Immune response NFAT in immune response

Pathway network for the Immune response NFAT in immune response SuperPath

Sources:
  • GeneGo (Thomson Reuters)

Pathways in the Immune response NFAT in immune response SuperPath

#NameSourceGenes
1Immune response NFAT in immune responseGeneGo (Thomson Reuters)
2Immune response ICOS pathway in T-helper cellGeneGo (Thomson Reuters)
3Immune response T cell receptor signaling pathwayGeneGo (Thomson Reuters)
4Immune response CD28 signalingGeneGo (Thomson Reuters)

Gene overlap in member pathways for Immune response NFAT in immune response SuperPath

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

Disorders associated with Immune response NFAT in immune response SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Severe combined immunodeficiencyEnrichmentCD247, CD3D, CD3E, CD3G, IKBKB, LCK, MALT1, PTPRC, ZAP7011.50
2Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, CD79A, CD79B, IGHM, PIK3CD, PIK3R110.44
3Noonan syndrome 1EnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS28.27
4RasopathyEnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS27.92
5Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS17.56
6T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3D, CD3E6.77
7Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK, IGH, IGHM6.41
8Agammaglobulinemia 1EnrichmentBTK, IGH, IGHM6.41
9Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.17
10Noonan syndrome 3EnrichmentHRAS, RAF1, SOS15.06
11Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM35.03
12Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR34.65
13Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.51
14Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB14.39
15Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB14.39
16Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB14.39
17Immune system diseaseEnrichmentCDC42, PIK3CD4.29
18Immunoglobulin kappa light chain deficiencyEnrichmentIGK, IGKC4.27
19Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB1, ITPR14.05
20Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.03
21Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.03
22Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.03
23Immunodeficiency 7EnrichmentTRA, TRAC4.03
24Recurrent infections associated with rare immunoglobulin isotypes deficiencyEnrichmentIGK, IGKC3.79
25Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.73
26Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K23.62
27Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K23.62
28Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB13.62
29HemimegalencephalyEnrichmentAKT3, PIK3CA3.51
30Immunodeficiency, common variable, 1EnrichmentICOS, NFKB23.51
31Lymphoma, mucosa-associated lymphoid typeEnrichmentBCL10, MALT13.40
32Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB13.40
33Follicular lymphomaEnrichmentBCL10, HLA-DRB13.40
34Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.34
35Granulomatosis with polyangiitisEnrichmentHLA-DPA1, HLA-DPB13.22
36Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.19
37Cowden syndromeEnrichmentAKT1, PIK3CA2.96
38Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF12.95
39Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB12.95
40Arteriovenous malformationEnrichmentHRAS, MAP2K12.85
41Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K12.75
42MeningiomaEnrichmentAKT1, PIK3CA2.71
43Combined immunodeficiencyEnrichmentMALT1, ZAP702.67
44Lung non-small cell carcinomaEnrichmentHRAS, MAP2K12.67
45Combined t cell and b cell immunodeficiencyEnrichmentMALT1, ZAP702.67
46Combined t and b cell immunodeficiencyEnrichmentMALT1, ZAP702.67
47Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR22.25
48MacrodactylyEnrichmentPIK3CA2.25
49Proteus syndromeEnrichmentAKT12.25
50Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.25
51Incontinentia pigmentiEnrichmentIKBKG2.25
52Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.25
53Megalencephaly, autosomal dominantEnrichmentPIK3CA2.25
54Cowden syndrome 5EnrichmentPIK3CA2.25
55Fetal encasement syndromeEnrichmentCHUK2.25
5646,xy sex reversal 6EnrichmentMAP3K12.25
57Cerebral cavernous malformations 4EnrichmentPIK3CA2.25
58Immunodeficiency 15bEnrichmentIKBKB2.25
59Immunodeficiency 81EnrichmentLCP22.25
60Immunodeficiency 15aEnrichmentIKBKB2.25
61Immunodeficiency 92EnrichmentREL2.25
62Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR32.25
63Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.25
64Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.25
65Immunodeficiency 48EnrichmentZAP702.25
66Short syndromeEnrichmentPIK3R12.25
67Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.25
68Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.25
69Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.25
70Immunodeficiency 18EnrichmentCD3E2.25
71Immunodeficiency 25EnrichmentCD2472.25
72Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.25
73Hemifacial myohyperplasiaEnrichmentPIK3CA2.25
74Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.25
75Lymphoproliferative syndrome 1EnrichmentITK2.25
76Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.25
77Long qt syndrome 16EnrichmentCALM32.25
78Cowden syndrome 6EnrichmentAKT12.25
79Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.25
80Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.25
81Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD282.25
82Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP702.25
83Immunodeficiency 22EnrichmentLCK2.25
84Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.25
85Immunodeficiency 53EnrichmentRELB2.25
86Bartsocas-papas syndrome 2EnrichmentCHUK2.25
87Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.25
88Immunodeficiency 19, severe combinedEnrichmentCD3D2.25
89Long qt syndrome 15EnrichmentCALM22.25
90HypospadiasEnrichmentPIK3CA2.25
91Capillary hemangiomaEnrichmentAKT32.25
92Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR32.25
93Rare venous malformationEnrichmentPIK3CA2.25
94Diaphragmatic eventrationEnrichmentPIK3CA2.25
95Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.25
96Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.25
97Immunodeficiency 19EnrichmentCD3D2.25
98Rare combined vascular malformationEnrichmentPIK3CA2.25
99Cavernous lymphangiomaEnrichmentPIK3CA2.25
100Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.25
101Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.25
102Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.25
103Eccrine angiomatous hamartomaEnrichmentPIK3CA2.25
104Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT52.25
105Macrodactyly of toeEnrichmentPIK3CA2.25
106Zap70-related severe combined immunodeficiencyEnrichmentZAP702.25
107Akt2-related familial partial lipodystrophyEnrichmentAKT22.25
108Noonan syndrome 5EnrichmentRAF12.19
109Noonan syndrome 4EnrichmentSOS12.19
110Melorheostosis, isolatedEnrichmentMAP2K12.19
111Cardiomyopathy, dilated, 1nnEnrichmentRAF12.19
112Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.19
113Noonan syndrome 9EnrichmentSOS22.19
114Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP12.19
115Noonan syndrome 13EnrichmentMAPK12.19
116Okt4 epitope deficiencyEnrichmentCD42.19
117Persistent polyclonal b-cell lymphocytosisEnrichmentCARD112.19
118Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB12.19
119MelorheostosisEnrichmentMAP2K12.19
120Leopard syndrome 2EnrichmentRAF12.19
121Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.19
122Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.19
123Immunodeficiency 12EnrichmentMALT12.19
124Immunodeficiency 105, severe combinedEnrichmentPTPRC2.19
125BerylliosisEnrichmentHLA-DPB12.19
126Immunodeficiency 79EnrichmentCD42.19
127Cd45 deficiencyEnrichmentPTPRC2.19
128TrigonitisEnrichmentRAF12.19
129Sezary's diseaseEnrichmentBCL102.19
130Immunodeficiency 64EnrichmentRASGRP12.19
131Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP12.19
132Phakomatosis pigmentokeratoticaEnrichmentHRAS2.19
133Mucosa-associated lymphomaEnrichmentBCL102.19
134Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.14
135Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB22.14
136Immunodeficiency 119EnrichmentICOSLG2.14
137Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB52.14
138Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB42.14
139Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.14
140Takenouchi-kosaki syndromeEnrichmentCDC422.14
141Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB12.14
142Sick sinus syndrome 4EnrichmentGNB22.14
143Nocarh syndromeEnrichmentCDC422.14
144Late-onset combined immunodeficiency due to icosl deficiencyEnrichmentICOSLG2.14
145Precursor t-cell acute lymphoblastic leukemiaEnrichmentTRA, TRB2.14
146Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A2.13
147Immunodeficiency 82 with systemic inflammationEnrichmentSYK2.13
148Isolated growth hormone deficiency type iiiEnrichmentBTK2.13
149Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.13
150Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.13
151Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.13
152ColitisEnrichmentSYK2.13
153B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)EnrichmentIGH2.13
154Agammaglobulinemia 3EnrichmentCD79A2.13
155Diffuse large b-cell lymphomaEnrichmentBTK, CD79B2.07
156Breast cancerEnrichmentAKT1, JUN, PIK3CA2.07
157Spinocerebellar ataxia 29EnrichmentITPR11.95
158Immunodeficiency 33EnrichmentIKBKG1.95
159Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.95
160Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.95
161Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.95
162Keratosis, seborrheicEnrichmentPIK3CA1.95
163Roifman-chitayat syndromeEnrichmentPIK3CD1.95
164Noonan syndrome 8EnrichmentPIK3CA1.95
165Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.95
166Immunodeficiency, common variable, 10EnrichmentNFKB21.95
167Long qt syndrome 14EnrichmentCALM11.95
168Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.95
169Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.95
170Rela fusion-positive ependymomaEnrichmentRELA1.95
171Lymphoproliferative syndromeEnrichmentITK1.95
172Senior-loken syndrome 7EnrichmentAKT31.95
173Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.95
174Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentPIP5K1A1.95
175Trypsinogen deficiencyEnrichmentTRB1.95
176Immunodeficiency 17EnrichmentCD3G1.95
177Bardet-biedl syndrome 16EnrichmentAKT31.95
178Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.95
179Immunodeficiency 52EnrichmentLAT1.95
180Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.95
181Common variable immunodeficiency 12EnrichmentNFKB11.95
182Fibromatosis, gingival, 1EnrichmentSOS11.89
183Costello syndromeEnrichmentHRAS1.89
184Pulmonic stenosisEnrichmentSOS11.89
185Creutzfeldt-jakob diseaseEnrichmentHLA-DQB11.89
186Immunodeficiency 11aEnrichmentCARD111.89
187Sarcoidosis 1EnrichmentHLA-DRB11.89
188Immunodeficiency 37EnrichmentBCL101.89
189Immunodeficiency 11b with atopic dermatitisEnrichmentCARD111.89
190B-cell expansion with nfkb and t-cell anergyEnrichmentCARD111.89
191Immunodeficiency 104, severe combinedEnrichmentPTPRC1.89
192Tafro syndromeEnrichmentMAP2K21.89
193Submucosal cleft palateEnrichmentUBB1.89
194Cleft hard palateEnrichmentUBB1.89
195Wooly hair nevusEnrichmentHRAS1.89
196Colorectal cancerEnrichmentAKT1, PIK3CA, PIK3R11.89
197Long qt syndromeEnrichmentCALM1, CALM21.89
198Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.84
199Night blindness, congenital stationary, type 1hEnrichmentGNB31.84
200Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.84
201Cerebral visual impairmentEnrichmentGNB11.84
202Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.83
203Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK1.83
204Agammaglobulinemia 6, autosomal recessiveEnrichmentCD79B1.83
205Agammaglobulinemia, x-linkedEnrichmentBTK1.83
206Agammaglobulinemia 4EnrichmentBLNK1.83
207Agammaglobulinemia 6EnrichmentCD79B1.83
208ArthritisEnrichmentSYK1.83
209Gillespie syndromeEnrichmentITPR11.78
210Pompe disease, infantile-onsetEnrichmentPIK3CA1.78
211Mycosis fungoidesEnrichmentCD281.78
212Nasopharyngeal carcinomaEnrichmentNFKBIA1.78
213KeratoacanthomaEnrichmentPIK3CA1.78
214Saczary syndromeEnrichmentCD281.78
215Ovarian cancerEnrichmentAKT1, MAP3K1, PIK3CA1.72
216Mesothelioma, malignantEnrichmentBCL101.72
217Uvula, bifidEnrichmentUBB1.72
218Nuchal bleb, familialEnrichmentSOS11.72
219Langerhans cell histiocytosisEnrichmentMAP2K11.72
220Cleft soft palateEnrichmentUBB1.72
221Large congenital melanocytic nevusEnrichmentHRAS1.72
222T-cell acute lymphoblastic leukemiaEnrichmentBCL101.72
223SpermatocytomaEnrichmentHRAS1.72
224Adult-onset myasthenia gravisEnrichmentHLA-DQA11.72
225Testicular cancerEnrichmentBCL101.72
226Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.72
227Spinocerebellar ataxia 15EnrichmentITPR11.65
228Cerebrovascular diseaseEnrichmentPIK3CA1.65
229Familial cerebral cavernous malformationsEnrichmentPIK3CA1.65
230Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.60
231Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.59
232Temporal arteritisEnrichmentHLA-DRB11.59
233Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.59
234Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.59
235Congenital generalized lipodystrophyEnrichmentFOS1.59
236Noonan syndrome with multiple lentiginesEnrichmentRAF11.59
237Epidermolytic nevusEnrichmentHRAS1.59
238Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.59
239Gingival fibromatosisEnrichmentSOS11.59
240Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.59
241Capillary malformations, congenitalEnrichmentPIK3CA1.56
242Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.56
243Vitamin d-dependent rickets, type 2aEnrichmentTRB1.56
244Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.54
245Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.54
246Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.54
247Familial sick sinus syndromeEnrichmentGNB21.54
248Mantle cell lymphomaEnrichmentIGH1.54
249Histiocytoid hemangiomaEnrichmentFOS1.50
250Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB11.50
251Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.48
252Cowden syndrome 1EnrichmentPIK3CA1.48
253Hemihyperplasia, isolatedEnrichmentPIK3CA1.48
254Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.48
255Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR11.48
256Lung squamous cell carcinomaEnrichmentPIK3CA1.48
257Testicular germ cell tumorEnrichmentBCL101.42
258Limited sclerodermaEnrichmentHLA-DRB11.42
259Nevus, epidermalEnrichmentPIK3CA1.41
260Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.41
261Gallbladder cancerEnrichmentPIK3CA1.41
262MegacolonEnrichmentAKT31.41
263Oligoarticular juvenile idiopathic arthritisEnrichmentCD2471.41
264Overgrowth syndromeEnrichmentPIK3R11.41
265Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2471.41
266Lennox-gastaut syndromeEnrichmentMAPK101.36
267Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.36
268Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.36
269Pilomyxoid astrocytomaEnrichmentRAF11.36
270Follicular thyroid carcinomaEnrichmentHRAS1.36
271Inflammatory bowel disease 1EnrichmentPRKCQ1.31
272Coronary heart disease 5EnrichmentIKBKG1.31
273Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.31
274Adult hepatocellular carcinomaEnrichmentPIK3CA1.31
275Lymphoma, non-hodgkin, familialEnrichmentBCL101.30
276Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, PPP3CA1.30
277Ciliary dyskinesia, primary, 3EnrichmentNFKB11.26
278PolymicrogyriaEnrichmentAKT31.26
279HypothyroidismEnrichmentGNB11.25
28046,xy complete gonadal dysgenesisEnrichmentMAP3K11.22
281Lip and oral cavity carcinomaEnrichmentPIK3CA1.19
282Congenital long qt syndromeEnrichmentITPR31.19
283AsthmaEnrichmentCARD111.17
284Specific learning disabilityEnrichmentMAPK11.17
285Nk-cell enteropathyEnrichmentPIK3CB1.15
286Hereditary chronic pancreatitisEnrichmentTRB1.12
28746,xy partial gonadal dysgenesisEnrichmentMAP3K11.12
288Leukemia, acute lymphoblasticEnrichmentGNB11.12
289Myelodysplastic syndromeEnrichmentGNB11.12
290Immune deficiency diseaseEnrichmentSYK1.11
291Aortic valve disease 1EnrichmentSOS11.10
292Anterior segment dysgenesisEnrichmentITPR11.09
293Lynch syndromeEnrichmentPIK3CA1.09
294GliosarcomaEnrichmentNFKBIA1.07
295Pancreatitis, hereditaryEnrichmentTRB1.04
296Sudden infant death syndromeEnrichmentCALM21.04
297Giant cell glioblastomaEnrichmentNFKBIA1.04
298RhabdomyosarcomaEnrichmentHRAS1.01
299Heart, malformation ofEnrichmentMAPK10.96
300Cardiomyopathy, dilated, 1aEnrichmentNFATC20.95
301Endometrial cancerEnrichmentPIK3CA0.95
302Hypertension, essentialEnrichmentGNB30.94
303Cleft palate, isolatedEnrichmentGNB10.94
304Hepatocellular carcinomaEnrichmentPIK3CA0.93
305MalariaEnrichmentIKBKG0.92
306Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.84
307Attention deficit-hyperactivity disorderEnrichmentGNB50.83
308Bladder cancerEnrichmentPIK3CA0.82
309Prostate cancerEnrichmentPIK3CA0.82
310Congenital stationary night blindnessEnrichmentGNB30.81
311Hydrops fetalis, nonimmuneEnrichmentHRAS0.81
312Lung cancerEnrichmentPIK3CA0.78
313Severe covid-19EnrichmentHLA-DQB10.77
314Differentiated thyroid carcinomaEnrichmentHRAS0.77
315StrabismusEnrichmentGNB10.75
316Non-immune hydrops fetalisEnrichmentHRAS0.74
317Familial hypertrophic cardiomyopathyEnrichmentRAF10.72
318Left ventricular noncompactionEnrichmentRAF10.69
319Type 2 diabetes mellitusEnrichmentAKT20.68
320Gastric cancerEnrichmentPIK3CA0.67
321Systemic lupus erythematosusEnrichmentHLA-DRB10.65
322DystoniaEnrichmentGNB10.65
323Cerebral palsyEnrichmentGNB10.61
324HypertelorismEnrichmentPIK3CA0.60
325Spastic ataxiaEnrichmentITPR10.59
326Myeloma, multipleEnrichmentPIK3R20.57
327Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA0.57
328Familial isolated dilated cardiomyopathyEnrichmentRAF10.54
329Dilated cardiomyopathyEnrichmentRAF10.39
330Autism spectrum disorderEnrichmentMAP2K10.30
331Congenital nervous system abnormalityEnrichmentGNB50.27
332Nervous system diseaseEnrichmentGNB50.27
333MicrocephalyEnrichmentMAPK10.26
334Complex neurodevelopmental disorderEnrichmentGNB20.23

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