L1CAM interactions

Pathway network for the L1CAM interactions SuperPath

Sources:
  • Reactome

Pathways in the L1CAM interactions SuperPath

#NameSourceGenes
1L1CAM interactionsReactome
2Recycling pathway of L1Reactome
3CHL1 interactionsReactome
4NrCAM interactionsReactome
5Neurofascin interactionsReactome
6Respiratory syncytial virus genome transcriptionReactome

Gene overlap in member pathways for L1CAM interactions SuperPath

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

Disorders associated with L1CAM interactions SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Respiratory syncytial virus infectious diseaseDirect
2LissencephalyEnrichmentACTG1, TUBA1A, TUBA3E, TUBB2B, TUBB38.01
3Self-limited infantile epilepsyEnrichmentKCNQ2, KCNQ3, SCN2A, SCN8A7.54
4Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB37.35
5West syndromeEnrichmentDNM1, KCNQ2, SCN1A, SCN2A, SCN8A, SPTAN1, TUBA1A6.98
6TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B6.75
7Developmental and epileptic encephalopathyEnrichmentKCNQ2, SCN1A, SCN2A, SCN3A, SCN8A, SPTAN16.18
8Hereditary sodium channelopathy-related small fibers neuropathyEnrichmentSCN10A, SCN11A, SCN9A6.17
9Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB36.06
10Dravet syndromeEnrichmentSCN1A, SCN1B, SCN2A, SCN9A5.93
11Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB3, TUBA8, TUBB15.93
12Benign epilepsy with centrotemporal spikesEnrichmentKCNQ3, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN15.83
13Familial atrial fibrillationEnrichmentSCN1B, SCN2B, SCN3B, SCN4B, SCN5A5.73
14Centralopathic epilepsyEnrichmentKCNQ3, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN15.71
15Erythermalgia, primaryEnrichmentSCN10A, SCN11A, SCN9A5.57
16Brugada syndromeEnrichmentSCN10A, SCN1B, SCN2B, SCN3B, SCN5A5.55
17Generalized epilepsy with febrile seizures plusEnrichmentSCN1A, SCN1B, SCN2A, SCN9A5.26
18Paroxysmal extreme pain disorderEnrichmentSCN10A, SCN11A, SCN9A5.18
19Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, DNM1, SCN1A, SCN1B, SCN3A, SCN8A5.02
20Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.89
21Hereditary spherocytosisEnrichmentANK1, SPTA1, SPTB4.88
22Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB34.88
23Complex neurodevelopmental disorderEnrichmentANK2, CNTN2, CSNK2A1, DLG4, NRCAM, SCN2A, SCN8A, SPTBN14.86
24Fetal akinesia deformation sequence 1EnrichmentCNTNAP1, SCN4A, SCN5A, SCN8A, TUBA1A4.76
25Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentSCN3A, TUBA1A, TUBB2B4.64
26Neuropathy, hereditary sensory and autonomic, type vEnrichmentSCN10A, SCN11A, SCN9A4.64
27Focal epilepsyEnrichmentSCN2A, SCN8A, SPTAN14.64
28Developmental and epileptic encephalopathy 14EnrichmentKCNQ2, SCN1A, SCN2A4.26
29Bilateral perisylvian polymicrogyriaEnrichmentSCN3A, TUBA1A, TUBB2B4.26
30Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC, CSNK2B, DPYSL2, KCNQ2, SCN8A4.11
31Seizures, benign familial neonatal, 2EnrichmentKCNQ2, KCNQ34.11
32Pyropoikilocytosis, hereditaryEnrichmentSPTA1, SPTB4.11
33Seizures, benign familial infantile, 3EnrichmentKCNQ2, SCN2A4.11
34Benign familial neonatal epilepsyEnrichmentKCNQ3, SCN2A4.11
35Seizures, benign familial infantile, 5EnrichmentKCNQ3, SCN8A4.11
36Self-limited neonatal epilepsyEnrichmentKCNQ2, KCNQ34.11
37Benign neonatal seizuresEnrichmentKCNQ3, SCN2A4.11
38Long qt syndrome 1EnrichmentANK2, SCN10A, SCN4B, SCN5A3.87
39Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB33.64
40Generalized epilepsy with febrile seizures plus, type 1EnrichmentSCN1A, SCN1B3.64
41Autism spectrum disorderEnrichmentANK2, CNTN6, CSNK2A1, CSNK2B, MAP2K1, SCN2A3.39
42EpilepsyEnrichmentSCN1A, SCN2A, SCN3A, SCN8A3.38
43Congenital myopathy 12EnrichmentCNTN13.35
44Lissencephaly, x-linked, 1EnrichmentDCX3.35
45Lethal congenital contracture syndrome 7EnrichmentCNTNAP13.35
468p11.2 deletion syndromeEnrichmentANK13.35
47Neuropathy, congenital hypomyelinating, 3EnrichmentCNTNAP13.35
48Neurodevelopmental disorder with neuromuscular and skeletal abnormalitiesEnrichmentNRCAM3.35
49Neurodevelopmental disorder with central and peripheral motor dysfunctionEnrichmentNFASC3.35
50Dcx-related disordersEnrichmentDCX3.35
51Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K23.34
52Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K23.34
53Hereditary elliptocytosisEnrichmentSPTA1, SPTB3.34
54Hereditary progressive cardiac conduction defectEnrichmentSCN1B, SCN5A3.34
55Distal arthrogryposisEnrichmentCNTNAP1, SCN4A, SCN5A, SCN8A3.30
56Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA23.18
57Specific learning disabilityEnrichmentMAPK1, RPS6KA33.16
58ThrombocytopeniaEnrichmentITGA2B, ITGB3, SRC, TUBB13.08
59MicrocephalyEnrichmentACTB, ACTG1, MAPK1, TUBB4A3.00
60Epilepsy, early-onset, 5, with or without developmental delayEnrichmentCNTN22.99
61Intellectual developmental disorder, x-linked 90EnrichmentDLG32.99
62Vulto-van silfhout-de vries syndromeEnrichmentDLG42.99
63Band heterotopiaEnrichmentDCX2.88
64Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentCNTNAP12.88
65Developmental and epileptic encephalopathy 1EnrichmentKCNQ2, SCN1A, SCN8A2.87
66Heart defects, congenital, and other congenital anomaliesEnrichmentDLG42.81
67Intellectual developmental disorder, autosomal dominant 62EnrichmentDLG42.81
68Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizuresEnrichmentDLG42.81
69Dlg4-related synaptopathyEnrichmentDLG42.81
70Brugada syndrome 1EnrichmentSCN10A, SCN5A2.80
71Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB32.80
72Hemolytic anemiaEnrichmentSPTA1, SPTB2.80
73FucosidosisEnrichmentDCX2.75
74Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDLG42.69
75Lennox-gastaut syndromeEnrichmentDNM1, SCN1A2.68
76Spherocytosis, type 1EnrichmentANK12.66
77Myoclonic-atonic epilepsyEnrichmentAP2M1, SCN1A2.57
78Familial adult myoclonic epilepsyEnrichmentCNTN22.51
79Arthrogryposis, distal, type 1aEnrichmentCNTNAP12.45
80Hydrocephalus due to congenital stenosis of aqueduct of sylviusEnrichmentL1CAM2.44
81Baraitser-winter syndrome 1EnrichmentACTB2.44
82Coffin-lowry syndromeEnrichmentRPS6KA32.44
83Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.44
84Intellectual developmental disorder, x-linked 100EnrichmentKIF4A2.44
85Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S12.44
86Immunodeficiency 50EnrichmentMSN2.44
87Taurodontism, microdontia, and dens invaginatusEnrichmentKIF4A2.44
88Deafness, autosomal recessive 24EnrichmentRDX2.44
89Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM22.44
90Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.44
91Noonan syndrome 13EnrichmentMAPK12.44
92Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.44
93Corpus callosum, partial agenesis of, x-linkedEnrichmentL1CAM2.44
94Hydrocephalus, congenital, x-linkedEnrichmentL1CAM2.44
95Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.44
96Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.44
97Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.44
98Masa syndromeEnrichmentL1CAM2.44
99Becker nevus syndromeEnrichmentACTB2.44
100Dystonia-deafness syndrome 1EnrichmentACTB2.44
101Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.44
102Lethal congenital contracture syndrome 5EnrichmentDNM22.44
103Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.44
104Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.44
105Thrombocytopenia 6EnrichmentSRC2.44
106Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.44
107Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.44
108Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.44
109Baraitser-winter syndromeEnrichmentACTB2.44
110Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.44
111Congenital myopathy 26EnrichmentTUBA4A2.44
112Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.44
113Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.44
114Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.44
115Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM22.44
116Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.44
117Congenital smooth muscle hamartomaEnrichmentACTB2.44
118Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.44
119X-linked complicated spastic paraplegia type 1EnrichmentL1CAM2.44
120AutismEnrichmentCNTN6, SCN1A, SCN2A, SCN8A2.42
121Lung non-small cell carcinomaEnrichmentEGFR, MAP2K12.39
122Cardiac conduction defectEnrichmentSCN1B, SCN5A2.32
123Protein-deficiency anemiaEnrichmentSPTA1, SPTB2.25
124Cleft lip/palateEnrichmentDLG12.14
125Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A2.14
126Deafness, autosomal dominant 20EnrichmentACTG12.14
127Baraitser-winter syndrome 2EnrichmentACTG12.14
128Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A2.14
129Keratoconus 9EnrichmentTUBA3D2.14
130Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A2.14
131Lissencephaly 3EnrichmentTUBA1A2.14
132Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB32.14
133Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M12.14
134Torsion dystonia 4EnrichmentTUBB4A2.14
135Continuous spikes and waves during sleepEnrichmentTUBA1A2.14
136Non-syndromic genetic deafnessEnrichmentACTG1, RDX2.13
137Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, MAP2K22.12
138GliosarcomaEnrichmentEGFR, FGFR12.07
139Neural tube defectsEnrichmentITGB12.07
140Cerebral palsyEnrichmentTUBA1A, TUBB4A2.06
141Elliptocytosis 2EnrichmentSPTA12.05
142Osteoglophonic dysplasiaEnrichmentFGFR12.05
143Trigonocephaly 1EnrichmentFGFR12.05
144Cardiac arrhythmia, ankyrin-b-relatedEnrichmentANK22.05
145Spinocerebellar ataxia 5EnrichmentSPTBN22.05
146Brugada syndrome 5EnrichmentSCN1B2.05
147Melorheostosis, isolatedEnrichmentMAP2K12.05
148Long qt syndrome 10EnrichmentSCN4B2.05
149Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.05
150Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.05
151Intellectual developmental disorder, autosomal recessive 37EnrichmentANK32.05
152Episodic pain syndrome, familial, 3EnrichmentSCN11A2.05
153Developmental and epileptic encephalopathy 7EnrichmentKCNQ22.05
154Developmental and epileptic encephalopathy 11EnrichmentSCN2A2.05
155Lissencephaly 5EnrichmentLAMB12.05
156Neuropathy, hereditary sensory and autonomic, type viiEnrichmentSCN11A2.05
157Atrial fibrillation, familial, 14EnrichmentSCN2B2.05
158Spherocytosis, type 3EnrichmentSPTA12.05
159Myoclonus, familial, 2EnrichmentSCN8A2.05
160Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.05
161Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B2.05
162Developmental and epileptic encephalopathy 62EnrichmentSCN3A2.05
163Long qt syndrome 4EnrichmentANK22.05
164Atrial fibrillation, familial, 13EnrichmentSCN1B2.05
165Spinocerebellar ataxia, autosomal recessive 14EnrichmentSPTBN22.05
166Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN12.05
167Prostate cancer/brain cancer susceptibilityEnrichmentEPHB22.05
168MelorheostosisEnrichmentMAP2K12.05
169Hyperpigmentation, familial progressive, 1EnrichmentSPTA12.05
170Episodic ataxia, type 9EnrichmentSCN2A2.05
171Episodic pain syndrome, familial, 2EnrichmentSCN10A2.05
172Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.05
173Benign familial infantile epilepsyEnrichmentSCN2A2.05
174Brugada syndrome 7EnrichmentSCN3B2.05
175Epilepsy, familial focal, with variable foci 4EnrichmentSCN3A2.05
176Hartsfield syndromeEnrichmentFGFR12.05
177Bleeding disorder, platelet-type, 22EnrichmentEPHB22.05
178Spherocytosis, type 2EnrichmentSPTB2.05
179Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.05
180Elliptocytosis 3EnrichmentSPTB2.05
181Muscular channelopathyEnrichmentSCN4A2.05
182Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.05
183Developmental delay with or without epilepsyEnrichmentSPTAN12.05
184Kcnq3-related disordersEnrichmentKCNQ32.05
185Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.05
186Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.05
187Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.05
188Kcnq2-related disordersEnrichmentKCNQ22.05
189Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.05
190Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.05
191Sudden infant death syndromeEnrichmentSCN1A, SCN5A2.01
192Giant cell glioblastomaEnrichmentEGFR, FGFR12.01
193Nonsyndromic hearing lossEnrichmentACTG1, RDX2.00
194Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.97
195Myopathy, centronuclear, x-linkedEnrichmentDNM21.97
196Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.97
197Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.97
198Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.97
199Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.97
200Developmental and epileptic encephalopathy 31bEnrichmentDNM11.97
201Early infantile developmental and epileptic encephalopathyEnrichmentSCN1B, SCN2A1.97
202Spastic ataxiaEnrichmentSCN2A, SPTAN1, TUBB31.94
203Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.84
204Aminoacylase 1 deficiencyEnrichmentACTB1.84
205Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.84
206Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.84
207Congenital nervous system abnormalityEnrichmentANK3, DCX, TUBA1A, TUBB4A1.84
208Nervous system diseaseEnrichmentANK3, DCX, TUBA1A, TUBB4A1.84
209Noonan syndrome 1EnrichmentMAP2K1, MAP2K21.76
210Seizures, benign familial neonatal, 1EnrichmentKCNQ21.75
211Atrial standstill 1EnrichmentSCN5A1.75
212Progressive familial heart block, type iaEnrichmentSCN5A1.75
213Paramyotonia congenitaEnrichmentSCN4A1.75
214Batten-turner congenital myopathyEnrichmentSCN4A1.75
215Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.75
216Indifference to pain, congenital, autosomal recessiveEnrichmentSCN9A1.75
217Sick sinus syndrome 1EnrichmentSCN5A1.75
218Myotonia, potassium-aggravatedEnrichmentSCN4A1.75
219Pfeiffer syndromeEnrichmentFGFR11.75
220Jackson-weiss syndromeEnrichmentFGFR11.75
221Lissencephaly 1EnrichmentLAMB11.75
222Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.75
223Chudley-mccullough syndromeEnrichmentSPTB1.75
224Atrial fibrillation, familial, 10EnrichmentSCN5A1.75
225Migraine, familial hemiplegic, 3EnrichmentSCN1A1.75
226Neurodevelopmental disorder with hypotonia, neuropathy, and deafnessEnrichmentSPTBN41.75
227Cognitive impairment with or without cerebellar ataxiaEnrichmentSCN8A1.75
228Long qt syndrome 3EnrichmentSCN5A1.75
229Developmental and epileptic encephalopathy 6bEnrichmentSCN1A1.75
230Sinoatrial node diseaseEnrichmentSCN5A1.75
231Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.75
232Congenital myopathy 22a, classicEnrichmentSCN4A1.75
233Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.75
234Congenital myopathy 22b, severe fetalEnrichmentSCN4A1.75
235Myasthenic syndrome, congenital, 16EnrichmentSCN4A1.75
236Rosette-forming glioneuronal tumorEnrichmentFGFR11.75
237Developmental and epileptic encephalopathy 30EnrichmentSCN2A1.75
238Congenital hemolytic anemiaEnrichmentSPTA11.75
239Ichthyosis, congenital, autosomal recessive 10EnrichmentKCNQ21.75
240Hypokalemic periodic paralysis, type 2EnrichmentSCN4A1.75
241Scn1a seizure disordersEnrichmentSCN1A1.75
242Interfrontal craniofaciosynostosisEnrichmentFGFR11.75
243Malignant migrating partial seizures of infancyEnrichmentSCN2A1.75
244Developmental and epileptic encephalopathy 76EnrichmentSCN1A1.75
245Small fiber neuropathyEnrichmentSCN9A1.75
246Isolated atrial standstillEnrichmentSCN5A1.75
247Tafro syndromeEnrichmentMAP2K21.75
248Developmental and epileptic encephalopathy 31aEnrichmentDNM11.75
249Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentL1CAM1.75
250Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.75
251Coloboma of choroid and retinaEnrichmentACTG11.75
252Non-syndromic x-linked intellectual disabilityEnrichmentDLG31.73
253Myopathy, centronuclear, 1EnrichmentDNM21.67
254Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.67
255Inflammatory myofibroblastic tumorEnrichmentCLTC1.67
256Early myoclonic encephalopathyEnrichmentTUBA1A1.67
257Multicystic kidney dysplasiaEnrichmentKIF4A1.67
258Multicystic dysplastic kidneyEnrichmentKIF4A1.67
259RasopathyEnrichmentMAP2K1, MAP2K21.66
260MyelofibrosisEnrichmentSRC1.60
261Noonan syndrome 3EnrichmentCLTC1.60
262Renal cell carcinoma with mit translocationsEnrichmentCLTC1.60
263Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.58
264Dystonia 12EnrichmentSCN2A1.58
265Prognathism, mandibularEnrichmentCSNK2B1.58
266Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.58
267Langerhans cell histiocytosisEnrichmentMAP2K11.58
268Generalized epilepsy with febrile seizures plus, type 2EnrichmentSCN1A1.58
269Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.58
270Developmental and epileptic encephalopathy 13EnrichmentSCN8A1.58
271Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.58
272Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.58
273Generalized epilepsy with febrile seizures plus, type 7EnrichmentSCN9A1.58
274Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.58
275Tremor, hereditary essential, 6EnrichmentSCN4A1.58
276Poretti-boltshauser syndromeEnrichmentLAMA11.58
277Bleeding disorder, platelet-type, 24EnrichmentITGB31.58
278Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.58
279Hereditary episodic ataxiaEnrichmentSCN2A1.58
280Gastroesophageal refluxEnrichmentRPS6KA31.54
281Orthostatic intoleranceEnrichmentRPS6KA31.54
282CryptorchidismEnrichmentTUBA1A1.54
283Long qt syndromeEnrichmentANK2, SCN5A1.52
284Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.49
285Ventricular septal defectEnrichmentRPS6KA31.49
286Hydrops fetalisEnrichmentL1CAM1.49
287Rare genetic deafnessEnrichmentACTG1, RDX1.48
288Neuropathy, hereditary sensory and autonomic, type iiaEnrichmentSCN9A1.46
289Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.46
290Ventricular fibrillation, paroxysmal familial, 1EnrichmentSCN5A1.46
291Long qt syndrome 2EnrichmentSCN5A1.46
292Hyperkalemic periodic paralysisEnrichmentSCN4A1.46
293Developmental and epileptic encephalopathy 12EnrichmentSCN2A1.46
294Hereditary sensory and autonomic neuropathy type 2EnrichmentSCN9A1.46
295Developmental and epileptic encephalopathy 52EnrichmentSCN1B1.46
296EnophthalmosEnrichmentCSNK2B1.46
297SyndactylyEnrichmentCSNK2B1.46
298Atrial fibrillationEnrichmentSCN5A1.46
299Sotos syndrome 1EnrichmentSCN4A1.46
300Episodic ataxiaEnrichmentSCN2A1.46
301Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.46
302Familial or sporadic hemiplegic migraineEnrichmentSCN1A1.46
303Sick sinus syndromeEnrichmentSCN5A1.46
304Paroxysmal familial ventricular fibrillationEnrichmentSCN5A1.46
305Familial sick sinus syndromeEnrichmentSCN5A1.46
306Cat eye syndromeEnrichmentACTG11.45
307SchizophreniaEnrichmentCNTN61.41
308Congenital hypothyroidismEnrichmentTUBB11.37
309Sotos syndromeEnrichmentSCN4A1.36
310Convulsions, familial infantile, with paroxysmal choreoathetosisEnrichmentSCN8A1.36
311Glanzmann thrombasthenia 2EnrichmentITGB31.36
312Heart conduction diseaseEnrichmentSCN5A1.36
313Pervasive developmental disorderEnrichmentSPTBN11.36
314Cardiac arrestEnrichmentSCN5A1.36
315HoloprosencephalyEnrichmentFGFR11.36
316Sensory peripheral neuropathyEnrichmentSCN11A1.36
317Primary hypereosinophilic syndromeEnrichmentFGFR11.36
318Rare pervasive developmental disorderEnrichmentSPTBN11.36
319Stereotypic movement disorderEnrichmentDNM11.34
320MyopathyEnrichmentDNM2, SCN4A1.31
321OsteoporosisEnrichmentSRC1.31
322Hypokalemic periodic paralysis, type 1EnrichmentSCN4A1.28
323Cowden syndrome 1EnrichmentEGFR1.28
324Holoprosencephaly 1EnrichmentFGFR11.28
325Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentANK21.28
326Pain disorderEnrichmentSCN4A1.28
327Lung squamous cell carcinomaEnrichmentEGFR1.28
328Corpus callosum, agenesis ofEnrichmentTUBA1A1.28
329HydrocephalusEnrichmentKIF4A1.28
330Isolated corpus callosum agenesisEnrichmentTUBA1A1.28
331Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A1.28
332Hydrocephalus, congenital, 1EnrichmentKIF4A1.25
333Isolated congenital microcephalyEnrichmentTUBA3E1.25
334Dandy-walker syndromeEnrichmentTUBA1A1.22
335Squamous cell carcinoma, head and neckEnrichmentEGFR1.22
336Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.22
337Pilomyxoid astrocytomaEnrichmentFGFR11.22
338Heart, malformation ofEnrichmentMAPK11.20
339Alternating hemiplegia of childhoodEnrichmentSCN2A1.16
340Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentANK21.16
341Centronuclear myopathyEnrichmentDNM21.14
342Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.11
343Arteriovenous malformationEnrichmentMAP2K11.11
344Hypogonadotropic hypogonadismEnrichmentFGFR11.11
345Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentSCN5A1.11
346Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.07
347PolymicrogyriaEnrichmentSCN3A1.07
348Auditory neuropathyEnrichmentTUBB4A1.05
349Epilepsy, myoclonic juvenileEnrichmentKCNQ31.03
350Movement diseaseEnrichmentSCN2A1.03
351EpicanthusEnrichmentKCNQ20.99
352Septooptic dysplasiaEnrichmentFGFR10.99
353Lip and oral cavity carcinomaEnrichmentEGFR0.99
354Congenital long qt syndromeEnrichmentSCN5A0.99
355Postsynaptic congenital myasthenic syndromesEnrichmentSCN4A0.99
356CakutEnrichmentACTG10.94
357Multiple sclerosisEnrichmentLAMB10.93
358Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.93
359MedulloblastomaEnrichmentANK30.93
360Lung cancer susceptibility 3EnrichmentEGFR0.93
361Wolff-parkinson-white syndromeEnrichmentSCN5A0.88
362Arrhythmogenic right ventricular cardiomyopathyEnrichmentSCN5A0.88
363Microform holoprosencephalyEnrichmentFGFR10.88
364Lobar holoprosencephalyEnrichmentFGFR10.88
365Charcot-marie-tooth diseaseEnrichmentDNM20.86
366Cardiomyopathy, dilated, 1eEnrichmentSCN5A0.85
367Optic atrophy plus syndromeEnrichmentTUBB60.83
368Neuromuscular diseaseEnrichmentSPTAN10.83
369Semilobar holoprosencephalyEnrichmentFGFR10.83
370Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.83
371Arteriovenous malformations of the brainEnrichmentEGFR0.81
372Congenital myopathyEnrichmentSCN4A0.81
373HypertelorismEnrichmentRPS6KA30.76
374Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.76
375Myocardial infarctionEnrichmentITGB30.75
376Tooth agenesisEnrichmentFGFR10.75
377MalariaEnrichmentSCN8A0.73
378Kallmann syndromeEnrichmentFGFR10.73
379Autosomal recessive non-syndromic intellectual disabilityEnrichmentEZR0.72
380Jeune thoracic dystrophyEnrichmentSPTAN10.70
381Asphyxiating thoracic dystrophyEnrichmentSPTAN10.66
382Bladder cancerEnrichmentEGFR0.64
383Prostate cancerEnrichmentEPHB20.64
384Severe covid-19EnrichmentITGAV0.64
385Lung cancerEnrichmentEGFR0.61
386Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.59
387Left ventricular noncompactionEnrichmentSCN5A0.57
388Colorectal cancerEnrichmentSRC0.57
389Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentRDX0.56
390Leber plus diseaseEnrichmentTUBB4B0.53
391Hereditary spastic paraplegiaEnrichmentSPTAN10.51
392Body mass index quantitative trait locus 11EnrichmentSCN1A0.44
393Familial isolated dilated cardiomyopathyEnrichmentSCN5A0.42
394Dilated cardiomyopathyEnrichmentSCN5A0.29
395Ovarian cancerEnrichmentEGFR0.23
396Inherited cancer-predisposing syndromeEnrichmentEGFR0.16
397Hereditary retinal dystrophyEnrichmentLAMA10.03
398Fundus dystrophyEnrichmentLAMA10.03

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