TCR Signaling (Qiagen)

Pathway network for the TCR Signaling (Qiagen) SuperPath

Sources:
  • QIAGEN

Pathways in the TCR Signaling (Qiagen) SuperPath

#NameSourceGenes
1TCR SignalingQIAGEN
2ITK and TCR SignalingQIAGEN
3PKC-Theta PathwayQIAGEN
4PDGF PathwayQIAGEN
5Fc-EpsilonRI PathwayQIAGEN

Gene overlap in member pathways for TCR Signaling (Qiagen) SuperPath

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

Disorders associated with TCR Signaling (Qiagen) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS210.66
3Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS110.52
4Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, IKBKB, LCK, MALT1, PTPRC, ZAP7010.26
5Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS16.98
6Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT36.33
7T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E6.20
8Lung non-small cell carcinomaEnrichmentHRAS, KRAS, MAP2K1, NRAS6.02
9Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.78
10Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K25.73
11Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K25.73
12Long qt syndrome 1EnrichmentCACNA1C, CALM1, CALM2, CALM3, ITPR35.57
13Nevus, epidermalEnrichmentHRAS, KRAS, NRAS4.85
14Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, RASA14.80
15Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF14.65
16Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.65
17Arteriovenous malformationEnrichmentHRAS, MAP2K1, RASA14.42
18Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, RASA14.27
19Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.25
20Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.22
21Autosomal dominant non-syndromic intellectual disabilityEnrichmentCACNA1I, CACNG2, CAMK2A, CAMK2B, PPP3CA4.17
22Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB14.13
23Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB14.13
24Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB14.13
25Long qt syndromeEnrichmentCACNA1C, CACNA1S, CALM1, CALM24.09
26Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS4.06
27Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.05
28Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS3.78
29Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1A, CACNA1C3.78
30Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.78
31Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB1, ITPR13.55
32Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.48
33Mycosis fungoidesEnrichmentCD28, CTLA43.48
34Adult-onset myasthenia gravisEnrichmentCTLA4, HLA-DQA13.48
35Saczary syndromeEnrichmentCD28, CTLA43.48
36Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS, MAP3K63.36
37Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB13.36
38Pseudomyogenic hemangioendotheliomaEnrichmentACTB, FOSB3.27
39Primary hypereosinophilic syndromeEnrichmentPDGFRA, PDGFRB3.22
40Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.18
41Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.18
42Spastic ataxiaEnrichmentCACNA1G, CACNB4, ITPR1, PLA2G63.18
43Lymphoma, mucosa-associated lymphoid typeEnrichmentBCL10, MALT13.14
44Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB13.14
45Follicular lymphomaEnrichmentBCL10, HLA-DRB13.14
46Undetermined early-onset epileptic encephalopathyEnrichmentCACNA1A, CACNA1B, CACNA2D1, PPP3CA3.09
47Histiocytoid hemangiomaEnrichmentFOS, FOSB3.06
48Brugada syndromeEnrichmentCACNA1C, CACNA2D1, CACNB23.02
49Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS2.94
50Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.94
51Pilomyxoid astrocytomaEnrichmentKRAS, RAF12.94
52Follicular thyroid carcinomaEnrichmentHRAS, NRAS2.94
53MyelofibrosisEnrichmentJAK2, SRC2.91
54Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS2.88
55Lennox-gastaut syndromeEnrichmentCACNA1A, MAPK102.82
56Granulomatosis with polyangiitisEnrichmentCTLA4, HLA-DPA12.79
57Breast adenocarcinomaEnrichmentAKT1, KRAS2.79
58Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB, PDGFRB2.78
59Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C, RAC12.71
60Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB12.70
61Cerebral palsyEnrichmentCACNA1A, CACNA1C, PDGFRB2.46
62Leukemia, acute myeloidEnrichmentJAK2, KRAS, NRAS2.43
63Combined immunodeficiencyEnrichmentMALT1, ZAP702.41
64Combined t cell and b cell immunodeficiencyEnrichmentMALT1, ZAP702.41
65Combined t and b cell immunodeficiencyEnrichmentMALT1, ZAP702.41
66Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B2.35
67Colorectal cancerEnrichmentNRAS, PIK3R1, PLA2G2A, SRC2.32
68Cone-rod dystrophy 6EnrichmentCACNA1F, CACNA2D42.32
6946,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS12.20
70Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.12
71Thyrotoxic periodic paralysis 1EnrichmentCACNA1S2.12
72Oculoectodermal syndromeEnrichmentKRAS2.12
73Noonan syndrome 5EnrichmentRAF12.12
74Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G62.12
75Noonan syndrome 4EnrichmentSOS12.12
76Epilepsy, idiopathic generalized 9EnrichmentCACNB42.12
77Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.12
78Brugada syndrome 4EnrichmentCACNB22.12
79Melorheostosis, isolatedEnrichmentMAP2K12.12
80Cardiomyopathy, dilated, 1nnEnrichmentRAF12.12
81Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.12
82Melanosis, neurocutaneousEnrichmentNRAS2.12
83Fleck retina, familial benignEnrichmentPLA2G52.12
84Noonan syndrome 9EnrichmentSOS22.12
85Noonan syndrome 6EnrichmentNRAS2.12
86Episodic ataxia, type 5EnrichmentCACNB42.12
87Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.12
88Noonan syndrome 11EnrichmentMRAS2.12
89Noonan syndrome 13EnrichmentMAPK12.12
90Immunodeficiency 81EnrichmentLCP22.12
91Immunodeficiency 82 with systemic inflammationEnrichmentSYK2.12
92Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G62.12
93Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.12
94Neurodevelopmental disorder with speech impairment and with or without seizuresEnrichmentCACNA1I2.12
95Knobloch syndrome 2EnrichmentPAK22.12
96Congenital myopathy 18EnrichmentCACNA1S2.12
97Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.12
98Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC32.12
99Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.12
100Short syndromeEnrichmentPIK3R12.12
101Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.12
102Cone-rod dystrophy, x-linked, 3EnrichmentCACNA1F2.12
103Isolated growth hormone deficiency type iiiEnrichmentBTK2.12
104Retinal cone dystrophy 4EnrichmentCACNA2D42.12
105Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.12
106Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.12
107Primary aldosteronism, seizures, and neurologic abnormalitiesEnrichmentCACNA1D2.12
108Brugada syndrome 3EnrichmentCACNA1C2.12
109Epilepsy, childhood absence 6EnrichmentCACNA1H2.12
110Malignant hyperthermia 5EnrichmentCACNA1S2.12
111Parkinson disease 14, autosomal recessiveEnrichmentPLA2G62.12
112MelorheostosisEnrichmentMAP2K12.12
113Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G62.12
114Leopard syndrome 2EnrichmentRAF12.12
115Intellectual developmental disorder, autosomal dominant 10EnrichmentCACNG22.12
116Sinoatrial node dysfunction and deafnessEnrichmentCACNA1D2.12
117Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.12
118Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.12
119Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.12
120Long qt syndrome 16EnrichmentCALM32.12
121Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.12
122Spinocerebellar ataxia 42EnrichmentCACNA1G2.12
123Developmental and epileptic encephalopathy 110EnrichmentCACNA2D12.12
124Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.12
125Platelet-activating factor acetylhydrolase deficiencyEnrichmentPLA2G72.12
126Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficitsEnrichmentCACNA1G2.12
127Developmental and epileptic encephalopathy 69EnrichmentCACNA1E2.12
128Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.12
129Hyperaldosteronism, familial, type ivEnrichmentCACNA1H2.12
130Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.12
131Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.12
132TrigonitisEnrichmentRAF12.12
133Long qt syndrome 15EnrichmentCALM22.12
134Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.12
135ColitisEnrichmentSYK2.12
136Conn's syndromeEnrichmentCACNA1H2.12
137Congenital pulmonary airway malformationEnrichmentKRAS2.12
138Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.12
139Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.12
140Sporadic hemiplegic migraineEnrichmentCACNA1A2.12
141Atypical timothy syndromeEnrichmentCACNA1C2.12
142Aldosterone-producing adenoma with seizures and neurological abnormalitiesEnrichmentCACNA1D2.12
143Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.12
144Timothy syndrome type 2EnrichmentCACNA1C2.12
145Phakomatosis pigmentokeratoticaEnrichmentHRAS2.12
146Periodic paralysis with transient compartment-like syndromeEnrichmentCACNA1S2.12
147Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.12
148Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.12
149Timothy syndrome type 1EnrichmentCACNA1C2.12
150Familial benign flecked retinaEnrichmentPLA2G52.12
151Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT52.12
152Neurocutaneous melanocytosisEnrichmentNRAS2.12
153Cacna1c-related disordersEnrichmentCACNA1C2.12
154Benign paroxysmal torticollis of infancyEnrichmentCACNA1A2.12
155Cystic angiomatosis of bone, diffuseEnrichmentRASA12.11
156Intellectual developmental disorder, x-linked 30EnrichmentPAK32.11
157Premature aging syndrome, penttinen typeEnrichmentPDGFRB2.11
158Incontinentia pigmentiEnrichmentIKBKG2.11
159Intellectual developmental disorder, x-linked, syndromic, christianson typeEnrichmentSLC9A62.11
160Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.11
161Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA2.11
162Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB2.11
163Myofibromatosis, infantile, 1EnrichmentPDGFRB2.11
164Lichtenstein-knorr syndromeEnrichmentSLC9A12.11
165Fetal encasement syndromeEnrichmentCHUK2.11
166Gist-plus syndromeEnrichmentPDGFRA2.11
167Immunodeficiency 15bEnrichmentIKBKB2.11
168Pseudo-torch syndrome 3EnrichmentSTAT22.11
169Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.11
170Immunodeficiency 15aEnrichmentIKBKB2.11
171Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT62.11
172Disabling pansclerotic morphea of childhoodEnrichmentSTAT42.11
173Neurodegenerative disorder, x-linked, female-restricted, with parkinsonism and cognitive impairmentEnrichmentSLC9A62.11
174Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.11
175Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.11
176Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA2.11
177T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.11
178Systemic lupus erythematosus 11EnrichmentSTAT42.11
179Immunodeficiency 31aEnrichmentSTAT12.11
180Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB2.11
181Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.11
182Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB2.11
183Immunodeficiency 31bEnrichmentSTAT12.11
184Kosaki overgrowth syndromeEnrichmentPDGFRB2.11
185Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.11
186Thrombocytopenia 6EnrichmentSRC2.11
187Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.11
188Takenouchi-kosaki syndromeEnrichmentCDC422.11
189Bartsocas-papas syndrome 2EnrichmentCHUK2.11
190Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM12.11
191Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB2.11
192Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.11
193T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK32.11
194Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.11
195Gorham's diseaseEnrichmentRASA12.11
196Nocarh syndromeEnrichmentCDC422.11
197Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.11
198Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.11
199Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.11
200Breast cancerEnrichmentAKT1, CACNA2D1, JUN, KRAS2.08
201Pityriasis rubra pilarisEnrichmentCARD142.06
202Psoriasis 2EnrichmentCARD142.06
203Immunodeficiency 116EnrichmentCD8A2.06
20446,xy sex reversal 6EnrichmentMAP3K12.06
205Immunodeficiency 89 and autoimmunityEnrichmentCARD102.06
206Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.06
207Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.06
208Immunodeficiency 48EnrichmentZAP702.06
209Okt4 epitope deficiencyEnrichmentCD42.06
210Immunodeficiency 18EnrichmentCD3E2.06
211Persistent polyclonal b-cell lymphocytosisEnrichmentCARD112.06
212Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB12.06
213Immunodeficiency 25EnrichmentCD2472.06
214Dystonia 25EnrichmentGNAL2.06
215Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.06
216Immunodeficiency 12EnrichmentMALT12.06
217Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD282.06
218Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP702.06
219Immunodeficiency 22EnrichmentLCK2.06
220Immunodeficiency 79EnrichmentCD42.06
221Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.06
222Sezary's diseaseEnrichmentBCL102.06
223Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.06
224Immunodeficiency 19, severe combinedEnrichmentCD3D2.06
225Cerebral cavernous malformations 5EnrichmentMAP3K32.06
226Immunodeficiency 19EnrichmentCD3D2.06
227Verrucous hemangiomaEnrichmentMAP3K32.06
228Mucosa-associated lymphomaEnrichmentBCL102.06
229Zap70-related severe combined immunodeficiencyEnrichmentZAP702.06
230Baraitser-winter syndrome 1EnrichmentACTB2.02
231Thrombocytopenia 1EnrichmentWAS2.02
232Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.02
233Bleeding disorder, platelet-type, 18EnrichmentRASGRP22.02
234Myopathy, scapulohumeroperonealEnrichmentACTA12.02
235Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.02
236Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP12.02
237Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.02
238Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.02
239Thrombocytopenia 3EnrichmentFYB12.02
240Spinocerebellar ataxia 14EnrichmentPRKCG2.02
241Lymphoproliferative syndrome 1EnrichmentITK2.02
242Becker nevus syndromeEnrichmentACTB2.02
243Dystonia-deafness syndrome 1EnrichmentACTB2.02
244Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.02
245Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.02
246Achromatopsia 7EnrichmentATF62.02
247Autosomal dominant familial visceral neuropathyEnrichmentACTG22.02
248Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD12.02
249Was-related disordersEnrichmentWAS2.02
250Congenital autosomal recessive small-platelet thrombocytopeniaEnrichmentFYB12.02
251Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.02
252Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.02
253Baraitser-winter syndromeEnrichmentACTB2.02
254Immunodeficiency 64EnrichmentRASGRP12.02
255Zebra body myopathyEnrichmentACTA12.02
256Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP12.02
257Congenital smooth muscle hamartomaEnrichmentACTB2.02
258Aplasia cutis-enamel dysplasia syndromeEnrichmentFOSL22.02
259Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.02
260Actin-accumulation myopathyEnrichmentACTA12.02
261Malignant epithelial tumor of salivary glandsEnrichmentPRKD12.02
262Myopathic intestinal pseudoobstructionEnrichmentACTG22.02
263Actg2 visceral myopathyEnrichmentACTG22.02
264Proteus syndromeEnrichmentAKT11.97
265Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.97
266Celiac disease 3EnrichmentCTLA41.97
267Type 1 diabetes mellitus 12EnrichmentCTLA41.97
268Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.97
269Cowden syndrome 6EnrichmentAKT11.97
270Immunodeficiency 105, severe combinedEnrichmentPTPRC1.97
271Cd45 deficiencyEnrichmentPTPRC1.97
272Capillary hemangiomaEnrichmentAKT31.97
273Akt2-related familial partial lipodystrophyEnrichmentAKT21.97
274Congenital stationary night blindnessEnrichmentCACNA1F, CACNA2D41.89
275Congenital myopathyEnrichmentACTA1, CACNA1S1.86
276Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, RAF11.86
277Spinocerebellar ataxia 29EnrichmentITPR11.82
278Fibromatosis, gingival, 1EnrichmentSOS11.82
279Costello syndromeEnrichmentHRAS1.82
280Timothy syndromeEnrichmentCACNA1C1.82
281Night blindness, congenital stationary, type 2aEnrichmentCACNA1F1.82
282Pulmonic stenosisEnrichmentSOS11.82
283Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.82
284Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.82
285Alternating hemiplegia of childhood 1EnrichmentCACNA1A1.82
286Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.82
287Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.82
288Long qt syndrome 14EnrichmentCALM11.82
289Long qt syndrome 8EnrichmentCACNA1C1.82
290Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.82
291Agammaglobulinemia, x-linkedEnrichmentBTK1.82
292Noonan syndrome 12EnrichmentRRAS21.82
293Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentCACNA1D1.82
294Immunodeficiency 52EnrichmentLAT1.82
295Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsEnrichmentCACNA1B1.82
296Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.82
297ArthritisEnrichmentSYK1.82
298Progressive bulbar palsyEnrichmentCACNA1A1.82
299Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.82
300Wooly hair nevusEnrichmentHRAS1.82
301Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.81
302Hemangiopericytoma, malignantEnrichmentSTAT61.81
303Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.81
304Dermatofibrosarcoma protuberansEnrichmentPDGFB1.81
305Immunodeficiency 33EnrichmentIKBKG1.81
306Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.81
307Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.81
308Thrombocythemia 3EnrichmentJAK21.81
309Immunodeficiency 31cEnrichmentSTAT11.81
310Diarrhea 8, secretory sodium, congenitalEnrichmentSLC9A31.81
311Infantile myofibromatosisEnrichmentPDGFRB1.81
312Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.81
313Immune system diseaseEnrichmentCDC421.81
314Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.81
315PolycythemiaEnrichmentJAK21.81
316Chronic eosinophilic leukemiaEnrichmentPDGFRA1.81
317Hypereosinophilic syndromeEnrichmentJAK21.81
318B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.81
319Common variable immunodeficiency 12EnrichmentNFKB11.81
320Tafro syndromeEnrichmentMAP2K21.81
321Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.81
322Centronuclear myopathyEnrichmentACTA1, CACNA1S1.78
323Creutzfeldt-jakob diseaseEnrichmentHLA-DQB11.77
324Immunodeficiency 11aEnrichmentCARD111.77
325Sarcoidosis 1EnrichmentHLA-DRB11.77
326Immunodeficiency 37EnrichmentBCL101.77
327Immunodeficiency 11b with atopic dermatitisEnrichmentCARD111.77
328B-cell expansion with nfkb and t-cell anergyEnrichmentCARD111.77
329Immunodeficiency 17EnrichmentCD3G1.77
330Neutropenia, severe congenital, x-linkedEnrichmentWAS1.72
331Wiskott-aldrich syndromeEnrichmentWAS1.72
332Aortic aneurysm, familial thoracic 2EnrichmentACTA21.72
333Deafness, autosomal dominant 20EnrichmentACTG11.72
334Smooth muscle dysfunction syndromeEnrichmentACTA21.72
335Aortic aneurysm, familial thoracic 6EnrichmentACTA21.72
336Baraitser-winter syndrome 2EnrichmentACTG11.72
337Moyamoya disease 5EnrichmentACTA21.72
338Lymphoproliferative syndromeEnrichmentITK1.72
339Intestinal obstructionEnrichmentACTG21.72
340Bladder cancerEnrichmentHRAS, KRAS1.70
341Hashimoto thyroiditisEnrichmentCTLA41.68
342Senior-loken syndrome 7EnrichmentAKT31.68
343Immunodeficiency 104, severe combinedEnrichmentPTPRC1.68
344Bardet-biedl syndrome 16EnrichmentAKT31.68
345Van der woude syndrome 1EnrichmentCACNA1E1.65
346Gillespie syndromeEnrichmentITPR11.65
347Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.65
348Nuchal bleb, familialEnrichmentSOS11.65
349Late-onset retinal degenerationEnrichmentPLA2G51.65
350Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.65
351Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.65
352Agammaglobulinemia 1EnrichmentBTK1.65
353Immunodeficiency 14EnrichmentPIK3R11.65
354SpermatocytomaEnrichmentHRAS1.65
355Thyrotoxic periodic paralysisEnrichmentCACNA1S1.65
356Hereditary episodic ataxiaEnrichmentCACNA1A1.65
357Ovarian cancerEnrichmentAKT1, KRAS, MAP3K1, RRAS21.65
358Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.65
359Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.63
360Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.63
361Polycythemia veraEnrichmentJAK21.63
362Diarrhea 3, secretory sodium, congenital, with or without other congenital anomaliesEnrichmentSLC9A31.63
363Nasopharyngeal carcinomaEnrichmentNFKBIA1.63
364Hyper ige syndromeEnrichmentSTAT31.63
365Wieacker-wolff syndromeEnrichmentRASA11.63
366Immunodeficiency 44EnrichmentSTAT21.63
367Mesothelioma, malignantEnrichmentBCL101.59
368T-cell acute lymphoblastic leukemiaEnrichmentBCL101.59
369Testicular cancerEnrichmentBCL101.59
370Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.59
371Cone-rod dystrophy 2EnrichmentATF6, CACNA1F, CACNA2D41.57
372Melanoma of soft tissueEnrichmentATF11.55
373Eye diseaseEnrichmentCACNA1F, CACNA2D41.55
374Migraine, familial hemiplegic, 1EnrichmentCACNA1A1.53
375Spinocerebellar ataxia 6EnrichmentCACNA1A1.53
376Aland island eye diseaseEnrichmentCACNA1F1.53
377Developmental and epileptic encephalopathy 2EnrichmentCACNA1A1.53
378Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C1.53
379Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.53
380Spinocerebellar ataxia 15EnrichmentITPR11.53
381Developmental and epileptic encephalopathy 42EnrichmentCACNA1A1.53
382Congenital generalized lipodystrophyEnrichmentFOS1.53
383Cerebellar atrophy with seizures and variable developmental delayEnrichmentCACNA2D21.53
384Developmental and epileptic encephalopathy 52EnrichmentCACNA1A1.53
385Lung sarcomatoid carcinomaEnrichmentKRAS1.53
386Noonan syndrome with multiple lentiginesEnrichmentRAF11.53
387Pilocytic astrocytomaEnrichmentKRAS1.53
388Epidermolytic nevusEnrichmentHRAS1.53
389Malignant hyperthermiaEnrichmentCACNA1S1.53
390Episodic ataxiaEnrichmentCACNA1A1.53
391Knobloch syndromeEnrichmentPAK21.53
392Familial or sporadic hemiplegic migraineEnrichmentCACNA1A1.53
393Gingival fibromatosisEnrichmentSOS11.53
394Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.53
395Developmental and epileptic encephalopathyEnrichmentCACNA1E, CACNA2D21.52
396Erythrocytosis, familial, 1EnrichmentJAK21.51
397Budd-chiari syndromeEnrichmentJAK21.51
398Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.51
399Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.51
400Adenosine deaminase deficiencyEnrichmentJAK31.51
401Pediatric systemic lupus erythematosusEnrichmentSTAT41.51
402Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentCTLA41.50
403Asparagine synthetase deficiencyEnrichmentCTLA41.50
404Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentCTLA41.50
405Temporal arteritisEnrichmentHLA-DRB11.47
406Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.47
407DystoniaEnrichmentCAMK2B, GNAL1.44
408Episodic ataxia, type 2EnrichmentCACNA1A1.43
409Knobloch syndrome 1EnrichmentPAK21.43
410Heart conduction diseaseEnrichmentCACNA1C1.43
411AmblyopiaEnrichmentCACNA1F1.43
412Cardiac arrestEnrichmentCACNA2D11.43
413Congenital short qt syndromeEnrichmentCACNA2D11.43
414Nemaline myopathy 2EnrichmentACTA11.43
415Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.43
416Autoimmune lymphoproliferative syndromeEnrichmentACTA21.43
417Aminoacylase 1 deficiencyEnrichmentACTB1.43
418Hereditary ataxiaEnrichmentPRKCG1.43
419Intermediate nemaline myopathyEnrichmentACTA11.43
420Capillary malformations, congenitalEnrichmentRASA11.41
421Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.41
422Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.41
423Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.41
424Myeloproliferative neoplasmEnrichmentJAK21.41
425Sleep disorderEnrichmentSLC9A61.41
426Immunodeficiency, common variable, 1EnrichmentCTLA41.38
427Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB11.37
428Hypokalemic periodic paralysis, type 1EnrichmentCACNA1S1.35
429Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.35
430Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.35
431Lung squamous cell carcinomaEnrichmentKRAS1.35
432Childhood absence epilepsyEnrichmentCACNA1H1.35
433Klippel-trenaunay-weber syndromeEnrichmentRASA11.34
434Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.34
435Hemihyperplasia, isolatedEnrichmentRHOA1.34
436Hemangioma, capillary infantileEnrichmentRASA11.34
437Basal cell carcinoma 1EnrichmentRASA11.34
438Chronic mucocutaneous candidiasisEnrichmentSTAT11.34
439Visceral myopathy 1EnrichmentACTG21.33
440Congenital myopathy 3 with rigid spineEnrichmentACTA11.33
441Coloboma of choroid and retinaEnrichmentACTG11.33
442Severe congenital nemaline myopathyEnrichmentACTA11.33
443Glaucoma, primary open angleEnrichmentCARD101.30
444Mucopolysaccharidosis, type iiiaEnrichmentCARD141.30
445Testicular germ cell tumorEnrichmentBCL101.30
446Mucopolysaccharidosis iiiEnrichmentCARD141.30
447Limited sclerodermaEnrichmentHLA-DRB11.30
448Brugada syndrome 1EnrichmentCACNA2D11.29
449Gallbladder cancerEnrichmentKRAS1.29
450Overgrowth syndromeEnrichmentPIK3R11.29
451HemimegalencephalyEnrichmentAKT31.28
452Gastrointestinal stromal tumorEnrichmentPDGFRA1.27
453Essential thrombocythemiaEnrichmentJAK21.27
454Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.27
455Common variable immunodeficiencyEnrichmentNFKB11.27
456Oligoarticular juvenile idiopathic arthritisEnrichmentSTAT41.27
457Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentSTAT41.27
458Moyamoya disease 1EnrichmentACTA21.25
459Intestinal pseudo-obstructionEnrichmentACTG21.25
460Typical nemaline myopathyEnrichmentACTA11.25
461Alternating hemiplegia of childhoodEnrichmentCACNA1A1.23
462Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.23
463Difference of sex developmentEnrichmentCACNA1A1.23
464Mosaic variegated aneuploidy syndromeEnrichmentPAK61.22
465Permanent neonatal diabetes mellitusEnrichmentSTAT31.22
466Systemic lupus erythematosusEnrichmentCTLA4, HLA-DRB11.19
467Childhood-onset nemaline myopathyEnrichmentACTA11.19
468Primary hyperaldosteronismEnrichmentCACNA1H1.18
469Myeloma, multipleEnrichmentKRAS, PIK3R21.18
470Lymphoma, non-hodgkin, familialEnrichmentBCL101.17
471Coronary heart disease 5EnrichmentIKBKG1.17
472Leukemia, acute lymphoblastic 3EnrichmentJAK21.17
473MegacolonEnrichmentAKT31.14
474Neurodegeneration with brain iron accumulationEnrichmentPLA2G61.14
475Familial colorectal cancerEnrichmentPLA2G2A1.14
476Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.14
477Complex neurodevelopmental disorderEnrichmentCACNA1C, PAK3, TIAM11.14
478Inflammatory bowel disease 1EnrichmentPRKCQ1.12
479Ciliary dyskinesia, primary, 3EnrichmentNFKB11.12
480Hereditary breast carcinomaEnrichmentAKT1, KRAS1.10
481Migraine with or without aura 1EnrichmentCACNA1A1.10
482Epilepsy, myoclonic juvenileEnrichmentCACNB41.10
483Immune deficiency diseaseEnrichmentSYK1.10
484Epilepsy, idiopathic generalizedEnrichmentCACNA1H1.10
485Specific learning disabilityEnrichmentMAPK11.10
486Meningioma, familialEnrichmentPDGFB1.08
487Cardiac conduction defectEnrichmentCACNA1C1.06
488Lip and oral cavity carcinomaEnrichmentHRAS1.06
489Congenital long qt syndromeEnrichmentITPR31.06
490MeningiomaEnrichmentPDGFB1.05
491AsthmaEnrichmentCARD111.04
49246,xy complete gonadal dysgenesisEnrichmentMAP3K11.04
493Cat eye syndromeEnrichmentACTG11.04
494Stroke, ischemicEnrichmentPRKCH1.04
495Nemaline myopathyEnrichmentACTA11.04
496AchromatopsiaEnrichmentATF61.04
497Cowden syndromeEnrichmentAKT11.04
498Aortic valve disease 1EnrichmentSOS11.03
499Protein-deficiency anemiaEnrichmentNRAS1.03
500Nk-cell enteropathyEnrichmentJAK31.01
501Lung cancer susceptibility 3EnrichmentKRAS1.00
502PolymicrogyriaEnrichmentAKT30.99
503OsteoporosisEnrichmentSRC0.98
504Cleft lip/palateEnrichmentPDGFRA0.98
505MyopiaEnrichmentCACNA1F0.97
506Anterior segment dysgenesisEnrichmentITPR10.97
507Lynch syndromeEnrichmentKRAS0.97
508HydrocephalusEnrichmentPDGFRB0.95
509MicrocephalyEnrichmentACTB, ACTG1, MAPK10.95
510Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.94
511RhabdomyosarcomaEnrichmentHRAS0.94
512Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.93
513GliosarcomaEnrichmentNFKBIA0.93
514Sudden infant death syndromeEnrichmentCALM20.92
515Dandy-walker syndromeEnrichmentPDGFRB0.90
516Giant cell glioblastomaEnrichmentNFKBIA0.90
517Heart, malformation ofEnrichmentMAPK10.90
518Congenital myopathy 4a, autosomal dominantEnrichmentACTA10.87
519Arteriovenous malformations of the brainEnrichmentKRAS0.87
520Diffuse large b-cell lymphomaEnrichmentBTK0.87
521Behcet syndromeEnrichmentSTAT40.86
522Cardiomyopathy, dilated, 1aEnrichmentNFATC20.83
523Neuromuscular diseaseEnrichmentACTA10.80
524MalariaEnrichmentIKBKG0.78
525Cone dystrophyEnrichmentCACNA2D40.78
526ScoliosisEnrichmentSLC9A60.77
527Pancreatic cancerEnrichmentKRAS0.76
528Hydrops fetalis, nonimmuneEnrichmentHRAS0.75
529Auditory neuropathyEnrichmentCACNA1A0.75
530LissencephalyEnrichmentACTG10.74
531StrabismusEnrichmentCACNA1A0.73
532Congenital nervous system abnormalityEnrichmentCACNA1A, PLA2G60.72
533Nervous system diseaseEnrichmentCACNA1A, PLA2G60.72
534Severe covid-19EnrichmentJAK30.69
535Lung cancerEnrichmentKRAS0.67
536Familial hypertrophic cardiomyopathyEnrichmentRAF10.66
537Cystic fibrosisEnrichmentSLC9A30.65
538Left ventricular noncompactionEnrichmentRAF10.63
539Connective tissue diseaseEnrichmentACTA20.58
540Gastric cancerEnrichmentKRAS0.56
541CakutEnrichmentACTG10.56
542Optic atrophy plus syndromeEnrichmentCACNA1F0.55
543Non-syndromic genetic deafnessEnrichmentACTG10.54
544Fetal akinesia deformation sequence 1EnrichmentACTA10.53
545ThrombocytopeniaEnrichmentSRC0.50
546MyopathyEnrichmentACTA10.50
547Familial isolated dilated cardiomyopathyEnrichmentRAF10.48
548Distal arthrogryposisEnrichmentACTA10.48
549Nonsyndromic hearing lossEnrichmentACTG10.48
550Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.47
551Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA20.46
552Type 2 diabetes mellitusEnrichmentAKT20.44
553Primary ovarian insufficiencyEnrichmentJAK20.43
554Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.41
555Dilated cardiomyopathyEnrichmentRAF10.34
556AutismEnrichmentCAMK2G0.33
557Retinitis pigmentosaEnrichmentCACNA1F, CACNA2D40.32
558Hereditary retinal dystrophyEnrichmentATF6, CACNA1F, CACNA2D40.28
559Fundus dystrophyEnrichmentATF6, CACNA1F, CACNA2D40.28
560Rare genetic deafnessEnrichmentACTG10.27
561Autism spectrum disorderEnrichmentMAP2K10.25
562Inherited cancer-predisposing syndromeEnrichmentPDGFRA0.19

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