Ebola virus infection in host

No Pathway Network information available for Ebola virus infection in host

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

Disorders associated with Ebola virus infection in host SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB14.05
2Niemann-pick disease, type c2EnrichmentNPC1, NPC24.05
3Severe cutaneous adverse reactionEnrichmentHLA-A, HLA-B4.05
4Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB14.05
5Immune system diseaseEnrichmentCDC42, PIK3CD4.05
6Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.05
7Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB14.05
8Niemann-pick disease type c, severe perinatal formEnrichmentNPC1, NPC24.05
9Niemann-pick disease type c, severe early infantile neurologic onsetEnrichmentNPC1, NPC24.05
10Niemann-pick disease type c, juvenile neurologic onsetEnrichmentNPC1, NPC24.05
11Niemann-pick disease type c, adult neurologic onsetEnrichmentNPC1, NPC24.05
12Niemann-pick disease type c, late infantile neurologic onsetEnrichmentNPC1, NPC24.05
13Nk-cell enteropathyEnrichmentAXL, IGF1R, PIK3CB3.65
14Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.57
15Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.57
16Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.57
17Neonatal inflammatory skin and bowel diseaseEnrichmentADAM17, EGFR3.57
18Temporal arteritisEnrichmentHLA-B, HLA-DRB13.27
19Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.27
20Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB13.27
21Niemann-pick disease, type c1EnrichmentNPC1, NPC23.06
22Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB13.06
23Niemann-pick diseaseEnrichmentNPC1, NPC23.06
24Diffuse cutaneous systemic sclerosisEnrichmentCAV1, HLA-DRB13.06
25MicrocephalyEnrichmentACTB, ACTG1, EP300, IGF1R, MAPK1, NPC22.95
26Cowden syndrome 1EnrichmentEGFR, PIK3CA2.88
27Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.88
28Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA2.88
29Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.88
30Granulomatosis with polyangiitisEnrichmentHLA-DPA1, HLA-DPB12.88
31Limited sclerodermaEnrichmentCAV1, HLA-DRB12.88
32Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGB32.88
33Breast adenocarcinomaEnrichmentAKT1, PIK3CA2.88
34Lung squamous cell carcinomaEnrichmentEGFR, PIK3CA2.88
35Common variable immunodeficiencyEnrichmentNFKB1, NFKB22.74
36Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB12.62
37Severe covid-19EnrichmentHLA-A, HLA-DQB1, ITGAV2.59
38Cowden syndromeEnrichmentAKT1, PIK3CA2.51
39Cat eye syndromeEnrichmentACTG1, TFAP2A2.42
40Autosomal dominant macrothrombocytopeniaEnrichmentACTN1, ITGB32.42
41Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.42
42Lung non-small cell carcinomaEnrichmentEGFR, PIK3CA2.33
43MeningiomaEnrichmentAKT1, PIK3CA2.25
44Lip and oral cavity carcinomaEnrichmentEGFR, PIK3CA2.25
45Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB12.12
46Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.06
47Colorectal cancerEnrichmentAKT1, EP300, PIK3CA, PIK3R12.02
48Keratolytic winter erythemaEnrichmentCTSB2.02
49MacrodactylyEnrichmentPIK3CA2.02
50Boomerang dysplasiaEnrichmentFLNB2.02
51Proteus syndromeEnrichmentAKT12.02
52Spondyloarthropathy 1EnrichmentHLA-B2.02
53Baraitser-winter syndrome 1EnrichmentACTB2.02
54Focal segmental glomerulosclerosis 1EnrichmentACTN42.02
55Otopalatodigital syndrome, type iEnrichmentFLNA2.02
56Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA2.02
57Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.02
58Psoriasis 1EnrichmentHLA-C2.02
59Megalencephaly, autosomal dominantEnrichmentPIK3CA2.02
60Amyloidosis, finnish typeEnrichmentGSN2.02
61Dermatitis, atopic, 4EnrichmentSOCS32.02
62Atelosteogenesis, type iiiEnrichmentFLNB2.02
63Atelosteogenesis, type iEnrichmentFLNB2.02
64Cowden syndrome 5EnrichmentPIK3CA2.02
65Immunodeficiency 39 viral infectionsEnrichmentIRF72.02
66Encephalopathy, acute, infection-induced 7EnrichmentIRF32.02
67Pulmonary hypertension, primary, 3EnrichmentCAV12.02
68Cerebral cavernous malformations 4EnrichmentPIK3CA2.02
69Noonan syndrome 13EnrichmentMAPK12.02
70Immunodeficiency 92EnrichmentREL2.02
71Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP2.02
72Terminal osseous dysplasiaEnrichmentFLNA2.02
73Charcot-marie-tooth disease, axonal, type 2bEnrichmentRAB7A2.02
74Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK22.02
75Short syndromeEnrichmentPIK3R12.02
76Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.02
77Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.02
78Fg syndrome 2EnrichmentFLNA2.02
79Charcot-marie-tooth disease type 2bEnrichmentRAB7A2.02
80Immunodeficiency 39EnrichmentIRF72.02
81Ankylosing spondylitis 1EnrichmentHLA-B2.02
82Lipodystrophy, familial partial, type 7EnrichmentCAV12.02
83Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB12.02
84Skin/hair/eye pigmentation, variation in, 10EnrichmentTPCN22.02
85Hemifacial myohyperplasiaEnrichmentPIK3CA2.02
86Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.02
87Otopalatodigital syndrome spectrum disorderEnrichmentFLNA2.02
88Becker nevus syndromeEnrichmentACTB2.02
89Neurodegeneration due to cerebral folate transport deficiencyEnrichmentFOLR12.02
90Birdshot chorioretinopathyEnrichmentHLA-A2.02
91Dystonia-deafness syndrome 1EnrichmentACTB2.02
92Immunodeficiency 31aEnrichmentSTAT12.02
93Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.02
94Cowden syndrome 6EnrichmentAKT12.02
95Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.02
96Bleeding disorder, platelet-type, 15EnrichmentACTN12.02
97Dengue virusEnrichmentCD2092.02
98Mannose-binding lectin deficiencyEnrichmentMBL22.02
99Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.02
100Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.02
101Macular degeneration, age-related, 10EnrichmentTLR42.02
102Immunodeficiency 31bEnrichmentSTAT12.02
103Autoinflammation with arthritis and vasculitisEnrichmentTBK12.02
104Leukodystrophy, hypomyelinating, 12EnrichmentVPS112.02
105Reactive arthritisEnrichmentHLA-B2.02
106Singleton-merten syndrome 2EnrichmentRIGI2.02
107T-cell lymphoma, subcutaneous panniculitis-likeEnrichmentHAVCR22.02
108X-linked ehlers-danlos syndromeEnrichmentFLNA2.02
109Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.02
110Takenouchi-kosaki syndromeEnrichmentCDC422.02
111Corticobasal syndromeEnrichmentTBK12.02
112Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.02
113Immunodeficiency 53EnrichmentRELB2.02
114BerylliosisEnrichmentHLA-DPB12.02
115Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.02
116Dystonia 33EnrichmentEIF2AK22.02
117Menke-hennekam syndrome 1EnrichmentCREBBP2.02
118Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM12.02
119Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.02
120Encephalopathy, acute, infection-induced 8EnrichmentTBK12.02
121Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.02
122Baraitser-winter syndromeEnrichmentACTB2.02
123Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.02
124Congenital insensitivity to pain with severe intellectual disabilityEnrichmentCLTCL12.02
125HypospadiasEnrichmentPIK3CA2.02
126Neurodegenerative syndrome due to cerebral folate transport deficiencyEnrichmentFOLR12.02
127Flnb-related disordersEnrichmentFLNB2.02
128Rare venous malformationEnrichmentPIK3CA2.02
129Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.02
130Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.02
131Diaphragmatic eventrationEnrichmentPIK3CA2.02
132Congenital smooth muscle hamartomaEnrichmentACTB2.02
133Nocarh syndromeEnrichmentCDC422.02
134Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.02
135Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.02
136Pulmonary arterial hypertension associated with connective tissue diseaseEnrichmentHLA-B2.02
137Menke-hennekam syndromeEnrichmentCREBBP2.02
138Rare combined vascular malformationEnrichmentPIK3CA2.02
139Cavernous lymphangiomaEnrichmentPIK3CA2.02
140Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.02
141X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA2.02
142Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.02
143Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.02
144Eccrine angiomatous hamartomaEnrichmentPIK3CA2.02
145Macrodactyly of toeEnrichmentPIK3CA2.02
146Human immunodeficiency virus type 1EnrichmentCD209, HLA-C1.91
147Patent foramen ovaleEnrichmentFLNA, FLNC1.91
148Behcet syndromeEnrichmentHLA-B, TLR41.86
149Hyper-igd syndromeEnrichmentVPS411.72
150Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA1.72
151Thumb deformityEnrichmentCREBBP1.72
152Otopalatodigital syndrome, type iiEnrichmentFLNA1.72
153Melnick-needles syndromeEnrichmentFLNA1.72
154Frontometaphyseal dysplasia 1EnrichmentFLNA1.72
155Spinocerebellar ataxia, autosomal recessive 4EnrichmentVPS411.72
156Deafness, autosomal dominant 20EnrichmentACTG11.72
157Keratosis, seborrheicEnrichmentPIK3CA1.72
158Creutzfeldt-jakob diseaseEnrichmentHLA-DQB11.72
159Roifman-chitayat syndromeEnrichmentPIK3CD1.72
160Baraitser-winter syndrome 2EnrichmentACTG11.72
161Sarcoidosis 1EnrichmentHLA-DRB11.72
162Noonan syndrome 8EnrichmentPIK3CA1.72
163Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.72
164Immunodeficiency, common variable, 10EnrichmentNFKB21.72
165Dystonia 16EnrichmentPRKRA1.72
166Immunodeficiency 31cEnrichmentSTAT11.72
167Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.72
168Dystonia 30EnrichmentVPS161.72
169Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.72
170Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.72
171Menke-hennekam syndrome 2EnrichmentEP3001.72
172Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.72
173Stevens-johnson syndromeEnrichmentHLA-B1.72
174Rela fusion-positive ependymomaEnrichmentRELA1.72
175Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.72
176Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.72
177Cardiovascular system diseaseEnrichmentFLNC1.72
178Frontotemporal dementia and/or amyotrophic lateral sclerosis 4EnrichmentTBK11.72
179Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM171.72
180Cimdag syndromeEnrichmentVPS4A1.72
181Dystonia 32EnrichmentVPS111.72
182Retinitis pigmentosa 38EnrichmentMERTK1.72
183EsotropiaEnrichmentTFAP2A1.72
184Singleton-merten syndromeEnrichmentRIGI1.72
185Qualitative or quantitative defects of caveolin-3EnrichmentCAV31.72
186Common variable immunodeficiency 12EnrichmentNFKB11.72
187Lens subluxationEnrichmentTFAP2A1.72
188Cardiomyopathy, familial hypertrophic, 1EnrichmentCAV3, FLNC1.67
189Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.55
190Prune belly syndromeEnrichmentFLNA1.55
191Larsen syndromeEnrichmentFLNB1.55
192Arterial tortuosity syndromeEnrichmentFLNA1.55
193Bleeding disorder, platelet-type, 16EnrichmentITGB31.55
194Takayasu arteritisEnrichmentHLA-B1.55
195Pompe disease, infantile-onsetEnrichmentPIK3CA1.55
196Periventricular nodular heterotopia 1EnrichmentFLNA1.55
197Myopathy, myofibrillar, 5EnrichmentFLNC1.55
198Rippling muscle disease 2EnrichmentCAV31.55
199Spondylocarpotarsal synostosis syndromeEnrichmentFLNB1.55
200Long qt syndrome 9EnrichmentCAV31.55
201Nasopharyngeal carcinomaEnrichmentNPC11.55
202Congenital short bowel syndromeEnrichmentFLNA1.55
203Myopathy, distal, tateyama typeEnrichmentCAV31.55
204Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.55
205Myopathy, distal, 4EnrichmentFLNC1.55
206Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.55
207Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.55
208Tethered spinal cord syndromeEnrichmentCREBBP1.55
209Torsion dystonia 1EnrichmentEIF2AK21.55
210Frontometaphyseal dysplasiaEnrichmentFLNA1.55
211Intraocular pressure quantitative trait locusEnrichmentCREBBP1.55
212Mucopolysaccharidosis-plus syndromeEnrichmentVPS33A1.55
213Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.55
214Bleeding disorder, platelet-type, 24EnrichmentITGB31.55
215Adult-onset myasthenia gravisEnrichmentHLA-DQA11.55
216Spinocerebellar ataxia, autosomal recessive 29EnrichmentVPS411.55
217KeratoacanthomaEnrichmentPIK3CA1.55
218Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.55
219Bladder cancerEnrichmentEGFR, PIK3CA1.51
220Lung cancerEnrichmentEGFR, PIK3CA1.43
221Branchiooculofacial syndromeEnrichmentTFAP2A1.43
222Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.43
223Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.43
224Immunodeficiency, common variable, 1EnrichmentNFKB21.43
225Retinitis pigmentosa 26EnrichmentITGA41.43
226Aminoacylase 1 deficiencyEnrichmentACTB1.43
227Cardiomyopathy, familial hypertrophic, 26EnrichmentFLNC1.43
228Cerebrovascular diseaseEnrichmentPIK3CA1.43
229Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.43
230Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.43
231Familial cerebral cavernous malformationsEnrichmentPIK3CA1.43
232Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.43
233Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.43
234Familial hypertrophic cardiomyopathyEnrichmentCAV3, FLNC1.41
235Hemifacial hyperplasiaEnrichmentFLNC1.33
236Capillary malformations, congenitalEnrichmentPIK3CA1.33
237Insulin-like growth factor iEnrichmentIGF1R1.33
238Rubinstein-taybi syndrome 2EnrichmentEP3001.33
239Glanzmann thrombasthenia 2EnrichmentITGB31.33
240Follicular lymphomaEnrichmentHLA-DRB11.33
241Heart conduction diseaseEnrichmentFLNC1.33
242AmblyopiaEnrichmentTFAP2A1.33
243Epidermolysis bullosaEnrichmentITGA61.33
244HemimegalencephalyEnrichmentPIK3CA1.33
245Herpes simplex virus encephalitisEnrichmentTBK11.33
246Coloboma of choroid and retinaEnrichmentACTG11.33
247Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.25
248Branchiootorenal syndrome 1EnrichmentTFAP2A1.25
249Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA61.25
250Inflammatory myofibroblastic tumorEnrichmentCLTC1.25
251Patent ductus arteriosusEnrichmentFLNA1.25
252Chronic mucocutaneous candidiasisEnrichmentSTAT11.25
253HypertrichosisEnrichmentCREBBP1.25
254Inherited arrhythmogenic cardiomyopathyEnrichmentFLNC1.25
255Nevus, epidermalEnrichmentPIK3CA1.19
256Squamous cell carcinoma, head and neckEnrichmentEGFR1.19
257Glanzmann thrombasthenia 1EnrichmentITGB31.19
258Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.19
259Noonan syndrome 3EnrichmentCLTC1.19
260Renal cell carcinoma with mit translocationsEnrichmentCLTC1.19
261Branchiootorenal syndromeEnrichmentTFAP2A1.19
262Motor neuron diseaseEnrichmentTBK11.19
263Gallbladder cancerEnrichmentPIK3CA1.19
264Myofibrillar myopathyEnrichmentFLNC1.19
265Overgrowth syndromeEnrichmentPIK3R11.19
266Familial isolated restrictive cardiomyopathyEnrichmentFLNC1.19
267B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentHLA-C1.19
268Hereditary breast carcinomaEnrichmentAKT1, PIK3CA1.18
269Ovarian cancerEnrichmentAKT1, EGFR, PIK3CA1.15
270Myopathy, tubular aggregate, 1EnrichmentCAV31.13
271Fanconi anemia, complementation group cEnrichmentFLNA1.13
272ThrombocytopeniaEnrichmentACTN1, ITGB31.12
273Charge syndromeEnrichmentEP3001.08
274Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.08
275Arteriovenous malformationEnrichmentPIK3CA1.08
276Adult hepatocellular carcinomaEnrichmentPIK3CA1.08
277Progressive non-fluent aphasiaEnrichmentTBK11.08
278Junctional epidermolysis bullosaEnrichmentITGA61.08
279HypertelorismEnrichmentPIK3CA, TFAP2A1.06
280Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentTBK11.04
281Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.04
282Ciliary dyskinesia, primary, 3EnrichmentNFKB11.04
283Nemaline myopathyEnrichmentFLNC1.04
284Myeloma, multipleEnrichmentCREBBP, PIK3R21.00
285AsthmaEnrichmentHLA-G1.00
286Heritable pulmonary arterial hypertensionEnrichmentCAV11.00
287Specific learning disabilityEnrichmentMAPK11.00
288Cardiac conduction defectEnrichmentFLNC0.97
289EpicanthusEnrichmentTFAP2A0.97
290Restrictive cardiomyopathyEnrichmentFLNC0.97
291Neural tube defectsEnrichmentITGB10.93
292Lung cancer susceptibility 3EnrichmentEGFR0.90
293Periventricular nodular heterotopiaEnrichmentFLNA0.90
294Heart diseaseEnrichmentCREBBP0.90
295Isolated macular dystrophyEnrichmentITGA40.90
296Polydactyly, postaxial, type a1EnrichmentEP3000.87
297Corpus callosum, agenesis ofEnrichmentCREBBP0.87
298Lynch syndromeEnrichmentPIK3CA0.87
299Isolated corpus callosum agenesisEnrichmentCREBBP0.87
300Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.87
301Creatine phosphokinase, elevated serumEnrichmentCAV30.85
302Arrhythmogenic right ventricular cardiomyopathyEnrichmentFLNC0.85
303Isolated elevated serum creatine phosphokinase levelsEnrichmentCAV30.85
304GliosarcomaEnrichmentEGFR0.85
305Cleft palate, isolatedEnrichmentFLNA0.82
306Sudden infant death syndromeEnrichmentCAV30.82
307Giant cell glioblastomaEnrichmentEGFR0.82
308Heart, malformation ofEnrichmentMAPK10.80
309Breast cancerEnrichmentAKT1, PIK3CA0.80
310Arteriovenous malformations of the brainEnrichmentEGFR0.78
311Diffuse large b-cell lymphomaEnrichmentCREBBP0.78
312Cardiomyopathy, dilated, 1aEnrichmentFLNC0.74
313Endometrial cancerEnrichmentPIK3CA0.74
314LissencephalyEnrichmentACTG10.74
315Hepatocellular carcinomaEnrichmentPIK3CA0.72
316Myocardial infarctionEnrichmentITGB30.72
317MicrophthalmiaEnrichmentTFAP2A0.72
318Multisystem inflammatory syndrome in childrenEnrichmentIRF30.72
319Noonan syndrome 1EnrichmentRASA20.70
320ScoliosisEnrichmentCREBBP0.69
321Tetralogy of fallotEnrichmentFLNC0.66
322Prostate cancerEnrichmentPIK3CA0.62
323Long qt syndrome 1EnrichmentCAV30.60
324Long qt syndromeEnrichmentCAV30.59
325Cystic fibrosisEnrichmentMBL20.58
326Connective tissue diseaseEnrichmentFLNB0.58
327CakutEnrichmentACTG10.56
328Genetic steroid-resistant nephrotic syndromeEnrichmentACTN40.56
329DystoniaEnrichmentNPC10.55
330Non-syndromic genetic deafnessEnrichmentACTG10.54
331Systemic lupus erythematosusEnrichmentHLA-DRB10.51
332Nonsyndromic hearing lossEnrichmentACTG10.48
333Gastric cancerEnrichmentPIK3CA0.47
334Nephrotic syndromeEnrichmentITGA30.47
335Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFLNA0.46
336Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC0.42
337Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.41
338Spastic ataxiaEnrichmentFLNC0.40
339Undetermined early-onset epileptic encephalopathyEnrichmentCLTC0.38
340Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentTBK10.37
341Cone-rod dystrophy 2EnrichmentITGA40.32
342AutismEnrichmentCREBBP0.30
343Rare genetic deafnessEnrichmentACTG10.27
344Dilated cardiomyopathyEnrichmentFLNC0.27
345Mitochondrial diseaseEnrichmentC1QBP0.25
346Congenital nervous system abnormalityEnrichmentCREBBP0.20
347Nervous system diseaseEnrichmentCREBBP0.20
348Complex neurodevelopmental disorderEnrichmentTIAM10.16
349Inherited cancer-predisposing syndromeEnrichmentEGFR0.14
350Hereditary retinal dystrophyEnrichmentITGA4, MERTK0.12
351Fundus dystrophyEnrichmentITGA4, MERTK0.12
352Retinitis pigmentosaEnrichmentMERTK0.06

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