Sweet Taste Signaling

Pathway network for the Sweet Taste Signaling SuperPath

Sources:
  • QIAGEN

Pathways in the Sweet Taste Signaling SuperPath

#NameSourceGenes
1Sweet Taste SignalingQIAGEN
2Sperm MotilityQIAGEN
(see all 236) (see less)
3Cellular Effects of SildenafilQIAGEN
4Melatonin SignalingQIAGEN
5Bitter Taste SignalingQIAGEN

Gene overlap in member pathways for Sweet Taste Signaling SuperPath

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

Disorders associated with Sweet Taste Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, MYH14, MYH9, MYO1A, MYO1C, MYO6, MYO7A, PDE1C6.18
2Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D4, CNGB3, GUCY2D, KCNV25.99
3Childhood absence epilepsyEnrichmentCACNA1H, GABRA1, GABRB3, GABRG25.88
4Cardiofaciocutaneous syndrome 1EnrichmentBRAF, MAP2K1, MAP2K25.37
5Cardiofaciocutaneous syndromeEnrichmentBRAF, MAP2K1, MAP2K25.37
6Non-syndromic genetic deafnessEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A4.97
7Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG2, MYH11, MYLK4.94
8Noonan syndrome and noonan-related syndromeEnrichmentBRAF, MAP2K1, MAP2K2, RAF14.87
9Nonsyndromic hearing lossEnrichmentACTG1, MYH14, MYO15A, MYO3A, MYO6, MYO7A4.57
10Visceral myopathy 1EnrichmentACTG2, MYH11, MYLK4.55
11Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.45
12Cone-rod dystrophy 2EnrichmentCACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB3, GUCY2D, KCNV24.29
13Long qt syndrome 1EnrichmentCACNA1C, CALM1, CALM2, CALM3, ITPR34.22
14Long qt syndromeEnrichmentCACNA1C, CACNA1S, CALM1, CALM2, MYH64.15
15Noonan syndrome 1EnrichmentBRAF, MAP2K1, MAP2K2, RAF14.08
16Primary hyperaldosteronismEnrichmentBRAF, CACNA1H, GNAS4.06
17Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.98
18RasopathyEnrichmentBRAF, MAP2K1, MAP2K2, RAF13.87
19Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, CAMK2A, CAMK2B, GNB13.80
20Achromatopsia 3EnrichmentCNGA3, CNGB33.69
21AcrodysostosisEnrichmentPDE4D, PRKAR1A3.69
22Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.69
23Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C3.64
24Anastomosing haemangiomaEnrichmentGNA11, GNA143.64
25Langerhans cell histiocytosisEnrichmentBRAF, MAP2K13.50
26Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, MYH6, MYH7, MYH7B3.46
27Cone dystrophyEnrichmentCACNA2D4, CNGA3, GUCY2D, KCNV23.46
28Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB43.20
29Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.20
30Epilepsy, idiopathic generalizedEnrichmentCACNA1H, GABRA1, GABRD3.11
31Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D4, GNB32.99
32Melanoma, uvealEnrichmentGNA11, PLCB42.95
33Congenital myopathy 4a, autosomal dominantEnrichmentACTA1, MYH7, MYL22.94
34Carney complex variantEnrichmentMYH8, PRKAR1A2.92
35Familial sick sinus syndromeEnrichmentGNB2, MYH62.92
36Developmental and epileptic encephalopathy 14EnrichmentKCNT1, PLCB12.88
37Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB22.83
38Eye diseaseEnrichmentCACNA1F, CACNA2D4, CNGA3, CNGB32.82
39Generalized epilepsy with febrile seizures plusEnrichmentGABRD, GABRG2, HCN12.78
40Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, MYH9, MYO15A, MYO3A, MYO6, MYO7A2.76
41Color blindnessEnrichmentCNGA3, HCN12.75
42Congenital myopathy 3 with rigid spineEnrichmentACTA1, MYH72.70
43Pilomyxoid astrocytomaEnrichmentBRAF, RAF12.67
44Congenital myopathyEnrichmentACTA1, CACNA1S, MYH72.63
45Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.58
46Undetermined early-onset epileptic encephalopathyEnrichmentGABRA2, GABRA5, GABRB2, GABRG2, HCN12.55
47Melanocytic nevus syndrome, congenitalEnrichmentBRAF, RAF12.55
48Lennox-gastaut syndromeEnrichmentCACNA1A, MAPK102.55
49Moyamoya disease 1EnrichmentACTA2, GUCY1A12.53
50Intestinal pseudo-obstructionEnrichmentACTG2, MYH112.53
51Hypertrophic cardiomyopathyEnrichmentMYH7, MYH7B, MYL2, MYL32.49
52Optic atrophy plus syndromeEnrichmentCACNA1F, CNGA3, CNGB3, GUCY2D2.45
53Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, MYH11, MYLK, PRKG12.45
54Angelman syndromeEnrichmentCDKL5, GABRG32.36
55Testicular germ cell tumorEnrichmentSTK10, STK112.36
56Ear malformationEnrichmentMYO15A, MYO6, MYO7A2.33
57Cerebral palsyEnrichmentCACNA1A, CACNA1C, GNB12.32
58Rare genetic deafnessEnrichmentACTG1, MYH9, MYO15A, MYO6, MYO7A2.26
59Lung non-small cell carcinomaEnrichmentBRAF, MAP2K12.26
60DystoniaEnrichmentCAMK2B, GNAL, GNB12.26
61Thiourea tastingEnrichmentTAS2R382.21
62Hypertension and brachydactyly syndromeEnrichmentPDE3A2.21
63Cone dystrophy with supernormal rod responsesEnrichmentKCNV22.21
64Scalp-ear-nipple syndromeEnrichmentKCTD12.21
65Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.21
66Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.21
67Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.21
68Spermatogenic failure 79EnrichmentKCNU12.21
69Auriculocondylar syndrome 2aEnrichmentPLCB42.21
70Intellectual developmental disorder with paroxysmal dyskinesia or seizuresEnrichmentPDE2A2.21
71Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.21
72Spinocerebellar ataxia 14EnrichmentPRKCG2.21
73Pulmonary hypertension, primary, 4EnrichmentKCNK32.21
74Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.21
75Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.21
76Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.21
77Deafness, autosomal dominant 74EnrichmentPDE1C2.21
78Sick sinus syndrome 4EnrichmentGNB22.21
79Developmental and epileptic encephalopathy 57EnrichmentKCNT22.21
80Beta-glucopyranoside tastingEnrichmentTAS2R162.21
81Auriculocondylar syndrome 2bEnrichmentPLCB42.21
82Progressive myoclonus epilepsy 3EnrichmentKCTD72.21
83Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.21
84Cone dystrophy with supernormal rod responseEnrichmentKCNV22.21
85Familial thoracic aortic aneurysm and dissectionEnrichmentMYH11, MYLK2.16
86Choreatic diseaseEnrichmentGNAO1, PDE2A2.10
87Nemaline myopathyEnrichmentACTA1, MYO18B2.07
88AchromatopsiaEnrichmentCNGA3, CNGB32.07
89Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.06
90Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.06
91Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.06
92Epilepsy, idiopathic generalized 9EnrichmentCACNB42.06
93Carney complex, type 1EnrichmentPRKAR1A2.06
94Brugada syndrome 4EnrichmentCACNB22.06
95Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD12.06
96Deafness, autosomal recessive 44EnrichmentADCY12.06
97Episodic ataxia, type 5EnrichmentCACNB42.06
98Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I2.06
99Congenital myopathy 18EnrichmentCACNA1S2.06
100Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.06
101Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F2.06
102Retinal cone dystrophy 4EnrichmentCACNA2D42.06
103Cardioacrofacial dysplasia 2EnrichmentPRKACB2.06
104Myxoma, intracardiacEnrichmentPRKAR1A2.06
105Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.06
106Brugada syndrome 3EnrichmentCACNA1C2.06
107Epilepsy, childhood absence 6EnrichmentCACNA1H2.06
108Malignant hyperthermia 5EnrichmentCACNA1S2.06
109Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG22.06
110Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.06
111Dystonia 25EnrichmentGNAL2.06
112Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.06
113Long qt syndrome 16EnrichmentCALM32.06
114Hypocalcemia, autosomal dominant 2EnrichmentGNA112.06
115Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.06
116Spinocerebellar ataxia 42EnrichmentCACNA1G2.06
117Developmental and epileptic encephalopathy 110EnrichmentCACNA2D12.06
118Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.06
119Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G2.06
120Cardioacrofacial dysplasia 1EnrichmentPRKACA2.06
121Developmental and epileptic encephalopathy 69EnrichmentCACNA1E2.06
122Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.06
123Long qt syndrome 15EnrichmentCALM22.06
124Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.06
125Conn's syndromeEnrichmentCACNA1H2.06
126Sporadic hemiplegic migraineEnrichmentCACNA1A2.06
127Atypical timothy syndromeEnrichmentCACNA1C2.06
128Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.06
129Timothy syndrome type 2EnrichmentCACNA1C2.06
130Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.06
131Phakomatosis cesiomarmorataEnrichmentGNA112.06
132Kaposiform hemangioendotheliomaEnrichmentGNA142.06
133Timothy syndrome type 1EnrichmentCACNA1C2.06
134Cacna1c-related disordersEnrichmentCACNA1C2.06
135Benign paroxysmal torticollis of infancyEnrichmentCACNA1A2.06
136Pallister-killian syndromeEnrichmentARAF1.99
137Noonan syndrome 5EnrichmentRAF11.99
138Pseudohypoparathyroidism, type icEnrichmentGNAS1.99
139Melorheostosis, isolatedEnrichmentMAP2K11.99
140Osseous heteroplasia, progressiveEnrichmentGNAS1.99
141Noonan syndrome 7EnrichmentBRAF1.99
142Leopard syndrome 3EnrichmentBRAF1.99
143Cardiomyopathy, dilated, 1nnEnrichmentRAF11.99
144Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.99
145Ventricular tachycardia, familialEnrichmentGNAI21.99
146Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.99
147Noonan syndrome 13EnrichmentMAPK11.99
148Pituitary adenoma 3, multiple typesEnrichmentGNAS1.99
149Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.99
150Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.99
151Epilepsy, idiopathic generalized 15EnrichmentRORB1.99
152Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.99
153Immunodeficiency 42EnrichmentRORC1.99
154LymphangiomaEnrichmentBRAF1.99
155Phace associationEnrichmentBRAF1.99
156MelorheostosisEnrichmentMAP2K11.99
157Leopard syndrome 2EnrichmentRAF11.99
158Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.99
159Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.99
160Disorders of gnas inactivationEnrichmentGNAS1.99
161Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.99
162TrigonitisEnrichmentRAF11.99
163Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.99
164Syringocystadenoma papilliferumEnrichmentBRAF1.99
165GangliogliomaEnrichmentBRAF1.99
166Nongerminomatous germ cell tumorEnrichmentBRAF1.99
167Monostotic fibrous dysplasiaEnrichmentGNAS1.99
168Phace syndromeEnrichmentBRAF1.99
169Classic hairy cell leukemiaEnrichmentBRAF1.99
170Mazabraud syndromeEnrichmentGNAS1.99
171Familial hypertrophic cardiomyopathyEnrichmentMYH7, MYL2, MYL31.94
172Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B1.91
173Birk-barel syndromeEnrichmentKCNK91.91
174Night blindness, congenital stationary, type 1hEnrichmentGNB31.91
175Epilepsy, nocturnal frontal lobe, 5EnrichmentKCNT11.91
176Developmental and epileptic encephalopathy 15EnrichmentKCNT11.91
177Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeEnrichmentKCNK41.91
178Ocular melanomaEnrichmentPLCB41.91
179Epilepsy, progressive myoclonic, 3, with or without intracellular inclusionsEnrichmentKCTD71.91
180Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.91
181Malignant migrating partial seizures of infancyEnrichmentKCNT11.91
182Cerebral visual impairmentEnrichmentGNB11.91
183Dravet syndromeEnrichmentGABRA1, GABRG21.91
184Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.84
185Pyloric stenosis, infantile hypertrophic, 1EnrichmentNOS11.84
186Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1aEnrichmentMYH31.84
187Achromatopsia 2EnrichmentCNGA31.84
188Baraitser-winter syndrome 1EnrichmentACTB1.84
189Deafness, autosomal recessive 2EnrichmentMYO7A1.84
190Deafness, autosomal dominant 17EnrichmentMYH91.84
191Deafness, autosomal dominant 48EnrichmentMYO1A1.84
192Cardiomyopathy, familial hypertrophic, 8EnrichmentMYL31.84
193Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.84
194Deafness, autosomal dominant 22EnrichmentMYO61.84
195Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.84
196Myopathy, scapulohumeroperonealEnrichmentACTA11.84
197Cardiomyopathy, dilated, 1eeEnrichmentMYH61.84
198Sick sinus syndrome 3EnrichmentMYH61.84
199Griscelli syndrome, type 1EnrichmentMYO5A1.84
200Aortic aneurysm, familial thoracic 8EnrichmentPRKG11.84
201Elejalde neuroectodermal melanolysosomal syndromeEnrichmentMYO5A1.84
202Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.84
203Spondylometaphyseal dysplasia, pagnamenta typeEnrichmentPRKG21.84
204Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.84
205Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.84
206Deafness, autosomal dominant 4aEnrichmentMYH141.84
207Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.84
208Deafness, autosomal recessive 37EnrichmentMYO61.84
209Night blindness, congenital stationary, type1iEnrichmentGUCY2D1.84
210Diarrhea 15, congenitalEnrichmentMYO1A1.84
211Atrial fibrillation, familial, 18EnrichmentMYL41.84
212Deafness, autosomal dominant 11EnrichmentMYO7A1.84
213Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.84
214Deafness, autosomal recessive 30EnrichmentMYO3A1.84
215Becker nevus syndromeEnrichmentACTB1.84
216Celiac disease 4EnrichmentMYO9B1.84
217Dystonia-deafness syndrome 1EnrichmentACTB1.84
218Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.84
219Cardiomyopathy, familial hypertrophic, 14EnrichmentMYH61.84
220Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.84
221Moyamoya disease 6 with or without achalasiaEnrichmentGUCY1A11.84
222Peripheral neuropathy, myopathy, hoarseness, and hearing lossEnrichmentMYH141.84
223Acrodysostosis 2 with or without hormone resistanceEnrichmentPDE4D1.84
224Autosomal dominant familial visceral neuropathyEnrichmentACTG21.84
225Focal segmental glomerulosclerosis 6EnrichmentMYO1E1.84
226Retinitis pigmentosa 45EnrichmentCNGB11.84
227Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB1.84
228Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.84
229Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.84
230Deafness, autosomal dominant 90EnrichmentMYO3A1.84
231Myasthenic syndrome, congenital, 24, presynapticEnrichmentMYO9A1.84
232Congenital myopathy 14EnrichmentMYL11.84
233Moyamoya disease with early-onset achalasiaEnrichmentGUCY1A11.84
234Baraitser-winter syndromeEnrichmentACTB1.84
235Usher syndrome type 1bEnrichmentMYO7A1.84
236Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.84
237Klippel-feil syndromeEnrichmentMYO18B1.84
238Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH91.84
239Idiopathic hypercalciuriaEnrichmentADCY101.84
240Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.84
241Zebra body myopathyEnrichmentACTA11.84
242Congenital smooth muscle hamartomaEnrichmentACTB1.84
243Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.84
244Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.84
245Actin-accumulation myopathyEnrichmentACTA11.84
246Myopathic intestinal pseudoobstructionEnrichmentACTG21.84
247Actg2 visceral myopathyEnrichmentACTG21.84
248Epilepsy, myoclonic juvenileEnrichmentGABRA1, GABRD1.83
249Aortic aneurysm, familial thoracic 1EnrichmentMYH11, MYLK1.78
250Sick sinus syndrome 2EnrichmentHCN41.76
251Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.76
252Congenital disorder of glycosylation, type iidEnrichmentB4GALT11.76
253Febrile seizures, familial, 8EnrichmentGABRG21.76
254Epilepsy, idiopathic generalized 13EnrichmentGABRA11.76
255Ehlers-danlos syndrome, spondylodysplastic type, 1EnrichmentB4GALT71.76
256Cardiac valvular dysplasia 1EnrichmentPLD11.76
257Microcephaly and chorioretinopathy, autosomal recessive, 2EnrichmentPLK41.76
258Fleck retina, familial benignEnrichmentPLA2G51.76
259Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.76
260Epilepsy, idiopathic generalized 17EnrichmentHCN21.76
261Epilepsy, idiopathic generalized 18EnrichmentHCN41.76
262Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.76
263Developmental and epileptic encephalopathy 74EnrichmentGABRG21.76
264Developmental and epileptic encephalopathy 79EnrichmentGABRA51.76
265Immunodeficiency 110 with lymphoproliferationEnrichmentSTK41.76
266Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic featuresEnrichmentGABRA31.76
267Intellectual developmental disorder, x-linked 114EnrichmentSRPK31.76
268Epilepsy, idiopathic generalized 10EnrichmentGABRD1.76
269Familial febrile seizures 2EnrichmentHCN21.76
270Autism 16EnrichmentSLC9A91.76
271Developmental and epileptic encephalopathy 17EnrichmentGNAO11.76
272Developmental and epileptic encephalopathy 19EnrichmentGABRA11.76
273Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.76
274Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.76
275Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.76
276Spermatogenic failure 93EnrichmentSTK331.76
277Nasopharyngeal carcinoma 3EnrichmentMST1R1.76
278Developmental and epileptic encephalopathy 24EnrichmentHCN11.76
279Microcephaly and chorioretinopathy 2EnrichmentPLK41.76
280Epilepsy, childhood absence 5EnrichmentGABRB31.76
281Cdkl5 deficiency disorderEnrichmentCDKL51.76
282Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G71.76
283Developmental and epileptic encephalopathy 92EnrichmentGABRB21.76
284Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.76
285Developmental and epileptic encephalopathy 43EnrichmentGABRB31.76
286Developmental and epileptic encephalopathy 45EnrichmentGABRB11.76
287Combined low ldl and fibrinogenEnrichmentB4GALT11.76
288Generalized epilepsy with febrile seizures plus, type 10EnrichmentHCN11.76
289Ciliary dyskinesia, primary, 46EnrichmentSTK361.76
290Spondylodysplastic ehlers-danlos syndromeEnrichmentB4GALT71.76
291Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.76
292Gnao1-related disorderEnrichmentGNAO11.76
293Intestinal polyposis syndromeEnrichmentSTK111.76
294Familial benign flecked retinaEnrichmentPLA2G51.76
295Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.76
296Cutis marmorata telangiectatica congenitaEnrichmentGNA111.76
297Timothy syndromeEnrichmentCACNA1C1.76
298Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.76
299Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.76
300Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.76
301Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.76
302Angioma, tuftedEnrichmentGNA141.76
303Spermatogenic failure 17EnrichmentPLCZ11.76
304Long qt syndrome 14EnrichmentCALM11.76
305Long qt syndrome 8EnrichmentCACNA1C1.76
306Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.76
307Usher syndrome, type ivEnrichmentPRKAR1A1.76
308Autosomal dominant hypocalcemiaEnrichmentGNA111.76
309Body mass index quantitative trait locus 19EnrichmentADCY31.76
310Fibrolamellar carcinomaEnrichmentPRKACA1.76
311Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.76
312Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.76
313Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.76
314Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.76
315Progressive bulbar palsyEnrichmentCACNA1A1.76
316Phakomatosis cesioflammeaEnrichmentGNA111.76
317Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B1.73
318Epilepsy, nocturnal frontal lobe, 1EnrichmentKCNT11.73
319Ciliary dyskinesia, primary, 28EnrichmentKCNT11.73
320Gingival overgrowthEnrichmentKCNK41.73
321MyopiaEnrichmentCACNA1F, MYH111.72
322MyopathyEnrichmentACTA1, MYH2, MYH71.71
323Pseudohypoparathyroidism, type iaEnrichmentGNAS1.69
324Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.69
325Pulmonic stenosisEnrichmentBRAF1.69
326PseudopseudohypoparathyroidismEnrichmentGNAS1.69
327PseudohypoparathyroidismEnrichmentGNAS1.69
328HypopituitarismEnrichmentGNAI21.69
329Intellectual developmental disorder with or without epilepsy or cerebellar ataxiaEnrichmentRORA1.69
330Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.69
331Tafro syndromeEnrichmentMAP2K21.69
332Chromosome 1p36 deletion syndromeEnrichmentGABRD, PRKCZ1.68
333Distal arthrogryposisEnrichmentACTA1, MYH3, MYL111.66
334StrabismusEnrichmentCACNA1A, GNB11.63
335Hereditary retinal dystrophyEnrichmentCACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB1, CNGB3, GUCY2D, KCNV2, MYO7A1.62
336Fundus dystrophyEnrichmentCACNA1F, CACNA2D4, CNGA1, CNGA3, CNGB1, CNGB3, GUCY2D, KCNV2, MYO7A1.62
337Hypertension, essentialEnrichmentGNB3, NOS31.62
338Cardiomyopathy, dilated, 1eEnrichmentMYH7, MYL21.62
339Congenital nervous system abnormalityEnrichmentCACNA1A, CAMK2B, GNB5, KCNV21.62
340Nervous system diseaseEnrichmentCACNA1A, CAMK2B, GNB5, KCNV21.62
341Developmental and epileptic encephalopathyEnrichmentCDKL5, GNAO1, HCN11.61
342Developmental and epileptic encephalopathy 12EnrichmentPLCB11.61
343Hereditary ataxiaEnrichmentPRKCG1.61
344Van der woude syndrome 1EnrichmentCACNA1E1.58
345Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA111.58
346Nephrotic syndrome, type 3EnrichmentPLCE11.58
347Thyrotoxic periodic paralysisEnrichmentCACNA1S1.58
348Hereditary episodic ataxiaEnrichmentCACNA1A1.58
349Benign epilepsy with centrotemporal spikesEnrichmentKCNT1, PLCB11.58
350Neuromuscular diseaseEnrichmentACTA1, MYH71.57
351Dilated cardiomyopathyEnrichmentACTA1, MYH6, MYH7, MYL21.56
352Spinocerebellar ataxia 29EnrichmentITPR11.55
353Aortic aneurysm, familial thoracic 4EnrichmentMYH111.55
354Hypercalciuria, absorptive, 2EnrichmentADCY101.55
355Arthrogryposis, distal, type 2aEnrichmentMYH31.55
356Ebstein anomalyEnrichmentMYH71.55
357Cataract 35EnrichmentMYH91.55
358Deafness, autosomal dominant 30EnrichmentMYO3A1.55
359Aortic aneurysm, familial thoracic 2EnrichmentACTA21.55
360Griscelli syndrome, type 3EnrichmentMYO5A1.55
361Arthrogryposis, distal, type 7EnrichmentMYH81.55
362Deafness, autosomal dominant 20EnrichmentACTG11.55
363Smooth muscle dysfunction syndromeEnrichmentACTA21.55
364Aortic aneurysm, familial thoracic 6EnrichmentACTA21.55
365Baraitser-winter syndrome 2EnrichmentACTG11.55
366Lethal congenital contracture syndrome 8EnrichmentADCY61.55
367Duodenal atresiaEnrichmentGUCY2C1.55
368Chromosome 5q12 deletion syndromeEnrichmentPDE4D1.55
369Epiphyseal chondrodysplasia, miura typeEnrichmentNPR21.55
370Moyamoya disease 5EnrichmentACTA21.55
371Arthrogryposis, distal, type 2b3EnrichmentMYH31.55
372Megacystis-microcolon-intestinal hypoperistalsis syndrome 2EnrichmentMYH111.55
373Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.55
374Retinitis pigmentosa 49EnrichmentCNGA11.55
375Atrial septal defect 3EnrichmentMYH61.55
376Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.55
377Acromesomelic dysplasia 4EnrichmentPRKG21.55
378Cardiomyopathy, familial hypertrophic, 10EnrichmentMYL21.55
379Acromesomelic dysplasia 1EnrichmentNPR21.55
380Diarrhea 6EnrichmentGUCY2C1.55
381Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndromeEnrichmentMYH21.55
382Pseudosarcomatous fibromatosisEnrichmentMYH91.55
383Visceral myopathy 2EnrichmentMYH111.55
384Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyEnrichmentMYL21.55
385Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphismEnrichmentMYO18B1.55
386Arthrogryposis, distal, type 1cEnrichmentMYL111.55
387Megacystis-microcolon-intestinal hypoperistalsis syndrome 4EnrichmentMYL91.55
388Congenital diarrhea 6EnrichmentGUCY2C1.55
389Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiencyEnrichmentGUCY2C1.55
390Klippel-feil anomaly-myopathy-facial dysmorphism syndromeEnrichmentMYO18B1.55
391Childhood-onset autosomal recessive myopathy with external ophthalmoplegiaEnrichmentMYH21.55
392Intestinal obstructionEnrichmentACTG21.55
393Carney complex - trismus - pseudocamptodactyly syndromeEnrichmentMYH81.55
394Centralopathic epilepsyEnrichmentKCNT1, PLCB11.54
395Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentPDE2A1.51
396Mccune-albright syndromeEnrichmentGNAS1.51
397Ataxia-telangiectasiaEnrichmentBRAF1.51
398Tethered spinal cord syndromeEnrichmentBRAF1.51
399Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.51
400Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentKCTD3, PLA2G61.51
401Sensorineural hearing lossEnrichmentMYO15A, MYO3A, MYO7A1.51
402EpilepsyEnrichmentGABRA1, GABRB3, KCNT11.49
403Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D4, CNGA1, CNGB1, CNGB3, GUCY2D, MYO7A1.48
404Peutz-jeghers syndromeEnrichmentSTK111.46
405Retinoschisis 1, x-linked, juvenileEnrichmentCDKL51.46
406Charcot-marie-tooth disease, demyelinating, type 4fEnrichmentPLD31.46
407Ehlers-danlos syndrome, spondylodysplastic type, 2EnrichmentB4GALT71.46
408Oocyte/zygote/embryo maturation arrest 3EnrichmentZP31.46
409Spinocerebellar ataxia 46EnrichmentPLD31.46
410Spermatogenic failure 7EnrichmentCATSPER11.46
411Developmental and epileptic encephalopathy 78EnrichmentGABRA21.46
412Charcot-marie-tooth disease type 4fEnrichmentPLD31.46
413RetinoschisisEnrichmentCDKL51.46
414Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.46
415BruxismEnrichmentCDKL51.46
416Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS, MYH91.46
417Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.46
418Spinocerebellar ataxia 6EnrichmentCACNA1A1.46
419Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.46
420Aland island eye diseaseEnrichmentCACNA1F1.46
421Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.46
422Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.46
423Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.46
424Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.46
425Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.46
426Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.46
427Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.46
428Malignant hyperthermiaEnrichmentCACNA1S1.46
429Episodic ataxiaEnrichmentCACNA1A1.46
430Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.46
431Centronuclear myopathyEnrichmentACTA1, CACNA1S1.45
432Alcohol dependenceEnrichmentTAS2R161.44
433Early infantile developmental and epileptic encephalopathyEnrichmentCDKL5, GNAO11.42
434Spastic ataxiaEnrichmentCACNA1G, CACNB4, ITPR11.40
435Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.39
436Pseudohypoparathyroidism, type ibEnrichmentGNAS1.39
437Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.39
438Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.39
439Achromatopsia 4EnrichmentGNAI31.39
440Congenital generalized lipodystrophyEnrichmentFOS1.39
441CraniopharyngiomaEnrichmentBRAF1.39
442Newborn respiratory distress syndromeEnrichmentBRAF1.39
443West syndromeEnrichmentCDKL5, GNAO1, PLCB11.39
444Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.37
445Klippel-feil syndrome 1, autosomal dominantEnrichmentMYO18B1.37
446Gillespie syndromeEnrichmentITPR11.37
447Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentGUCY2C1.37
448Deafness, autosomal recessive 3EnrichmentMYO15A1.37
449Cardiomyopathy, dilated, 1c, with or without left ventricular noncompactionEnrichmentMYH7B1.37
450Spondylocarpotarsal synostosis syndromeEnrichmentMYH31.37
451Aortic aneurysm, familial thoracic 7EnrichmentMYLK1.37
452Epilepsy, familial focal, with variable foci 2EnrichmentNPR21.37
453Microcephaly, progressive, with seizures and cerebral and cerebellar atrophyEnrichmentMYH151.37
454Polr3-related leukodystrophyEnrichmentGUCY2D1.37
455Qualitative or quantitative defects of beta-myosin heavy chainEnrichmentMYH71.37
456Idiopathic camptocormiaEnrichmentMYH71.37
457Congenital diarrheaEnrichmentMYO1A1.37
458Tricuspid valve insufficiencyEnrichmentMYH111.37
459Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.37
460Breast cancerEnrichmentCACNA2D1, GNG3, JUN1.37
461Autosomal dominant sleep-related hypermotor epilepsyEnrichmentKCNT11.37
462Paroxysmal dystoniaEnrichmentPDE2A1.37
463Capillary malformations, congenitalEnrichmentGNA111.37
464Episodic ataxia, type 2EnrichmentCACNA1A1.37
465Heart conduction diseaseEnrichmentCACNA1C1.37
466AmblyopiaEnrichmentCACNA1F1.37
467Cardiac arrestEnrichmentCACNA2D11.37
468Congenital short qt syndromeEnrichmentCACNA2D11.37
469HypothyroidismEnrichmentGNB11.31
470Histiocytoid hemangiomaEnrichmentFOS1.30
471Succinic semialdehyde dehydrogenase deficiencyEnrichmentGPLD11.29
472Late-onset retinal degenerationEnrichmentPLA2G51.29
473Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defectsEnrichmentB4GALT71.29
474Larsen-like syndrome b3gat3 typeEnrichmentB4GALT71.29
475Testicular germ cell cancerEnrichmentSTK111.29
476Brugada syndrome 8EnrichmentHCN41.29
477Microcephaly 17, primary, autosomal recessiveEnrichmentCIT1.29
478Testicular cancerEnrichmentSTK111.29
479Apc-associated polyposis conditionsEnrichmentSTK111.29
480Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.29
481Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.29
482Adrenocortical carcinomaEnrichmentPRKAR1A1.29
483Auditory neuropathyEnrichmentCACNA1A, MYO7A1.28
484Inflammatory bowel disease 1EnrichmentPRKCQ1.26
485Myopathy, distal, 1EnrichmentMYH71.25
486Chorea, benign hereditaryEnrichmentADCY51.25
487Klippel-feil syndrome 2, autosomal recessiveEnrichmentMYO18B1.25
488Nemaline myopathy 2EnrichmentACTA11.25
489Congenital myopathy 7b, myosin storage, autosomal recessiveEnrichmentMYH71.25
490Autoimmune lymphoproliferative syndromeEnrichmentACTA21.25
491Congenital myopathy 7a, myosin storage, autosomal dominantEnrichmentMYH71.25
492Congenital myopathy 6 with ophthalmoplegiaEnrichmentMYH21.25
493Spinocerebellar ataxia 15EnrichmentITPR11.25
494Aminoacylase 1 deficiencyEnrichmentACTB1.25
495Meconium ileusEnrichmentGUCY2C1.25
496Short stature with nonspecific skeletal abnormalities 1EnrichmentNPR21.25
497Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentMYH31.25
498Hyaline body myopathyEnrichmentMYH71.25
499Idiopathic achalasiaEnrichmentNOS11.25
500Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentMYH111.25
501Mitral valve insufficiencyEnrichmentMYH111.25
502Intermediate nemaline myopathyEnrichmentACTA11.25
503Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.25
504Brugada syndrome 1EnrichmentCACNA2D11.22
505Stroke, ischemicEnrichmentPRKCH1.22
506Progressive myoclonus epilepsyEnrichmentKCTD71.22
507Epilepsy, childhood absence 1EnrichmentRORB1.22
508Wilms tumor 5EnrichmentBRAF1.22
509Deafness, autosomal recessiveEnrichmentMYH9, MYO15A, MYO7A1.21
510Autosomal recessive nonsyndromic deafnessEnrichmentMYH9, MYO15A, MYO7A1.20
511Leukemia, acute lymphoblasticEnrichmentGNB11.18
512Myelodysplastic syndromeEnrichmentGNB11.18
513Heritable pulmonary arterial hypertensionEnrichmentKCNK31.18
514Nicolaides-baraitser syndromeEnrichmentCDKL51.17
515Deafness-infertility syndromeEnrichmentCATSPER21.17
516Developmental and epileptic encephalopathy 4EnrichmentCDKL51.17
517Oocyte/zygote/embryo maturation arrest 1EnrichmentZP31.17
518Autosomal dominant nocturnal frontal lobe epilepsyEnrichmentGABRG21.17
519Smarca2-related nicolaides-baraitser syndromeEnrichmentCDKL51.17
520Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentPLK41.17
521Alternating hemiplegia of childhoodEnrichmentCACNA1A1.17
522Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.17
523Difference of sex developmentEnrichmentCACNA1A1.17
524Stargardt disease 1EnrichmentCNGB3, KCNV21.17
525Alzheimer disease 2EnrichmentNOS31.16
526Choroidal dystrophy, central areolar, 1EnrichmentGUCY2D1.16
5273-methylglutaconic aciduria, type iiiEnrichmentGUCY2D1.16
528Arthrogryposis, distal, type 2b1EnrichmentMYH31.16
529Deafness, autosomal recessive 9EnrichmentMYO15A1.16
530Deafness, autosomal recessive 63EnrichmentMYH91.16
531Pre-eclampsiaEnrichmentNOS31.16
532Congenital ptosisEnrichmentMYH101.16
533Macular degenerationEnrichmentCNGA31.16
534Otof-related hearing lossEnrichmentMYO15A1.16
535Coloboma of choroid and retinaEnrichmentACTG11.16
536Severe congenital nemaline myopathyEnrichmentACTA11.16
537Developmental and epileptic encephalopathy 1EnrichmentCDKL5, GNAO11.16
538Type 2 diabetes mellitusEnrichmentMTNR1B, SLC2A41.16
539Thyroid cancer, nonmedullary, 2EnrichmentBRAF1.15
540Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.15
541Noonan syndrome 3EnrichmentRAF11.15
542BrachydactylyEnrichmentGNAS1.15
543Gallbladder cancerEnrichmentBRAF1.15
544Follicular thyroid carcinomaEnrichmentBRAF1.15
545Nephrotic syndrome, type 1EnrichmentPLCE11.12
546Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.12
547Pulmonary hypertension, primary, 1EnrichmentKCNK31.11
548Pulmonary disease, chronic obstructiveEnrichmentPDE3B1.11
549Spastic paraplegia 4, autosomal dominantEnrichmentGNAS1.10
550Lymphoma, non-hodgkin, familialEnrichmentBRAF1.10
551Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO61.08
552Hemangioma, capillary infantileEnrichmentMYH91.08
553Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.08
554Inherited arrhythmogenic cardiomyopathyEnrichmentMYH71.08
555Typical nemaline myopathyEnrichmentACTA11.08
556Myoclonic epilepsy of unverricht and lundborgEnrichmentKCTD71.08
557Variegate porphyriaEnrichmentB4GALT31.08
558Familial adenomatous polyposis 1EnrichmentSTK111.08
559Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK111.08
560Genetic steroid-resistant nephrotic syndromeEnrichmentMYO1E, PLCE11.07
561Neuronal ceroid lipofuscinosisEnrichmentKCTD71.05
562Left ventricular noncompactionEnrichmentMYH7, MYH7B1.05
563Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.05
564Arteriovenous malformationEnrichmentMAP2K11.05
565Ventricular septal defectEnrichmentBRAF1.05
566Migraine with or without aura 1EnrichmentCACNA1A1.03
567Meniere diseaseEnrichmentMYO7A1.02
568Childhood-onset nemaline myopathyEnrichmentACTA11.02
569Familial isolated restrictive cardiomyopathyEnrichmentMYL21.02
570Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.01
571MelanomaEnrichmentBRAF1.01
572Spondyloepiphyseal dysplasia with congenital joint dislocationsEnrichmentB4GALT71.00
573Cleft palate, isolatedEnrichmentGNB11.00
574Cardiac conduction defectEnrichmentCACNA1C1.00
575Specific learning disabilityEnrichmentMAPK10.97
576Acute promyelocytic leukemiaEnrichmentPRKAR1A0.97
577Arthrogryposis, distal, type 1aEnrichmentMYH30.96
578Leber congenital amaurosis 1EnrichmentGUCY2D0.96
579MyocarditisEnrichmentMYH70.96
580Hypoplastic left heart syndromeEnrichmentMYH60.96
581Rett syndromeEnrichmentCDKL50.94
582Focal epilepsyEnrichmentCDKL50.94
583Lip and oral cavity carcinomaEnrichmentBRAF0.93
584Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentMYH70.91
585Nephrotic syndromeEnrichmentMYO1E, PLCE10.90
586Attention deficit-hyperactivity disorderEnrichmentGNB50.89
587Spermatogenic failure 5EnrichmentAURKC0.88
588Rett syndrome, congenital variantEnrichmentCDKL50.88
589Cat eye syndromeEnrichmentACTG10.87
590MicrocephalyEnrichmentCAMK2B, GNB1, MAPK10.87
591Lung cancer susceptibility 3EnrichmentBRAF0.87
592Complex neurodevelopmental disorderEnrichmentCACNA1C, GNB2, RORA0.86
593Sudden infant death syndromeEnrichmentCALM20.86
594Wilms tumor 1EnrichmentBRAF0.84
595Usher syndrome type 2EnrichmentMYO7A0.83
596Presynaptic congenital myasthenic syndromesEnrichmentMYO9A0.83
597Restrictive cardiomyopathyEnrichmentMYH70.80
598Congenital long qt syndromeEnrichmentITPR30.80
599Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.79
600Familial colorectal cancerEnrichmentPLA2G2A0.79
601Focal segmental glomerulosclerosisEnrichmentPLCE10.79
602Melanoma, cutaneous malignant 1EnrichmentBRAF0.79
603Dandy-walker syndromeEnrichmentBRAF0.79
604Heart, malformation ofEnrichmentMAPK10.77
605Normosmic congenital hypogonadotropic hypogonadismEnrichmentGNRH10.77
606Microphthalmia/coloboma 12EnrichmentMYH100.77
607Familial isolated dilated cardiomyopathyEnrichmentMYH6, MYH70.76
608Movement diseaseEnrichmentGNAO10.76
609CiliopathyEnrichmentNEK40.76
610Arteriovenous malformations of the brainEnrichmentBRAF0.75
611Diffuse large b-cell lymphomaEnrichmentBRAF0.75
612Multiple sclerosisEnrichmentITPR10.74
613Heart diseaseEnrichmentMYL20.74
614Colorectal cancerEnrichmentAURKA, PLA2G2A, SLC9A90.71
615Coloboma of maculaEnrichmentMYH100.71
616Usher syndrome, type iEnrichmentMYO7A0.71
617Anterior segment dysgenesisEnrichmentITPR10.71
618Stereotypic movement disorderEnrichmentCDKL50.69
619Nk-cell enteropathyEnrichmentAURKB0.69
620Wolff-parkinson-white syndromeEnrichmentMYH70.69
621HypertensionEnrichmentMYH90.69
622Alzheimer disease, familial, 1EnrichmentNOS30.66
623Seckel syndromeEnrichmentPLK40.66
624Patent foramen ovaleEnrichmentMYH60.64
625Rare genetic intellectual disabilityEnrichmentGNAO10.64
626Male infertility with spermatogenesis disorderEnrichmentAURKC0.64
627CraniosynostosisEnrichmentNPR20.60
628Myeloma, multipleEnrichmentAURKA, MST1R0.59
629Differentiated thyroid carcinomaEnrichmentBRAF0.58
630LissencephalyEnrichmentACTG10.58
631Charcot-marie-tooth disease type 4EnrichmentPLD30.57
632Myocardial infarctionEnrichmentGUCY1A10.57
633Lung cancerEnrichmentBRAF0.55
634Familial atrial fibrillationEnrichmentMYL40.53
635Autism spectrum disorderEnrichmentGNB1, MAP2K10.51
636Hydrops fetalis, nonimmuneEnrichmentACTA10.50
637Non-syndromic male infertility due to sperm motility disorderEnrichmentCATSPER10.48
638Pancreatic cancerEnrichmentSTK110.45
639Non-immune hydrops fetalisEnrichmentACTA10.44
640Connective tissue diseaseEnrichmentACTA20.43
641Usher syndromeEnrichmentMYO7A0.42
642Primary ciliary dyskinesiaEnrichmentPRKAR1B, STK360.42
643CakutEnrichmentACTG10.41
644Leber plus diseaseEnrichmentCNGB3, GUCY2D0.40
645Fetal akinesia deformation sequence 1EnrichmentACTA10.38
646Primary autosomal recessive microcephalyEnrichmentCIT0.37
647Severe combined immunodeficiencyEnrichmentSTK40.36
648ThrombocytopeniaEnrichmentMYH90.30
649Charcot-marie-tooth diseaseEnrichmentPLD30.29
650AutismEnrichmentCAMK2G0.28
651HypertelorismEnrichmentMYH100.28
652Gastric cancerEnrichmentSTK110.28
653Hereditary breast ovarian cancer syndromeEnrichmentMYO7A0.26
654Primary ovarian insufficiencyEnrichmentNOS30.24
655SchizophreniaEnrichmentGABRB20.19
656Inherited cancer-predisposing syndromeEnrichmentPRKAR1A, STK110.17

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