Transmission across Chemical Synapses

Pathway network for the Transmission across Chemical Synapses SuperPath

Sources:
  • Reactome

Pathways in the Transmission across Chemical Synapses SuperPath

#NameSourceGenes
1Transmission across Chemical SynapsesReactome
(see all 271) (see less)
2Neuronal SystemReactome
(see all 407) (see less)
3Neurotransmitter receptors and postsynaptic signal transmissionReactome
(see all 206) (see less)

Gene overlap in member pathways for Transmission across Chemical Synapses SuperPath

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

Disorders associated with Transmission across Chemical Synapses SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNG2, CAMK2A, CAMK2B, EPB41L1, ERBB4, GABBR1, GNB1, GRIA1, GRIN1, GRIN2B, KCNQ2, KCNQ5, NBEA, SLC6A19.88
2Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, GABBR2, GABRA2, GABRA5, GABRB2, GABRG2, GRIN2D, HCN1, KCNA2, KCNB1, KCNC2, SLC1A29.13
3Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D2, GRIA3, HCN1, KCNB1, KCNC2, KCNH5, KCNQ2, SNAP25, STXBP17.17
4Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB35.46
5Congenital short qt syndromeEnrichmentCACNA2D1, KCNH2, KCNJ2, KCNQ15.41
6Brugada syndromeEnrichmentABCC9, CACNA2D1, CACNB2, HCN4, KCND3, KCNH2, KCNJ85.08
7Presynaptic congenital myasthenic syndromesEnrichmentCHAT, SLC18A3, SLC5A7, SNAP25, SYT25.02
8Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.86
9Myasthenic syndrome, congenital, 1b, fast-channelEnrichmentCHRNA1, CHRND, CHRNE4.86
10Autosomal dominant nocturnal frontal lobe epilepsyEnrichmentCHRNA4, CHRNB2, GABRG24.86
11TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B4.86
12Tobacco addictionEnrichmentCHRNA4, GABBR2, SLC6A34.51
13West syndromeEnrichmentGRIA3, GRIN1, GRIN2B, KCNA2, KCNQ2, PLCB1, STXBP1, TUBA1A4.38
14Familial atrial fibrillationEnrichmentABCC9, KCNA5, KCNJ2, KCNJ3, KCNJ5, KCNQ14.22
15Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB34.18
16Childhood absence epilepsyEnrichmentGABRA1, GABRB3, GABRG24.18
17Nevus, epidermalEnrichmentHRAS, KRAS, NRAS3.94
18Myasthenic syndrome, congenital, 1a, slow-channelEnrichmentCHRNA1, CHRND, CHRNE3.94
19Autosomal dominant sleep-related hypermotor epilepsyEnrichmentCHRNA2, CHRNA4, CHRNB23.94
20EpilepsyEnrichmentGABRA1, GABRB3, GRIN2A, GRIN2B, NBEA, SYN13.88
21DystoniaEnrichmentCAMK2B, CASK, GNAL, GNB1, GRIA33.76
22Multiple pterygium syndrome, lethal typeEnrichmentCHRNA1, CHRND, CHRNG3.74
23Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.74
24Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, KCNH2, KCNJ5, KCNQ13.65
25Andersen cardiodysrhythmic periodic paralysisEnrichmentKCNJ2, KCNJ53.64
26Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.64
27Smoking as a quantitative trait locus 3EnrichmentCHRNA3, CHRNA53.64
28Cerebral visual impairmentEnrichmentGNB1, GRIK23.64
29LissencephalyEnrichmentTUBA1A, TUBA3E, TUBB2B, TUBB33.60
30Myasthenic syndrome, congenital, 21, presynapticEnrichmentCHAT, SLC18A33.40
31Lennox-gastaut syndromeEnrichmentCACNA1A, GABRB3, GABRG23.39
32Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS3.28
33Congenital myasthenic syndromeEnrichmentCHAT, CHRNA1, CHRNE, SYT23.20
34Epilepsy, nocturnal frontal lobe, 1EnrichmentCHRNA4, CHRNB23.17
35Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.17
36Postsynaptic congenital myasthenic syndromesEnrichmentCHRNA1, CHRND, CHRNE3.16
37Fetal akinesia deformation sequence 1EnrichmentALDH5A1, CHRND, CHRNG, SLC18A3, TUBA1A3.10
38MicrocephalyEnrichmentCAMK2B, CASK, GNB1, GRIN2B, KCNJ10, MAPK1, SNAP25, STXBP1, TUBB4A3.10
39Seizures, benign familial neonatal, 2EnrichmentKCNQ2, KCNQ33.05
40Self-limited neonatal epilepsyEnrichmentKCNQ2, KCNQ33.05
41Cerebral palsyEnrichmentCACNA1A, GNB1, GRIN2B, TUBA1A, TUBB4A2.99
42Benign epilepsy with centrotemporal spikesEnrichmentGABRG2, GRIN1, GRIN2A, PLCB1, SLC6A12.89
43Gastroesophageal refluxEnrichmentABCC8, CHAT, RPS6KA32.87
44Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.87
45Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS2.86
46Centralopathic epilepsyEnrichmentGABRG2, GRIN1, GRIN2A, PLCB1, SLC6A12.80
47Early infantile developmental and epileptic encephalopathyEnrichmentCASK, GRIN1, KCNA1, SLC32A12.76
48Non-syndromic x-linked intellectual disabilityEnrichmentCASK, DLG3, RPS6KA3, TSPAN72.68
49Long qt syndromeEnrichmentCALM1, CALM2, KCNH2, KCNJ5, KCNQ12.67
50HyperekplexiaEnrichmentGLRA1, GLRB2.65
51Developmental and epileptic encephalopathy 2EnrichmentCACNA1A, SNAP252.63
52Zimmermann-laband syndrome 1EnrichmentKCNH1, KCNN32.58
53Cantu syndromeEnrichmentABCC9, KCNJ82.58
54Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsyEnrichmentKCNA1, KCNMA12.58
55Dend syndromeEnrichmentABCC8, KCNJ112.58
56Epilepsy, myoclonic juvenileEnrichmentCACNB4, GABRA1, KCNQ32.43
57Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS2.34
58Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B2.34
59Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.34
60Noonan syndrome 3EnrichmentHRAS, KRAS2.34
61Follicular thyroid carcinomaEnrichmentHRAS, NRAS2.34
62EpicanthusEnrichmentABCC9, KCNA6, KCNQ22.32
63Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS2.31
64Episodic kinesigenic dyskinesia 1EnrichmentKCNA1, KCNJ102.29
65Long qt syndrome 2EnrichmentKCNH2, KCNQ12.29
66Developmental and epileptic encephalopathy 12EnrichmentKCNH5, PLCB12.29
67Neonatal diabetes mellitusEnrichmentABCC8, KCNJ112.29
68Familial sick sinus syndromeEnrichmentGNB2, HCN42.29
69Congenital nervous system abnormalityEnrichmentCACNA1A, CAMK2B, CASK, GNB5, KCNJ10, TUBA1A, TUBB4A2.27
70Nervous system diseaseEnrichmentCACNA1A, CAMK2B, CASK, GNB5, KCNJ10, TUBA1A, TUBB4A2.27
71Autism spectrum disorderEnrichmentGNB1, GRIA1, GRIN2B, KCNMA1, NBEA, NRXN1, RIMS1, SHANK2, STXBP12.26
72Alcohol dependenceEnrichmentALDH2, GABRA22.25
73Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS2.22
74RasopathyEnrichmentHRAS, KRAS, NRAS2.16
75Generalized epilepsy with febrile seizures plusEnrichmentGABRG2, HCN1, SLC32A12.12
76Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.11
77Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B2.11
78Transient neonatal diabetes mellitusEnrichmentABCC8, KCNJ112.07
79HypoglycemiaEnrichmentABCC8, KCNJ112.07
80Female infertility due to oocyte meiotic arrestEnrichmentPANX1, TUBB82.07
81Self-limited infantile epilepsyEnrichmentKCNQ2, KCNQ32.07
82Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS2.03
83Dravet syndromeEnrichmentGABRA1, GABRG22.02
84Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.02
85Alternating hemiplegia of childhoodEnrichmentCACNA1A, SLC1A31.99
86Wolff-parkinson-white syndromeEnrichmentABCC9, KCNQ1, PRKAG21.95
87Non-immune hydrops fetalisEnrichmentCHRNA1, HRAS, KRAS1.95
88Frontotemporal dementia 1EnrichmentCHRNA4, CHRNB41.94
89Specific learning disabilityEnrichmentMAPK1, RPS6KA31.94
90Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCHRNA3, CHRNA4, CHRNB4, ERBB41.94
91Hyperinsulinemic hypoglycemia, familial, 1EnrichmentABCC8, KCNJ111.91
92Early myoclonic encephalopathyEnrichmentKCND2, TUBA1A1.91
93Nonsyndromic genetic hyperinsulinismEnrichmentABCC8, KCNJ111.91
94Myoclonic-atonic epilepsyEnrichmentAP2M1, SLC6A11.88
95Sudden infant death syndromeEnrichmentCALM2, KCNJ8, KCNQ11.88
96Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS1.86
97AutismEnrichmentCAMK2G, CHRNA1, NBEA, STX1A, STXBP11.84
98Auditory neuropathyEnrichmentCACNA1A, NEFL, TUBB4A1.84
99Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.82
100Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary cakutEnrichmentCHRNA31.82
101Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A1.82
102Coffin-lowry syndromeEnrichmentRPS6KA31.82
103Oculoectodermal syndromeEnrichmentKRAS1.82
104Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB31.82
105Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S11.82
106Developmental and epileptic encephalopathy 8EnrichmentARHGEF91.82
107Febrile seizures, familial, 8EnrichmentGABRG21.82
108Long qt syndrome 13EnrichmentKCNJ51.82
109Carney complex, type 1EnrichmentPRKAR1A1.82
110Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN21.82
111Short qt syndrome 3EnrichmentKCNJ21.82
112Epilepsy, nocturnal frontal lobe, 4EnrichmentCHRNA21.82
113Deafness, autosomal dominant 22EnrichmentMYO61.82
114Epilepsy, idiopathic generalized 13EnrichmentGABRA11.82
115Chromosome 20q11-q12 deletion syndromeEnrichmentEPB41L11.82
116Melanosis, neurocutaneousEnrichmentNRAS1.82
117Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.82
118Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB11.82
119Charcot-marie-tooth disease, demyelinating, type 1fEnrichmentNEFL1.82
120Noonan syndrome 6EnrichmentNRAS1.82
121Myasthenic syndrome, congenital, 3a, slow-channelEnrichmentCHRND1.82
122Deafness, autosomal recessive 44EnrichmentADCY11.82
123Developmental and epileptic encephalopathy 27EnrichmentGRIN2B1.82
124Accelerated tumor formationEnrichmentMDM21.82
125Hyperekplexia 2EnrichmentGLRB1.82
126Ventricular tachycardia, familialEnrichmentGNAI21.82
127Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.82
128Noonan syndrome 13EnrichmentMAPK11.82
129Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.82
130Hypokalemic tubulopathy and deafnessEnrichmentKCNJ161.82
131Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B1.82
132Neurodevelopmental disorder with impaired language and ataxia and with or without seizuresEnrichmentGRIK21.82
133Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.82
134Developmental and epileptic encephalopathy 74EnrichmentGABRG21.82
135Developmental and epileptic encephalopathy 79EnrichmentGABRA51.82
136Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.82
137Intellectual developmental disorder, x-linked 58EnrichmentTSPAN71.82
138Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.82
139Congenital myopathy 8EnrichmentACTN21.82
140Lessel-kubisch syndromeEnrichmentMDM21.82
141Charcot-marie-tooth disease, dominant intermediate gEnrichmentNEFL1.82
142Neurodevelopmental disorder with poor language and loss of hand skillsEnrichmentGABBR21.82
143Developmental and epileptic encephalopathy 59EnrichmentGABBR21.82
144Intellectual developmental disorder, x-linked, syndromic, wu typeEnrichmentGRIA31.82
145Deafness, autosomal recessive 37EnrichmentMYO61.82
146Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA31.82
147Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C1.82
148Cardioacrofacial dysplasia 2EnrichmentPRKACB1.82
149Epilepsy, x-linked 2, with or without impaired intellectual development and dysmorphic featuresEnrichmentGABRA31.82
150Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.82
151Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.82
152Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiencyEnrichmentCHRND1.82
153Hyperaldosteronism, familial, type iiiEnrichmentKCNJ51.82
154Myxoma, intracardiacEnrichmentPRKAR1A1.82
155Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.82
156Neurodevelopmental disorder with or without early-onset generalized epilepsyEnrichmentNBEA1.82
157Intellectual developmental disorder, autosomal recessive 6EnrichmentGRIK21.82
158Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.82
159Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalanceEnrichmentKCNJ101.82
160Developmental and epileptic encephalopathy 19EnrichmentGABRA11.82
161Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.82
162Epilepsy, nocturnal frontal lobe, 3EnrichmentCHRNB21.82
163Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.82
164Myasthenic syndrome, congenital, 3b, fast-channelEnrichmentCHRND1.82
165Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN11.82
166Spinocerebellar ataxia 14EnrichmentPRKCG1.82
167Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B1.82
168Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B1.82
169Charcot-marie-tooth disease type 1fEnrichmentNEFL1.82
170Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG21.82
171Dystonia 25EnrichmentGNAL1.82
172Long qt syndrome 16EnrichmentCALM31.82
173Amyotrophic lateral sclerosis 19EnrichmentERBB41.82
174Neurodevelopmental disorder with language impairment and behavioral abnormalitiesEnrichmentGRIA21.82
175Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A1.82
176Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A1.82
177Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.82
178Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.82
179Epilepsy, childhood absence 5EnrichmentGABRB31.82
180Developmental and epileptic encephalopathy 101EnrichmentGRIN11.82
181Atrial fibrillation, familial, 9EnrichmentKCNJ21.82
182Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN11.82
183Developmental and epileptic encephalopathy 92EnrichmentGABRB21.82
184Neurodevelopmental disorder with or without seizures and gait abnormalitiesEnrichmentGRIA41.82
185Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.82
186Cardioacrofacial dysplasia 1EnrichmentPRKACA1.82
187Thrombocytopenia 6EnrichmentSRC1.82
188Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.82
189Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB61.82
190Developmental and epileptic encephalopathy 43EnrichmentGABRB31.82
191Developmental and epileptic encephalopathy 45EnrichmentGABRB11.82
192Intellectual developmental disorder, autosomal dominant 67EnrichmentGRIA11.82
193Fraser syndrome 3EnrichmentGRIP11.82
194Sick sinus syndrome 4EnrichmentGNB21.82
195Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN21.82
196Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.82
197Intellectual developmental disorder, autosomal recessive 76EnrichmentGRIA11.82
198Neurodevelopmental disorder with language delay and variable cognitive abnormalitiesEnrichmentGABBR11.82
199Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.82
200Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA81.82
201Long qt syndrome 15EnrichmentCALM21.82
202Lissencephaly due to tuba1a mutationEnrichmentTUBA1A1.82
203Congenital myopathy 26EnrichmentTUBA4A1.82
204Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A1.82
205Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A1.82
206Syndromic x-linked intellectual disability 94EnrichmentGRIA31.82
207Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA31.82
208Charcot-marie-tooth disease type 2b5EnrichmentNEFL1.82
209Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.82
210Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B1.82
211Landau-kleffner syndromeEnrichmentGRIN2A1.82
212Cask-related intellectual disabilityEnrichmentCASK1.82
213Congenital pulmonary airway malformationEnrichmentKRAS1.82
214Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA81.82
215Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndromeEnrichmentMYO61.82
216Autosomal dominant nonsyndromic hearing loss 22EnrichmentMYO61.82
217Intellectual disability, autosomal dominant 8EnrichmentGRIN11.82
218Gria2-related neurodevelopmental disorderEnrichmentGRIA21.82
219Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A1.82
220Grin2a-related disordersEnrichmentGRIN2A1.82
221Phakomatosis pigmentokeratoticaEnrichmentHRAS1.82
222Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.82
223Rare renal tubular diseaseEnrichmentKCNJ101.82
224Neurocutaneous melanocytosisEnrichmentNRAS1.82
225Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiencyEnrichmentCHAT, CHRNE1.79
226StrabismusEnrichmentCACNA1A, GNB1, STXBP11.79
227Brugada syndrome 1EnrichmentCACNA2D1, KCNH21.77
228Neuronopathy, distal hereditary motor, autosomal dominant 7EnrichmentSLC5A71.70
229Apnea, central sleepEnrichmentCHAT1.70
230Ceroid lipofuscinosis, neuronal, 4EnrichmentDNAJC51.70
231Dicarboxylic aminoaciduriaEnrichmentSLC1A11.70
232Epilepsy, idiopathic generalized 9EnrichmentCACNB41.70
233Brugada syndrome 4EnrichmentCACNB21.70
234Episodic ataxia, type 6EnrichmentSLC1A31.70
235Yt blood group antigenEnrichmentACHE1.70
236Episodic ataxia, type 5EnrichmentCACNB41.70
237Developmental and epileptic encephalopathy 41EnrichmentSLC1A21.70
238Schizophrenia 18EnrichmentSLC1A11.70
239Intellectual developmental disorder, x-linked 50EnrichmentSYN11.70
240Developmental and epileptic encephalopathy 117EnrichmentSNAP251.70
241Developmental and epileptic encephalopathy 63EnrichmentCPLX11.70
242Dystonia 22, adult-onsetEnrichmentTSPOAP11.70
243Casgid syndromeEnrichmentGLS1.70
244Baker-gordon syndromeEnrichmentSYT11.70
245Developmental and epileptic encephalopathy 89EnrichmentGAD11.70
246Epilepsy, x-linked 1, with variable learning disabilities and behavior disordersEnrichmentSYN11.70
247Brunner syndromeEnrichmentMAOA1.70
248Gaba aminotransferase deficiencyEnrichmentABAT1.70
249Alcohol sensitivity, acuteEnrichmentALDH21.70
250Cone-rod dystrophy 7EnrichmentRIMS11.70
251X-linked epilepsy with variable learning disabilities and behavior disordersEnrichmentSYN11.70
252Parkinsonism-dystonia 1, infantile-onsetEnrichmentSLC6A31.70
253Gaba-transaminase deficiencyEnrichmentABAT1.70
254Developmental and epileptic encephalopathy 71EnrichmentGLS1.70
255Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movementsEnrichmentVAMP21.70
256Epilepsy with generalized tonic-clonic seizuresEnrichmentSNAP251.70
257Generalized epilepsy with febrile seizures plus, type 12EnrichmentSLC32A11.70
258Developmental and epileptic encephalopathy 110EnrichmentCACNA2D11.70
259Butyrylcholinesterase deficiencyEnrichmentBCHE1.70
260Developmental and epileptic encephalopathy 69EnrichmentCACNA1E1.70
261Developmental and epileptic encephalopathy 116EnrichmentGLUL1.70
262Classic dopamine transporter deficiency syndromeEnrichmentSLC6A31.70
263Aspiration pneumoniaEnrichmentCHAT1.70
264Hot water epilepsyEnrichmentSLC1A11.70
265Catechol-o-methyltransferase activity, variation inEnrichmentCOMT1.70
266Spastic ataxia-dysarthria due to glutaminase deficiencyEnrichmentGLS1.70
267Developmental and epileptic encephalopathy 114EnrichmentSLC32A11.70
268Sporadic hemiplegic migraineEnrichmentCACNA1A1.70
269Parkinsonism-dystonia, infantileEnrichmentSLC6A31.70
270Benign paroxysmal torticollis of infancyEnrichmentCACNA1A1.70
271Permanent neonatal diabetes mellitusEnrichmentABCC8, KCNJ111.65
272Isolated congenital microcephalyEnrichmentCASK, TUBA3E1.62
273Developmental and epileptic encephalopathy 14EnrichmentKCNQ2, PLCB11.55
274Episodic ataxia, type 1EnrichmentKCNA11.52
275Sick sinus syndrome 2EnrichmentHCN41.52
276Hyperopia, highEnrichmentNRXN11.52
277Bartter syndrome, type 2, antenatalEnrichmentKCNJ11.52
278Deafness and myopiaEnrichmentSLITRK61.52
279Intellectual developmental disorder, x-linked 21EnrichmentIL1RAPL11.52
280Hyperinsulinemic hypoglycemia, familial, 2EnrichmentKCNJ111.52
281Intellectual developmental disorder, x-linked 111EnrichmentSLITRK21.52
282Atrial fibrillation, familial, 7EnrichmentKCNA51.52
283Cone dystrophy with supernormal rod responsesEnrichmentKCNV21.52
284Nipples invertedEnrichmentKCNA61.52
285Breasts and/or nipples, aplasia or hypoplasia of, 1EnrichmentPTPRF1.52
286Temple-baraitser syndromeEnrichmentKCNH11.52
287Developmental and epileptic encephalopathy 7EnrichmentKCNQ21.52
288Deafness, autosomal dominant 68EnrichmentHOMER21.52
289TrichotillomaniaEnrichmentSLITRK11.52
290Autism 17EnrichmentSHANK21.52
291Short qt syndrome 1EnrichmentKCNH21.52
292Elliptocytosis 1EnrichmentEPB411.52
293Epilepsy, progressive myoclonic 7EnrichmentKCNC11.52
294Spinocerebellar ataxia, autosomal recessive 13EnrichmentGRM11.52
295Epilepsy, idiopathic generalized 17EnrichmentHCN21.52
296Intellectual disability and myopathy syndromeEnrichmentABCC91.52
297Breasts and/or nipples, aplasia or hypoplasia of, 2EnrichmentPTPRF1.52
298Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalitiesEnrichmentPPFIBP11.52
299Epilepsy, idiopathic generalized 18EnrichmentHCN41.52
300Maturity-onset diabetes of the young, type 12EnrichmentABCC81.52
301Pitt-hopkins-like syndrome 2EnrichmentNRXN11.52
302Autism x-linked 1EnrichmentNLGN31.52
303Familial febrile seizures 2EnrichmentHCN21.52
304Developmental and epileptic encephalopathy 26EnrichmentKCNB11.52
305Diabetes mellitus, transient neonatal, 3EnrichmentKCNJ111.52
306Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominantEnrichmentSYT21.52
307Developmental and epileptic encephalopathy 32EnrichmentKCNA21.52
308Spinocerebellar ataxia 19EnrichmentKCND31.52
309Migraine with aura 13EnrichmentKCNK181.52
310Diabetes mellitus, permanent neonatal, 2EnrichmentKCNJ111.52
311Pulmonary hypertension, primary, 4EnrichmentKCNK31.52
312Chromosome 2p16.3 deletion syndromeEnrichmentNRXN11.52
313Developmental and epileptic encephalopathy 24EnrichmentHCN11.52
314Maturity-onset diabetes of the young, type 13EnrichmentKCNJ111.52
315Developmental and epileptic encephalopathy 103EnrichmentKCNC21.52
316Dehydrated hereditary stomatocytosis 2EnrichmentKCNN41.52
317Autosomal dominant hyperinsulinism due to sur1 deficiencyEnrichmentABCC81.52
318Brugada syndrome 9EnrichmentKCND31.52
319Epilepsy, idiopathic generalized 16EnrichmentKCNMA11.52
320Cerebellar atrophy, developmental delay, and seizuresEnrichmentKCNMA11.52
321Spinocerebellar ataxia 44EnrichmentGRM11.52
322Generalized epilepsy with febrile seizures plus, type 10EnrichmentHCN11.52
323Autism 20EnrichmentNLGN11.52
324Zimmermann-laband syndrome 3EnrichmentKCNN31.52
325Nrxn1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbanceEnrichmentNRXN11.52
326Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatumEnrichmentKCNA41.52
327Myasthenic syndrome, congenital, 7b, presynaptic, autosomal recessiveEnrichmentSYT21.52
328Kcnq3-related disordersEnrichmentKCNQ31.52
329Congenital myasthenic syndrome 7EnrichmentSYT21.52
330Spinocerebellar ataxia type 19/22EnrichmentKCND31.52
331Diazoxide-resistant focal hyperinsulinism due to sur1 deficiencyEnrichmentABCC81.52
332Developmental and epileptic encephalopathy 112EnrichmentKCNH51.52
333Rare disease with autismEnrichmentSHANK21.52
334Congestive heart failureEnrichmentABCC81.52
335Intermediate dend syndromeEnrichmentKCNJ111.52
336Hereditary continuous muscle fiber activityEnrichmentKCNA11.52
337Kcnq2-related disordersEnrichmentKCNQ21.52
338Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.52
339Chondromyxoid fibromaEnrichmentGRM11.52
340Autosomal recessive hyperinsulinism due to sur1 deficiencyEnrichmentABCC81.52
341Cone dystrophy with supernormal rod responseEnrichmentKCNV21.52
342Isolated autosomal dominant hypomagnesemia, glaudemans typeEnrichmentKCNA11.52
343Autosomal dominant hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.52
344Autosomal recessive hyperinsulinism due to kir6.2 deficiencyEnrichmentKCNJ111.52
345SchizophreniaEnrichmentCOMT, DLG2, GABRB2, SYN21.52
346Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.52
347Hyperekplexia 1EnrichmentGLRA11.52
348Costello syndromeEnrichmentHRAS1.52
349Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.52
350Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.52
351Fg syndrome 4EnrichmentCASK1.52
352Histiocytoma, angiomatoid fibrousEnrichmentCREB11.52
353Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A1.52
354Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.52
355Keppen-lubinsky syndromeEnrichmentKCNJ61.52
356Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.52
357Lethal congenital contracture syndrome 8EnrichmentADCY61.52
358Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.52
359Night blindness, congenital stationary, type 1hEnrichmentGNB31.52
360Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.52
361Long qt syndrome 14EnrichmentCALM11.52
362Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.52
363Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.52
364Intellectual developmental disorder, x-linked 90EnrichmentDLG31.52
365Cerebellar, ocular, craniofacial, and genital syndromeEnrichmentNBEA1.52
366Keratoconus 9EnrichmentTUBA3D1.52
367Usher syndrome, type ivEnrichmentPRKAR1A1.52
368Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.52
369Intellectual developmental disorder, x-linked, syndromic, pilorge typeEnrichmentGLRA21.52
370Bilateral generalized polymicrogyriaEnrichmentGRIN11.52
371Lissencephaly 3EnrichmentTUBA1A1.52
372Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.52
373Developmental and epileptic encephalopathy 46EnrichmentGRIN2D1.52
374Syndromic x-linked intellectual disabilityEnrichmentCASK1.52
375Developmental and epileptic encephalopathy 96EnrichmentNSF1.52
376Vulto-van silfhout-de vries syndromeEnrichmentDLG41.52
377AcrodysostosisEnrichmentPRKAR1A1.52
378Chromosome 15q13.3 deletion syndromeEnrichmentCHRNA71.52
379Body mass index quantitative trait locus 19EnrichmentADCY31.52
380Fibrolamellar carcinomaEnrichmentPRKACA1.52
381Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.52
382Developmental and epileptic encephalopathy 78EnrichmentGABRA21.52
383Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M11.52
384Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.52
385HypopituitarismEnrichmentGNAI21.52
386Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.52
387Torsion dystonia 4EnrichmentTUBB4A1.52
388Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.52
389Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.52
390Continuous spikes and waves during sleepEnrichmentTUBA1A1.52
391Epilepsy-aphasia spectrumEnrichmentGRIN2A1.52
392Wooly hair nevusEnrichmentHRAS1.52
393Developmental and epileptic encephalopathy 1EnrichmentGRIN1, KCNA2, KCNQ21.42
394Sorsby fundus dystrophyEnrichmentSYN31.40
395Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.40
396Glutamine deficiency, congenitalEnrichmentGLUL1.40
397Obsessive-compulsive disorderEnrichmentSLC6A41.40
398Segawa syndrome, autosomal recessiveEnrichmentTSPOAP11.40
399Myoclonic epilepsy, familial infantileEnrichmentCPLX11.40
400Amed syndrome, digenicEnrichmentALDH21.40
401Global developmental delay, progressive ataxia, and elevated glutamineEnrichmentGLS1.40
402Dystonia 22, juvenile-onsetEnrichmentTSPOAP11.40
403Paul-chao neurodevelopmental syndromeEnrichmentPPFIA31.40
404Parkinsonism-dystonia 2, infantile-onsetEnrichmentSLC18A21.40
405Developmental and epileptic encephalopathy 16EnrichmentGLUL1.40
406Myasthenic syndrome, congenital, 20, presynapticEnrichmentSLC5A71.40
407Slc6a1-related neurodevelopmental disorderEnrichmentSLC6A11.40
408Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.40
4099q33.3q34.11 microdeletion syndromeEnrichmentSTXBP11.40
410Congenital brain dysgenesis due to glutamine synthetase deficiencyEnrichmentGLUL1.40
411Distal hereditary motor neuropathy type 7EnrichmentSLC5A71.40
412Progressive bulbar palsyEnrichmentCACNA1A1.40
413Centronuclear myopathyEnrichmentCHRNA1, CHRND1.40
414Complex neurodevelopmental disorderEnrichmentDLG4, GNB2, GRIA4, GRIK2, GRIN2B1.39
415Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.35
416Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentCASK1.35
417Heart defects, congenital, and other congenital anomaliesEnrichmentDLG41.35
418Langerhans cell histiocytosisEnrichmentNRAS1.35
419Multiple pterygium syndrome, escobar variantEnrichmentCHRNG1.35
420Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.35
421Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.35
422Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.35
423Auditory neuropathy and optic atrophyEnrichmentGRIN2C1.35
424Intellectual developmental disorder, autosomal dominant 62EnrichmentDLG41.35
425Dedifferentiated liposarcomaEnrichmentMDM21.35
426Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizuresEnrichmentDLG41.35
427Intrinsic cardiomyopathyEnrichmentACTN21.35
428Syndromic x-linked intellectual disability najm typeEnrichmentCASK1.35
429Cerebellar diseaseEnrichmentCASK1.35
430Dlg4-related synaptopathyEnrichmentDLG41.35
431SpermatocytomaEnrichmentHRAS1.35
432Melanoma of soft tissueEnrichmentCREB11.35
433Well-differentiated liposarcomaEnrichmentMDM21.35
434Thyrotoxic periodic paralysisEnrichmentGABRA31.35
435Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.35
436Congenital long qt syndromeEnrichmentKCNH2, KCNQ11.31
437ScoliosisEnrichmentCHRNG, GRIN2B1.29
438Distal arthrogryposisEnrichmentALDH5A1, CHRND, CHRNG1.29
439Arteriovenous malformations of the brainEnrichmentKRAS, SYN31.26
440Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentNEFL, SLC5A71.26
441Nk-cell enteropathyEnrichmentERBB4, PTPRS1.25
442Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIA1, GRIK2, GRIN11.24
443Van der woude syndrome 1EnrichmentCACNA1E1.23
444Myasthenic syndrome, congenital, 6, presynapticEnrichmentCHAT1.23
445Succinic semialdehyde dehydrogenase deficiencyEnrichmentALDH5A11.23
446Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A1.23
447Gyrate atrophy of choroid and retinaEnrichmentRIMS11.23
448Bronchopulmonary dysplasiaEnrichmentCHAT1.23
449Developmental and epileptic encephalopathy 94EnrichmentSLC6A11.23
450Hereditary episodic ataxiaEnrichmentCACNA1A1.23
451Hydrops fetalis, nonimmuneEnrichmentCHRNA1, HRAS1.23
452Seizures, benign familial neonatal, 1EnrichmentKCNQ21.23
453Gilles de la tourette syndromeEnrichmentSLITRK11.23
454Autism x-linked 2EnrichmentNLGN4X1.23
455Deafness, autosomal dominant 2aEnrichmentKCNQ41.23
456Cardiomyopathy, dilated, 1oEnrichmentABCC91.23
457Hypertension, diastolicEnrichmentKCNMB11.23
458Seizures, benign familial infantile, 3EnrichmentKCNQ21.23
459Spinocerebellar ataxia 13EnrichmentKCNC31.23
460Diabetes mellitus, permanent neonatal, 1EnrichmentKCNJ111.23
461Birk-barel syndromeEnrichmentKCNK91.23
462Hypoglycemia, leucine-inducedEnrichmentABCC81.23
463Atrial fibrillation, familial, 12EnrichmentABCC91.23
464Diabetes mellitus, transient neonatal, 2EnrichmentABCC81.23
465Oocyte/zygote/embryo maturation arrest 7EnrichmentPANX11.23
466Intellectual developmental disorder, autosomal dominant 46EnrichmentKCNQ51.23
467Neurodevelopmental disorder with or without variable movement or behavioral abnormalitiesEnrichmentKCNN21.23
468Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeEnrichmentKCNK41.23
469Dystonia 34, myoclonicEnrichmentKCNN21.23
470Cardiovascular system diseaseEnrichmentKCNQ11.23
471Benign familial neonatal epilepsyEnrichmentKCNQ31.23
472Congenital mesoblastic nephromaEnrichmentNTRK31.23
473Diabetes mellitus, permanent neonatal, 3EnrichmentABCC81.23
474Ichthyosis, congenital, autosomal recessive 10EnrichmentKCNQ21.23
475FibrosarcomaEnrichmentNTRK31.23
476Seizures, benign familial infantile, 5EnrichmentKCNQ31.23
477Liang-wang syndromeEnrichmentKCNMA11.23
478Dfna2 nonsyndromic hearing lossEnrichmentKCNQ41.23
479HyperinsulinismEnrichmentKCNJ111.23
480Jervell-lange nielsen syndromeEnrichmentKCNQ11.23
481Benign neonatal seizuresEnrichmentKCNQ31.23
482Chorea, benign hereditaryEnrichmentADCY51.23
483Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.23
484Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.23
485Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDLG41.23
486Mulibrey nanismEnrichmentPPM1E1.23
487Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.23
488AstigmatismEnrichmentGRIN2B1.23
489Auriculocondylar syndrome 1EnrichmentGNAI31.23
490Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.23
491Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.23
492Carney complex variantEnrichmentPRKAR1A1.23
493Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.23
494Achromatopsia 4EnrichmentGNAI31.23
495Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1bEnrichmentCHRNG1.23
496Cardiofaciocutaneous syndromeEnrichmentKRAS1.23
497Lung sarcomatoid carcinomaEnrichmentKRAS1.23
498Hereditary ataxiaEnrichmentPRKCG1.23
499Pilocytic astrocytomaEnrichmentKRAS1.23
500Epidermolytic nevusEnrichmentHRAS1.23
501Body mass index quantitative trait locus 11EnrichmentADCY3, GRIA4, KCNH2, NRXN11.20
502Bladder cancerEnrichmentHRAS, KRAS1.15
503Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentCASK1.13
504Deafness, autosomal recessive 4, with enlarged vestibular aqueductEnrichmentKCNJ101.13
505Myasthenic syndrome, congenital, 4a, slow-channelEnrichmentCHRNE1.13
506Charcot-marie-tooth disease, axonal, type 2eEnrichmentNEFL1.13
507Spastic diplegiaEnrichmentKCNJ101.13
508Myasthenic syndrome, congenital, 4b, fast-channelEnrichmentCHRNE1.13
509Sleep disorderEnrichmentGRIN2B1.13
510Familial hypertrophic cardiomyopathyEnrichmentACTN2, KCNH2, PRKAG21.12
511Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.11
512Spinocerebellar ataxia 6EnrichmentCACNA1A1.11
513Developmental and epileptic encephalopathy 4EnrichmentSTXBP11.11
514Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.11
515Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesEnrichmentGAD11.11
516Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.11
517Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.11
518Spastic quadriplegic cerebral palsyEnrichmentGAD11.11
519Episodic ataxiaEnrichmentCACNA1A1.11
520Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.11
521Peripheral nervous system diseaseEnrichmentCHRNG, NEFL1.07
522NeuropathyEnrichmentCHRNG, NEFL1.07
523Pyruvate carboxylase deficiencyEnrichmentLRFN41.06
524Atrial fibrillation, familial, 3EnrichmentKCNQ11.06
525Short qt syndrome 2EnrichmentKCNQ11.06
526Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentKCNH21.06
527Hyperinsulinemic hypoglycemiaEnrichmentABCC81.06
528Gingival overgrowthEnrichmentKCNK41.06
529Brugada syndrome 8EnrichmentHCN41.06
530Angelman syndromeEnrichmentGABRG31.06
531Li-fraumeni syndromeEnrichmentMDM21.06
532Fraser syndrome 1EnrichmentGRIP11.06
533Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.06
534Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentMYO61.06
535Epilepsy, childhood absence 1EnrichmentGABRB31.06
536Pendred syndromeEnrichmentKCNJ101.06
537Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.06
538Adrenocortical carcinomaEnrichmentPRKAR1A1.06
539Breast adenocarcinomaEnrichmentKRAS1.06
540Lung squamous cell carcinomaEnrichmentKRAS1.06
541Spastic ataxiaEnrichmentCACNB4, STXBP1, TUBB31.05
542Episodic ataxia, type 2EnrichmentCACNA1A1.02
543Deafness, autosomal recessive 63EnrichmentLRTOMT1.02
544Cardiac arrestEnrichmentCACNA2D11.02
545MyelofibrosisEnrichmentSRC0.99
546Rett syndromeEnrichmentGABBR20.99
547Capillary malformation-arteriovenous malformation 1EnrichmentKRAS0.99
548Gallbladder cancerEnrichmentKRAS0.99
549Pilomyxoid astrocytomaEnrichmentKRAS0.99
550Wolf-hirschhorn syndromeEnrichmentCPLX10.94
551AnxietyEnrichmentSLC6A40.94
552Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edemaEnrichmentKCNN40.94
553Jervell and lange-nielsen syndrome 1EnrichmentKCNQ10.94
554Epilepsy, progressive myoclonic, 4, with or without renal failureEnrichmentKCNH80.94
555Dermatitis, atopicEnrichmentKCNJ110.94
556Cardiomyopathy, familial hypertrophic, 26EnrichmentKCNH20.94
557Atrial fibrillationEnrichmentKCNQ10.94
558Color blindnessEnrichmentHCN10.94
559Hereditary elliptocytosisEnrichmentEPB410.94
560Pregnancy loss, recurrent 1EnrichmentKCNQ10.94
561Newborn respiratory distress syndromeEnrichmentABCC80.94
562GliomaEnrichmentNTRK30.94
563Orthostatic intoleranceEnrichmentRPS6KA30.94
564Rett syndrome, congenital variantEnrichmentGABBR20.94
565CryptorchidismEnrichmentTUBA1A0.94
566Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.94
567HypothyroidismEnrichmentGNB10.94
568Male infertility due to globozoospermiaEnrichmentPICK10.94
569Maturity-onset diabetes of the youngEnrichmentABCC8, KCNJ110.92
570Leukemia, acute myeloidEnrichmentKRAS, NRAS0.91
571Neurofibromatosis, type iEnrichmentGABBR10.89
572Rheumatoid arthritisEnrichmentCHRNG0.89
573Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A0.89
574Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.89
575Arteriovenous malformationEnrichmentHRAS0.89
576Ventricular septal defectEnrichmentRPS6KA30.89
577Focal epilepsyEnrichmentSNAP250.88
578Hypertrophic cardiomyopathyEnrichmentACTN2, PRKAG20.86
579PolyhydramniosEnrichmentABCC80.85
580FarsightednessEnrichmentKCNA60.85
581Myopathy, x-linked, with excessive autophagyEnrichmentHRAS0.85
582Difference of sex developmentEnrichmentCACNA1A0.83
583Epilepsy, idiopathic generalizedEnrichmentGABRA10.81
584Leukemia, acute lymphoblasticEnrichmentGNB10.81
585Myelodysplastic syndromeEnrichmentGNB10.81
586Ear malformationEnrichmentKCNQ1, MYO60.79
587ThrombocytopeniaEnrichmentSRC, TUBB10.78
588Kleefstra syndrome 1EnrichmentABCC90.78
589Patent ductus arteriosusEnrichmentABCC90.78
590HypertrichosisEnrichmentKCNJ110.78
591Congenital hypothyroidismEnrichmentTUBB10.78
592Lip and oral cavity carcinomaEnrichmentHRAS0.78
593Pulmonary disease, chronic obstructiveEnrichmentCHRNB40.74
594Acute promyelocytic leukemiaEnrichmentPRKAR1A0.74
595Protein-deficiency anemiaEnrichmentNRAS0.74
596Breast cancerEnrichmentCACNA2D1, GNG3, KRAS0.72
597Silver-russell syndrome 1EnrichmentKCNQ10.72
598Third-degree atrioventricular blockEnrichmentKCNA50.72
599Bartter diseaseEnrichmentKCNJ10.72
600OsteoporosisEnrichmentSRC0.71
601Lung cancer susceptibility 3EnrichmentKRAS0.71
602Cleft lip/palateEnrichmentDLG10.71
603Migraine with or without aura 1EnrichmentCACNA1A0.70
604Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentHOMER2, KCNQ4, MYO60.69
605Bardet-biedl syndromeEnrichmentCOMT, TSPOAP10.69
606Corpus callosum, agenesis ofEnrichmentTUBA1A0.69
607Lynch syndromeEnrichmentKRAS0.69
608Isolated corpus callosum agenesisEnrichmentTUBA1A0.69
609Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A0.69
610Rare genetic deafnessEnrichmentKCNQ1, KCNQ4, LRTOMT, MYO60.67
611Digeorge syndromeEnrichmentCOMT0.67
612Lactic acidosisEnrichmentCHAT0.67
613Fanconi anemia, complementation group cEnrichmentABCC90.66
614Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentCASK0.66
615Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN20.66
616RhabdomyosarcomaEnrichmentHRAS0.66
617Optic atrophy plus syndromeEnrichmentSNAP25, TUBB60.66
618Hypertension, essentialEnrichmentGNB30.64
619Cleft palate, isolatedEnrichmentGNB10.64
620Dandy-walker syndromeEnrichmentTUBA1A0.64
621Stereotypic movement disorderEnrichmentSNAP250.64
622Hypogonadotropic hypogonadismEnrichmentNLGN30.62
623Heart, malformation ofEnrichmentMAPK10.62
624Cystic fibrosisEnrichmentKCNN4, STX1A0.60
625Congenital myopathyEnrichmentCHRNA10.60
626Neuronal ceroid lipofuscinosisEnrichmentDNAJC50.58
627Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY1, LRTOMT, MYO60.58
628CraniosynostosisEnrichmentGRIN2B0.58
629Left ventricular noncompactionEnrichmentACTN2, HCN40.55
630Atrial heart septal defectEnrichmentABCC80.55
631Diabetes mellitusEnrichmentKCNJ110.55
632Heritable pulmonary arterial hypertensionEnrichmentKCNK30.55
633Interatrial communicationEnrichmentABCC80.55
634Attention deficit-hyperactivity disorderEnrichmentGNB50.54
635Syndromic intellectual disabilityEnrichmentSYT10.54
636Non-syndromic genetic deafnessEnrichmentKCNQ4, MYO60.53
637Congenital stationary night blindnessEnrichmentGNB30.53
638Pancreatic cancerEnrichmentKRAS0.50
639Esophageal atresia/tracheoesophageal fistulaEnrichmentGLS0.50
640Pulmonary hypertension, primary, 1EnrichmentKCNK30.49
641Chromosome 1p36 deletion syndromeEnrichmentKCNAB20.49
642Williams-beuren syndromeEnrichmentSTX1A0.48
643Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentNLGN30.46
644Cone-rod dystrophy 6EnrichmentKCNV20.46
645Type 2 diabetes mellitusEnrichmentABCC8, KCNJ110.44
646Nonsyndromic hearing lossEnrichmentKCNQ4, MYO60.44
647Colorectal cancerEnrichmentNRAS, SRC0.42
648Lung cancerEnrichmentKRAS0.41
649Beckwith-wiedemann syndromeEnrichmentKCNQ10.37
650Charcot-marie-tooth diseaseEnrichmentNEFL0.33
651Familial isolated dilated cardiomyopathyEnrichmentABCC9, ACTN20.32
652Gastric cancerEnrichmentKRAS0.32
653Hereditary breast carcinomaEnrichmentKRAS0.31
654Cone dystrophyEnrichmentKCNV20.28
655Sensorineural hearing lossEnrichmentNEFL0.28
656HypertelorismEnrichmentRPS6KA30.26
657Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.24
658Myeloma, multipleEnrichmentKRAS0.24
659Stargardt disease 1EnrichmentKCNV20.22
660Cone-rod dystrophy 2EnrichmentKCNV2, RIMS10.21
661Primary ciliary dyskinesiaEnrichmentPRKAR1B0.16
662Dilated cardiomyopathyEnrichmentACTN20.15
663Leber plus diseaseEnrichmentTUBB4B0.11
664Ovarian cancerEnrichmentKRAS0.10
665Inherited cancer-predisposing syndromeEnrichmentPRKAR1A0.06
666Hereditary retinal dystrophyEnrichmentSYN30.00
667Fundus dystrophyEnrichmentSYN30.00