Toll-like receptor signaling pathway

Pathway network for the Toll-like receptor signaling pathway SuperPath

Sources:
  • WikiPathways

Pathways in the Toll-like receptor signaling pathway SuperPath

#NameSourceGenes
1Toll-like receptor signaling pathwayWikiPathways
2Hepatitis B infectionWikiPathways
3Regulation of toll-like receptor signaling pathwayWikiPathways
4Measles virus infectionWikiPathways

Gene overlap in member pathways for Toll-like receptor signaling pathway SuperPath

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

Disorders associated with Toll-like receptor signaling pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS216.00
2Multisystem inflammatory syndrome in childrenEnrichmentIFNA21, IFNA4, IFNA6, IFNAR2, IFNB1, IRF3, TLR3, TLR6, TRAF310.89
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS110.74
4Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS210.48
5Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR29.78
6Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA9.12
7Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.83
8Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.83
9Herpes simplex virus encephalitisEnrichmentTBK1, TICAM1, TLR3, TRAF37.81
10Colorectal cancerEnrichmentAKT1, BAX, BRAF, EP300, NRAS, PIK3CA, PIK3R1, SMAD4, SRC, TLR27.38
11Systemic lupus erythematosusEnrichmentIRAK1, IRF5, SOCS1, SPP1, TLR7, TNF, TNFAIP36.80
12Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR26.30
13Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA6.30
14Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS16.30
15Gallbladder cancerEnrichmentBRAF, KRAS, PIK3CA, SMAD46.30
16Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF16.00
17Lung cancerEnrichmentBRAF, CASP8, FAS, FASLG, KRAS, PIK3CA5.91
18Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS5.87
19Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT35.87
20Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR25.87
21Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.77
22Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.27
23Autoimmune lymphoproliferative syndromeEnrichmentCASP10, FAS, FASLG5.27
24Severe combined immunodeficiencyEnrichmentCD3D, CD3E, CD3G, IKBKB, JAK34.75
25Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA4.58
26Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS4.34
27Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA4.34
28Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.34
29Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS4.34
30Diffuse large b-cell lymphomaEnrichmentBRAF, CREBBP, MYD88, STAT34.30
31Immunodeficiency 33EnrichmentIKBKG, IRAK44.24
32Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.24
33Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD884.24
34Adult hepatocellular carcinomaEnrichmentCASP8, PIK3CA, TP534.10
35MalariaEnrichmentCISH, IKBKG, TIRAP, TNF4.02
36Singleton-merten syndromeEnrichmentIFIH1, RIGI4.00
37Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA3.97
38Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosisEnrichmentRBCK1, RNF313.95
39Pulmonic stenosisEnrichmentBRAF, SOS13.91
40Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.91
41Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.91
42Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.91
43Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR23.81
44Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA3.81
45Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.77
46Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.77
47Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.77
48Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA3.56
49Bladder cancerEnrichmentCDKN1A, HRAS, KRAS, PIK3CA3.55
50Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS3.55
51Nasopharyngeal carcinomaEnrichmentNFKBIA, TP533.53
52Immunodeficiency 44EnrichmentIFNAR2, STAT23.53
53T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD3D, CD3E3.53
54Human immunodeficiency virus type 1EnrichmentCCL3, CCL5, TLR33.50
55Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.47
56Pediatric systemic lupus erythematosusEnrichmentIRAK1, SPP13.47
57Tethered spinal cord syndromeEnrichmentBRAF, CREBBP3.44
58Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.44
59High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC3.44
60MyxofibrosarcomaEnrichmentCREB3L1, CREB3L23.44
61Lynch syndromeEnrichmentKRAS, PIK3CA, TGFBR23.25
62Rare genetic intellectual disabilityEnrichmentCREBBP, DDX3X, EP3003.25
63HemimegalencephalyEnrichmentAKT3, PIK3CA3.25
64Small cell cancer of the lungEnrichmentTP53, TP733.23
65Anemia, autoimmune hemolyticEnrichmentSOCS1, TLR83.17
66Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.14
67Aortic aneurysmEnrichmentSMAD3, TGFBR13.14
68Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.14
69Behcet syndromeEnrichmentFAS, IL12A, TLR43.07
70Gastric cancerEnrichmentCDK4, IL1B, PIK3CA, TP533.06
71Breast cancerEnrichmentCASP8, IL2, JUN, PIK3CA, TP533.03
72Arteriovenous malformations of the brainEnrichmentBRAF, IL6, KRAS2.94
73Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR22.94
74Hepatocellular carcinomaEnrichmentCASP8, PIK3CA, TP532.88
75Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.75
76Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.75
77Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA2.75
78Rheumatoid arthritisEnrichmentIRF5, TLR12.70
79Primary biliary cholangitisEnrichmentIL12A, IRF52.70
80Cowden syndromeEnrichmentAKT1, PIK3CA2.70
81Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.69
82Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB2.69
83Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB2.69
84Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.61
85MyelofibrosisEnrichmentJAK2, SRC2.60
86Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.60
87Lymphoma, non-hodgkin, familialEnrichmentBRAF, CASP102.48
88Aicardi-goutiares syndromeEnrichmentADAR, IFIH12.46
89Myeloma, multipleEnrichmentBRAF, CREBBP, KRAS, PIK3R22.46
90MeningiomaEnrichmentAKT1, PIK3CA2.45
91Leukemia, chronic lymphocyticEnrichmentCCND1, TP532.37
92Aicardi-goutieres syndromeEnrichmentADAR, IFIH12.37
93Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM1, TBK12.32
94Immune deficiency diseaseEnrichmentRIPK1, SYK2.23
95Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B2.14
96Nk-cell enteropathyEnrichmentJAK3, PIK3CB2.14
97Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS2.12
98MacrodactylyEnrichmentPIK3CA2.12
99Proteus syndromeEnrichmentAKT12.12
100Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.12
101Leprosy 3EnrichmentTLR22.12
102Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.12
103Incontinentia pigmentiEnrichmentIKBKG2.12
104Legionnaire diseaseEnrichmentTLR52.12
105Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.12
106Immunodeficiency 68EnrichmentMYD882.12
107Caspase 8 deficiencyEnrichmentCASP82.12
108Macroglobulinemia, waldenstrom 1EnrichmentMYD882.12
109Melorheostosis, isolatedEnrichmentMAP2K12.12
110Megalencephaly, autosomal dominantEnrichmentPIK3CA2.12
111Immunodeficiency 83 viral infectionsEnrichmentTLR32.12
112Cowden syndrome 5EnrichmentPIK3CA2.12
113Immunodeficiency 39 viral infectionsEnrichmentIRF72.12
114Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.12
115Bacteremia 1EnrichmentTIRAP2.12
116Leprosy 5EnrichmentTLR12.12
117Fetal encasement syndromeEnrichmentCHUK2.12
118Encephalopathy, acute, infection-induced 7EnrichmentIRF32.12
119Frontometaphyseal dysplasia 2EnrichmentMAP3K72.12
120Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.12
121Encephalopathy, acute, infection-induced 6EnrichmentTICAM12.12
122Cerebral cavernous malformations 4EnrichmentPIK3CA2.12
123Immunodeficiency 15bEnrichmentIKBKB2.12
124Noonan syndrome 13EnrichmentMAPK12.12
125Immunodeficiency 106 viral infectionsEnrichmentIFNAR12.12
126Immunodeficiency 15aEnrichmentIKBKB2.12
127Short syndromeEnrichmentPIK3R12.12
128Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR72.12
129Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.12
130Systemic lupus erythematosus 1EnrichmentTLR52.12
131X-linked immunodeficiency 74EnrichmentTLR72.12
132Immunodeficiency 132aEnrichmentTRAF32.12
133Immunodeficiency 132bEnrichmentTRAF32.12
134Systemic lupus erythematosus 17EnrichmentTLR72.12
135Immunodeficiency 39EnrichmentIRF72.12
136Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.12
137Systemic lupus erythematosus 10EnrichmentIRF52.12
138Hemifacial myohyperplasiaEnrichmentPIK3CA2.12
139Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.12
140Immunodeficiency with hyper-igm, type 3EnrichmentCD402.12
141MelorheostosisEnrichmentMAP2K12.12
142Immunodeficiency 67EnrichmentIRAK42.12
143Immunodeficiency 31aEnrichmentSTAT12.12
144Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.12
145Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.12
146Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD2.12
147Immunodeficiency 29EnrichmentIL12B2.12
148Cowden syndrome 6EnrichmentAKT12.12
149MelioidosisEnrichmentTLR52.12
150Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.12
151Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.12
152Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.12
153Macular degeneration, age-related, 10EnrichmentTLR42.12
154Immunodeficiency 31bEnrichmentSTAT12.12
155Autoinflammation with arthritis and vasculitisEnrichmentTBK12.12
156Inflammatory bowel disease 14EnrichmentIRF52.12
157Corticobasal syndromeEnrichmentTBK12.12
158Bartsocas-papas syndrome 2EnrichmentCHUK2.12
159Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK12.12
160Encephalopathy, acute, infection-induced 8EnrichmentTBK12.12
161Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.12
162HypospadiasEnrichmentPIK3CA2.12
163Capillary hemangiomaEnrichmentAKT32.12
164Rare venous malformationEnrichmentPIK3CA2.12
165Diaphragmatic eventrationEnrichmentPIK3CA2.12
166Waldenstram macroglobulinemiaEnrichmentMYD882.12
167Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.12
168Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.12
169Rare combined vascular malformationEnrichmentPIK3CA2.12
170Cavernous lymphangiomaEnrichmentPIK3CA2.12
171Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.12
172Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.12
173Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.12
174Eccrine angiomatous hamartomaEnrichmentPIK3CA2.12
175Macrodactyly of toeEnrichmentPIK3CA2.12
176Polyvalvular heart disease syndromeEnrichmentTAB22.12
177Akt2-related familial partial lipodystrophyEnrichmentAKT22.12
178Aortic valve disease 1EnrichmentSMAD6, TAB22.09
179Leukemia, acute myeloidEnrichmentJAK2, KRAS, NRAS2.01
180Type 1 diabetes mellitus 10EnrichmentIL2RA2.00
181Immunodeficiency 50EnrichmentMSN2.00
182Immunodeficiency 35EnrichmentTYK22.00
183Melanoma, cutaneous malignant 3EnrichmentCDK42.00
184Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND22.00
185Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.00
186Singleton-merten syndrome 1EnrichmentIFIH12.00
187Ciliary dyskinesia, primary, 47, and lissencephalyEnrichmentTP732.00
188Pseudo-torch syndrome 3EnrichmentSTAT22.00
189Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.00
190Immunodeficiency 95EnrichmentIFIH12.00
191Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB2.00
192Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK22.00
193Bone marrow failure syndrome 5EnrichmentTP532.00
194Papilloma of choroid plexusEnrichmentTP532.00
195Basal cell carcinoma 7EnrichmentTP532.00
196Type 1 diabetes mellitus 19EnrichmentIFIH12.00
197Leukoencephalopathy, motor delay, spasticity, and dysarthria syndromeEnrichmentEIF2AK12.00
198Anaplastic thyroid carcinomaEnrichmentTP532.00
199T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.00
200Immunodeficiency 18EnrichmentCD3E2.00
201Thrombocytopenia 4EnrichmentCYCS2.00
202Neuroendocrine tumorEnrichmentCDKN1B2.00
203Dengue virusEnrichmentCD2092.00
204Hemolytic uremic syndrome, atypical 2EnrichmentCD462.00
205Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD282.00
206Ectodermal dysplasia-syndactyly syndrome 1EnrichmentNECTIN42.00
207Ductal carcinoma in situEnrichmentTP532.00
208Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaEnrichmentOAS12.00
209Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.00
210Singleton-merten syndrome 2EnrichmentRIGI2.00
211Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.00
212Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.00
213Dystonia 33EnrichmentEIF2AK22.00
214Immunodeficiency 65 viral infectionsEnrichmentIRF92.00
215Thyroid gland undifferentiated carcinomaEnrichmentTP532.00
216Immunodeficiency 19, severe combinedEnrichmentCD3D2.00
217Aicardi-goutieres syndrome 7EnrichmentIFIH12.00
218Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.00
219T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK32.00
220Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP32.00
221Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.00
222Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.00
223Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.00
224Choroid plexus cancerEnrichmentTP532.00
225Immunodeficiency 19EnrichmentCD3D2.00
226Pleomorphic xanthoastrocytomaEnrichmentTP532.00
227Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaEnrichmentOAS12.00
228Adar-related hereditary spastic paraplegiaEnrichmentADAR2.00
229Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.00
230Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.00
231Lung cancer susceptibility 3EnrichmentBRAF, KRAS1.99
23246,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS11.99
233Paget disease of bone 3EnrichmentSQSTM11.97
234Polyglucosan body myopathy 1 with or without immunodeficiencyEnrichmentRBCK11.97
235Radioulnar synostosis, nonsyndromicEnrichmentSMAD61.97
236Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM11.97
237Immunodeficiency 82 with systemic inflammationEnrichmentSYK1.97
238Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM11.97
239Isolated growth hormone deficiency type iiiEnrichmentBTK1.97
240Multiple congenital anomalies-neurodevelopmental syndrome, x-linkedEnrichmentOTUD51.97
241Asthma-related traits 5EnrichmentIRAK31.97
242Immunodeficiency 115 with autoinflammationEnrichmentRNF311.97
243Mannose-binding lectin deficiencyEnrichmentMBL21.97
244ColitisEnrichmentSYK1.97
245Vegetative pyoderma gangrenosumEnrichmentPTPN61.97
246Bullous pyoderma gangrenosumEnrichmentPTPN61.97
247Pustular pyoderma gangrenosumEnrichmentPTPN61.97
248Classic pyoderma gangrenosumEnrichmentPTPN61.97
249GliosarcomaEnrichmentNFKBIA, TP531.96
250Oculoectodermal syndromeEnrichmentKRAS1.95
251Pallister-killian syndromeEnrichmentARAF1.95
252Noonan syndrome 5EnrichmentRAF11.95
253Noonan syndrome 4EnrichmentSOS11.95
254Charcot-marie-tooth disease, demyelinating, type 1dEnrichmentEGR21.95
255Noonan syndrome 7EnrichmentBRAF1.95
256Leopard syndrome 3EnrichmentBRAF1.95
257Cardiomyopathy, dilated, 1nnEnrichmentRAF11.95
258Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.95
259Melanosis, neurocutaneousEnrichmentNRAS1.95
260Noonan syndrome 9EnrichmentSOS21.95
261Noonan syndrome 6EnrichmentNRAS1.95
262Osteogenesis imperfecta, type xviEnrichmentCREB3L11.95
26346,xy sex reversal 6EnrichmentMAP3K11.95
264Corpus callosum, agenesis of, with facial anomalies and robin sequenceEnrichmentDDX3X1.95
265Hypertriglyceridemia 2EnrichmentCREB3L31.95
266White-kernohan syndromeEnrichmentDDB11.95
267Disabling pansclerotic morphea of childhoodEnrichmentSTAT41.95
268Intellectual developmental disorder, x-linked, syndromic, snijders blok typeEnrichmentDDX3X1.95
269Systemic lupus erythematosus 11EnrichmentSTAT41.95
270Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.95
271Hypercholanemia, familial, 2EnrichmentSLC10A11.95
272LymphangiomaEnrichmentBRAF1.95
273Camurati-engelmann disease 2EnrichmentTGFB21.95
274Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.95
275Phace associationEnrichmentBRAF1.95
276Spinocerebellar ataxia 14EnrichmentPRKCG1.95
277Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.95
278Leopard syndrome 2EnrichmentRAF11.95
279Ataxia-telangiectasia-like disorder 2EnrichmentPCNA1.95
280Loeys-dietz syndrome 6EnrichmentSMAD21.95
281Loeys-dietz syndrome 5EnrichmentTGFB31.95
282Thrombocytopenia 6EnrichmentSRC1.95
283Ddx3x-related neurodevelopmental disorderEnrichmentDDX3X1.95
284Menke-hennekam syndrome 1EnrichmentCREBBP1.95
285TrigonitisEnrichmentRAF11.95
286Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.95
287Heritable thoracic aortic diseaseEnrichmentSMAD41.95
288Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.95
289Charcot-marie-tooth disease type 1dEnrichmentEGR21.95
290Congenital pulmonary airway malformationEnrichmentKRAS1.95
291Syringocystadenoma papilliferumEnrichmentBRAF1.95
292Menke-hennekam syndromeEnrichmentCREBBP1.95
293GangliogliomaEnrichmentBRAF1.95
294Nongerminomatous germ cell tumorEnrichmentBRAF1.95
295Phace syndromeEnrichmentBRAF1.95
296Phakomatosis pigmentokeratoticaEnrichmentHRAS1.95
297Classic hairy cell leukemiaEnrichmentBRAF1.95
298Neurocutaneous melanocytosisEnrichmentNRAS1.95
299X-linked intellectual disability-hypotonia-movement disorder syndromeEnrichmentDDX3X1.95
300Giant cell glioblastomaEnrichmentNFKBIA, TP531.91
301Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA1.89
302Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.82
303Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.82
304Keratosis, seborrheicEnrichmentPIK3CA1.82
305Roifman-chitayat syndromeEnrichmentPIK3CD1.82
306Immunodeficiency 45EnrichmentIFNAR21.82
307Noonan syndrome 8EnrichmentPIK3CA1.82
308Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.82
309Immunodeficiency 31cEnrichmentSTAT11.82
310Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.82
311Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.82
312Immunodeficiency 127EnrichmentTNF1.82
313Rela fusion-positive ependymomaEnrichmentRELA1.82
314Senior-loken syndrome 7EnrichmentAKT31.82
315Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.82
316Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentTBK11.82
317Leprosy 1EnrichmentTLR61.82
318Congenital dyserythropoietic anemiaEnrichmentIRAK41.82
319Congenital heart defects, multiple types, 2EnrichmentTAB21.82
320Immune system diseaseEnrichmentPIK3CD1.82
321Bardet-biedl syndrome 16EnrichmentAKT31.82
322Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.82
323Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.82
324Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndromeEnrichmentTAB21.82
325Common variable immunodeficiency 12EnrichmentNFKB11.82
326Tafro syndromeEnrichmentMAP2K21.82
327Oculootodental syndromeEnrichmentFADD1.82
328Heart, malformation ofEnrichmentMAPK1, SMAD61.81
329ThrombocytopeniaEnrichmentCYCS, SMAD4, SRC1.79
330Adrenocortical carcinoma, hereditaryEnrichmentTP531.70
331Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.70
332Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.70
333Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentEIF2AK41.70
334Cervical cancerEnrichmentTP531.70
335Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.70
336Dyschromatosis symmetrica hereditariaEnrichmentADAR1.70
337Pulmonary venoocclusive disease 2, autosomal recessiveEnrichmentEIF2AK41.70
338Lymphoma, hodgkin, classicEnrichmentTP531.70
339Immunodeficiency, common variable, 10EnrichmentNFKB21.70
340Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP31.70
341Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.70
342Aicardi-goutieres syndrome 6EnrichmentADAR1.70
343Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.70
344Autoimmune disease, multisystem, infantile-onset, 3EnrichmentCBLB1.70
345Pulmonary venoocclusive disease 1EnrichmentEIF2AK41.70
346Pulmonary venoocclusive disease 2EnrichmentEIF2AK41.70
347Intravascular large b-cell lymphomaEnrichmentBCL21.70
348Leukodystrophy, hypomyelinating, 17EnrichmentEIF2AK11.70
349Congenital fibrosarcomaEnrichmentTP531.70
350Li-fraumeni syndrome 1EnrichmentTP531.70
351SarcomaEnrichmentTP531.70
352Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.70
353Immunodeficiency 17EnrichmentCD3G1.70
354Cervix carcinomaEnrichmentTP531.70
355Hodgkin's lymphomaEnrichmentTP531.70
356Lymphomatoid papulosisEnrichmentTYK21.70
357Basal ganglia diseaseEnrichmentIFIH11.70
358Pulmonary venoocclusive diseaseEnrichmentEIF2AK41.70
359Symmetrical dyschromatosis of extremitiesEnrichmentADAR1.70
360Pleomorphic rhabdomyosarcomaEnrichmentTP531.70
361Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.70
362Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK21.70
363Cylindromatosis, familialEnrichmentCYLD1.67
364Gordon holmes syndromeEnrichmentRNF2161.67
365Trichoepithelioma, multiple familial, 1EnrichmentCYLD1.67
366Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.67
367Welander distal myopathyEnrichmentSQSTM11.67
368Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.67
369Agammaglobulinemia, x-linkedEnrichmentBTK1.67
370Frontotemporal dementia and/or amyotrophic lateral sclerosis 8EnrichmentCYLD1.67
371Brooke-spiegler syndromeEnrichmentCYLD1.67
372Aortic valve disease 2EnrichmentSMAD61.67
373Paget's disease of boneEnrichmentSQSTM11.67
374Hao-fountain syndromeEnrichmentUSP71.67
375Craniosynostosis 7EnrichmentSMAD61.67
376Radioulnar synostosisEnrichmentSMAD61.67
377ArthritisEnrichmentSYK1.67
378Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM11.67
379Burkitt lymphomaEnrichmentMYC1.65
380Fibromatosis, gingival, 1EnrichmentSOS11.65
381Myhre syndromeEnrichmentSMAD41.65
382Camurati-engelmann disease 1EnrichmentTGFB11.65
383Costello syndromeEnrichmentHRAS1.65
384Thumb deformityEnrichmentCREBBP1.65
385Xeroderma pigmentosum, complementation group eEnrichmentDDB21.65
386Histiocytoma, angiomatoid fibrousEnrichmentCREB11.65
387Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.65
388Microvascular complications of diabetes 5EnrichmentTGFBR21.65
389Neuropathy, congenital hypomyelinating, 1, autosomal recessiveEnrichmentEGR21.65
390Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.65
391Schwartz-jampel syndrome, type 1EnrichmentHSPG21.65
392Thrombocythemia 3EnrichmentJAK21.65
393Loeys-dietz syndrome 3EnrichmentSMAD31.65
394Menke-hennekam syndrome 2EnrichmentEP3001.65
395Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.65
396Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.65
397Camurati-engelmann diseaseEnrichmentTGFB11.65
398Metaphyseal anadysplasia 2EnrichmentMMP91.65
399PolycythemiaEnrichmentJAK21.65
400Metaphyseal anadysplasiaEnrichmentMMP91.65
401Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.65
402Transient infantile hypertriglyceridemia and hepatosteatosisEnrichmentCREB3L31.65
403Hypereosinophilic syndromeEnrichmentJAK21.65
404Xeroderma pigmentosum group eEnrichmentDDB21.65
405Wooly hair nevusEnrichmentHRAS1.65
406Pelvic organ prolapseEnrichmentTAB21.65
407Takayasu arteritisEnrichmentIL12B1.65
408Pompe disease, infantile-onsetEnrichmentPIK3CA1.65
409Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentTLR81.65
410Psoriatic arthritisEnrichmentTNF1.65
411Frontometaphyseal dysplasiaEnrichmentMAP3K71.65
412Migraine without auraEnrichmentTNF1.65
413KeratoacanthomaEnrichmentPIK3CA1.65
414Ovarian cancerEnrichmentAKT1, KRAS, MAP3K1, PIK3CA1.58
415Precursor t-cell acute lymphoblastic leukemiaEnrichmentDDX3X, MYC1.57
416Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.53
417Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.53
418Prognathism, mandibularEnrichmentCSNK2B1.53
419Mycosis fungoidesEnrichmentCD281.53
420Pelizaeus-merzbacher diseaseEnrichmentRAB9B1.53
421Menkes diseaseEnrichmentEIF2AK31.53
422Severe combined immunodeficiency, x-linkedEnrichmentIL2RG1.53
423Spastic paraplegia 2, x-linkedEnrichmentRAB9B1.53
424Osteogenic sarcomaEnrichmentTP531.53
425Combined immunodeficiency, x-linkedEnrichmentIL2RG1.53
426Hyper ige syndromeEnrichmentSTAT31.53
427Dedifferentiated liposarcomaEnrichmentCDK41.53
428Torsion dystonia 1EnrichmentEIF2AK21.53
429Atypical teratoid rhabdoid tumorEnrichmentTP531.53
430Anaplastic astrocytomaEnrichmentTP531.53
431Squamous cell carcinomaEnrichmentTP531.53
432T-cell acute lymphoblastic leukemiaEnrichmentBAX1.53
433AdenocarcinomaEnrichmentTP531.53
434Bone osteosarcomaEnrichmentTP531.53
435Respiratory failureEnrichmentTP731.53
436Pelizeaus-merzbacher spectrum disorderEnrichmentRAB9B1.53
437Well-differentiated liposarcomaEnrichmentCDK41.53
438Genetic atypical hemolytic-uremic syndromeEnrichmentCD461.53
439Vogt-koyanagi-harada diseaseEnrichmentFAS1.53
440Saczary syndromeEnrichmentCD281.53
441Kaposi sarcomaEnrichmentIL61.52
442Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.52
443Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.52
444Congenital generalized lipodystrophyEnrichmentFOS1.52
445Hepatitis bEnrichmentIFNAR21.52
446Cerebrovascular diseaseEnrichmentPIK3CA1.52
447Familial cerebral cavernous malformationsEnrichmentPIK3CA1.52
448Cerebral malariaEnrichmentTNF1.52
449Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.52
450Pancreatic cancerEnrichmentKRAS, SMAD41.51
451Glycogen storage disease ivEnrichmentRBCK11.50
452Immune thrombocytopeniaEnrichmentSOCS11.50
453Neurodegeneration with brain iron accumulation 5EnrichmentOTUD51.50
454Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.50
455Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.50
456Folate malabsorption, hereditaryEnrichmentSARM11.50
457Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.50
458Agammaglobulinemia 1EnrichmentBTK1.50
459Bacteremia 2EnrichmentCISH1.50
460Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalitiesEnrichmentZMYND111.50
461Ataxia-telangiectasiaEnrichmentBRAF1.48
462Juvenile polyposis syndromeEnrichmentSMAD41.48
463Dyssegmental dysplasia, silverman-handmaker typeEnrichmentHSPG21.48
464Polycythemia veraEnrichmentJAK21.48
465Nuchal bleb, familialEnrichmentSOS11.48
466Intraocular pressure quantitative trait locusEnrichmentCREBBP1.48
467Charcot-marie-tooth disease type 1EnrichmentEGR21.48
468SpermatocytomaEnrichmentHRAS1.48
469Melanoma of soft tissueEnrichmentCREB11.48
470Prostate cancerEnrichmentPIK3CA, TP531.47
471Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.43
472Capillary malformations, congenitalEnrichmentPIK3CA1.43
473Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.43
474Rheumatoid arthritis, systemic juvenileEnrichmentIL61.43
475Histiocytoid hemangiomaEnrichmentFOS1.43
476Vascular dementiaEnrichmentTNF1.43
477Diffuse cutaneous systemic sclerosisEnrichmentIRF51.43
478Thyroid cancer, nonmedullary, 1EnrichmentTP531.40
479Immunodeficiency, common variable, 1EnrichmentNFKB21.40
480Mantle cell lymphomaEnrichmentCCND11.40
481EnophthalmosEnrichmentCSNK2B1.40
482SyndactylyEnrichmentCSNK2B1.40
483Lung sarcomatoid carcinomaEnrichmentTP531.40
484Embryonal rhabdomyosarcomaEnrichmentTP531.40
485Hellp syndromeEnrichmentCD461.40
486Adenosine deaminase deficiencyEnrichmentJAK31.40
487Primary hyperparathyroidismEnrichmentCDKN1B1.40
488Thrombotic microangiopathyEnrichmentCD461.40
489Familial infantile bilateral striatal necrosisEnrichmentADAR1.40
490Type 2 diabetes mellitusEnrichmentAKT2, IL61.39
491Severe covid-19EnrichmentCASP10, JAK31.39
492Paget disease of bone 2, early-onsetEnrichmentSQSTM11.38
493TuberculosisEnrichmentCISH1.38
494Paget's disease of bone 2EnrichmentSQSTM11.38
495Erythrocytosis, familial, 1EnrichmentJAK21.36
496Hypertriglyceridemia 1EnrichmentCREB3L31.36
497Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.36
498Budd-chiari syndromeEnrichmentJAK21.36
499Hereditary ataxiaEnrichmentPRKCG1.36
500CraniopharyngiomaEnrichmentBRAF1.36
501Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.36
502Pilocytic astrocytomaEnrichmentKRAS1.36
503Newborn respiratory distress syndromeEnrichmentBRAF1.36
504Epidermolytic nevusEnrichmentHRAS1.36
505Gingival fibromatosisEnrichmentSOS11.36
506Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.36
507Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.35
508Cowden syndrome 1EnrichmentPIK3CA1.35
509Hemihyperplasia, isolatedEnrichmentPIK3CA1.35
510Type 1 diabetes mellitusEnrichmentIL61.35
511Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK11.35
512Chronic mucocutaneous candidiasisEnrichmentSTAT11.35
513Limited sclerodermaEnrichmentIRF51.35
514Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK11.35
515Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.33
516Connective tissue diseaseEnrichmentSMAD3, TGFBR21.31
517Von hippel-lindau syndromeEnrichmentCCND11.31
518Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.31
519Rhabdomyosarcoma 2EnrichmentTP531.31
520Follicular lymphomaEnrichmentBCL21.31
521Spastic diplegiaEnrichmentIFIH11.31
522LymphomaEnrichmentTP531.31
523Acute megakaryocytic leukemiaEnrichmentTP531.31
524Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.31
525Motor neuron diseaseEnrichmentTBK11.28
526MegacolonEnrichmentAKT31.28
527Overgrowth syndromeEnrichmentPIK3R11.28
528Hypertrophic neuropathy of dejerine-sottasEnrichmentEGR21.26
529Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.26
530Rubinstein-taybi syndrome 2EnrichmentEP3001.26
531Myeloproliferative neoplasmEnrichmentJAK21.26
532Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.26
533Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.26
534Li-fraumeni syndromeEnrichmentTP531.23
535Adrenocortical carcinomaEnrichmentTP531.23
536Atypical hemolytic uremic syndrome with complement gene abnormalityEnrichmentCD461.23
537Lennox-gastaut syndromeEnrichmentMAPK101.23
538Dilated cardiomyopathyEnrichmentBRAF, RAF1, TAB21.22
539Atrial septal defect 1EnrichmentTGFB21.19
540Wilms tumor 5EnrichmentBRAF1.19
541HypertrichosisEnrichmentCREBBP1.19
542Classic ehlers-danlos syndromeEnrichmentTGFBR11.19
543Familial hypercholanemiaEnrichmentSLC10A11.19
544Inflammatory bowel disease 1EnrichmentIL61.18
545Coronary heart disease 5EnrichmentIKBKG1.18
546Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.18
547Progressive non-fluent aphasiaEnrichmentTBK11.18
548Esophageal cancerEnrichmentTP531.17
549Multiple endocrine neoplasia, type iEnrichmentCDKN1B1.17
550Squamous cell carcinoma, head and neckEnrichmentTP531.17
551Essential thrombocythemiaEnrichmentTP531.17
552B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.17
553Ciliary dyskinesia, primary, 3EnrichmentNFKB11.13
554PolymicrogyriaEnrichmentAKT31.13
555Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.12
556Glioma susceptibility 1EnrichmentTP531.11
557Permanent neonatal diabetes mellitusEnrichmentSTAT31.11
558Migraine with or without aura 1EnrichmentTAB21.09
559AsthmaEnrichmentTNF1.09
560Specific learning disabilityEnrichmentMAPK11.09
561Immunodeficiency 47EnrichmentATP6AP11.07
562Primary hyperaldosteronismEnrichmentTP531.06
563PolydactylyEnrichmentSMAD61.04
564Behavioral variant of frontotemporal dementiaEnrichmentSQSTM11.04
565Alzheimer's diseaseEnrichmentTNF1.03
566Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.02
567Charge syndromeEnrichmentEP3001.02
568Leukemia, acute lymphoblastic 3EnrichmentJAK21.02
569Ventricular septal defectEnrichmentBRAF1.02
570Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.02
571Omenn syndromeEnrichmentIL2RG1.02
572Familial colorectal cancerEnrichmentTP531.02
573Myelodysplastic syndromeEnrichmentTP530.98
574Combined immunodeficiencyEnrichmentIL2RG0.98
575IchthyosisEnrichmentIL2RB0.98
576Combined t cell and b cell immunodeficiencyEnrichmentIL2RG0.98
577Heritable pulmonary arterial hypertensionEnrichmentEIF2AK40.98
578Combined t and b cell immunodeficiencyEnrichmentIL2RG0.98
579MelanomaEnrichmentBRAF0.97
580Pectus excavatumEnrichmentTGFBR10.94
581Xeroderma pigmentosum, variant typeEnrichmentDDB20.94
58246,xy complete gonadal dysgenesisEnrichmentMAP3K10.94
583Pulmonary hypertension, primary, 1EnrichmentEIF2AK40.91
584Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.90
585Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.90
586Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentSQSTM1, TBK10.89
587Patent foramen ovaleEnrichmentTAB20.89
588Chromosome 1p36 deletion syndromeEnrichmentHSPG20.87
589Protein-deficiency anemiaEnrichmentNRAS0.87
590Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentRNF2160.85
591Aortic aneurysm, familial thoracic 1EnrichmentSMAD60.85
592Atypical hemolytic-uremic syndromeEnrichmentCD460.85
593OsteoporosisEnrichmentSRC0.84
594Heart diseaseEnrichmentCREBBP0.84
595Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.84
596Inherited cancer-predisposing syndromeEnrichmentCDK4, CDKN1B, TP530.83
597Endometrial cancerEnrichmentPIK3CA0.83
598RhabdomyosarcomaEnrichmentTP530.83
599Polydactyly, postaxial, type a1EnrichmentEP3000.81
600Wilms tumor 1EnrichmentBRAF0.81
601Corpus callosum, agenesis ofEnrichmentCREBBP0.81
602Osteogenesis imperfecta, type iiiEnrichmentCREB3L10.81
603Isolated corpus callosum agenesisEnrichmentCREBBP0.81
604Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.81
605Melanoma, cutaneous malignant 1EnrichmentCDK40.80
606MicrocephalyEnrichmentDDX3X, EP300, MAPK10.80
607Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentDDX3X0.78
608Interstitial lung disease 2EnrichmentSFTPA20.78
609Dandy-walker syndromeEnrichmentBRAF0.76
610Charcot-marie-tooth disease type 4EnrichmentEGR20.74
611HepatoblastomaEnrichmentTP530.72
612LeukodystrophyEnrichmentRNF2160.71
613CraniosynostosisEnrichmentSMAD60.71
614Diamond-blackfan anemia 1EnrichmentTP530.68
615Cardiomyopathy, dilated, 1aEnrichmentNFATC20.68
616Brittle bone disorderEnrichmentCREB3L10.64
617Auditory neuropathyEnrichmentRAB9B0.64
618Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.63
619ScoliosisEnrichmentCREBBP0.63
620Hydrops fetalis, nonimmuneEnrichmentHRAS0.60
621Primary autosomal recessive microcephalyEnrichmentCDK60.56
622Cystic fibrosisEnrichmentMBL20.54
623Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B0.52
624Diamond-blackfan anemiaEnrichmentTP530.52
625Familial hypertrophic cardiomyopathyEnrichmentRAF10.51
626Left ventricular noncompactionEnrichmentRAF10.49
627HypertelorismEnrichmentPIK3CA0.48
628Non-syndromic x-linked intellectual disabilityEnrichmentATP6AP10.48
629Hereditary breast ovarian cancer syndromeEnrichmentRIPK10.46
630Hereditary spastic paraplegiaEnrichmentRAB9B0.46
631Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B0.40
632Familial isolated dilated cardiomyopathyEnrichmentRAF10.35
633Primary ovarian insufficiencyEnrichmentJAK20.32
634AutismEnrichmentCREBBP0.26
635Congenital nervous system abnormalityEnrichmentCREBBP0.16
636Nervous system diseaseEnrichmentCREBBP0.16
637Complex neurodevelopmental disorderEnrichmentCSNK2A10.15

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