancerEnrichmentKRAS0.61
540Long qt syndromeEnrichmentSCN5A0.59
541Non-immune hydrops fetalisEnrichmentACTA10.59
542Connective tissue diseaseEnrichmentACTA20.58
543Severe combined immunodeficiencyEnrichmentAK20.57
544Congenital nervous system abnormalityEnrichmentCAMK2B, KCNV20.56
545Nervous system diseaseEnrichmentCAMK2B, KCNV20.56
546Familial hypertrophic cardiomyopathyEnrichmentRAF10.56
547Male infertilityEnrichmentCFTR0.56
548CakutEnrichmentACTG10.56
549Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.55
550Non-syndromic x-linked intellectual disabilityEnrichmentCLCN40.54
551Non-syndromic genetic deafnessEnrichmentACTG10.54
552Leukemia, acute myeloidEnrichmentKRAS0.49
553Retinitis pigmentosaEnrichmentCNGA1, CNGB1, CNGB30.49
554Nonsyndromic hearing lossEnrichmentACTG10.48
555Nephrotic syndromeEnrichmentCLCN50.47
556Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA20.47
557Gastric cancerEnrichmentKRAS0.47
558Hereditary breast carcinomaEnrichmentKRAS0.46
559ThrombocytopeniaEnrichmentSRC0.43
560Sensorineural hearing lossEnrichmentSLC12A20.43
561Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.41
562Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentCFTR0.38
563Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.38
564Deafness, autosomal recessiveEnrichmentCLIC50.35
565Autosomal recessive nonsyndromic deafnessEnrichmentCLIC50.34
566Breast cancerEnrichmentCACNA2D10.29
567Primary ciliary dyskinesiaEnrichmentPRKAR1B0.28
568Rare genetic deafnessEnrichmentACTG10.28
569Leber plus diseaseEnrichmentCNGB30.23
570Ovarian cancerEnrichmentKRAS0.20
571Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.14

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