Antiviral mechanism by IFN-stimulated genes

Pathway network for the Antiviral mechanism by IFN-stimulated genes SuperPath

Sources:
  • Reactome

Pathways in the Antiviral mechanism by IFN-stimulated genes SuperPath

#NameSourceGenes
1Antiviral mechanism by IFN-stimulated genesReactome
2Interferon SignalingReactome
(see all 276) (see less)
3Interferon gamma signalingReactome
4PKR-mediated signalingReactome
5Regulation of IFNG signalingReactome
6OAS antiviral responseReactome
7IFNG signaling activates MAPKsReactome

Gene overlap in member pathways for Antiviral mechanism by IFN-stimulated genes SuperPath

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

Disorders associated with Antiviral mechanism by IFN-stimulated genes SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Fanconi anemia, complementation group aEnrichmentFANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM10.40
2Multisystem inflammatory syndrome in childrenEnrichmentIFI44, IFI44L, IFIH1, IFNA21, IFNA4, IFNA6, IFNAR2, IFNB1, IRF39.67
3Genetic steroid-resistant nephrotic syndromeEnrichmentNUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP937.13
4Tubulinopathy-associated dysgyriaEnrichmentTUBA1A, TUBB2B, TUBB36.77
5TubulinopathyEnrichmentTUBA1A, TUBB2A, TUBB2B6.17
6Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK26.04
7Congenital fibrosis of the extraocular musclesEnrichmentTUBA1A, TUBB2B, TUBB35.48
8LissencephalyEnrichmentTUBA1A, TUBA3E, TUBB2B, TUBB35.30
9Familial infantile bilateral striatal necrosisEnrichmentADAR, NUP54, NUP625.28
10Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB14.30
11Severe cutaneous adverse reactionEnrichmentHLA-A, HLA-B4.30
12Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB14.30
13Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB14.30
14Ovarian cancerEnrichmentFANCA, FANCC, FANCE, FANCG, TP533.60
15Temporal arteritisEnrichmentHLA-B, HLA-DRB13.53
16Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF13.53
17Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB13.53
18Pancreatic cancerEnrichmentFANCE, FANCG, TP533.45
19Lymphomatoid papulosisEnrichmentNPM1, TYK23.38
20Singleton-merten syndromeEnrichmentIFIH1, RIGI3.38
21Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM1, TYK23.38
22Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB13.31
23Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB1, IRF53.31
24Helicobacter pylori infectionEnrichmentIFNGR13.23
25Noonan syndrome 5EnrichmentRAF13.23
26Cardiomyopathy, dilated, 1nnEnrichmentRAF13.23
27Immunodeficiency 27aEnrichmentIFNGR13.23
28Immunodeficiency 69EnrichmentIFNG3.23
29Noonan syndrome 13EnrichmentMAPK13.23
30Immunodeficiency 27bEnrichmentIFNGR13.23
31Leopard syndrome 2EnrichmentRAF13.23
32TrigonitisEnrichmentRAF13.23
33Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR23.23
34Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK13.23
35Polymicrogyria, bilateral perisylvian, x-linkedEnrichmentTUBA1A, TUBB2B3.19
36Aicardi-goutiares syndromeEnrichmentADAR, IFIH1, SAMHD13.19
37Otopalatodigital syndrome, type iEnrichmentFLNA3.18
38Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA3.18
39Prostate cancer, hereditary, 1EnrichmentRNASEL3.18
40Terminal osseous dysplasiaEnrichmentFLNA3.18
41Fg syndrome 2EnrichmentFLNA3.18
42Otopalatodigital syndrome spectrum disorderEnrichmentFLNA3.18
43Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemiaEnrichmentOAS13.18
44Singleton-merten syndrome 2EnrichmentRIGI3.18
45X-linked ehlers-danlos syndromeEnrichmentFLNA3.18
46X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA3.18
47Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaEnrichmentOAS13.18
48Granulomatosis with polyangiitisEnrichmentHLA-DPA1, HLA-DPB13.14
49Limited sclerodermaEnrichmentHLA-DRB1, IRF53.14
50Aicardi-goutieres syndromeEnrichmentADAR, IFIH1, SAMHD13.05
51Noonan syndrome 3EnrichmentPTPN11, RAF12.99
52MetachondromatosisEnrichmentPTPN112.99
53Dermatitis, atopic, 4EnrichmentSOCS32.99
54Leopard syndrome 1EnrichmentPTPN112.99
55Orofacial cleft 10EnrichmentSUMO12.99
56Immunodeficiency 31aEnrichmentSTAT12.99
57Immunodeficiency 31bEnrichmentSTAT12.99
58Vegetative pyoderma gangrenosumEnrichmentPTPN62.99
59Bullous pyoderma gangrenosumEnrichmentPTPN62.99
60Pustular pyoderma gangrenosumEnrichmentPTPN62.99
61Classic pyoderma gangrenosumEnrichmentPTPN62.99
62Malignant astrocytomaEnrichmentPTPN112.99
63Bilateral perisylvian polymicrogyriaEnrichmentTUBA1A, TUBB2B2.96
64Thrombocythemia 3EnrichmentJAK22.93
65Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.93
66PolycythemiaEnrichmentJAK22.93
67Hypereosinophilic syndromeEnrichmentJAK22.93
68Immunodeficiency 44EnrichmentIFNAR2, STAT22.91
69Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA2.88
70Otopalatodigital syndrome, type iiEnrichmentFLNA2.88
71Melnick-needles syndromeEnrichmentFLNA2.88
72Frontometaphyseal dysplasia 1EnrichmentFLNA2.88
73Cardiac valvular dysplasia, x-linkedEnrichmentFLNA2.88
74Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB12.87
75Autosomal dominant macrothrombocytopeniaEnrichmentTUBA8, TUBB12.87
76Colorectal cancerEnrichmentADAR, FANCC, FANCE, TP532.85
77Rheumatoid arthritisEnrichmentCIITA, IRF52.76
78Polycythemia veraEnrichmentJAK22.75
79Tuberous sclerosis 1EnrichmentIFNG2.75
80Hepatitis c virusEnrichmentIFNG2.75
81Tuberous sclerosis 2EnrichmentIFNG2.75
82Immunodeficiency 28EnrichmentIFNGR22.75
83Prune belly syndromeEnrichmentFLNA2.70
84Arterial tortuosity syndromeEnrichmentFLNA2.70
85Periventricular nodular heterotopia 1EnrichmentFLNA2.70
86Congenital short bowel syndromeEnrichmentFLNA2.70
87Frontometaphyseal dysplasiaEnrichmentFLNA2.70
88Acute promyelocytic leukemiaEnrichmentNPM1, PML, STAT32.69
89Immunodeficiency 31cEnrichmentSTAT12.69
90Werner syndromeEnrichmentPTPN112.69
91Erythrocytosis, familial, 1EnrichmentJAK22.63
92Budd-chiari syndromeEnrichmentJAK22.63
93Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.63
94Hepatitis bEnrichmentIFNGR12.63
95Systemic lupus erythematosusEnrichmentHLA-DRB1, IRF5, SOCS12.58
96Specific learning disabilityEnrichmentMAPK1, PTPN112.58
97Pituitary stalk interruption syndromeEnrichmentFANCA, FANCG2.57
98Myeloproliferative neoplasmEnrichmentJAK22.53
99Idiopathic aplastic anemiaEnrichmentIFNG2.53
100Immune thrombocytopeniaEnrichmentSOCS12.51
101Neutrophilic dermatosis, acute febrileEnrichmentPTPN62.51
102Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS12.51
103Tricuspid valve insufficiencyEnrichmentPTPN112.51
104Fanconi anemia, complementation group cEnrichmentFANCC, FLNA2.49
105LymphomaEnrichmentPTPN11, TP532.40
106Patent ductus arteriosusEnrichmentFLNA2.40
107MyelofibrosisEnrichmentJAK22.38
108Essential thrombocythemiaEnrichmentJAK22.38
109Pilomyxoid astrocytomaEnrichmentRAF12.38
110Anemia, autoimmune hemolyticEnrichmentSOCS12.38
111Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN112.38
112Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB12.37
113Melanocytic nevus syndrome, congenitalEnrichmentRAF12.33
114Noonan syndrome and noonan-related syndromeEnrichmentPTPN11, RAF12.31
115Diffuse large b-cell lymphomaEnrichmentSTAT3, TP532.30
116Galloway-mowat syndromeEnrichmentNUP107, NUP1332.29
117Leukemia, acute lymphoblastic 3EnrichmentJAK22.28
118Parkinson disease 1, autosomal dominantEnrichmentSNCA2.25
119Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvementEnrichmentTUBB32.25
120Incontinentia pigmentiEnrichmentIKBKG2.25
121Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.25
122Parkinson disease 4, autosomal dominantEnrichmentSNCA2.25
123Macrothrombocytopenia, isolated, 1, autosomal dominantEnrichmentTUBB12.25
124Immunodeficiency 38 with basal ganglia calcificationEnrichmentISG152.25
125Fetal encasement syndromeEnrichmentCHUK2.25
126Fanconi anemia, complementation group gEnrichmentFANCG2.25
127Immunodeficiency 15bEnrichmentIKBKB2.25
128Mehmo syndromeEnrichmentEIF2S32.25
129Fanconi anemia, complementation group bEnrichmentFANCB2.25
130Leber congenital amaurosis with early-onset deafnessEnrichmentTUBB4B2.25
131Spermatogenic failure 28EnrichmentFANCM2.25
132Immunodeficiency 15aEnrichmentIKBKB2.25
133Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK22.25
134Premature ovarian failure 15EnrichmentFANCM2.25
135Bone marrow failure syndrome 5EnrichmentTP532.25
136Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.25
137Papilloma of choroid plexusEnrichmentTP532.25
138Basal cell carcinoma 7EnrichmentTP532.25
139Oocyte/zygote/embryo maturation arrest 24EnrichmentTUBA1C2.25
140Anaplastic thyroid carcinomaEnrichmentTP532.25
141T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.25
142Houge-janssens syndrome 2EnrichmentPPP2R1A2.25
143Cortical dysplasia, complex, with other brain malformations 7EnrichmentTUBB2B2.25
144Oocyte/zygote/embryo maturation arrest 23EnrichmentTUBA4A2.25
145Frontotemporal dementia and/or amyotrophic lateral sclerosis 9EnrichmentTUBA4A2.25
146Ductal carcinoma in situEnrichmentTP532.25
147Fanconi anemia, complementation group lEnrichmentFANCL2.25
148Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.25
149Facial palsy, congenital, with ptosis and velopharyngeal dysfunctionEnrichmentTUBB62.25
150Bartsocas-papas syndrome 2EnrichmentCHUK2.25
151Dystonia 33EnrichmentEIF2AK22.25
152Thyroid gland undifferentiated carcinomaEnrichmentTP532.25
153Macrothrombocytopenia, isolated, 2, autosomal dominantEnrichmentTUBA82.25
154Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.25
155Lissencephaly due to tuba1a mutationEnrichmentTUBA1A2.25
156Congenital myopathy 26EnrichmentTUBA4A2.25
157Spastic ataxia 11, autosomal dominantEnrichmentTUBA4A2.25
158Amyotrophic lateral sclerosis type 22EnrichmentTUBA4A2.25
159Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.25
160Fanconi anemia, complementation group xEnrichmentFAAP1002.25
161Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.25
162Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM12.25
163Intellectual developmental disorder, autosomal dominant 75EnrichmentDHX92.25
164Choroid plexus cancerEnrichmentTP532.25
165Polymicrogyria with optic nerve hypoplasiaEnrichmentTUBA82.25
166Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM12.25
167Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.25
168Pleomorphic xanthoastrocytomaEnrichmentTP532.25
169Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A2.25
170Adar-related hereditary spastic paraplegiaEnrichmentADAR2.25
171Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.25
172Aplastic anemiaEnrichmentIFNG2.23
173HepatoblastomaEnrichmentFANCA, TP532.22
174Chronic mucocutaneous candidiasisEnrichmentSTAT12.21
175Inherited cancer-predisposing syndromeEnrichmentFANCA, FANCC, FANCM, TP532.19
176Human immunodeficiency virus type 1EnrichmentHLA-C, IFNG2.15
177Spondyloarthropathy 1EnrichmentHLA-B2.15
178Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF42.15
179Orofacial cleft 6EnrichmentIRF62.15
180Psoriasis 1EnrichmentHLA-C2.15
181Popliteal pterygium syndromeEnrichmentIRF62.15
182Immunodeficiency 39 viral infectionsEnrichmentIRF72.15
183Charcot-marie-tooth disease, axonal, type 2rEnrichmentTRIM22.15
184Encephalopathy, acute, infection-induced 7EnrichmentIRF32.15
185Immunodeficiency 43EnrichmentB2M2.15
186Immunodeficiency 32aEnrichmentIRF82.15
187Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.15
188Immunodeficiency 131EnrichmentIRF42.15
189Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.15
190Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.15
191Charcot-marie-tooth disease type 2rEnrichmentTRIM22.15
192Focal segmental glomerulosclerosis and neurodevelopmental syndromeEnrichmentTRIM82.15
193Dialysis-related amyloidosisEnrichmentB2M2.15
194Immunodeficiency 39EnrichmentIRF72.15
195Ankylosing spondylitis 1EnrichmentHLA-B2.15
196Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB12.15
197Systemic lupus erythematosus 10EnrichmentIRF52.15
198Birdshot chorioretinopathyEnrichmentHLA-A2.15
199Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.15
200Colorectal cancer 3EnrichmentSMAD72.15
201Inflammatory bowel disease 14EnrichmentIRF52.15
202Reactive arthritisEnrichmentHLA-B2.15
203Irf6-related disordersEnrichmentIRF62.15
204Autosomal dominant popliteal pterygium syndromeEnrichmentIRF62.15
205BerylliosisEnrichmentHLA-DPB12.15
206Immunodeficiency 65 viral infectionsEnrichmentIRF92.15
207Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.15
208Amyloidosis, hereditary systemic 6EnrichmentB2M2.15
209Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.15
210Pulmonary arterial hypertension associated with connective tissue diseaseEnrichmentHLA-B2.15
211Whipple diseaseEnrichmentIRF42.15
212Trim22-related inflammatory bowel diseaseEnrichmentTRIM222.15
213Oligoarticular juvenile idiopathic arthritisEnrichmentPTPN22.14
214Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentPTPN22.14
215Behcet syndromeEnrichmentHLA-B, IFNGR12.11
216B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentHLA-C, TP532.09
217Breast cancerEnrichmentFANCC, FANCM, TP532.07
218Leukemia, acute myeloidEnrichmentJAK2, NPM1, NUP214, TP532.06
219Periventricular nodular heterotopiaEnrichmentFLNA2.03
220Tooth agenesisEnrichmentIRF6, RANBP2, SUMO12.02
221Heart, malformation ofEnrichmentMAPK11.98
222Lymphoma, non-hodgkin, familialEnrichmentB2M, TP531.97
223Boomerang dysplasiaEnrichmentFLNB1.96
224Robin sequence with cleft mandible and limb anomaliesEnrichmentEIF4A31.96
225Atelosteogenesis, type iiiEnrichmentFLNB1.96
226Atelosteogenesis, type iEnrichmentFLNB1.96
227Parkinson disease 18, autosomal dominantEnrichmentEIF4G11.96
228Fetal akinesia deformation sequence 4EnrichmentNUP881.96
229Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrimaEnrichmentNDC11.96
230Atrial fibrillation, familial, 15EnrichmentNUP1551.96
231Oocyte/zygote/embryo maturation arrest 17EnrichmentKPNA71.96
232Dystonia 37, early-onset, with striatal lesionsEnrichmentNUP541.96
233Nephrotic syndrome, type 19EnrichmentNUP1601.96
234Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.96
235Galloway-mowat syndrome 8EnrichmentNUP1331.96
236Autism 19EnrichmentEIF4E1.96
237Nephrotic syndrome, type 13EnrichmentNUP2051.96
238Microcephaly 24, primary, autosomal recessiveEnrichmentNUP371.96
239Galloway-mowat syndrome 7EnrichmentNUP1071.96
240Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A21.96
241Nephrotic syndrome, type 12EnrichmentNUP931.96
242Nephrotic syndrome, type 11EnrichmentNUP1071.96
243Encephalopathy, acute, infection-induced 9EnrichmentNUP2141.96
244Sandestig-stefanova syndromeEnrichmentNUP1881.96
245Ovarian dysgenesis 6EnrichmentNUP1071.96
246Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR1.96
247Nephrotic syndrome, type 18EnrichmentNUP1331.96
248Pseudo-torch syndrome 2EnrichmentUSP181.96
249Spastic paraplegia 88, autosomal dominantEnrichmentKPNA31.96
250Flnb-related disordersEnrichmentFLNB1.96
251Familial acute necrotizing encephalopathyEnrichmentRANBP21.96
252Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndromeEnrichmentKPNA71.96
253Dystonia 4, torsion, autosomal dominantEnrichmentTUBB4A1.95
254Adrenocortical carcinoma, hereditaryEnrichmentTP531.95
255Ovarian germ cell cancerEnrichmentFANCM1.95
256Cervical cancerEnrichmentTP531.95
257Immunodeficiency 33EnrichmentIKBKG1.95
258Vacterl association, x-linked, with or without hydrocephalusEnrichmentFANCL1.95
259Dyschromatosis symmetrica hereditariaEnrichmentADAR1.95
260Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusEnrichmentDNAJC31.95
261Muscular dystrophy, limb-girdle, autosomal recessive 3EnrichmentTUBA1A1.95
262Lymphoma, hodgkin, classicEnrichmentTP531.95
263Aicardi-goutieres syndrome 6EnrichmentADAR1.95
264Dystonia 16EnrichmentPRKRA1.95
265Keratoconus 9EnrichmentTUBA3D1.95
266Autosomal recessive limb-girdle muscular dystrophy type 2dEnrichmentTUBA1A1.95
267Parkinson disease 15, autosomal recessive early-onsetEnrichmentSNCA1.95
268Intellectual developmental disorder, x-linked, syndromic, pilorge typeEnrichmentFANCB1.95
269Lissencephaly 3EnrichmentTUBA1A1.95
270Fanconi anemia, complementation group eEnrichmentFANCE1.95
271Congenital fibrosarcomaEnrichmentTP531.95
272Li-fraumeni syndrome 1EnrichmentTP531.95
273SarcomaEnrichmentTP531.95
274Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG1.95
275Cortical dysplasia, complex, with other brain malformations 1EnrichmentTUBB31.95
276Cervix carcinomaEnrichmentTP531.95
277Hodgkin's lymphomaEnrichmentTP531.95
278Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.95
279Acute myeloid leukemia without maturationEnrichmentNPM11.95
280Torsion dystonia 4EnrichmentTUBB4A1.95
281Houge-janssens syndrome 3EnrichmentPPP2CA1.95
282Vacterl with hydrocephalusEnrichmentFANCB1.95
283Malignant germ cell tumor of ovaryEnrichmentFANCM1.95
284Symmetrical dyschromatosis of extremitiesEnrichmentADAR1.95
285Pleomorphic rhabdomyosarcomaEnrichmentTP531.95
286Continuous spikes and waves during sleepEnrichmentTUBA1A1.95
287Cleft palate, isolatedEnrichmentFLNA1.95
288Pectus excavatumEnrichmentPTPN111.95
289Noonan syndrome 1EnrichmentPTPN11, RAF11.94
290Patent foramen ovaleEnrichmentFLNA1.93
291EpicanthusEnrichmentPTPN111.91
292Juvenile myelomonocytic leukemiaEnrichmentPTPN111.91
293Congenital long qt syndromeEnrichmentPTPN111.91
294Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.85
295Immunodeficiency 32bEnrichmentIRF81.85
296Opitz gbbb syndromeEnrichmentMID11.85
297Creutzfeldt-jakob diseaseEnrichmentHLA-DQB11.85
298Sarcoidosis 1EnrichmentHLA-DRB11.85
299Stevens-johnson syndromeEnrichmentHLA-B1.85
300Mid1-related opitz g/bbb syndromeEnrichmentMID11.85
301Immunodeficiency 117EnrichmentIRF11.85
302Van der woude syndromeEnrichmentIRF61.85
303RasopathyEnrichmentPTPN11, RAF11.84
304Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.78
305Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentTUBB11.78
306RetinoblastomaEnrichmentFANCM1.78
307Osteogenic sarcomaEnrichmentTP531.78
308Leukodystrophy, hypomyelinating, 6EnrichmentTUBB4A1.78
309Nasopharyngeal carcinomaEnrichmentTP531.78
310Oocyte/zygote/embryo maturation arrest 2EnrichmentTUBB81.78
311Cortical dysplasia, complex, with other brain malformations 5EnrichmentTUBB2A1.78
312Fanconi anemia, complementation group fEnrichmentFANCF1.78
313Hyper ige syndromeEnrichmentSTAT31.78
314Torsion dystonia 1EnrichmentEIF2AK21.78
315Atypical teratoid rhabdoid tumorEnrichmentTP531.78
316Anaplastic astrocytomaEnrichmentTP531.78
317Squamous cell carcinomaEnrichmentTP531.78
318AdenocarcinomaEnrichmentTP531.78
319Bone osteosarcomaEnrichmentTP531.78
320Severe covid-19EnrichmentHLA-A, HLA-DQB11.75
321Prostate cancerEnrichmentRNASEL1.72
322Familial hypertrophic cardiomyopathyEnrichmentRAF11.71
323Cerebral palsyEnrichmentTUBA1A, TUBB4A1.70
324AsthmaEnrichmentFKBP5, HLA-G1.70
325Immunodeficiency 35EnrichmentTYK21.69
326Chilblain lupus 2EnrichmentSAMHD11.69
327Singleton-merten syndrome 1EnrichmentIFIH11.69
328Pseudo-torch syndrome 3EnrichmentSTAT21.69
329Immunodeficiency 106 viral infectionsEnrichmentIFNAR11.69
330Immunodeficiency 95EnrichmentIFIH11.69
331Type 1 diabetes mellitus 19EnrichmentIFIH11.69
332Aicardi-goutieres syndrome 5EnrichmentSAMHD11.69
333Influenza, severeEnrichmentIFITM31.69
334Achromatopsia 7EnrichmentATF61.69
335Aicardi-goutieres syndrome 7EnrichmentIFIH11.69
336Left ventricular noncompactionEnrichmentRAF11.69
337Van der woude syndrome 1EnrichmentIRF61.68
338Takayasu arteritisEnrichmentHLA-B1.68
339Spondyloepimetaphyseal dysplasia, genevieve typeEnrichmentTRIM141.68
340Adult-onset myasthenia gravisEnrichmentHLA-DQA11.68
341Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.68
342Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR1.66
343Striatonigral degeneration, infantileEnrichmentNUP621.66
344Nephrotic syndrome, type 17EnrichmentNUP851.66
345Spastic paraplegia 37, autosomal dominantEnrichmentKPNA31.66
346Acute myeloid leukemia with t(6;9) (p23;q34.1)EnrichmentNUP2141.66
347Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.66
348Submucosal cleft palateEnrichmentUBB1.66
349Cleft hard palateEnrichmentUBB1.66
350Small cell cancer of the lungEnrichmentTP531.65
351Thyroid cancer, nonmedullary, 1EnrichmentTP531.65
352Lung sarcomatoid carcinomaEnrichmentTP531.65
353Embryonal rhabdomyosarcomaEnrichmentTP531.65
354Vacterl associationEnrichmentFANCL1.65
355ScoliosisEnrichmentPTPN111.61
356Hereditary breast carcinomaEnrichmentFANCM, TP531.60
357Hydrops fetalis, nonimmuneEnrichmentPTPN111.58
358StrabismusEnrichmentPTPN111.56
359Dementia, lewy bodyEnrichmentSNCA1.56
360Vater/vacterl associationEnrichmentFANCL1.56
361Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.56
362Rhabdomyosarcoma 2EnrichmentTP531.56
363Acute myeloid leukemia with maturationEnrichmentNPM11.56
364Acute megakaryocytic leukemiaEnrichmentTP531.56
365Female infertility due to oocyte meiotic arrestEnrichmentTUBB81.56
366Cerebral malariaEnrichmentICAM11.55
367Immunodeficiency by defective expression of mhc class iEnrichmentB2M1.55
368Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.55
369Cleft lip and alveolusEnrichmentIRF61.55
370Parkinson disease, late-onsetEnrichmentEIF4G1, SNCA1.54
371Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFLNA1.54
372Long qt syndrome 1EnrichmentPTPN111.52
373Familial isolated dilated cardiomyopathyEnrichmentRAF11.51
374Non-immune hydrops fetalisEnrichmentPTPN111.50
375Larsen syndromeEnrichmentFLNB1.48
376Uvula, bifidEnrichmentUBB1.48
377Spondylocarpotarsal synostosis syndromeEnrichmentFLNB1.48
378Cleft soft palateEnrichmentUBB1.48
379Heparin cofactor ii deficiencyEnrichmentEIF4G31.48
380Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.48
381Li-fraumeni syndromeEnrichmentTP531.48
382Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1EnrichmentTUBB2B1.48
383Adrenocortical carcinomaEnrichmentTP531.48
384Early myoclonic encephalopathyEnrichmentTUBA1A1.48
385Breast adenocarcinomaEnrichmentTP531.48
386NephronophthisisEnrichmentPIAS11.47
387Primary ovarian insufficiencyEnrichmentJAK21.46
388Amyloidosis, hereditary systemic 2EnrichmentB2M1.46
389Follicular lymphomaEnrichmentHLA-DRB11.46
390Cleft upper lipEnrichmentIRF61.46
391Hereditary breast ovarian cancer syndromeEnrichmentFANCM, TP531.42
392Esophageal cancerEnrichmentTP531.41
393Squamous cell carcinoma, head and neckEnrichmentTP531.41
394Gallbladder cancerEnrichmentTP531.41
395Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK31.39
396Immunodeficiency 45EnrichmentIFNAR21.39
397Basal ganglia diseaseEnrichmentIFIH11.39
398Type 2 diabetes mellitusEnrichmentPTPN11.37
399Hypertrophic cardiomyopathyEnrichmentPTPN111.36
400Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.36
401Achalasia-addisonianism-alacrima syndromeEnrichmentAAAS1.36
402Ectodermal dysplasiaEnrichmentRANBP21.36
4032p21 microdeletion syndromeEnrichmentPPM1B1.36
404Glioma susceptibility 1EnrichmentTP531.36
405CryptorchidismEnrichmentTUBA1A1.36
406Permanent neonatal diabetes mellitusEnrichmentSTAT31.36
407Dandy-walker syndromeEnrichmentMID1, TUBA1A1.34
408Dilated cardiomyopathyEnrichmentRAF11.34
409ThrombocytopeniaEnrichmentPTPN111.31
410Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B1.31
411Cryptorchidism, unilateral or bilateralEnrichmentTUBA1A1.31
412Coronary heart disease 5EnrichmentIKBKG1.31
413Adult hepatocellular carcinomaEnrichmentTP531.31
414Primary hyperaldosteronismEnrichmentTP531.31
415Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP21.27
416Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP21.27
417Leukemia, chronic lymphocyticEnrichmentTP531.26
418Familial colorectal cancerEnrichmentTP531.26
419Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN111.25
420MicrocephalyEnrichmentCAMK2B, MAPK1, PTPN111.25
421Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB81.22
422Menkes diseaseEnrichmentEIF2AK31.22
423Proteosome-associated autoinflammatory syndromeEnrichmentPSMB81.22
424Familial chilblain lupusEnrichmentSAMHD11.22
425Myelodysplastic syndromeEnrichmentTP531.22
426Focal segmental glomerulosclerosisEnrichmentNUP93, TRIM81.21
427Primary biliary cholangitisEnrichmentIRF51.21
428Mhc class ii deficiencyEnrichmentCIITA1.21
429Fetal akinesia deformation sequence 1EnrichmentNUP88, TUBA1A1.20
430Inflammatory myofibroblastic tumorEnrichmentRANBP21.19
431Congenital hypothyroidismEnrichmentTUBB11.19
432Early-onset parkinson's diseaseEnrichmentSNCA1.19
433Lip and oral cavity carcinomaEnrichmentTP531.19
434Mitochondrial dna depletion syndrome 4aEnrichmentRANBP21.13
435Mhc class ii deficiency 1EnrichmentCIITA1.12
436Lung non-small cell carcinomaEnrichmentIRF11.12
437Lung cancer susceptibility 3EnrichmentTP531.12
438MalariaEnrichmentICAM1, IKBKG1.10
439Corpus callosum, agenesis ofEnrichmentTUBA1A1.09
440Lynch syndromeEnrichmentFANCM1.09
441Isolated corpus callosum agenesisEnrichmentTUBA1A1.09
442Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentTUBA1A1.09
443Male infertility with spermatogenesis disorderEnrichmentFANCM1.09
444Mitochondrial dna depletion syndrome 4bEnrichmentRANBP21.07
445RhabdomyosarcomaEnrichmentTP531.07
446GliosarcomaEnrichmentTP531.07
447Isolated congenital microcephalyEnrichmentTUBA3E1.07
448Giant cell glioblastomaEnrichmentTP531.04
449Cleft lip/palateEnrichmentIRF61.02
450Major depressive disorderEnrichmentFKBP51.01
451Spastic diplegiaEnrichmentIFIH11.01
452Dyskeratosis congenitaEnrichmentNPM10.99
453AzoospermiaEnrichmentFANCM0.97
454Autism spectrum disorderEnrichmentPTPN110.97
455Congenital nervous system abnormalityEnrichmentAAAS, TUBA1A, TUBB4A0.95
456Nervous system diseaseEnrichmentAAAS, TUBA1A, TUBB4A0.95
457Hepatocellular carcinomaEnrichmentTP530.93
458Early infantile developmental and epileptic encephalopathyEnrichmentTRIM80.92
459Diamond-blackfan anemia 1EnrichmentTP530.92
46046 xx gonadal dysgenesisEnrichmentNUP1070.90
461Esophageal atresia/tracheoesophageal fistulaEnrichmentIRF80.90
462Auditory neuropathyEnrichmentTUBB4A0.87
463Lung cancerEnrichmentIRF1, PPP2R1B0.86
464Seckel syndromeEnrichmentNUP850.84
465Bladder cancerEnrichmentTP530.82
466Severe combined immunodeficiencyEnrichmentIKBKB0.77
467Diamond-blackfan anemiaEnrichmentTP530.74
468AchromatopsiaEnrichmentATF60.73
469Charcot-marie-tooth diseaseEnrichmentDHX90.69
470Gastric cancerEnrichmentTP530.67
471Optic atrophy plus syndromeEnrichmentTUBB60.66
472West syndromeEnrichmentTUBA1A0.66
473DystoniaEnrichmentCAMK2B0.66
474Precursor t-cell acute lymphoblastic leukemiaEnrichmentNUP2140.65
475Familial atrial fibrillationEnrichmentNUP1550.63
476Spastic ataxiaEnrichmentTUBB30.59
477Myeloma, multipleEnrichmentTP530.57
478Hirschsprung disease 1EnrichmentNUP980.56
479Differentiated thyroid carcinomaEnrichmentTPR0.56
480Primary autosomal recessive microcephalyEnrichmentNUP370.52
481Connective tissue diseaseEnrichmentFLNB0.52
482Nephrotic syndromeEnrichmentNUP930.42
483Autoinflammatory diseaseEnrichmentPSMB80.41
484Complex neurodevelopmental disorderEnrichmentEIF4A2, PPP2CA0.40
485AutismEnrichmentCAMK2G0.40
486Leber plus diseaseEnrichmentTUBB4B0.38
487Autosomal recessive non-syndromic intellectual disabilityEnrichmentTPR0.32
488Cone-rod dystrophy 2EnrichmentATF60.12
489Hereditary retinal dystrophyEnrichmentATF60.00
490Fundus dystrophyEnrichmentATF60.00

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