Toll Like Receptor 7/8 (TLR7/8) Cascade

Pathway network for the Toll Like Receptor 7/8 (TLR7/8) Cascade SuperPath

Sources:
  • Reactome
  • WikiPathways

Pathways in the Toll Like Receptor 7/8 (TLR7/8) Cascade SuperPath

#NameSourceGenes
1Toll Like Receptor 7/8 (TLR7/8) CascadeReactome
2Toll-like Receptor CascadesReactome
3Toll Like Receptor 4 (TLR4) CascadeReactome
4Toll Like Receptor 2 (TLR2) CascadeReactome
5Toll Like Receptor TLR1:TLR2 CascadeReactome
6MyD88:MAL(TIRAP) cascade initiated on plasma membraneReactome
7Toll Like Receptor TLR6:TLR2 CascadeReactome
8MyD88-independent TLR4 cascadeReactome
9TRIF (TICAM1)-mediated TLR4 signalingReactome
10Toll Like Receptor 9 (TLR9) CascadeReactome
11Toll Like Receptor 3 (TLR3) CascadeReactome
12MyD88 dependent cascade initiated on endosomeReactome
13TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activationReactome
14Toll Like Receptor 10 (TLR10) CascadeReactome
15Toll Like Receptor 5 (TLR5) CascadeReactome
16MyD88 cascade initiated on plasma membraneReactome
17TAK1-dependent IKK and NF-kappa-B activationReactome
18TRAF6 mediated NF-kB activationReactome
19TICAM1, RIP1-mediated IKK complex recruitmentReactome
20Activation of IRF3, IRF7 mediated by TBK1, IKKε (IKBKE)Reactome
21Regulation of NF-kappa B signalingReactome
22MYD88 distinct input-output pathwayWikiPathways
23TRAF6-mediated induction of TAK1 complex within TLR4 complexReactome
24IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulationReactome
25Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7Reactome
26TICAM1-dependent activation of IRF3/IRF7Reactome
27TRAF6 mediated IRF7 activation in TLR7/8 or 9 signalingReactome
28Trafficking and processing of endosomal TLRReactome
29Alpha-protein kinase 1 signaling pathwayReactome
30Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligationReactome
31TICAM1,TRAF6-dependent induction of TAK1 complexReactome
32TRIF-mediated programmed cell deathReactome
33IRAK2 mediated activation of TAK1 complexReactome
34TLR3-mediated TICAM1-dependent programmed cell deathReactome
35SLC15A4:TASL-dependent IRF5 activationReactome
36TRAF3 deficiency - HSEReactome
37UNC93B1 deficiency - HSEReactome
38TICAM1 deficiency - HSEReactome
39TLR3 deficiency - HSEReactome

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

Disorders associated with Toll Like Receptor 7/8 (TLR7/8) Cascade SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Immune deficiency diseaseDirect
2Herpes simplex virus encephalitisEnrichmentTBK1, TICAM1, TLR3, TRAF310.81
3Dysfibrinogenemia, congenitalEnrichmentFGA, FGB, FGG6.27
4Familial dysfibrinogenemiaEnrichmentFGA, FGB, FGG6.27
5Familial hypofibrinogenemiaEnrichmentFGA, FGB, FGG6.27
6Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD886.07
7Multisystem inflammatory syndrome in childrenEnrichmentIRF3, TLR3, TRAF35.98
8Afibrinogenemia, congenitalEnrichmentFGA, FGB, FGG5.67
9Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA5.49
10Singleton-merten syndromeEnrichmentIFIH1, RIGI5.49
11Motor neuron diseaseEnrichmentOPTN, TBK14.90
12Diffuse large b-cell lymphomaEnrichmentBTK, MYD88, SOCS1, TP534.82
13Nasopharyngeal carcinomaEnrichmentNFKBIA, TP534.51
14MalariaEnrichmentCD36, IKBKG, MAPKAPK3, TIRAP4.48
15Immunodeficiency 33EnrichmentIKBKG, IRAK44.31
16Adult hepatocellular carcinomaEnrichmentCASP8, TP534.23
17Common variable immunodeficiencyEnrichmentNFKB1, NFKB24.17
18Specific learning disabilityEnrichmentMAPK1, PTPN11, RPS6KA34.09
19Systemic lupus erythematosusEnrichmentIRAK1, IRF5, ITGAM, SOCS1, TLR73.92
20Melanoma of soft tissueEnrichmentATF1, CREB13.84
21Hepatocellular carcinomaEnrichmentCASP8, TP533.42
22Caspase 8 deficiencyEnrichmentCASP83.35
23Immunodeficiency 83 viral infectionsEnrichmentTLR33.35
24Encephalopathy, acute, infection-induced 6EnrichmentTICAM13.35
25Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD3.35
26Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK13.35
27Incontinentia pigmentiEnrichmentIKBKG3.35
28Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG3.35
29Fetal encasement syndromeEnrichmentCHUK3.35
30Immunodeficiency 15bEnrichmentIKBKB3.35
31Immunodeficiency 15aEnrichmentIKBKB3.35
32Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG3.35
33Systemic lupus erythematosus 10EnrichmentIRF53.35
34Inflammatory bowel disease 14EnrichmentIRF53.35
35Bartsocas-papas syndrome 2EnrichmentCHUK3.35
36Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK3.35
37LymphomaEnrichmentPTPN11, TP533.19
38Macular degeneration, age-related, 10EnrichmentTLR43.13
39Cardiospondylocarpofacial syndromeEnrichmentMAP3K73.13
40Frontometaphyseal dysplasia 2EnrichmentMAP3K73.13
41Polyvalvular heart disease syndromeEnrichmentTAB23.13
42Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeEnrichmentALPK13.09
43Alpk1-related autoinflammatory diseaseEnrichmentALPK13.09
44Immunodeficiency 132aEnrichmentTRAF33.09
45Immunodeficiency 132bEnrichmentTRAF33.09
46Autoinflammation with arthritis and vasculitisEnrichmentTBK13.09
47Corticobasal syndromeEnrichmentTBK13.09
48Encephalopathy, acute, infection-induced 8EnrichmentTBK13.09
49Immunodeficiency 57 with autoinflammationEnrichmentRIPK13.05
50Oculootodental syndromeEnrichmentFADD3.05
51Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG3.05
52Anemia, autoimmune hemolyticEnrichmentSOCS1, TLR83.04
53Immunodeficiency 39 viral infectionsEnrichmentIRF73.02
54Encephalopathy, acute, infection-induced 7EnrichmentIRF33.02
55Immunodeficiency 39EnrichmentIRF73.02
56Immunodeficiency 68EnrichmentMYD883.02
57Macroglobulinemia, waldenstrom 1EnrichmentMYD883.02
58Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR73.02
59X-linked immunodeficiency 74EnrichmentTLR73.02
60Systemic lupus erythematosus 17EnrichmentTLR73.02
61Immunodeficiency 67EnrichmentIRAK43.02
62Waldenstram macroglobulinemiaEnrichmentMYD883.02
63Keratolytic winter erythemaEnrichmentCTSB3.02
64PycnodysostosisEnrichmentCTSK3.02
65Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentOPTN, TBK13.02
66GliosarcomaEnrichmentNFKBIA, TP532.92
67Bone marrow failure syndrome 5EnrichmentTP532.88
68Papilloma of choroid plexusEnrichmentTP532.88
69Basal cell carcinoma 7EnrichmentTP532.88
70Anaplastic thyroid carcinomaEnrichmentTP532.88
71Ductal carcinoma in situEnrichmentTP532.88
72Pseudo-torch syndrome 2EnrichmentUSP182.88
73Thyroid gland undifferentiated carcinomaEnrichmentTP532.88
74Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.88
75Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.88
76Choroid plexus cancerEnrichmentTP532.88
77Pleomorphic xanthoastrocytomaEnrichmentTP532.88
78Leprosy 3EnrichmentTLR22.88
79Legionnaire diseaseEnrichmentTLR52.88
80Leprosy 5EnrichmentTLR12.88
81Systemic lupus erythematosus 1EnrichmentTLR52.88
82MelioidosisEnrichmentTLR52.88
83Giant cell glioblastomaEnrichmentNFKBIA, TP532.87
84MetachondromatosisEnrichmentPTPN112.85
85Leopard syndrome 1EnrichmentPTPN112.85
86Malignant astrocytomaEnrichmentPTPN112.85
87Lung cancerEnrichmentCASP8, MAP3K8, PPP2R1B2.85
88Congenital heart defects, multiple types, 2EnrichmentTAB22.83
89Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB22.83
90Submucosal cleft palateEnrichmentUBB2.83
91Cleft hard palateEnrichmentUBB2.83
92Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentTBK12.79
93Amyotrophic lateral sclerosis 12 with or without frontotemporal dementiaEnrichmentOPTN2.79
94Amyotrophic lateral sclerosis type 12EnrichmentOPTN2.79
95Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB12.73
9646,xy sex reversal 6EnrichmentMAP3K12.73
97Singleton-merten syndrome 1EnrichmentIFIH12.73
98Immunodeficiency 95EnrichmentIFIH12.73
99Type 1 diabetes mellitus 19EnrichmentIFIH12.73
100Cerebral amyloid angiopathy, app-relatedEnrichmentAPP2.73
101Singleton-merten syndrome 2EnrichmentRIGI2.73
102Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.73
103Serum amyloid a amyloidosisEnrichmentSAA12.73
104Aicardi-goutieres syndrome 7EnrichmentIFIH12.73
105Congenital dyserythropoietic anemiaEnrichmentIRAK42.72
106Developmental and epileptic encephalopathy 60EnrichmentCNPY32.72
107Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG2.66
108Diffuse cutaneous systemic sclerosisEnrichmentIRF52.66
109Pelvic organ prolapseEnrichmentTAB22.66
110Uvula, bifidEnrichmentUBB2.66
111Cleft soft palateEnrichmentUBB2.66
112Frontometaphyseal dysplasiaEnrichmentMAP3K72.66
113Glaucoma, normal tensionEnrichmentOPTN2.61
114Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK12.58
115Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK12.58
116Limited sclerodermaEnrichmentIRF52.58
117Adrenocortical carcinoma, hereditaryEnrichmentTP532.58
118Cervical cancerEnrichmentTP532.58
119Lymphoma, hodgkin, classicEnrichmentTP532.58
120Congenital fibrosarcomaEnrichmentTP532.58
121Li-fraumeni syndrome 1EnrichmentTP532.58
122SarcomaEnrichmentTP532.58
123Cervix carcinomaEnrichmentTP532.58
124Hodgkin's lymphomaEnrichmentTP532.58
125Pleomorphic rhabdomyosarcomaEnrichmentTP532.58
126Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.58
127Leprosy 1EnrichmentTLR62.58
128Common variable immunodeficiency 12EnrichmentNFKB12.58
129Werner syndromeEnrichmentPTPN112.55
130Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentTLR82.54
131Encephalopathy, acute, infection-induced 1EnrichmentUNC93B12.54
132Nail disorder, nonsyndromic congenital, 9EnrichmentCTSK2.54
133Lennox-gastaut syndromeEnrichmentDNM1, MAPK102.52
134Blau syndromeEnrichmentNOD22.49
135Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF62.43
136Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP2.43
137Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.43
138Immunodeficiency, common variable, 10EnrichmentNFKB22.43
139Diamond-blackfan anemia 12EnrichmentNKIRAS12.43
140Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.43
141Rela fusion-positive ependymomaEnrichmentRELA2.43
142Basal ganglia diseaseEnrichmentIFIH12.43
143Folate malabsorption, hereditaryEnrichmentSARM12.43
144Pediatric systemic lupus erythematosusEnrichmentIRAK12.42
145Rheumatoid arthritisEnrichmentIRF52.40
146Coronary heart disease 5EnrichmentIKBKG2.40
147Primary biliary cholangitisEnrichmentIRF52.40
148Osteogenic sarcomaEnrichmentTP532.40
149Atypical teratoid rhabdoid tumorEnrichmentTP532.40
150Anaplastic astrocytomaEnrichmentTP532.40
151Squamous cell carcinomaEnrichmentTP532.40
152AdenocarcinomaEnrichmentTP532.40
153Bone osteosarcomaEnrichmentTP532.40
154Amyotrophic lateral sclerosis 10 with or without frontotemporal dementiaEnrichmentOPTN2.39
155Tricuspid valve insufficiencyEnrichmentPTPN112.38
156Breast cancerEnrichmentCASP8, TP532.36
157Glaucoma, primary open angleEnrichmentOPTN2.31
158Small cell cancer of the lungEnrichmentTP532.28
159Thyroid cancer, nonmedullary, 1EnrichmentTP532.28
160Lung sarcomatoid carcinomaEnrichmentTP532.28
161Embryonal rhabdomyosarcomaEnrichmentTP532.28
162Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentRNF1352.26
163Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN112.25
164Noonan syndrome with multiple lentiginesEnrichmentPTPN112.25
165Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, PTPN112.19
166Yao syndromeEnrichmentNOD22.19
167Crohn's diseaseEnrichmentNOD22.19
168Rhabdomyosarcoma 2EnrichmentTP532.18
169Acute megakaryocytic leukemiaEnrichmentTP532.18
170Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC32.16
171Coffin-lowry syndromeEnrichmentRPS6KA32.15
172Melorheostosis, isolatedEnrichmentMAP2K12.15
173Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.15
174Noonan syndrome 13EnrichmentMAPK12.15
175Neurodevelopmental, jaw, eye, and digital syndromeEnrichmentFBXW112.15
176Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.15
177Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.15
178Houge-janssens syndrome 2EnrichmentPPP2R1A2.15
179Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A2.15
180MelorheostosisEnrichmentMAP2K12.15
181Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP62.15
182Macular dystrophy, patterned, 3EnrichmentMAPKAPK32.15
183Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.15
1845q14.3 microdeletion syndromeEnrichmentMEF2C2.15
185Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.15
186Mef2c-related disorderEnrichmentMEF2C2.15
187Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.15
188Progressive non-fluent aphasiaEnrichmentTBK12.14
189Immunodeficiency, common variable, 1EnrichmentNFKB22.13
190Li-fraumeni syndromeEnrichmentTP532.10
191Adrenocortical carcinomaEnrichmentTP532.10
192Breast adenocarcinomaEnrichmentTP532.10
193Human immunodeficiency virus type 1EnrichmentTLR32.10
194Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalitiesEnrichmentRBSN2.09
195Kariminejad neurodevelopmental syndromeEnrichmentRBSN2.09
196Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentTBK12.09
197Migraine with or without aura 1EnrichmentTAB22.09
198Coronary heart disease 7EnrichmentCD362.09
199Bacteremia 1EnrichmentTIRAP2.09
200Isolated growth hormone deficiency type iiiEnrichmentBTK2.09
201Asthma-related traits 5EnrichmentIRAK32.09
202Platelet glycoprotein iv deficiencyEnrichmentCD362.09
203Congenital fibrinogen deficiencyEnrichmentFGG2.09
204Patent ductus arteriosusEnrichmentPTPN112.08
205Interstitial lung disease 1EnrichmentSFTPA12.08
206Behcet syndromeEnrichmentNOD2, TLR42.06
207Interstitial lung disease 2EnrichmentSFTPA1, SFTPA22.06
208Patent foramen ovaleEnrichmentPTPN11, TAB22.04
209Spastic diplegiaEnrichmentIFIH12.04
210Esophageal cancerEnrichmentTP532.03
211Squamous cell carcinoma, head and neckEnrichmentTP532.03
212Essential thrombocythemiaEnrichmentTP532.03
213Gallbladder cancerEnrichmentTP532.03
214B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP532.03
215Primary bone dysplasiaEnrichmentCTSK2.02
216Aortic valve disease 1EnrichmentTAB22.02
217Noonan syndrome 3EnrichmentPTPN112.01
218OsteochondrodysplasiaEnrichmentCTSK1.98
219Glioma susceptibility 1EnrichmentTP531.98
220Lymphoma, non-hodgkin, familialEnrichmentTP531.98
221Systemic lupus erythematosus 6EnrichmentITGAM1.97
222Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM21.97
223Lethal congenital contracture syndrome 5EnrichmentDNM21.97
224Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.97
225Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.97
226Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM21.97
227Primary hyperaldosteronismEnrichmentTP531.93
228Deafness, autosomal dominant 5EnrichmentGSDME1.90
229Alzheimer's disease 1EnrichmentAPP1.89
230Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP1.89
231Leukemia, chronic lymphocyticEnrichmentTP531.88
232Familial colorectal cancerEnrichmentTP531.88
233Ciliary dyskinesia, primary, 3EnrichmentNFKB11.88
234Scoliosis, isolated 1EnrichmentMAPK71.86
235Histiocytoma, angiomatoid fibrousEnrichmentCREB11.86
236Houge-janssens syndrome 1EnrichmentPPP2R5D1.86
237Houge-janssens syndrome 3EnrichmentPPP2CA1.86
238Myelodysplastic syndromeEnrichmentTP531.84
239Severe combined immunodeficiencyEnrichmentIKBKB1.84
240Noonan syndrome 1EnrichmentMAP2K1, PTPN111.83
241Pectus excavatumEnrichmentPTPN111.82
242Lip and oral cavity carcinomaEnrichmentTP531.80
243Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.79
244Agammaglobulinemia, x-linkedEnrichmentBTK1.79
245Aicardi-goutiares syndromeEnrichmentIFIH11.78
246EpicanthusEnrichmentPTPN111.78
247Juvenile myelomonocytic leukemiaEnrichmentPTPN111.78
248Congenital long qt syndromeEnrichmentPTPN111.78
249Aicardi-goutieres syndromeEnrichmentIFIH11.74
250Lung cancer susceptibility 3EnrichmentTP531.73
251RasopathyEnrichmentMAP2K1, PTPN111.73
25246,xy complete gonadal dysgenesisEnrichmentMAP3K11.70
253Langerhans cell histiocytosisEnrichmentMAP2K11.68
254Bacteremia 2EnrichmentMAPKAPK31.68
255RhabdomyosarcomaEnrichmentTP531.68
256Leukocyte adhesion deficiency, type iEnrichmentITGB21.67
257Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.67
258ScoliosisEnrichmentCTSK1.64
259Alzheimer's diseaseEnrichmentAPP1.63
260Hereditary breast ovarian cancer syndromeEnrichmentRIPK11.62
261Immune thrombocytopeniaEnrichmentSOCS11.61
262Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.61
263Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.61
264Agammaglobulinemia 1EnrichmentBTK1.61
265Hypobetalipoproteinemia, familial, 1EnrichmentAPOB1.60
266HypobetalipoproteinemiaEnrichmentAPOB1.60
26746,xy partial gonadal dysgenesisEnrichmentMAP3K11.59
268HepatoblastomaEnrichmentTP531.56
269Cardiofaciocutaneous syndrome 1EnrichmentMAP2K11.56
270Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.56
271Congenital generalized lipodystrophyEnrichmentFOS1.56
272Cardiofaciocutaneous syndromeEnrichmentMAP2K11.56
273TuberculosisEnrichmentMAPKAPK31.56
274Inflammatory bowel disease 1EnrichmentNOD21.54
275Diamond-blackfan anemia 1EnrichmentTP531.52
276Alzheimer disease, familial, 1EnrichmentAPP1.51
277Myopathy, centronuclear, x-linkedEnrichmentDNM21.50
278Developmental and epileptic encephalopathy 31bEnrichmentDNM11.50
279Blood platelet diseaseEnrichmentCD361.49
280Cerebral malariaEnrichmentCD361.49
281Pancreatic cancerEnrichmentTP531.49
282Histiocytoid hemangiomaEnrichmentFOS1.46
283Hydrops fetalis, nonimmuneEnrichmentPTPN111.45
284Hypercholesterolemia, familial, 2EnrichmentAPOB1.43
285StrabismusEnrichmentPTPN111.43
286Bladder cancerEnrichmentTP531.42
287Prostate cancerEnrichmentTP531.42
288Amyloidosis, hereditary systemic 2EnrichmentFGA1.40
289Long qt syndrome 1EnrichmentPTPN111.38
290West syndromeEnrichmentCNPY31.38
291Non-immune hydrops fetalisEnrichmentPTPN111.37
292Diamond-blackfan anemiaEnrichmentTP531.33
293Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.32
294Leukemia, acute myeloidEnrichmentTP531.29
295Developmental and epileptic encephalopathy 31aEnrichmentDNM11.28
296Gastroesophageal refluxEnrichmentRPS6KA31.26
297Orthostatic intoleranceEnrichmentRPS6KA31.26
298Isolated split hand-split foot malformationEnrichmentBTRC1.26
299Gastric cancerEnrichmentTP531.26
300Thrombophilia due to thrombin defectEnrichmentFGA1.25
301Hereditary breast carcinomaEnrichmentTP531.25
302Dilated cardiomyopathyEnrichmentTAB21.24
303Hypertrophic cardiomyopathyEnrichmentPTPN111.23
304Autism spectrum disorderEnrichmentMAP2K1, MEF2C, PTPN111.23
305Hyperlipidemia, familial combined, 3EnrichmentAPOB1.21
306Arteriovenous malformationEnrichmentMAP2K11.21
307Ventricular septal defectEnrichmentRPS6KA31.21
308Myopathy, centronuclear, 1EnrichmentDNM21.20
309Spastic paraplegia 4, autosomal dominantEnrichmentFGG1.20
310ThrombocytopeniaEnrichmentPTPN111.19
311Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.17
312Myeloma, multipleEnrichmentTP531.14
313Lung non-small cell carcinomaEnrichmentMAP2K11.13
314Autoinflammatory diseaseEnrichmentNOD21.12
315Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN111.12
316Homozygous familial hypercholesterolemiaEnrichmentAPOB1.02
317Colorectal cancerEnrichmentTP530.96
318Heart, malformation ofEnrichmentMAPK10.92
319Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP60.92
320Ovarian cancerEnrichmentTP530.90
321Stereotypic movement disorderEnrichmentDNM10.88
322Kallmann syndromeEnrichmentDUSP60.83
323Hypercholesterolemia, familial, 1EnrichmentAPOB0.82
324MicrocephalyEnrichmentPTPN110.80
325Inherited cancer-predisposing syndromeEnrichmentTP530.79
326Familial hypercholesterolemiaEnrichmentAPOB0.76
327Centronuclear myopathyEnrichmentDNM20.69
328Complex neurodevelopmental disorderEnrichmentFBXW11, PPP2CA0.67
329Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.65
330HypertelorismEnrichmentRPS6KA30.51
331MyopathyEnrichmentDNM20.46
332Charcot-marie-tooth diseaseEnrichmentDNM20.45
333Undetermined early-onset epileptic encephalopathyEnrichmentDNM10.34
334Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentGSDME0.32
335Rare genetic deafnessEnrichmentGSDME0.20

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