G-Beta Gamma Signaling

Pathway network for the G-Beta Gamma Signaling SuperPath

Sources:
  • QIAGEN

Pathways in the G-Beta Gamma Signaling SuperPath

#NameSourceGenes
1G-Beta Gamma SignalingQIAGEN
2CRHR PathwayQIAGEN
3GHRH SignalingQIAGEN

Gene overlap in member pathways for G-Beta Gamma Signaling SuperPath

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

Disorders associated with G-Beta Gamma Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SCNN1A11.72
2RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS211.07
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS110.73
4Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.70
5Lung non-small cell carcinomaEnrichmentBRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS9.69
6Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.22
7Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.22
8Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D2, GNAO1, SCN1A, SCN2A, SCN3A, SCN8A7.91
9Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS16.69
10Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, SCN1A, SCN1B, SCN3A, SCN8A6.52
11Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF16.39
12Liddle syndrome 1EnrichmentSCNN1A, SCNN1B, SCNN1G6.30
13Pseudohypoaldosteronism, type ib1, autosomal recessiveEnrichmentSCNN1A, SCNN1B, SCNN1G6.30
14Hereditary sodium channelopathy-related small fibers neuropathyEnrichmentSCN10A, SCN11A, SCN9A6.30
15Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS6.16
16Dravet syndromeEnrichmentSCN1A, SCN1B, SCN2A, SCN9A6.10
17Familial atrial fibrillationEnrichmentSCN1B, SCN2B, SCN3B, SCN4B, SCN5A5.94
18Erythermalgia, primaryEnrichmentSCN10A, SCN11A, SCN9A5.70
19Idiopathic bronchiectasisEnrichmentSCNN1A, SCNN1B, SCNN1G5.70
20Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.56
21Long qt syndrome 1EnrichmentCACNA1C, ITPR3, SCN10A, SCN4B, SCN5A5.43
22Generalized epilepsy with febrile seizures plusEnrichmentSCN1A, SCN1B, SCN2A, SCN9A5.43
23Paroxysmal extreme pain disorderEnrichmentSCN10A, SCN11A, SCN9A5.30
24Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D4, GNAT2, GUCY2D4.83
25Brugada syndrome 1EnrichmentCACNA2D1, SCN10A, SCN5A4.76
26Neuropathy, hereditary sensory and autonomic, type vEnrichmentSCN10A, SCN11A, SCN9A4.76
27Benign epilepsy with centrotemporal spikesEnrichmentPLCB1, SCN1A, SCN1B, SCN2A, SCN9A4.74
28Polydactyly, postaxial, type a1EnrichmentEP300, GLI1, GLI3, PTCH14.70
29Centralopathic epilepsyEnrichmentPLCB1, SCN1A, SCN1B, SCN2A, SCN9A4.64
30Nevus, epidermalEnrichmentHRAS, KRAS, NRAS4.63
31Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS4.63
32Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.63
33Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS4.63
34West syndromeEnrichmentGNAO1, PLCB1, SCN1A, SCN2A, SCN8A4.59
35Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D4, GNAT1, GNB34.51
36Developmental and epileptic encephalopathy 14EnrichmentPLCB1, SCN1A, SCN2A4.39
37Primary hyperaldosteronismEnrichmentBRAF, CACNA1H, GNAS4.25
38Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A4.19
39Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.11
40Pulmonic stenosisEnrichmentBRAF, SOS14.10
41Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.10
42Cardiac conduction defectEnrichmentCACNA1C, SCN1B, SCN5A3.98
43Ellis-van creveld syndromeEnrichmentGLI1, PRKACA, PRKACB3.94
44Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS3.92
45Postaxial polydactyly type bEnrichmentGLI1, GLI33.89
46Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS3.84
47Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, HRAS3.84
48Generalized epilepsy with febrile seizures plus, type 1EnrichmentSCN1A, SCN1B3.72
49Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C3.72
50Isolated growth hormone deficiency, type ibEnrichmentGH1, GHRHR3.72
51Anastomosing haemangiomaEnrichmentGNA11, GNA143.72
52Hereditary episodic ataxiaEnrichmentCACNA1A, SCN2A3.72
53Rare genetic intellectual disabilityEnrichmentCREBBP, EP300, GNAO13.67
54Lung cancer susceptibility 3EnrichmentBRAF, EGFR, KRAS3.63
55Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3R13.63
56Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.63
57EpilepsyEnrichmentSCN1A, SCN2A, SCN3A, SCN8A3.54
58Early infantile developmental and epileptic encephalopathyEnrichmentGNAO1, SCN1B, SCN2A3.42
59Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.42
60Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C, SCN5A3.42
61Developmental and epileptic encephalopathy 12EnrichmentPLCB1, SCN2A3.42
62Achromatopsia 4EnrichmentGNAI3, GNAT23.42
63Developmental and epileptic encephalopathy 52EnrichmentCACNA1A, SCN1B3.42
64Episodic ataxiaEnrichmentCACNA1A, SCN2A3.42
65Hereditary progressive cardiac conduction defectEnrichmentSCN1B, SCN5A3.42
66Familial or sporadic hemiplegic migraineEnrichmentCACNA1A, SCN1A3.42
67Familial sick sinus syndromeEnrichmentGNB2, SCN5A3.42
68Long qt syndromeEnrichmentCACNA1C, CACNA1S, CALM1, CALM23.40
69Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.33
70Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.33
71Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.33
72Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.33
73Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, KRAS3.22
74Heart conduction diseaseEnrichmentCACNA1C, SCN5A3.20
75Cardiac arrestEnrichmentCACNA2D1, SCN5A3.20
76Self-limited infantile epilepsyEnrichmentSCN2A, SCN8A3.20
77Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, GNB1, SCN8A3.17
78Spastic ataxiaEnrichmentCACNA1G, CACNB4, ITPR1, SCN2A3.07
79Melanoma, uvealEnrichmentGNA11, PLCB43.03
80Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S, SCN4A3.03
81Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.03
82Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.03
83Developmental and epileptic encephalopathy 1EnrichmentGNAO1, SCN1A, SCN8A2.99
84Colorectal cancerEnrichmentAKT1, BRAF, NRAS, PIK3R1, SRC2.97
85Breast adenocarcinomaEnrichmentAKT1, KRAS2.94
86Lung squamous cell carcinomaEnrichmentEGFR, KRAS2.94
87Focal epilepsyEnrichmentSCN2A, SCN8A2.88
88CraniosynostosisEnrichmentGLI2, GLI3, NPR22.85
89Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.79
90Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.79
91Gallbladder cancerEnrichmentBRAF, KRAS2.79
92Lennox-gastaut syndromeEnrichmentCACNA1A, SCN1A2.76
93Alternating hemiplegia of childhoodEnrichmentCACNA1A, SCN2A2.76
94Basal cell nevus syndrome 1EnrichmentPTCH1, PTCH22.73
95Basal cell carcinoma 1EnrichmentPTCH1, PTCH22.73
96Adrenocortical carcinomaEnrichmentCDKN2A, PRKAR1A2.73
97Bladder cancerEnrichmentEGFR, HRAS, KRAS2.67
98Cone dystrophyEnrichmentCACNA2D4, GNAT2, GUCY2D2.61
99Body mass index quantitative trait locus 11EnrichmentADCY3, BDNF, GNAS, POMC2.61
100AutismEnrichmentCREBBP, SCN1A, SCN2A, SCN8A2.57
101Arteriovenous malformationEnrichmentHRAS, MAP2K12.56
102Eye diseaseEnrichmentCACNA1F, CACNA2D4, GNAT22.56
103Lung cancerEnrichmentBRAF, EGFR, KRAS2.55
104Fetal akinesia deformation sequence 1EnrichmentSCN4A, SCN5A, SCN8A2.49
105Movement diseaseEnrichmentGNAO1, SCN2A2.47
106Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K12.47
107Cerebral palsyEnrichmentCACNA1A, CACNA1C, GNB12.43
108Congenital long qt syndromeEnrichmentITPR3, SCN5A2.40
109Breast cancerEnrichmentAKT1, CACNA2D1, GNG3, KRAS2.35
110Distal arthrogryposisEnrichmentSCN4A, SCN5A, SCN8A2.34
111Stroke, ischemicEnrichmentNOS3, PRKCH2.27
112MelanomaEnrichmentBRAF, CDKN2A2.27
113Leukemia, acute lymphoblasticEnrichmentCDKN2A, GNB12.18
114Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.09
115Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.09
116Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.09
117Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.09
118Pseudohypoparathyroidism, type icEnrichmentGNAS2.09
119Epilepsy, idiopathic generalized 9EnrichmentCACNB42.09
120Carney complex, type 1EnrichmentPRKAR1A2.09
121Brugada syndrome 4EnrichmentCACNB22.09
122Brugada syndrome 5EnrichmentSCN1B2.09
123Osseous heteroplasia, progressiveEnrichmentGNAS2.09
124Bronchiectasis with or without elevated sweat chloride 2EnrichmentSCNN1A2.09
125Bronchiectasis with or without elevated sweat chloride 3EnrichmentSCNN1G2.09
126Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD12.09
127Long qt syndrome 10EnrichmentSCN4B2.09
128Episodic pain syndrome, familial, 3EnrichmentSCN11A2.09
129Developmental and epileptic encephalopathy 11EnrichmentSCN2A2.09
130Neuropathy, hereditary sensory and autonomic, type viiEnrichmentSCN11A2.09
131Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO12.09
132Deafness, autosomal recessive 44EnrichmentADCY12.09
133Episodic ataxia, type 5EnrichmentCACNB42.09
134Ventricular tachycardia, familialEnrichmentGNAI22.09
135Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS2.09
136Atrial fibrillation, familial, 14EnrichmentSCN2B2.09
137Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.09
138Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.09
139Pseudohypoaldosteronism, type ib2, autosomal recessiveEnrichmentSCNN1B2.09
140Pituitary adenoma 3, multiple typesEnrichmentGNAS2.09
141Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.09
142Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I2.09
143Liddle syndrome 2EnrichmentSCNN1G2.09
144Congenital myopathy 18EnrichmentCACNA1S2.09
145Myoclonus, familial, 2EnrichmentSCN8A2.09
146Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.09
147Developmental and epileptic encephalopathy 62EnrichmentSCN3A2.09
148Liddle syndrome 3EnrichmentSCNN1A2.09
149Auriculocondylar syndrome 2aEnrichmentPLCB42.09
150Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F2.09
151Retinal cone dystrophy 4EnrichmentCACNA2D42.09
152Cardioacrofacial dysplasia 2EnrichmentPRKACB2.09
153Atrial fibrillation, familial, 13EnrichmentSCN1B2.09
154Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.09
155Myxoma, intracardiacEnrichmentPRKAR1A2.09
156Developmental and epileptic encephalopathy 17EnrichmentGNAO12.09
157Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.09
158Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.09
159Brugada syndrome 3EnrichmentCACNA1C2.09
160Epilepsy, childhood absence 6EnrichmentCACNA1H2.09
161Malignant hyperthermia 5EnrichmentCACNA1S2.09
162Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT12.09
163Episodic ataxia, type 9EnrichmentSCN2A2.09
164Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG22.09
165Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.09
166Episodic pain syndrome, familial, 2EnrichmentSCN10A2.09
167Dystonia 25EnrichmentGNAL2.09
168Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.09
169Night blindness, congenital stationary, type 1gEnrichmentGNAT12.09
170Hypocalcemia, autosomal dominant 2EnrichmentGNA112.09
171Benign familial infantile epilepsyEnrichmentSCN2A2.09
172Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.09
173Brugada syndrome 7EnrichmentSCN3B2.09
174Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.09
175Spinocerebellar ataxia 42EnrichmentCACNA1G2.09
176Developmental and epileptic encephalopathy 110EnrichmentCACNA2D12.09
177Disorders of gnas inactivationEnrichmentGNAS2.09
178Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.09
179Epilepsy, familial focal, with variable foci 4EnrichmentSCN3A2.09
180Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G2.09
181Cardioacrofacial dysplasia 1EnrichmentPRKACA2.09
182Developmental and epileptic encephalopathy 69EnrichmentCACNA1E2.09
183Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.09
184Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.09
185Isolated growth hormone deficiency, type ivEnrichmentGHRHR2.09
186Sick sinus syndrome 4EnrichmentGNB22.09
187Menke-hennekam syndrome 1EnrichmentCREBBP2.09
188Muscular channelopathyEnrichmentSCN4A2.09
189Auriculocondylar syndrome 2bEnrichmentPLCB42.09
190Pseudohypoaldosteronism, type ib3, autosomal recessiveEnrichmentSCNN1G2.09
191Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.09
192Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.09
193Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.09
194Conn's syndromeEnrichmentCACNA1H2.09
195Sporadic hemiplegic migraineEnrichmentCACNA1A2.09
196Atypical timothy syndromeEnrichmentCACNA1C2.09
197Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.09
198Menke-hennekam syndromeEnrichmentCREBBP2.09
199Monostotic fibrous dysplasiaEnrichmentGNAS2.09
200Timothy syndrome type 2EnrichmentCACNA1C2.09
201Gnao1-related disorderEnrichmentGNAO12.09
202Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.09
203Phakomatosis cesiomarmorataEnrichmentGNA112.09
204Kaposiform hemangioendotheliomaEnrichmentGNA142.09
205Mazabraud syndromeEnrichmentGNAS2.09
206Timothy syndrome type 1EnrichmentCACNA1C2.09
207Cacna1c-related disordersEnrichmentCACNA1C2.09
208Benign paroxysmal torticollis of infancyEnrichmentCACNA1A2.09
209Sudden infant death syndromeEnrichmentSCN1A, SCN5A2.09
210Proteus syndromeEnrichmentAKT12.05
211Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.05
212Oculoectodermal syndromeEnrichmentKRAS2.05
213Pallister-killian syndromeEnrichmentARAF2.05
214Noonan syndrome 5EnrichmentRAF12.05
215Noonan syndrome 4EnrichmentSOS12.05
216Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.05
217Long qt syndrome 13EnrichmentKCNJ52.05
218Melorheostosis, isolatedEnrichmentMAP2K12.05
219Noonan syndrome 7EnrichmentBRAF2.05
220Leopard syndrome 3EnrichmentBRAF2.05
221Cardiomyopathy, dilated, 1nnEnrichmentRAF12.05
222Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.05
223Melanosis, neurocutaneousEnrichmentNRAS2.05
224Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM22.05
225Noonan syndrome 9EnrichmentSOS22.05
226Noonan syndrome 6EnrichmentNRAS2.05
227Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.05
228Pulmonary hypertension, primary, 3EnrichmentCAV12.05
229Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.05
230Noonan syndrome 11EnrichmentMRAS2.05
231Noonan syndrome 13EnrichmentMAPK12.05
232Short syndromeEnrichmentPIK3R12.05
233Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.05
234Isolated growth hormone deficiency type iiiEnrichmentBTK2.05
235Intellectual developmental disorder, x-linked 46EnrichmentARHGEF62.05
236Hyperaldosteronism, familial, type iiiEnrichmentKCNJ52.05
237Lipodystrophy, familial partial, type 7EnrichmentCAV12.05
238Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.05
239Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.05
240LymphangiomaEnrichmentBRAF2.05
241Phace associationEnrichmentBRAF2.05
242Spinocerebellar ataxia 14EnrichmentPRKCG2.05
243MelorheostosisEnrichmentMAP2K12.05
244Leopard syndrome 2EnrichmentRAF12.05
245Lethal congenital contracture syndrome 5EnrichmentDNM22.05
246Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.05
247Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.05
248Cowden syndrome 6EnrichmentAKT12.05
249Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.05
250Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.05
251Thrombocytopenia 6EnrichmentSRC2.05
252Takenouchi-kosaki syndromeEnrichmentCDC422.05
253TrigonitisEnrichmentRAF12.05
254Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM22.05
255Capillary hemangiomaEnrichmentAKT32.05
256Congenital pulmonary airway malformationEnrichmentKRAS2.05
257Nocarh syndromeEnrichmentCDC422.05
258Syringocystadenoma papilliferumEnrichmentBRAF2.05
259GangliogliomaEnrichmentBRAF2.05
260Nongerminomatous germ cell tumorEnrichmentBRAF2.05
261Phace syndromeEnrichmentBRAF2.05
262Phakomatosis pigmentokeratoticaEnrichmentHRAS2.05
263Classic hairy cell leukemiaEnrichmentBRAF2.05
264Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.05
265Neurocutaneous melanocytosisEnrichmentNRAS2.05
266Akt2-related familial partial lipodystrophyEnrichmentAKT22.05
267Congenital myopathyEnrichmentCACNA1S, SCN4A2.00
268Congenital nervous system abnormalityEnrichmentCACNA1A, CREBBP, GNAO1, GNB51.98
269Nervous system diseaseEnrichmentCACNA1A, CREBBP, GNAO1, GNB51.98
270MedulloblastomaEnrichmentPTCH1, PTCH21.97
271Ichthyosis hystrix, curth-macklin typeEnrichmentKRT11.94
272Pallister-hall syndromeEnrichmentGLI31.94
273Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS11.94
274Greig cephalopolysyndactyly syndromeEnrichmentGLI31.94
275Palmoplantar keratoderma, nonepidermolyticEnrichmentKRT11.94
276Curry-jones syndromeEnrichmentSMO1.94
277Schilbach-rott syndromeEnrichmentPTCH11.94
278Polydactyly, preaxial ivEnrichmentGLI31.94
279Polydactyly, preaxial iEnrichmentGLI11.94
28046,xy sex reversal 6EnrichmentMAP3K11.94
281Culler-jones syndromeEnrichmentGLI21.94
282Ichthyosis, annular epidermolytic, 2EnrichmentKRT11.94
283Polydactyly, postaxial, type a8EnrichmentGLI11.94
284Hereditary lymphedema idEnrichmentVEGFC1.94
285Night blindness, congenital stationary, type1iEnrichmentGUCY2D1.94
286Lymphatic malformation 4EnrichmentVEGFC1.94
287Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C1.94
288Keratosis palmoplantaris striata iiiEnrichmentKRT11.94
289Microvascular complications of diabetes 1EnrichmentVEGFA1.94
290Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A1.94
291Holoprosencephaly 9EnrichmentGLI21.94
292Moyamoya disease 6 with or without achalasiaEnrichmentGUCY1A11.94
293Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.94
294Long qt syndrome 16EnrichmentCALM31.94
295Moyamoya disease with early-onset achalasiaEnrichmentGUCY1A11.94
296Long qt syndrome 15EnrichmentCALM21.94
297Cdkn2a cancer predispositionEnrichmentCDKN2A1.94
298Palmoplantar keratoderma, epidermolytic, 2EnrichmentKRT11.94
2995q14.3 microdeletion syndromeEnrichmentMEF2C1.94
300Cerebral cavernous malformations 5EnrichmentMAP3K31.94
301Turner syndromeEnrichmentPTCH11.94
302Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C1.94
303Congenital primary lymphedema of gordonEnrichmentVEGFC1.94
304Monosomy 9q22.3EnrichmentPTCH11.94
305Mef2c-related disorderEnrichmentMEF2C1.94
306Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeEnrichmentGLI21.94
307Verrucous hemangiomaEnrichmentMAP3K31.94
308Septopreoptic holoprosencephalyEnrichmentGLI2, PTCH11.91
309Midline interhemispheric variant of holoprosencephalyEnrichmentGLI2, PTCH11.91
310Diffuse large b-cell lymphomaEnrichmentBRAF, BTK1.91
311Ovarian cancerEnrichmentAKT1, EGFR, KRAS, RRAS21.90
312Myeloma, multipleEnrichmentBRAF, KRAS, PIK3R21.87
313Microform holoprosencephalyEnrichmentGLI2, PTCH11.86
314Lobar holoprosencephalyEnrichmentGLI2, PTCH11.86
315Centronuclear myopathyEnrichmentCACNA1S, DNM21.83
316Hypertension, essentialEnrichmentGNB3, NOS31.81
317Melanoma, cutaneous malignant 1EnrichmentBRAF, CDKN2A1.81
318Alobar holoprosencephalyEnrichmentGLI2, PTCH11.81
319Spinocerebellar ataxia 29EnrichmentITPR11.80
320Atrial standstill 1EnrichmentSCN5A1.80
321Progressive familial heart block, type iaEnrichmentSCN5A1.80
322Paramyotonia congenitaEnrichmentSCN4A1.80
323Pseudohypoparathyroidism, type iaEnrichmentGNAS1.80
324Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.80
325Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.80
326Batten-turner congenital myopathyEnrichmentSCN4A1.80
327Cutis marmorata telangiectatica congenitaEnrichmentGNA111.80
328Thumb deformityEnrichmentCREBBP1.80
329Indifference to pain, congenital, autosomal recessiveEnrichmentSCN9A1.80
330Polymyoclonus, infantileEnrichmentSCNN1B1.80
331Timothy syndromeEnrichmentCACNA1C1.80
332Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.80
333Histiocytoma, angiomatoid fibrousEnrichmentCREB11.80
334Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.80
335PseudopseudohypoparathyroidismEnrichmentGNAS1.80
336Seizures, benign familial infantile, 3EnrichmentSCN2A1.80
337Sick sinus syndrome 1EnrichmentSCN5A1.80
338Myotonia, potassium-aggravatedEnrichmentSCN4A1.80
339Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.80
340Angioma, tuftedEnrichmentGNA141.80
341Atrial fibrillation, familial, 10EnrichmentSCN5A1.80
342Night blindness, congenital stationary, type 1hEnrichmentGNB31.80
343Spermatogenic failure 17EnrichmentPLCZ11.80
344Migraine, familial hemiplegic, 3EnrichmentSCN1A1.80
345Cognitive impairment with or without cerebellar ataxiaEnrichmentSCN8A1.80
346Long qt syndrome 3EnrichmentSCN5A1.80
347Long qt syndrome 8EnrichmentCACNA1C1.80
348Developmental and epileptic encephalopathy 6bEnrichmentSCN1A1.80
349Sinoatrial node diseaseEnrichmentSCN5A1.80
350Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.80
351Congenital myopathy 22a, classicEnrichmentSCN4A1.80
352Congenital myopathy 22b, severe fetalEnrichmentSCN4A1.80
353Menke-hennekam syndrome 2EnrichmentEP3001.80
354Usher syndrome, type ivEnrichmentPRKAR1A1.80
355Kowarski syndromeEnrichmentGH11.80
356Myasthenic syndrome, congenital, 16EnrichmentSCN4A1.80
357Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.80
358Autosomal dominant hypocalcemiaEnrichmentGNA111.80
359AcrodysostosisEnrichmentPRKAR1A1.80
360Benign familial neonatal epilepsyEnrichmentSCN2A1.80
361PseudohypoparathyroidismEnrichmentGNAS1.80
362Developmental and epileptic encephalopathy 30EnrichmentSCN2A1.80
363Body mass index quantitative trait locus 19EnrichmentADCY31.80
364Fibrolamellar carcinomaEnrichmentPRKACA1.80
365Ocular melanomaEnrichmentPLCB41.80
366Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.80
367HypopituitarismEnrichmentGNAI21.80
368Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.80
369Hypokalemic periodic paralysis, type 2EnrichmentSCN4A1.80
370Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.80
371Scn1a seizure disordersEnrichmentSCN1A1.80
372Seizures, benign familial infantile, 5EnrichmentSCN8A1.80
373Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.80
374Malignant migrating partial seizures of infancyEnrichmentSCN2A1.80
375Developmental and epileptic encephalopathy 76EnrichmentSCN1A1.80
376Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.80
377Short stature due to growth hormone qualitative anomalyEnrichmentGH11.80
378Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.80
379Small fiber neuropathyEnrichmentSCN9A1.80
380Benign neonatal seizuresEnrichmentSCN2A1.80
381Isolated atrial standstillEnrichmentSCN5A1.80
382PseudohypoaldosteronismEnrichmentSCNN1A1.80
383Progressive bulbar palsyEnrichmentCACNA1A1.80
384Cerebral visual impairmentEnrichmentGNB11.80
385Phakomatosis cesioflammeaEnrichmentGNA111.80
386MicrocephalyEnrichmentEP300, GNAO1, GNB1, SCN1A1.76
387Semilobar holoprosencephalyEnrichmentGLI2, PTCH11.76
388Complex neurodevelopmental disorderEnrichmentCACNA1C, GNB2, SCN2A, SCN8A1.75
389Andersen cardiodysrhythmic periodic paralysisEnrichmentKCNJ51.75
390Fibromatosis, gingival, 1EnrichmentSOS11.75
391Costello syndromeEnrichmentHRAS1.75
392Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.75
393Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.75
394Keppen-lubinsky syndromeEnrichmentKCNJ61.75
395Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.75
396Agammaglobulinemia, x-linkedEnrichmentBTK1.75
397Noonan syndrome 12EnrichmentRRAS21.75
398Senior-loken syndrome 7EnrichmentAKT31.75
399Immune system diseaseEnrichmentCDC421.75
400Bardet-biedl syndrome 16EnrichmentAKT31.75
401Tafro syndromeEnrichmentMAP2K21.75
402Wooly hair nevusEnrichmentHRAS1.75
403Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, RAF11.72
404StrabismusEnrichmentCACNA1A, GNB11.71
405Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.65
406Pallister-hall-like syndromeEnrichmentSMO1.65
407Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathyEnrichmentKRT11.65
408Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.65
409Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.65
410White-sutton syndromeEnrichmentGLI21.65
411Epiphyseal chondrodysplasia, miura typeEnrichmentNPR21.65
412Long qt syndrome 14EnrichmentCALM11.65
413Tibial hemimeliaEnrichmentGLI31.65
414Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.65
415SynpolydactylyEnrichmentGLI31.65
416Acromesomelic dysplasia 1EnrichmentNPR21.65
417Commissural facial cleftEnrichmentPTCH21.65
418Mccune-albright syndromeEnrichmentGNAS1.62
419Dystonia 12EnrichmentSCN2A1.62
420Van der woude syndrome 1EnrichmentCACNA1E1.62
421Gillespie syndromeEnrichmentITPR11.62
422Nephrotic syndrome, type 3EnrichmentPLCE11.62
423Generalized epilepsy with febrile seizures plus, type 2EnrichmentSCN1A1.62
424Developmental and epileptic encephalopathy 13EnrichmentSCN8A1.62
425Generalized epilepsy with febrile seizures plus, type 7EnrichmentSCN9A1.62
426Tremor, hereditary essential, 6EnrichmentSCN4A1.62
427Tethered spinal cord syndromeEnrichmentCREBBP1.62
428Intraocular pressure quantitative trait locusEnrichmentCREBBP1.62
429Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.62
430Melanoma of soft tissueEnrichmentCREB11.62
431Thyrotoxic periodic paralysisEnrichmentCACNA1S1.62
432Ataxia-telangiectasiaEnrichmentBRAF1.58
433Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.58
434Nuchal bleb, familialEnrichmentSOS11.58
435Myopathy, centronuclear, x-linkedEnrichmentDNM21.58
436Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.58
437Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.58
438Agammaglobulinemia 1EnrichmentBTK1.58
439Immunodeficiency 14EnrichmentPIK3R11.58
440SpermatocytomaEnrichmentHRAS1.58
441Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.58
442Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.51
443Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.50
444Isolated growth hormone deficiency, type iiEnrichmentGH11.50
445Spinocerebellar ataxia 6EnrichmentCACNA1A1.50
446Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentSCN9A1.50
447Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.50
448Pseudohypoparathyroidism, type ibEnrichmentGNAS1.50
449Aland island eye diseaseEnrichmentCACNA1F1.50
450Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.50
451Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.50
452Carney complex variantEnrichmentPRKAR1A1.50
453Spinocerebellar ataxia 15EnrichmentITPR11.50
454Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.50
455Long qt syndrome 2EnrichmentSCN5A1.50
456Hyperkalemic periodic paralysisEnrichmentSCN4A1.50
457Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.50
458Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.50
459Hereditary sensory and autonomic neuropathy type 2EnrichmentSCN9A1.50
460Atrial fibrillationEnrichmentSCN5A1.50
461Sotos syndrome 1EnrichmentSCN4A1.50
462Malignant hyperthermiaEnrichmentCACNA1S1.50
463Sick sinus syndromeEnrichmentSCN5A1.50
464Paroxysmal familial ventricular fibrillationEnrichmentSCN5A1.50
465DystoniaEnrichmentGNAL, GNB11.49
466Palmoplantar keratoderma, epidermolytic, 1EnrichmentKRT11.47
467Acrocallosal syndromeEnrichmentGLI31.47
468Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.47
469Aarskog-scott syndromeEnrichmentGLI31.47
470Obesity, early-onset, with adrenal insufficiency and red hairEnrichmentPOMC1.47
471Ichthyosis with confettiEnrichmentKRT11.47
472Holoprosencephaly 7EnrichmentPTCH11.47
473Ichthyosis, annular epidermolytic, 1EnrichmentKRT11.47
474Epilepsy, familial focal, with variable foci 2EnrichmentNPR21.47
475Umbilical herniaEnrichmentGLI31.47
476Keratosis palmoplantaris striataEnrichmentKRT11.47
477Polr3-related leukodystrophyEnrichmentGUCY2D1.47
478Annular epidermolytic ichthyosisEnrichmentKRT11.47
479Mpv17-related mitochondrial dna maintenance defectEnrichmentUCN1.47
480Autosomal dominant epidermolytic ichthyosisEnrichmentKRT11.47
481Obesity due to pro-opiomelanocortin deficiencyEnrichmentPOMC1.47
482Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.45
483Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.45
484Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.45
485Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.45
486Lung sarcomatoid carcinomaEnrichmentKRAS1.45
487Hereditary ataxiaEnrichmentPRKCG1.45
488CraniopharyngiomaEnrichmentBRAF1.45
489Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.45
490Pilocytic astrocytomaEnrichmentKRAS1.45
491Newborn respiratory distress syndromeEnrichmentBRAF1.45
492Epidermolytic nevusEnrichmentHRAS1.45
493Gingival fibromatosisEnrichmentSOS11.45
494Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.45
495Capillary malformations, congenitalEnrichmentGNA111.40
496Sotos syndromeEnrichmentSCN4A1.40
497Episodic ataxia, type 2EnrichmentCACNA1A1.40
498Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentSCN8A1.40
499Night blindness, congenital stationary, type 1cEnrichmentGNAT11.40
500Rubinstein-taybi syndrome 2EnrichmentEP3001.40
501AmblyopiaEnrichmentCACNA1F1.40
502Congenital short qt syndromeEnrichmentCACNA2D11.40
503Sensory peripheral neuropathyEnrichmentSCN11A1.40
504Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D4, GUCY2D1.38
505Hirschsprung disease 1EnrichmentGLI3, SMO1.37
506HemimegalencephalyEnrichmentAKT31.36
507Diffuse cutaneous systemic sclerosisEnrichmentCAV11.36
508Polydactyly, preaxial iiEnrichmentPTCH11.35
509Mitochondrial dna depletion syndrome 6EnrichmentUCN1.35
510Autoimmune lymphoproliferative syndromeEnrichmentFASLG1.35
511Short stature with nonspecific skeletal abnormalities 1EnrichmentNPR21.35
512Congenital generalized lipodystrophyEnrichmentFOS1.35
513Charcot-marie-tooth disease, axonal, type 2eeEnrichmentUCN1.35
514Idiopathic achalasiaEnrichmentNOS11.35
515Epidermolytic hyperkeratosisEnrichmentKRT11.35
516Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.33
517Pain disorderEnrichmentSCN4A1.33
518HypertrichosisEnrichmentCREBBP1.33
519Childhood absence epilepsyEnrichmentCACNA1H1.33
520Leukemia, acute myeloidEnrichmentKRAS, NRAS1.31
521Myopathy, centronuclear, 1EnrichmentDNM21.28
522Cowden syndrome 1EnrichmentEGFR1.28
523Wilms tumor 5EnrichmentBRAF1.28
524Limited sclerodermaEnrichmentCAV11.28
525Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentSCN3A1.26
526BrachydactylyEnrichmentGNAS1.26
527Alzheimer disease 2EnrichmentNOS31.26
528Epidermolytic hyperkeratosis 1EnrichmentKRT11.26
529Choroidal dystrophy, central areolar, 1EnrichmentGUCY2D1.26
5303-methylglutaconic aciduria, type iiiEnrichmentGUCY2D1.26
531Pre-eclampsiaEnrichmentNOS31.26
532Histiocytoid hemangiomaEnrichmentFOS1.26
533Hereditary breast carcinomaEnrichmentAKT1, KRAS1.23
534MyelofibrosisEnrichmentSRC1.22
535Squamous cell carcinoma, head and neckEnrichmentEGFR1.22
536MegacolonEnrichmentAKT31.22
537Overgrowth syndromeEnrichmentPIK3R11.22
538Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.20
539Isolated growth hormone deficiency, type iaEnrichmentGH11.20
540HypothyroidismEnrichmentGNB11.20
541Choreatic diseaseEnrichmentGNAO11.20
542Difference of sex developmentEnrichmentCACNA1A1.20
543Li-fraumeni syndromeEnrichmentCDKN2A1.18
544Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.18
545Moyamoya disease 1EnrichmentGUCY1A11.18
546Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.18
547Lymphoma, non-hodgkin, familialEnrichmentBRAF1.16
548Bronchiectasis with or without elevated sweat chloride 1EnrichmentSCNN1B1.15
549Nephrotic syndrome, type 1EnrichmentPLCE11.15
550Charge syndromeEnrichmentEP3001.15
551Myoclonic-atonic epilepsyEnrichmentSCN1A1.15
552Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.15
553Bilateral perisylvian polymicrogyriaEnrichmentSCN3A1.15
554Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentSCN5A1.15
555Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCRH1.11
556Congenital hydrocephalusEnrichmentPTCH11.11
557B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A1.11
558Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.11
559Inflammatory bowel disease 1EnrichmentPRKCQ1.11
560Ventricular septal defectEnrichmentBRAF1.11
561Cowden syndromeEnrichmentAKT11.11
562PolymicrogyriaEnrichmentSCN3A1.11
563AchromatopsiaEnrichmentGNAT21.11
564Migraine with or without aura 1EnrichmentCACNA1A1.07
565Epilepsy, myoclonic juvenileEnrichmentCACNB41.07
566Epilepsy, idiopathic generalizedEnrichmentCACNA1H1.07
567Myelodysplastic syndromeEnrichmentGNB11.07
568Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.07
569Leber congenital amaurosis 1EnrichmentGUCY2D1.06
570Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.06
571Combined pituitary hormone deficiencyEnrichmentGLI21.06
572Optic atrophy plus syndromeEnrichmentCACNA1F, GUCY2D1.05
573Postsynaptic congenital myasthenic syndromesEnrichmentSCN4A1.03
574Heritable pulmonary arterial hypertensionEnrichmentCAV11.03
575Specific learning disabilityEnrichmentMAPK11.03
576Congenital central hypoventilation syndromeEnrichmentBDNF1.01
577Acute promyelocytic leukemiaEnrichmentPRKAR1A1.00
578MeningiomaEnrichmentAKT10.99
579Multiple sclerosisEnrichmentITPR10.97
580Heart diseaseEnrichmentCREBBP0.97
581Aortic valve disease 1EnrichmentSOS10.96
582Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.96
583Protein-deficiency anemiaEnrichmentNRAS0.96
584Corpus callosum, agenesis ofEnrichmentCREBBP0.94
585MyopiaEnrichmentCACNA1F0.94
586Anterior segment dysgenesisEnrichmentITPR10.94
587Isolated corpus callosum agenesisEnrichmentCREBBP0.94
588Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.94
589OsteoporosisEnrichmentSRC0.93
59046,xy partial gonadal dysgenesisEnrichmentSOS10.93
59146,xy complete gonadal dysgenesisEnrichmentMAP3K10.93
592Wolff-parkinson-white syndromeEnrichmentSCN5A0.92
593Arrhythmogenic right ventricular cardiomyopathyEnrichmentSCN5A0.92
594Wilms tumor 1EnrichmentBRAF0.90
595Lynch syndromeEnrichmentKRAS0.90
596Autism spectrum disorderEnrichmentGNB1, MAP2K1, MEF2C0.90
597Cleft palate, isolatedEnrichmentGNB10.89
598Cardiomyopathy, dilated, 1eEnrichmentSCN5A0.89
599RhabdomyosarcomaEnrichmentHRAS0.87
600GliosarcomaEnrichmentEGFR0.87
601Diaphragmatic hernia, congenitalEnrichmentGLI30.86
602Dandy-walker syndromeEnrichmentBRAF0.85
603Giant cell glioblastomaEnrichmentEGFR0.85
604Heart, malformation ofEnrichmentMAPK10.83
605Focal segmental glomerulosclerosisEnrichmentPLCE10.83
606Dilated cardiomyopathyEnrichmentBRAF, RAF10.80
607Attention deficit-hyperactivity disorderEnrichmentGNB50.79
608MalariaEnrichmentSCN8A0.77
609ScoliosisEnrichmentCREBBP0.75
610Alzheimer disease, familial, 1EnrichmentNOS30.75
611Auditory neuropathyEnrichmentCACNA1A0.72
612Inherited cancer-predisposing syndromeEnrichmentCDKN2A, PRKAR1A, PTCH10.72
613Pancreatic cancerEnrichmentKRAS0.70
614Macs syndromeEnrichmentPTCH10.69
615Hereditary retinal dystrophyEnrichmentCACNA1F, CACNA2D4, GNAT1, GNAT20.69
616Fundus dystrophyEnrichmentCACNA1F, CACNA2D4, GNAT1, GNAT20.69
617Hydrops fetalis, nonimmuneEnrichmentHRAS0.68
618Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D4, GNAT1, GUCY2D0.66
619Myocardial infarctionEnrichmentGUCY1A10.65
620MicrophthalmiaEnrichmentPTCH10.65
621Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A0.64
622Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.62
623Left ventricular noncompactionEnrichmentSCN5A0.61
624Familial hypertrophic cardiomyopathyEnrichmentRAF10.59
625Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF60.56
626MyopathyEnrichmentSCN4A0.56
627Nephrotic syndromeEnrichmentPLCE10.53
628Charcot-marie-tooth diseaseEnrichmentDNM20.51
629Type 2 diabetes mellitusEnrichmentAKT20.50
630Gastric cancerEnrichmentKRAS0.49
631Familial isolated dilated cardiomyopathyEnrichmentSCN5A0.46
632ThrombocytopeniaEnrichmentSRC0.46
633Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.41
634Primary ciliary dyskinesiaEnrichmentPRKAR1B0.34
635Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGLI20.33
636Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.31
637Primary ovarian insufficiencyEnrichmentNOS30.31
638Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.29
639Leber plus diseaseEnrichmentGUCY2D0.18

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