NF-kappaB Signaling

No Pathway Network information available for NF-kappaB Signaling

Pathways in the NF-kappaB Signaling SuperPath

#NameSourceGenes
1NF-kappaB SignalingCell Signaling Technology
(see all 327) (see less)

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

Disorders associated with NF-kappaB Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Systemic lupus erythematosusEnrichmentBLK, CTLA4, IL10, IRAK1, IRF5, PDCD1, PTPN22, SOCS1, STAT4, TLR7, TNF, TNFAIP3, TNFSF4, TNIP111.34
2Severe combined immunodeficiencyEnrichmentCD3E, DCLRE1C, IKBKB, JAK3, LCK, MALT1, PTPRC, RAG1, ZAP707.24
3Human immunodeficiency virus type 1EnrichmentCCL2, CCL5, CCR2, CXCL12, IFNG, IL10, TLR36.95
4Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, PTPN2, PTPN22, STAT46.80
5Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, PTPN2, PTPN22, STAT46.80
6Herpes simplex virus encephalitisEnrichmentTBK1, TICAM1, TLR3, TRAF35.79
7Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA, KIT, RUNX1, RUNX1T15.79
8Multisystem inflammatory syndrome in childrenEnrichmentIFIH1, IRAK3, IRF3, TLR3, TLR6, TRAF35.00
9Mycosis fungoidesEnrichmentCD28, CTLA4, TNFRSF1B4.86
10Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT34.86
11Saczary syndromeEnrichmentCD28, CTLA4, TNFRSF1B4.86
12Rheumatoid arthritisEnrichmentCIITA, IL10, IRF5, TLR14.42
13Immunodeficiency, common variable, 1EnrichmentCTLA4, ICOS, NFKB24.26
14Immunodeficiency by defective expression of mhc class iEnrichmentB2M, TAP1, TAP24.26
15Autosomal non-syndromic agammaglobulinemiaEnrichmentBLNK, CD79A, SPI1, TCF34.21
16Testicular germ cell tumorEnrichmentBCL10, KIT, KITLG3.58
17Common variable immunodeficiencyEnrichmentCD40LG, NFKB1, NFKB23.34
18Storage pool platelet diseaseEnrichmentGFI1B, RUNX13.24
19Immunodeficiency 33EnrichmentIKBKG, IRAK43.24
20Acute basophilic leukemiaEnrichmentGATA1, MYB3.24
21Lymphoproliferative syndromeEnrichmentITK, SH2D1A3.24
22Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.24
23B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentPBX1, TCF33.24
24Singleton-merten syndromeEnrichmentIFIH1, RIGI3.24
25Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD883.24
26Behcet syndromeEnrichmentFAS, IL10, STAT4, TNFRSF1A3.02
27Diffuse large b-cell lymphomaEnrichmentBTK, MYD88, SOCS1, STAT33.02
28ThrombocytopeniaEnrichmentFLI1, GATA1, GFI1B, MECOM, MPL, RUNX13.01
29Primary biliary cholangitisEnrichmentIRF5, SPIB, TNFSF152.98
30Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG, TLR82.77
31Adult-onset myasthenia gravisEnrichmentCTLA4, TNFRSF11A2.77
32Vogt-koyanagi-harada diseaseEnrichmentFAS, PTPN222.77
33Immune deficiency diseaseEnrichmentIKZF1, RIPK1, SYK2.70
34AsthmaEnrichmentALOX5, CARD11, TNF2.70
35Combined immunodeficiencyEnrichmentBCL11B, MALT1, ZAP702.70
36Combined t cell and b cell immunodeficiencyEnrichmentBCL11B, MALT1, ZAP702.70
37Combined t and b cell immunodeficiencyEnrichmentBCL11B, MALT1, ZAP702.70
38Autoinflammatory diseaseEnrichmentIL1RN, PSMB8, SH2D1A, TNFRSF1A2.62
39Leukemia, acute myeloidEnrichmentCEBPA, GATA2, JAK2, KIT, RUNX12.59
40Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B, ZBTB162.48
41Anemia, autoimmune hemolyticEnrichmentSOCS1, TLR82.47
42Autoimmune lymphoproliferative syndromeEnrichmentFAS, FASLG2.47
43Mhc class i deficiency 1EnrichmentTAP1, TAP22.47
44Mhc class i deficiencyEnrichmentTAP1, TAP22.47
45Pediatric systemic lupus erythematosusEnrichmentIRAK1, STAT42.47
46Lymphoma, mucosa-associated lymphoid typeEnrichmentBCL10, MALT12.26
47Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK3, RAG12.26
48Follicular lymphomaEnrichmentBCL10, BCL62.26
49Myeloproliferative neoplasmEnrichmentCBL, JAK22.26
50Aggressive systemic mastocytosisEnrichmentCBL, RUNX12.26
51Granulomatosis with polyangiitisEnrichmentCTLA4, PTPN222.09
52Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, RIPK12.09
53MyelofibrosisEnrichmentJAK2, MPL1.95
54Essential thrombocythemiaEnrichmentJAK2, MPL1.95
55Lymphoma, non-hodgkin, familialEnrichmentB2M, BCL101.83
56MalariaEnrichmentCISH, IKBKG, TNF1.76
57Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYB, TAL1, ZBTB161.76
58Leukemia, acute lymphoblastic 3EnrichmentJAK2, PAX51.73
59Chronic granulomatous diseaseEnrichmentNCF1, NCF41.73
60Hydrops fetalisEnrichmentFOXP3, L1CAM1.73
61Omenn syndromeEnrichmentDCLRE1C, RAG11.64
62Ciliary dyskinesia, primary, 3EnrichmentBACH2, NFKB11.64
63Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.62
64Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.62
65Leprosy 3EnrichmentTLR21.62
66Calcification of joints and arteriesEnrichmentNT5E1.62
67Immunodeficiency 103 fungal infectionsEnrichmentCARD91.62
68Chand syndromeEnrichmentRIPK41.62
69Hydrocephalus due to congenital stenosis of aqueduct of sylviusEnrichmentL1CAM1.62
70Charcot-marie-tooth disease, demyelinating, type 1cEnrichmentLITAF1.62
71Incontinentia pigmentiEnrichmentIKBKG1.62
72Type 1 diabetes mellitus 10EnrichmentIL2RA1.62
73Anemia, congenital, nonspherocytic hemolytic, 9EnrichmentGATA11.62
74Thrombocytopenia, x-linked, with or without dyserythropoietic anemiaEnrichmentGATA11.62
75Immunodysregulation, polyendocrinopathy, and enteropathy, x-linkedEnrichmentFOXP31.62
76Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.62
77Thrombocythemia 2EnrichmentMPL1.62
78Immunodeficiency 35EnrichmentTYK21.62
79Thrombocytopenia with beta-thalassemia, x-linkedEnrichmentGATA11.62
80Immunodeficiency 61EnrichmentSH3KBP11.62
81Prostate cancer, hereditary, 1EnrichmentRNASEL1.62
82Immunodeficiency 68EnrichmentMYD881.62
83Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A1.62
84Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF41.62
85Mastocytosis, cutaneousEnrichmentKIT1.62
86Orofacial cleft 6EnrichmentIRF61.62
87Celiac disease 3EnrichmentCTLA41.62
88Macroglobulinemia, waldenstrom 1EnrichmentMYD881.62
89Dermatitis, atopic, 4EnrichmentSOCS31.62
90Popliteal pterygium syndromeEnrichmentIRF61.62
91Vitiligo-associated multiple autoimmune disease susceptibility 1EnrichmentNLRP11.62
92Skeletal defects, genital hypoplasia, and impaired intellectual developmentEnrichmentZBTB161.62
93Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.62
94Immunodeficiency 83 viral infectionsEnrichmentTLR31.62
95Immunodeficiency 16EnrichmentTNFRSF41.62
96Polycystic lung diseaseEnrichmentCCR21.62
97Immunodeficiency 39 viral infectionsEnrichmentIRF71.62
98Amegakaryocytic thrombocytopenia, congenital, 1EnrichmentMPL1.62
99Multiple fibroadenomas of the breastEnrichmentPRLR1.62
100Leprosy 5EnrichmentTLR11.62
101Fetal encasement syndromeEnrichmentCHUK1.62
102Immunodeficiency 116EnrichmentCD8A1.62
103Encephalopathy, acute, infection-induced 7EnrichmentIRF31.62
104Immunodeficiency 43EnrichmentB2M1.62
105Bleeding disorder, platelet-type, 21EnrichmentFLI11.62
106Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunityEnrichmentRAG11.62
107Singleton-merten syndrome 1EnrichmentIFIH11.62
108Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosisEnrichmentIL1RN1.62
109Whim syndrome 1EnrichmentCXCR41.62
110Frontometaphyseal dysplasia 2EnrichmentMAP3K71.62
111Immunodeficiency 49, severe combinedEnrichmentBCL11B1.62
112Transient erythroblastopenia of childhoodEnrichmentTEC1.62
113Agammaglobulinemia 3, autosomal recessiveEnrichmentCD79A1.62
114Atrioventricular septal defect 5EnrichmentGATA61.62
115Immunodeficiency 32aEnrichmentIRF81.62
116Bleeding disorder, platelet-type, 17EnrichmentGFI1B1.62
117Encephalopathy, acute, infection-induced 6EnrichmentTICAM11.62
118Immunodeficiency 15bEnrichmentIKBKB1.62
119Immunodeficiency 69EnrichmentIFNG1.62
120Agammaglobulinemia 10, autosomal dominantEnrichmentSPI11.62
121Pseudo-torch syndrome 3EnrichmentSTAT21.62
122Stuve-wiedemann syndrome 2EnrichmentIL6ST1.62
123Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST1.62
124Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B1.62
125Immunodeficiency 107 invasive staphylococcus aureus infectionEnrichmentOTULIN1.62
126Immunodeficiency 81EnrichmentLCP21.62
127Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.62
128Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalitiesEnrichmentBCL11B1.62
129Immunodeficiency 15aEnrichmentIKBKB1.62
130Immunodeficiency 92EnrichmentREL1.62
131Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT61.62
132Immunodeficiency 95EnrichmentIFIH11.62
133Corpus callosum, partial agenesis of, x-linkedEnrichmentL1CAM1.62
134Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP1.62
135Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.62
136Hydrocephalus, congenital, x-linkedEnrichmentL1CAM1.62
137Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG1.62
138Lymphoproliferative syndrome, x-linked, 1EnrichmentSH2D1A1.62
139Immunodeficiency 131EnrichmentIRF41.62
140Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayEnrichmentPBX11.62
141Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB1.62
142Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.62
143Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.62
144Hyperemesis gravidarumEnrichmentGDF151.62
145Disabling pansclerotic morphea of childhoodEnrichmentSTAT41.62
146Immunodeficiency 48EnrichmentZAP701.62
147Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR71.62
148Autoimmune disease, multisystem, infantile-onset, 4EnrichmentPDCD11.62
149Autoinflammation with episodic fever and immune dysregulationEnrichmentSHARPIN1.62
150Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.62
151Anemia, x-linked, with or without neutropenia and/or platelet abnormalitiesEnrichmentGATA11.62
152Lymphedema, primary, with myelodysplasiaEnrichmentGATA21.62
153Immunodeficiency 60EnrichmentBACH21.62
154Graft-versus-host diseaseEnrichmentIL101.62
155X-linked immunodeficiency 74EnrichmentTLR71.62
156Thrombocytopenia 3EnrichmentFYB11.62
157Bartsocas-papas syndrome 1EnrichmentRIPK41.62
158Immunodeficiency 132aEnrichmentTRAF31.62
159Isolated growth hormone deficiency type iiiEnrichmentBTK1.62
160Respiratory papillomatosis, juvenile recurrent, congenitalEnrichmentNLRP11.62
161Type 1 diabetes mellitus 19EnrichmentIFIH11.62
162Immunodeficiency 132bEnrichmentTRAF31.62
163Systemic lupus erythematosus 17EnrichmentTLR71.62
164Multiple congenital anomalies-neurodevelopmental syndrome, x-linkedEnrichmentOTUD51.62
165Masa syndromeEnrichmentL1CAM1.62
166T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.62
167HyperprolactinemiaEnrichmentPRLR1.62
168Type 1 diabetes mellitus 12EnrichmentCTLA41.62
169Immunodeficiency 18EnrichmentCD3E1.62
170Systemic lupus erythematosus 11EnrichmentSTAT41.62
171Dialysis-related amyloidosisEnrichmentB2M1.62
172Immunodeficiency 39EnrichmentIRF71.62
173Persistent polyclonal b-cell lymphocytosisEnrichmentCARD111.62
174Asthma-related traits 5EnrichmentIRAK31.62
175Radioulnar synostosis with amegakaryocytic thrombocytopenia 2EnrichmentMECOM1.62
176Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.62
177Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.62
178Systemic lupus erythematosus 10EnrichmentIRF51.62
179Systemic lupus erythematosus 2EnrichmentPDCD11.62
180Microvascular complications of diabetes 4EnrichmentIL1RN1.62
181Lymphoproliferative syndrome 1EnrichmentITK1.62
182Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH1.62
183Immunodeficiency 67EnrichmentIRAK41.62
184Focal segmental glomerulosclerosis 3EnrichmentCD2AP1.62
185Glutathione peroxidase deficiencyEnrichmentGPX11.62
186Immunodeficiency 21EnrichmentGATA21.62
187Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB1.62
188Immunodeficiency 31aEnrichmentSTAT11.62
189Multiple sclerosis 5EnrichmentTNFRSF1A1.62
190Craniosynostosis 3EnrichmentTCF121.62
191Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.62
192Palmoplantar carcinoma, multiple self-healingEnrichmentNLRP11.62
193Immunodeficiency 12EnrichmentMALT11.62
194Recombinase activating gene 1 deficiencyEnrichmentRAG11.62
195Hemolytic uremic syndrome, atypical 2EnrichmentCD461.62
196Immunodeficiency, common variable, 3EnrichmentCD191.62
197Immunodeficiency 31bEnrichmentSTAT11.62
198Autoinflammation with arthritis and vasculitisEnrichmentTBK11.62
199Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD281.62
200Immunodeficiency 105, severe combinedEnrichmentPTPRC1.62
201Inflammatory bowel disease 14EnrichmentIRF51.62
202Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.62
203Atrial septal defect 9EnrichmentGATA61.62
204Heme oxygenase 1 deficiencyEnrichmentHMOX11.62
205Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.62
206Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaEnrichmentOAS11.62
207Immunodeficiency 22EnrichmentLCK1.62
208Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.62
209Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.62
210Singleton-merten syndrome 2EnrichmentRIGI1.62
211Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessiveEnrichmentOTULIN1.62
212T-cell lymphoma, subcutaneous panniculitis-likeEnrichmentHAVCR21.62
213Irf6-related disordersEnrichmentIRF61.62
214Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST1.62
215Autosomal dominant popliteal pterygium syndromeEnrichmentIRF61.62
216Immunodeficiency, common variable, 13EnrichmentIKZF11.62
217Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST1.62
218Congenital autosomal recessive small-platelet thrombocytopeniaEnrichmentFYB11.62
219Corticobasal syndromeEnrichmentTBK11.62
220Deafness-lymphedema-leukemia syndromeEnrichmentGATA21.62
221Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.62
222Immunodeficiency 53EnrichmentRELB1.62
223Bartsocas-papas syndrome 2EnrichmentCHUK1.62
224Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.62
225Immunodeficiency 60 and autoimmunityEnrichmentBACH21.62
226Autoinflammation with arthritis and dyskeratosisEnrichmentNLRP11.62
227Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.62
228Cd45 deficiencyEnrichmentPTPRC1.62
229Immunodeficiency 88EnrichmentTBX211.62
230Encephalopathy, acute, infection-induced 8EnrichmentTBK11.62
231Chronic mast cell leukemiaEnrichmentKIT1.62
232Sezary's diseaseEnrichmentBCL101.62
233Amyloidosis, hereditary systemic 6EnrichmentB2M1.62
234Deafness, autosomal dominant 69EnrichmentKITLG1.62
235Acute megakaryoblastic leukemia in children with down syndromeEnrichmentGATA11.62
236Aicardi-goutieres syndrome 7EnrichmentIFIH11.62
237T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK31.62
238Autoinflammation with pulmonary and cutaneous vasculitisEnrichmentHCK1.62
239Combined immunodeficiency due to dimerization defective ikaros mutationEnrichmentIKZF11.62
240Immunodeficiency 109 with lymphoproliferationEnrichmentTNFRSF91.62
241Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP31.62
242Charcot-marie-tooth disease type 1cEnrichmentLITAF1.62
243Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH1.62
244Autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominantEnrichmentOTULIN1.62
245Thrombocytopenia with congenital dyserythropoietic anemiaEnrichmentGATA11.62
246ColitisEnrichmentSYK1.62
247Immunodeficiency 112EnrichmentMAP3K141.62
248Familial hyperprolactinemiaEnrichmentPRLR1.62
249Autoimmune disease, multisystem, infantile-onset, 5EnrichmentCD2741.62
250Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.62
251AgammaglobulinemiaEnrichmentSPI11.62
252Isolated bone marrow mastocytosisEnrichmentKIT1.62
253Isolated delta-storage pool diseaseEnrichmentFLI11.62
254Smoldering systemic mastocytosisEnrichmentKIT1.62
255Vegetative pyoderma gangrenosumEnrichmentPTPN61.62
256Bullous pyoderma gangrenosumEnrichmentPTPN61.62
257Cd40 ligand deficiencyEnrichmentCD40LG1.62
258Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiencyEnrichmentIKZF31.62
259Agammaglobulinemia 3EnrichmentCD79A1.62
260Waldenstram macroglobulinemiaEnrichmentMYD881.62
261Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA1.62
262Pustular pyoderma gangrenosumEnrichmentPTPN61.62
263AtherosclerosisEnrichmentALOX51.62
264MastocytosisEnrichmentKIT1.62
265Early-onset combined immunodeficiency with low ig due to dominant negative ikaros mutationEnrichmentIKZF11.62
266Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.62
267X-linked complicated spastic paraplegia type 1EnrichmentL1CAM1.62
268Familial progressive hyperpigmentationEnrichmentKITLG1.62
269Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.62
270Whipple diseaseEnrichmentIRF41.62
271Cutaneous mastocytomaEnrichmentKIT1.62
272Distal monosomy 12pEnrichmentERC11.62
273Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaEnrichmentOAS11.62
274Typical urticaria pigmentosaEnrichmentKIT1.62
275Classic pyoderma gangrenosumEnrichmentPTPN61.62
276Nodular urticaria pigmentosaEnrichmentKIT1.62
277Combined immunodeficiency due to partial rag1 deficiencyEnrichmentRAG11.62
278Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF121.62
279Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.62
280Telangiectasia macularis eruptiva perstansEnrichmentKIT1.62
281Acute mast cell leukemiaEnrichmentKIT1.62
282Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.62
283Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.62
284Mucosa-associated lymphomaEnrichmentBCL101.62
285Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.62
286Plaque-form urticaria pigmentosaEnrichmentKIT1.62
287Microcephaly-polymicrogyria-corpus callosum agenesis syndromeEnrichmentEOMES1.62
288Nik deficiencyEnrichmentMAP3K141.62
289Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.62
290Zap70-related severe combined immunodeficiencyEnrichmentZAP701.62
291Polyvalvular heart disease syndromeEnrichmentTAB21.62
292Testis seminomaEnrichmentKIT1.62
293Mhc class ii deficiency 1EnrichmentCIITA, TAP21.56
294Leukemia, acute lymphoblasticEnrichmentIKZF1, PAX51.56
295Alzheimer's diseaseEnrichmentMPO, TNF1.42
296Nk-cell enteropathyEnrichmentJAK3, RUNX1T11.42
297Lung cancerEnrichmentFAS, FASLG, IRF11.39
298Myeloproliferative syndrome, transientEnrichmentGATA11.32
299Hashimoto thyroiditisEnrichmentCTLA41.32
300Leukocyte adhesion deficiency, type iEnrichmentITGB21.32
301Familial expansile osteolysisEnrichmentTNFRSF11A1.32
302Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.32
303Cylindromatosis, familialEnrichmentCYLD1.32
304Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyEnrichmentFOXP31.32
305Granulomatous disease, chronic, autosomal recessive, 1EnrichmentNCF11.32
306Immunodeficiency 32bEnrichmentIRF81.32
307Thrombocytopenia, paris-trousseau typeEnrichmentFLI11.32
308Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A1.32
309Hemangiopericytoma, malignantEnrichmentSTAT61.32
310Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1EnrichmentTYROBP1.32
311Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.32
312Porphyria, congenital erythropoieticEnrichmentGATA11.32
313Trichoepithelioma, multiple familial, 1EnrichmentCYLD1.32
314Ovarian germ cell cancerEnrichmentCBL1.32
315Schneckenbecken dysplasiaEnrichmentINPPL11.32
316Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.32
317Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.32
318Agammaglobulinemia 4, autosomal recessiveEnrichmentBLNK1.32
319Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.32
320Piebald traitEnrichmentKIT1.32
321Immunodeficiency with hyper-igm, type 2EnrichmentAICDA1.32
322Granulomatous disease, chronic, autosomal recessive, 3EnrichmentNCF41.32
323Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.32
324Maturity-onset diabetes of the young, type 11EnrichmentBLK1.32
325Immunodeficiency 11aEnrichmentCARD111.32
326Immunodeficiency 37EnrichmentBCL101.32
327Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.32
328Immunodeficiency, common variable, 10EnrichmentNFKB21.32
329Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP31.32
330Thrombocythemia 3EnrichmentJAK21.32
331Osteopetrosis, autosomal recessive 2EnrichmentTNFSF111.32
332Hypothyroidism, congenital, nongoitrous, 6EnrichmentNR1D11.32
333Immunodeficiency 31cEnrichmentSTAT11.32
334Encephalopathy, acute, infection-induced 10EnrichmentTPT11.32
335Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG11.32
336Neutropenia, severe congenital, 8, autosomal dominantEnrichmentGATA61.32
337Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentDCLRE1C1.32
338Waardenburg syndrome, type 2fEnrichmentKITLG1.32
339Immunodeficiency 11b with atopic dermatitisEnrichmentCARD111.32
340Diamond-blackfan anemia-likeEnrichmentIKZF11.32
341Agammaglobulinemia, x-linkedEnrichmentBTK1.32
342Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.32
343Immunodeficiency 66EnrichmentMRTFA1.32
344Frontotemporal dementia and/or amyotrophic lateral sclerosis 8EnrichmentCYLD1.32
345Autoimmune disease, multisystem, infantile-onset, 3EnrichmentCBLB1.32
346Intravascular large b-cell lymphomaEnrichmentBCL61.32
347Brooke-spiegler syndromeEnrichmentCYLD1.32
348Immunodeficiency 127EnrichmentTNF1.32
349Stevens-johnson syndromeEnrichmentIKZF11.32
350Rela fusion-positive ependymomaEnrichmentRELA1.32
351Agammaglobulinemia 4EnrichmentBLNK1.32
352Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentTBK11.32
353Leprosy 1EnrichmentTLR61.32
354Macrocephaly, dysmorphic facies, and psychomotor retardationEnrichmentERC11.32
355B-cell expansion with nfkb and t-cell anergyEnrichmentCARD111.32
356Congenital dyserythropoietic anemiaEnrichmentIRAK41.32
357Immunodeficiency 104, severe combinedEnrichmentPTPRC1.32
358Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.32
359Angiocentric gliomaEnrichmentMYB1.32
360Congenital heart defects, multiple types, 2EnrichmentTAB21.32
361B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.32
362Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.32
363Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.32
364Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.32
365PolycythemiaEnrichmentJAK21.32
366Immunodeficiency 52EnrichmentLAT1.32
367Portal hypertension, noncirrhotic, 2EnrichmentGIMAP51.32
368Congenital amegakaryocytic thrombocytopeniaEnrichmentMPL1.32
369Charcot-marie-tooth disease type 4dEnrichmentNDRG11.32
370Intermittent hydrarthrosisEnrichmentTNFRSF1A1.32
371Lymphomatoid papulosisEnrichmentTYK21.32
372Basal ganglia diseaseEnrichmentIFIH11.32
373Radioulnar synostosisEnrichmentMECOM1.32
374Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.32
375Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD191.32
376Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.32
377ArthritisEnrichmentSYK1.32
378Hypereosinophilic syndromeEnrichmentJAK21.32
379Immunodeficiency 117EnrichmentIRF11.32
380Van der woude syndromeEnrichmentIRF61.32
381Malignant germ cell tumor of ovaryEnrichmentCBL1.32
382Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB21.32
383Primary mediastinal large b-cell lymphomaEnrichmentBCL61.32
384Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentMECOM1.32
385Renal hypoplasia, bilateralEnrichmentPBX11.32
386B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.32
387B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.32
388Common variable immunodeficiency 12EnrichmentNFKB11.32
389Tafro syndromeEnrichmentRUNX11.32
390Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.32
391Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK21.32
392Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)EnrichmentMRTFA1.32
393B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)EnrichmentPAX51.32
394Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndromeEnrichmentMECOM1.32
395Patent foramen ovaleEnrichmentGATA6, TAB21.16
396Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.15
397Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.15
398Jacobsen syndromeEnrichmentFLI11.15
399Craniometaphyseal dysplasia, autosomal dominantEnrichmentOTULIN1.15
400Van der woude syndrome 1EnrichmentIRF61.15
401Pelvic organ prolapseEnrichmentTAB21.15
402Mesothelioma, malignantEnrichmentBCL101.15
403Asthma, nasal polyps, and aspirin intoleranceEnrichmentTBX211.15
404Combined cellular and humoral immune defects with granulomasEnrichmentRAG11.15
405Immune thrombocytopeniaEnrichmentSOCS11.15
406DysosteosclerosisEnrichmentTNFRSF11A1.15
407OpsismodysplasiaEnrichmentINPPL11.15
408Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB81.15
409Polycythemia veraEnrichmentJAK21.15
410Tuberous sclerosis 1EnrichmentIFNG1.15
411Granulomatous disease, chronic, autosomal recessive, 2EnrichmentNCF11.15
412Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX11.15
413Neurodegeneration with brain iron accumulation 5EnrichmentOTUD51.15
414Heart defects, congenital, and other congenital anomaliesEnrichmentGATA61.15
415Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.15
416Stuve-wiedemann syndrome 1EnrichmentIL6ST1.15
417Psoriatic arthritisEnrichmentTNF1.15
418Hepatitis c virusEnrichmentIFNG1.15
419Nasopharyngeal carcinomaEnrichmentNFKBIA1.15
420Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.15
421Tuberous sclerosis 2EnrichmentIFNG1.15
422Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentDCLRE1C1.15
423Folate malabsorption, hereditaryEnrichmentSARM11.15
424Dyskeratosis congenita, autosomal dominant 6EnrichmentMPL1.15
425Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferationEnrichmentCTLA41.15
426Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.15
427Immunodeficiency 84EnrichmentIKZF31.15
428Agammaglobulinemia 1EnrichmentBTK1.15
429Bacteremia 2EnrichmentCISH1.15
430Hyper ige syndromeEnrichmentSTAT31.15
431High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL61.15
432Proteosome-associated autoinflammatory syndromeEnrichmentPSMB81.15
433Asparagine synthetase deficiencyEnrichmentCTLA41.15
434Testicular germ cell cancerEnrichmentKIT1.15
435Frontometaphyseal dysplasiaEnrichmentMAP3K71.15
436T-cell acute lymphoblastic leukemiaEnrichmentBCL101.15
437Migraine without auraEnrichmentTNF1.15
438Immunodeficiency 44EnrichmentSTAT21.15
439End stage renal diseaseEnrichmentGATA31.15
440Laryngeal squamous cell carcinomaEnrichmentTNFRSF10B1.15
441Adenoid cystic carcinomaEnrichmentMYB1.15
442Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentDCLRE1C1.15
443Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeEnrichmentCTLA41.15
444Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX11.15
445Genetic atypical hemolytic-uremic syndromeEnrichmentCD461.15
446T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD3E1.15
447Stüve-wiedemann syndromeEnrichmentIL6ST1.15
448Testicular cancerEnrichmentBCL101.15
449Gastric cancerEnrichmentIL1B, IL1RN, IRF11.07
450Erythrocytosis, familial, 1EnrichmentJAK21.03
451Myeloperoxidase deficiencyEnrichmentMPO1.03
452Temporal arteritisEnrichmentPTPN221.03
453Down syndromeEnrichmentGATA11.03
454Granulomatous disease, chronic, x-linkedEnrichmentNCF11.03
455Budd-chiari syndromeEnrichmentJAK21.03
456Paget disease of bone 2, early-onsetEnrichmentTNFRSF11A1.03
457Chondrocalcinosis 2EnrichmentOTULIN1.03
458Aicardi-goutieres syndrome 1EnrichmentDCLRE1C1.03
459Portal hypertensionEnrichmentGIMAP51.03
460TuberculosisEnrichmentCISH1.03
461Hellp syndromeEnrichmentCD461.03
462Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL1.03
463Blood platelet diseaseEnrichmentRUNX11.03
464Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentKIT1.03
465Adenosine deaminase deficiencyEnrichmentJAK31.03
466Autosomal recessive osteopetrosisEnrichmentTNFSF111.03
467Paget's disease of bone 2EnrichmentTNFRSF11A1.03
468Cerebral malariaEnrichmentTNF1.03
469Non-syndromic bicoronal craniosynostosisEnrichmentTCF121.03
470Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.03
471Middle aortic syndromeEnrichmentGATA61.03
472Cleft lip and alveolusEnrichmentIRF61.03
473Thrombotic microangiopathyEnrichmentCD461.03
474Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF60.94
475Amyloidosis, hereditary systemic 2EnrichmentB2M0.94
476Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG0.94
477Chondrosarcoma, extraskeletal myxoidEnrichmentTCF120.94
478Congenital heart defects, multiple types, 4EnrichmentGATA60.94
479Muscular dystrophy, limb-girdle, autosomal recessive 23EnrichmentL1CAM0.94
480Spastic diplegiaEnrichmentIFIH10.94
481Acute myeloid leukemia with maturationEnrichmentKIT0.94
482Vascular dementiaEnrichmentTNF0.94
483Acute megakaryocytic leukemiaEnrichmentGATA10.94
484Cleft upper lipEnrichmentIRF60.94
485Inherited acute myeloid leukemiaEnrichmentCEBPA0.94
486Diffuse cutaneous systemic sclerosisEnrichmentIRF50.94
487Persistent truncus arteriosusEnrichmentGATA60.94
488Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RB0.94
489Idiopathic aplastic anemiaEnrichmentIFNG0.94
490Dyskeratosis congenita, autosomal dominant 1EnrichmentMECOM0.87
491Conotruncal heart malformationsEnrichmentGATA60.87
492Type 1 diabetes mellitusEnrichmentFOXP30.87
493Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK10.87
494PancytopeniaEnrichmentRUNX10.87
495Chronic mucocutaneous candidiasisEnrichmentSTAT10.87
496Limited sclerodermaEnrichmentIRF50.87
497Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentCD460.87
498Myeloma, multipleEnrichmentCYLD, TCF3, TRAF50.82
499Fundus albipunctatusEnrichmentCD630.80
500Squamous cell carcinoma, head and neckEnrichmentTNFRSF10B0.80
501Gastrointestinal stromal tumorEnrichmentKIT0.80
502Waardenburg syndrome, type 2eEnrichmentKITLG0.80
503Leukemia, chronic myeloidEnrichmentRUNX10.80
504Dyskeratosis congenita, autosomal dominant 2EnrichmentMECOM0.80
505Alzheimer's disease 1EnrichmentMPO0.80
506Motor neuron diseaseEnrichmentTBK10.80
507B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentIKZF10.80
508Primary ovarian insufficiencyEnrichmentJAK2, MECOM, PRLR0.77
509Narcolepsy 1EnrichmentTNFSF40.75
510Ewing sarcomaEnrichmentFLI10.75
511Permanent neonatal diabetes mellitusEnrichmentSTAT30.75
512Cardiomyopathy, familial hypertrophic, 4EnrichmentNCF10.71
513Charge syndromeEnrichmentTNFRSF1A0.71
514Inflammatory bowel disease 1EnrichmentPRKCQ0.71
515Coronary heart disease 5EnrichmentIKBKG0.71
516Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX10.71
517Progressive non-fluent aphasiaEnrichmentTBK10.71
518Mhc class ii deficiencyEnrichmentCIITA0.71
519Aicardi-goutiares syndromeEnrichmentIFIH10.71
520Inherited cancer-predisposing syndromeEnrichmentCEBPA, CYLD, KIT, MECOM, RUNX10.67
521Leukemia, chronic lymphocyticEnrichmentIKZF30.66
522Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentTBK10.66
523Aplastic anemiaEnrichmentIFNG0.66
524Aicardi-goutieres syndromeEnrichmentIFIH10.66
525Autosomal dominant macrothrombocytopeniaEnrichmentGFI1B0.66
526Migraine with or without aura 1EnrichmentTAB20.63
527Myelodysplastic syndromeEnrichmentGATA20.63
528Lung non-small cell carcinomaEnrichmentIRF10.63
529IchthyosisEnrichmentIL2RB0.63
530Juvenile myelomonocytic leukemiaEnrichmentCBL0.60
531Lip and oral cavity carcinomaEnrichmentKIT0.60
532Charcot-marie-tooth diseaseEnrichmentLITAF, NDRG10.59
533Autism spectrum disorderEnrichmentARIH2, BCL11B, PBX1, TCF120.57
534Aortic valve disease 1EnrichmentTAB20.57
535Diaphragmatic hernia, congenitalEnrichmentGATA60.57
536Pulmonary disease, chronic obstructiveEnrichmentHMOX10.57
537Protein-deficiency anemiaEnrichmentGATA10.57
538Multiple sclerosisEnrichmentTNFRSF1A0.54
539Cleft lip/palateEnrichmentIRF60.54
540Atypical hemolytic-uremic syndromeEnrichmentCD460.51
541Noonan syndrome and noonan-related syndromeEnrichmentCBL0.51
542RhabdomyosarcomaEnrichmentCBL0.49
543GliosarcomaEnrichmentNFKBIA0.49
544Alzheimer disease, familial, 1EnrichmentMPO0.47
545Cleft palate, isolatedEnrichmentIRF60.47
546Giant cell glioblastomaEnrichmentNFKBIA0.47
547Charcot-marie-tooth disease type 4EnrichmentNDRG10.45
548Esophageal atresia/tracheoesophageal fistulaEnrichmentIRF80.43
549Hereditary breast ovarian cancer syndromeEnrichmentLCP1, RIPK10.42
550Williams-beuren syndromeEnrichmentNCF10.41
551Maturity-onset diabetes of the youngEnrichmentBLK0.41
552CraniosynostosisEnrichmentTCF120.41
553Cardiomyopathy, dilated, 1aEnrichmentNFATC20.40
554Centronuclear myopathyEnrichmentFOXP30.40
555Myocardial infarctionEnrichmentTNFSF40.38
556Tooth agenesisEnrichmentIRF60.38
557Diamond-blackfan anemia 1EnrichmentGATA10.37
558Noonan syndrome 1EnrichmentCBL0.37
559Congenital stationary night blindnessEnrichmentCD630.37
560Familial atrial fibrillationEnrichmentGATA60.35
561Tetralogy of fallotEnrichmentGATA60.33
562RasopathyEnrichmentCBL0.33
563Prostate cancerEnrichmentRNASEL0.29
564Severe covid-19EnrichmentJAK30.29
565Differentiated thyroid carcinomaEnrichmentERC10.29
566Cystic fibrosisEnrichmentHMOX10.27
567NephronophthisisEnrichmentPIAS10.26
568CakutEnrichmentGATA30.25
569Genetic steroid-resistant nephrotic syndromeEnrichmentCD2AP0.25
570Dilated cardiomyopathyEnrichmentGATA6, TAB20.24
571Diamond-blackfan anemiaEnrichmentGATA10.23
572Colorectal cancerEnrichmentBCL10, TLR20.20
573Ovarian cancerEnrichmentKIT, RNASEL0.15
574Autosomal dominant non-syndromic intellectual disabilityEnrichmentPPP3CA0.15
575Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKITLG0.14
576Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA0.13
577Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentTBK10.12
578Breast cancerEnrichmentIL20.08
579Mitochondrial diseaseEnrichmentC1QBP0.05
580MicrocephalyEnrichmentBCL11B0.02
581Complex neurodevelopmental disorderEnrichmentOTUD50.02
582Hereditary retinal dystrophyEnrichmentCD630.00
583Fundus dystrophyEnrichmentCD630.00

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