T-cell activation SARS-CoV-2

No Pathway Network information available for T-cell activation SARS-CoV-2

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

Disorders associated with T-cell activation SARS-CoV-2 SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, IKBKB, LCK, MALT1, PTPRC, ZAP7010.58
2Noonan syndrome 1EnrichmentCBL, MAP2K1, MAP2K2, RAF1, RRAS, SOS19.12
3Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC28.75
4Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC28.75
5Noonan syndrome and noonan-related syndromeEnrichmentCBL, MAP2K1, MAP2K2, RAF1, SOS18.27
6Bladder cancerEnrichmentCDKN1A, CDKN2A, HRAS, PTEN, TP53, TSC17.55
7RasopathyEnrichmentCBL, MAP2K1, MAP2K2, RAF1, SOS16.95
8Tuberous sclerosis 1EnrichmentIFNG, TSC1, TSC26.56
9T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E6.56
10HemimegalencephalyEnrichmentMTOR, PTEN, RHEB5.57
11Noonan syndrome 3EnrichmentHRAS, RAF1, SOS15.03
12Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.67
13Colorectal cancerEnrichmentAKT1, BAX, BCL10, CCND1, PIK3R1, TP534.65
14Adult hepatocellular carcinomaEnrichmentTP53, TSC1, TSC24.65
15Systemic lupus erythematosusEnrichmentCTLA4, IL10, PDCD1, TNF4.51
16LymphangioleiomyomatosisEnrichmentTSC1, TSC24.37
17Lip and oral cavity carcinomaEnrichmentCDKN2A, HRAS, TP534.24
18Mycosis fungoidesEnrichmentCD28, CTLA44.20
19Saczary syndromeEnrichmentCD28, CTLA44.20
20Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K23.90
21Immunodeficiency, common variable, 1EnrichmentCTLA4, ICOS3.90
22Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K23.90
23Psoriatic arthritisEnrichmentLTA, TNF3.90
24Nasopharyngeal carcinomaEnrichmentNFKBIA, TP533.90
25Tuberous sclerosis 2EnrichmentIFNG, TSC23.90
26Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.90
27HamartomaEnrichmentTSC1, TSC23.90
28Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.90
29T-cell acute lymphoblastic leukemiaEnrichmentBAX, BCL103.90
30Breast cancerEnrichmentAKT1, IL2, JUN, PTEN, TP533.88
31RhabdomyosarcomaEnrichmentHRAS, PTEN, TP533.84
32Lymphoma, mucosa-associated lymphoid typeEnrichmentBCL10, MALT13.68
33Behcet syndromeEnrichmentIL12A, IL23R, STAT43.61
34Diffuse large b-cell lymphomaEnrichmentMYD88, PTEN, TP533.61
35Tuberous sclerosisEnrichmentTSC1, TSC23.60
36Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.50
37Follicular lymphomaEnrichmentBCL10, HLA-DRB13.38
38Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.38
39Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA3.36
40Common variable immunodeficiencyEnrichmentCD40LG, NFKB13.36
41Ovarian cancerEnrichmentAKT1, CDKN2A, PTEN, TP53, TSC23.28
42Li-fraumeni syndromeEnrichmentCDKN2A, TP533.20
43Adrenocortical carcinomaEnrichmentCDKN2A, TP533.20
44Arteriovenous malformationEnrichmentMAP2K1, PIK3CA3.13
45Cowden syndromeEnrichmentAKT1, PIK3CA3.13
46Thyroid cancer, nonmedullary, 2EnrichmentHRAS, PTEN3.06
47Squamous cell carcinoma, head and neckEnrichmentPTEN, TP533.06
48Essential thrombocythemiaEnrichmentJAK2, TP533.06
49Follicular thyroid carcinomaEnrichmentHRAS, PTEN3.06
50Oligoarticular juvenile idiopathic arthritisEnrichmentCD247, STAT43.06
51Overgrowth syndromeEnrichmentMTOR, PIK3R13.06
52Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD247, STAT43.06
53B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP533.06
54Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K1, PIK3CA3.03
55AsthmaEnrichmentCARD11, TNF2.94
56Combined immunodeficiencyEnrichmentMALT1, ZAP702.94
57Lung non-small cell carcinomaEnrichmentMAP2K1, PIK3CA2.94
58Combined t cell and b cell immunodeficiencyEnrichmentMALT1, ZAP702.94
59Combined t and b cell immunodeficiencyEnrichmentMALT1, ZAP702.94
60Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF12.93
61Lymphoma, non-hodgkin, familialEnrichmentBCL10, TP532.93
62Juvenile myelomonocytic leukemiaEnrichmentCBL, RRAS2.87
63MeningiomaEnrichmentAKT1, PIK3CA2.87
64Primary biliary cholangitisEnrichmentIL12A, IL12RB12.83
65Inherited cancer-predisposing syndromeEnrichmentCDKN2A, PTEN, TP53, TSC1, TSC22.76
66Leukemia, chronic lymphocyticEnrichmentCCND1, TP532.73
67MelanomaEnrichmentCDKN2A, PTEN2.73
68Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.73
69Gastric cancerEnrichmentCDKN2A, PTEN, TP532.55
70Hereditary breast carcinomaEnrichmentAKT1, PTEN, TP532.53
71Human immunodeficiency virus type 1EnrichmentIFNG, IL102.51
72Multiple sclerosisEnrichmentHLA-DRB1, ITPR12.43
73MacrodactylyEnrichmentPIK3CA2.33
74Proteus syndromeEnrichmentAKT12.33
75Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.33
76Incontinentia pigmentiEnrichmentIKBKG2.33
77Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.33
78Noonan syndrome 5EnrichmentRAF12.33
79Noonan syndrome 4EnrichmentSOS12.33
80Melanoma, cutaneous malignant 3EnrichmentCDK42.33
81Celiac disease 3EnrichmentCTLA42.33
82Melorheostosis, isolatedEnrichmentMAP2K12.33
83Megalencephaly, autosomal dominantEnrichmentPIK3CA2.33
84Cardiomyopathy, dilated, 1nnEnrichmentRAF12.33
85Cowden syndrome 5EnrichmentPIK3CA2.33
86Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.33
87Muscular dystrophy-dystroglycanopathy , type a, 9EnrichmentDAG12.33
88Fetal encasement syndromeEnrichmentCHUK2.33
89Immunodeficiency 116EnrichmentCD8A2.33
90Frontometaphyseal dysplasia 2EnrichmentMAP3K72.33
91Cerebral cavernous malformations 4EnrichmentPIK3CA2.33
92Immunodeficiency 15bEnrichmentIKBKB2.33
93Immunodeficiency 69EnrichmentIFNG2.33
94Immunodeficiency 81EnrichmentLCP22.33
95Immunodeficiency 15aEnrichmentIKBKB2.33
96Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG2.33
97Immunodeficiency 48EnrichmentZAP702.33
98Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.33
99Autoimmune disease, multisystem, infantile-onset, 4EnrichmentPDCD12.33
100Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.33
101Okt4 epitope deficiencyEnrichmentCD42.33
102Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.33
103Graft-versus-host diseaseEnrichmentIL102.33
104Type 1 diabetes mellitus 12EnrichmentCTLA42.33
105Persistent polyclonal b-cell lymphocytosisEnrichmentCARD112.33
106Hemifacial myohyperplasiaEnrichmentPIK3CA2.33
107Systemic lupus erythematosus 2EnrichmentPDCD12.33
108Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.33
109Lymphoproliferative syndrome 1EnrichmentITK2.33
110MelorheostosisEnrichmentMAP2K12.33
111Leopard syndrome 2EnrichmentRAF12.33
112Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.33
113Cowden syndrome 6EnrichmentAKT12.33
114Immunodeficiency 12EnrichmentMALT12.33
115Muscular dystrophy-dystroglycanopathy , type c, 9EnrichmentDAG12.33
116Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD282.33
117Immunodeficiency 105, severe combinedEnrichmentPTPRC2.33
118Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP702.33
119Immunodeficiency 22EnrichmentLCK2.33
120Bartsocas-papas syndrome 2EnrichmentCHUK2.33
121Spastic ataxia 9, autosomal recessiveEnrichmentCHP12.33
122Immunodeficiency 79EnrichmentCD42.33
123Cd45 deficiencyEnrichmentPTPRC2.33
124TrigonitisEnrichmentRAF12.33
125Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.33
126Sezary's diseaseEnrichmentBCL102.33
127Immunodeficiency 19, severe combinedEnrichmentCD3D2.33
128HypospadiasEnrichmentPIK3CA2.33
129Immunodeficiency 112EnrichmentMAP3K142.33
130Rare venous malformationEnrichmentPIK3CA2.33
131Vegetative pyoderma gangrenosumEnrichmentPTPN62.33
132Bullous pyoderma gangrenosumEnrichmentPTPN62.33
133Cd40 ligand deficiencyEnrichmentCD40LG2.33
134Diaphragmatic eventrationEnrichmentPIK3CA2.33
135Pustular pyoderma gangrenosumEnrichmentPTPN62.33
136Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.33
137Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.33
138Immunodeficiency 19EnrichmentCD3D2.33
139Rare combined vascular malformationEnrichmentPIK3CA2.33
140Cavernous lymphangiomaEnrichmentPIK3CA2.33
141Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.33
142Muscle-eye-brain disease with bilateral multicystic leucodystrophyEnrichmentDAG12.33
143Classic pyoderma gangrenosumEnrichmentPTPN62.33
144Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.33
145Mucosa-associated lymphomaEnrichmentBCL102.33
146Eccrine angiomatous hamartomaEnrichmentPIK3CA2.33
147Macrodactyly of toeEnrichmentPIK3CA2.33
148Nik deficiencyEnrichmentMAP3K142.33
149Zap70-related severe combined immunodeficiencyEnrichmentZAP702.33
150GliosarcomaEnrichmentNFKBIA, TP532.32
151MalariaEnrichmentIKBKG, TNF2.30
152Giant cell glioblastomaEnrichmentNFKBIA, TP532.27
153Autism spectrum disorderEnrichmentIRF2BPL, MAP2K1, PTEN, TSC22.24
154Vacterl association with hydrocephalusEnrichmentPTEN2.18
155Immunodeficiency 35EnrichmentTYK22.18
156Immunodeficiency 68EnrichmentMYD882.18
157Leprosy 4EnrichmentLTA2.18
158Macroglobulinemia, waldenstrom 1EnrichmentMYD882.18
159Immunodeficiency 30EnrichmentIL12RB12.18
160Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP12.18
161Noonan syndrome 13EnrichmentMAPK12.18
162Immunodeficiency 106 viral infectionsEnrichmentIFNAR12.18
163Disabling pansclerotic morphea of childhoodEnrichmentSTAT42.18
164Short syndromeEnrichmentPIK3R12.18
165Bone marrow failure syndrome 5EnrichmentTP532.18
166Papilloma of choroid plexusEnrichmentTP532.18
167Basal cell carcinoma 7EnrichmentTP532.18
168Anaplastic thyroid carcinomaEnrichmentTP532.18
169Immunodeficiency 18EnrichmentCD3E2.18
170Systemic lupus erythematosus 11EnrichmentSTAT42.18
171Papillary tumor of the pineal regionEnrichmentPTEN2.18
172Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB12.18
173Immunodeficiency 25EnrichmentCD2472.18
174Psoriasis 7EnrichmentIL23R2.18
175Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.18
176Immunodeficiency 29EnrichmentIL12B2.18
177Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.18
178Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.18
179Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.18
180Inflammatory bowel disease 17EnrichmentIL23R2.18
181Glioma susceptibility 2EnrichmentPTEN2.18
182Ductal carcinoma in situEnrichmentTP532.18
183Thyroid gland undifferentiated carcinomaEnrichmentTP532.18
184Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.18
185Cdkn2a cancer predispositionEnrichmentCDKN2A2.18
186Irf2bpl-related disorderEnrichmentIRF2BPL2.18
187Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.18
188Choroid plexus cancerEnrichmentTP532.18
189Immunodeficiency 64EnrichmentRASGRP12.18
190Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP12.18
191Waldenstram macroglobulinemiaEnrichmentMYD882.18
192Pleomorphic xanthoastrocytomaEnrichmentTP532.18
193Phakomatosis pigmentokeratoticaEnrichmentHRAS2.18
194Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.18
195Multisystem inflammatory syndrome in childrenEnrichmentIFNAR2, IFNB12.04
196Hashimoto thyroiditisEnrichmentCTLA42.03
197Fibromatosis, gingival, 1EnrichmentSOS12.03
198Ovarian germ cell cancerEnrichmentCBL2.03
199Immunodeficiency 33EnrichmentIKBKG2.03
200Pulmonic stenosisEnrichmentSOS12.03
201Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.03
202Keratosis, seborrheicEnrichmentPIK3CA2.03
203Immunodeficiency 11aEnrichmentCARD112.03
204Immunodeficiency 37EnrichmentBCL102.03
205Noonan syndrome 8EnrichmentPIK3CA2.03
206Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.03
207Immunodeficiency 11b with atopic dermatitisEnrichmentCARD112.03
208Immunodeficiency 127EnrichmentTNF2.03
209Lymphoproliferative syndromeEnrichmentITK2.03
210Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.03
211B-cell expansion with nfkb and t-cell anergyEnrichmentCARD112.03
212Immunodeficiency 104, severe combinedEnrichmentPTPRC2.03
213Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.03
214Immunodeficiency 52EnrichmentLAT2.03
215Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC22.03
216Malignant germ cell tumor of ovaryEnrichmentCBL2.03
217Common variable immunodeficiency 12EnrichmentNFKB12.03
218Tafro syndromeEnrichmentMAP2K22.03
219Lung cancerEnrichmentMAP3K8, PIK3CA2.02
220Pancreatic cancerEnrichmentCDKN2A, TP531.94
221Spinocerebellar ataxia 29EnrichmentITPR11.88
222Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.88
223Adrenocortical carcinoma, hereditaryEnrichmentTP531.88
224Costello syndromeEnrichmentHRAS1.88
225Cervical cancerEnrichmentTP531.88
226Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.88
227Roifman-chitayat syndromeEnrichmentPIK3CD1.88
228Immunodeficiency 45EnrichmentIFNAR21.88
229Sarcoidosis 1EnrichmentHLA-DRB11.88
230Lymphoma, hodgkin, classicEnrichmentTP531.88
231Thrombocythemia 3EnrichmentJAK21.88
232Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizuresEnrichmentIRF2BPL1.88
233Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.88
234Cebalid syndromeEnrichmentMTOR1.88
235Rela fusion-positive ependymomaEnrichmentRELA1.88
236Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.88
237Congenital fibrosarcomaEnrichmentTP531.88
238Li-fraumeni syndrome 1EnrichmentTP531.88
239SarcomaEnrichmentTP531.88
240Immunodeficiency 17EnrichmentCD3G1.88
241Bullous pemphigoidEnrichmentHLA-DRB11.88
242Cervix carcinomaEnrichmentTP531.88
243Immune system diseaseEnrichmentPIK3CD1.88
244Hodgkin's lymphomaEnrichmentTP531.88
245Smith-kingsmore syndromeEnrichmentMTOR1.88
246PolycythemiaEnrichmentJAK21.88
247Lymphomatoid papulosisEnrichmentTYK21.88
248Pediatric multiple sclerosisEnrichmentHLA-DRB11.88
249Vacterl with hydrocephalusEnrichmentPTEN1.88
250Hypereosinophilic syndromeEnrichmentJAK21.88
251Transient predisposition to invasive pyogenic bacterial infectionEnrichmentMYD881.88
252Juvenile polyposis of infancyEnrichmentPTEN1.88
253Pleomorphic rhabdomyosarcomaEnrichmentTP531.88
254Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK21.88
255Wooly hair nevusEnrichmentHRAS1.88
256Mesothelioma, malignantEnrichmentBCL101.86
257Pompe disease, infantile-onsetEnrichmentPIK3CA1.86
258Nuchal bleb, familialEnrichmentSOS11.86
259Langerhans cell histiocytosisEnrichmentMAP2K11.86
260Hepatitis c virusEnrichmentIFNG1.86
261Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA1.86
262Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.86
263Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentCTLA41.86
264Dedifferentiated liposarcomaEnrichmentCDK41.86
265Asparagine synthetase deficiencyEnrichmentCTLA41.86
266Frontometaphyseal dysplasiaEnrichmentMAP3K71.86
267Migraine without auraEnrichmentTNF1.86
268Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentCTLA41.86
269Adult-onset myasthenia gravisEnrichmentCTLA41.86
270Well-differentiated liposarcomaEnrichmentCDK41.86
271Testicular cancerEnrichmentBCL101.86
272KeratoacanthomaEnrichmentPIK3CA1.86
273Prostate cancerEnrichmentPTEN, TP531.81
274Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.73
275Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.73
276Congenital generalized lipodystrophyEnrichmentFOS1.73
277Cerebrovascular diseaseEnrichmentPIK3CA1.73
278Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL1.73
279Noonan syndrome with multiple lentiginesEnrichmentRAF11.73
280Familial cerebral cavernous malformationsEnrichmentPIK3CA1.73
281Cerebral malariaEnrichmentTNF1.73
282Gingival fibromatosisEnrichmentSOS11.73
283Gillespie syndromeEnrichmentITPR11.71
284Takayasu arteritisEnrichmentIL12B1.71
285Polycythemia veraEnrichmentJAK21.71
286Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.71
287Osteogenic sarcomaEnrichmentTP531.71
288Large congenital melanocytic nevusEnrichmentHRAS1.71
289Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK21.71
290Atypical teratoid rhabdoid tumorEnrichmentTP531.71
291Anaplastic astrocytomaEnrichmentTP531.71
292Xanthinuria, type iiEnrichmentTSC21.71
293Squamous cell carcinomaEnrichmentTP531.71
294AdenocarcinomaEnrichmentTP531.71
295Immunodeficiency 44EnrichmentIFNAR21.71
296Laryngeal squamous cell carcinomaEnrichmentPTEN1.71
297Bone osteosarcomaEnrichmentTP531.71
298SpermatocytomaEnrichmentHRAS1.71
299Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.71
300Capillary malformations, congenitalEnrichmentPIK3CA1.64
301Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.64
302Myeloproliferative neoplasmEnrichmentCBL1.64
303Histiocytoid hemangiomaEnrichmentFOS1.64
304Vascular dementiaEnrichmentTNF1.64
305Aggressive systemic mastocytosisEnrichmentCBL1.64
306Idiopathic aplastic anemiaEnrichmentIFNG1.64
307Erythrocytosis, familial, 1EnrichmentJAK21.59
308Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.59
309Small cell cancer of the lungEnrichmentTP531.59
310Temporal arteritisEnrichmentHLA-DRB11.59
311Thyroid cancer, nonmedullary, 1EnrichmentTP531.59
312Budd-chiari syndromeEnrichmentJAK21.59
313Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.59
314Spinocerebellar ataxia 15EnrichmentITPR11.59
315Mantle cell lymphomaEnrichmentCCND11.59
316Lung sarcomatoid carcinomaEnrichmentTP531.59
317Hepatitis bEnrichmentIFNAR21.59
318Embryonal rhabdomyosarcomaEnrichmentTP531.59
319Epidermolytic nevusEnrichmentHRAS1.59
320Pediatric systemic lupus erythematosusEnrichmentSTAT41.59
321Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.59
322GliomaEnrichmentPTEN1.59
323Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.56
324Cowden syndrome 1EnrichmentPIK3CA1.56
325Hemihyperplasia, isolatedEnrichmentPIK3CA1.56
326Testicular germ cell tumorEnrichmentBCL101.56
327Granulomatosis with polyangiitisEnrichmentCTLA41.56
328Il10-related early-onset inflammatory bowel diseaseEnrichmentIL101.56
329Lung squamous cell carcinomaEnrichmentPIK3CA1.56
330Leukemia, acute myeloidEnrichmentJAK2, TP531.55
331Nevus, epidermalEnrichmentPIK3CA1.49
332Gallbladder cancerEnrichmentPIK3CA1.49
333Pilomyxoid astrocytomaEnrichmentRAF11.49
334Von hippel-lindau syndromeEnrichmentCCND11.49
335Rhabdomyosarcoma 2EnrichmentTP531.49
336Macrocephaly/autism syndromeEnrichmentPTEN1.49
337Narcolepsy 2EnrichmentHLA-DRB11.49
338LymphomaEnrichmentTP531.49
339HemangiomaEnrichmentPTEN1.49
340Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB11.49
341Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.41
342KeratoconusEnrichmentTSC11.41
343Limited sclerodermaEnrichmentHLA-DRB11.41
344Rheumatoid arthritisEnrichmentIL101.39
345Inflammatory bowel disease 1EnrichmentPRKCQ1.39
346Coronary heart disease 5EnrichmentIKBKG1.39
347Esophageal cancerEnrichmentTP531.35
348Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.35
349Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.35
350MyelofibrosisEnrichmentJAK21.35
351Renal cell carcinoma, papillary, 1EnrichmentMTOR1.35
352Polycystic kidney disease 1EnrichmentTSC21.35
353Ciliary dyskinesia, primary, 3EnrichmentNFKB11.34
354Aplastic anemiaEnrichmentIFNG1.34
355Hereditary breast ovarian cancer syndromeEnrichmentPTEN, TP531.30
356Glioma susceptibility 1EnrichmentTP531.29
357Narcolepsy 1EnrichmentHLA-DRB11.29
358Myeloma, multipleEnrichmentCCND1, TP531.28
359Primary ovarian insufficiencyEnrichmentJAK2, RICTOR1.24
360Leukemia, acute lymphoblastic 3EnrichmentJAK21.24
361Primary hyperaldosteronismEnrichmentTP531.24
362Aortic valve disease 1EnrichmentSOS11.23
363Alzheimer's diseaseEnrichmentTNF1.23
364Walker-warburg syndromeEnrichmentDAG11.20
365Cleft lip/palateEnrichmentDLG11.20
36646,xy partial gonadal dysgenesisEnrichmentSOS11.20
367Familial colorectal cancerEnrichmentTP531.20
368Lynch syndromeEnrichmentPIK3CA1.17
369Meningioma, familialEnrichmentPTEN1.16
370Leukemia, acute lymphoblasticEnrichmentCDKN2A1.16
371Myelodysplastic syndromeEnrichmentTP531.16
372Uterine corpus cancerEnrichmentPTEN1.16
373Specific learning disabilityEnrichmentMAPK11.16
374Creatine phosphokinase, elevated serumEnrichmentDAG11.14
375Isolated elevated serum creatine phosphokinase levelsEnrichmentDAG11.14
376Melanoma, cutaneous malignant 1EnrichmentCDK41.12
377Lung cancer susceptibility 3EnrichmentTP531.06
378Cardiomyopathy, dilated, 1aEnrichmentNFATC21.03
379Endometrial cancerEnrichmentPIK3CA1.03
380Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.03
381Anterior segment dysgenesisEnrichmentITPR11.03
382Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.03
383Kidney diseaseEnrichmentTSC11.03
384Rare genetic intellectual disabilityEnrichmentMTOR1.03
385Hepatocellular carcinomaEnrichmentPIK3CA1.01
386Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.98
387Heart, malformation ofEnrichmentMAPK10.95
388HepatoblastomaEnrichmentTP530.89
389Myocardial infarctionEnrichmentLTA0.87
390Diamond-blackfan anemia 1EnrichmentTP530.85
391Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A0.85
392Familial hypertrophic cardiomyopathyEnrichmentRAF10.85
393Left ventricular noncompactionEnrichmentRAF10.82
394Congenital nervous system abnormalityEnrichmentPTEN, TSC20.81
395Nervous system diseaseEnrichmentPTEN, TSC20.81
396Hydrops fetalis, nonimmuneEnrichmentHRAS0.80
397Differentiated thyroid carcinomaEnrichmentHRAS0.76
398Non-immune hydrops fetalisEnrichmentHRAS0.73
399Diamond-blackfan anemiaEnrichmentTP530.68
400HypertelorismEnrichmentPIK3CA0.67
401Familial isolated dilated cardiomyopathyEnrichmentRAF10.66
402West syndromeEnrichmentTSC20.60
403Spastic ataxiaEnrichmentITPR10.53
404Dilated cardiomyopathyEnrichmentRAF10.51
405MicrocephalyEnrichmentMAPK10.25

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