NF-KappaB Family Pathway

No Pathway Network information available for NF-KappaB Family Pathway

Pathways in the NF-KappaB Family Pathway SuperPath

#NameSourceGenes
1NF-KappaB Family PathwayQIAGEN
2NF-KappaB (p50-p65) PathwayQIAGEN

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

Disorders associated with NF-KappaB Family Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Lacrimoauriculodentodigital syndrome 1EnrichmentFGF10, FGFR2, FGFR35.53
2Colorectal cancerEnrichmentAKT1, BCL10, EP300, FGFR2, FGFR3, IGF2, MET, PIK3R1, TLR24.96
3GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA4.17
4Microform holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS14.17
5Lobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS14.17
6Testicular germ cell tumorEnrichmentBCL10, FGFR3, KITLG4.10
7Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, NFKBIA4.06
8Semilobar holoprosencephalyEnrichmentCRIPTO, FGF8, FGFR1, GAS13.96
9Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGF17, FGF8, FGFR1, GNRH13.96
10Common variable immunodeficiencyEnrichmentCD40LG, NFKB1, NFKB23.86
11Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.80
12Severe combined immunodeficiencyEnrichmentCD247, CD3E, IKBKB, MALT1, ZAP703.76
13Immunodeficiency 33EnrichmentIKBKG, IRAK43.68
14Pfeiffer syndromeEnrichmentFGFR1, FGFR23.68
15Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.68
16Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA3.68
17Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.68
18Transient predisposition to invasive pyogenic bacterial infectionEnrichmentIRAK4, MYD883.68
19Kallmann syndromeEnrichmentFGF17, FGF8, FGFR1, SEMA3A3.52
20Multisystem inflammatory syndrome in childrenEnrichmentIRAK3, TLR3, TLR6, TRAF33.41
21Crouzon syndromeEnrichmentFGFR2, FGFR33.21
22Psoriatic arthritisEnrichmentLTA, TNF3.21
23T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD247, CD3E3.11
24Testicular cancerEnrichmentBCL10, FGFR33.11
25Septopreoptic holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.92
26Midline interhemispheric variant of holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.92
27Brachydactyly, type a2EnrichmentBMP2, GDF52.91
28Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.91
29Multiple synostoses syndromeEnrichmentGDF5, GDF62.91
30Alobar holoprosencephalyEnrichmentCRIPTO, FGF8, GAS12.76
31Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.69
32Ventricular septal defect 1EnrichmentBMP2, BMP72.69
33HoloprosencephalyEnrichmentFGF8, FGFR12.69
34Systemic lupus erythematosusEnrichmentIRAK1, TLR7, TNF, TNFAIP32.63
35Arteriovenous malformations of the brainEnrichmentEGFR, IL6, TIMP32.61
36Lymphoma, mucosa-associated lymphoid typeEnrichmentBCL10, MALT12.60
37Herpes simplex virus encephalitisEnrichmentTLR3, TRAF32.60
38Atrial septal defect 1EnrichmentBMP2, TGFB22.52
39Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.52
40Holoprosencephaly 1EnrichmentFGF8, FGFR12.52
41Hemangioma, capillary infantileEnrichmentFLT4, KDR2.52
42Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.52
43Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK1, TGFB12.52
44Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK1, TGFB12.52
45Lung squamous cell carcinomaEnrichmentEGFR, FGFR32.52
46Glaucoma, primary open angleEnrichmentCARD10, LTBP22.43
47Hemochromatosis, type 1EnrichmentBMP2, BMP62.26
48Charge syndromeEnrichmentEP300, TNFRSF1A2.16
49Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.16
50Loeys-dietz syndromeEnrichmentTGFB2, TGFB32.16
51Marfan syndromeEnrichmentLTBP2, TGFB22.06
52Inflammatory bowel disease 1EnrichmentIL6, PRKCQ2.06
53Long qt syndrome 1EnrichmentCALM1, CALM2, CALM32.04
54Renal hypodysplasia/aplasia 3EnrichmentBMP4, FGFR31.90
55MeningiomaEnrichmentAKT1, PDGFB1.90
56Myeloma, multipleEnrichmentCREBBP, FGFR3, PIK3R2, TRAF51.90
57AsthmaEnrichmentCARD11, TNF1.89
58Combined immunodeficiencyEnrichmentMALT1, ZAP701.89
59Combined t cell and b cell immunodeficiencyEnrichmentMALT1, ZAP701.89
60Combined t and b cell immunodeficiencyEnrichmentMALT1, ZAP701.89
61Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.84
62HypochondroplasiaEnrichmentFGFR31.84
63Proteus syndromeEnrichmentAKT11.84
64Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.84
65Osteoglophonic dysplasiaEnrichmentFGFR11.84
66Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.84
67Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.84
68Thanatophoric dysplasia, type iEnrichmentFGFR31.84
69Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP21.84
70Leprosy 3EnrichmentTLR21.84
71Trigonocephaly 1EnrichmentFGFR11.84
72Spinocerebellar ataxia 27aEnrichmentFGF141.84
73Muenke syndromeEnrichmentFGFR31.84
74Incontinentia pigmentiEnrichmentIKBKG1.84
75Legionnaire diseaseEnrichmentTLR51.84
76Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.84
77Hypomagnesemia 4, renalEnrichmentEGF1.84
78Immunodeficiency 68EnrichmentMYD881.84
79Glaucoma 3, primary congenital, dEnrichmentLTBP21.84
80Microphthalmia, isolated 4EnrichmentGDF61.84
81Angel-shaped phalangoepiphyseal dysplasiaEnrichmentGDF51.84
82Leprosy 4EnrichmentLTA1.84
83Deafness, autosomal recessive 39EnrichmentHGF1.84
84Carney complex, type 1EnrichmentPRKAR1A1.84
85Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.84
86Macroglobulinemia, waldenstrom 1EnrichmentMYD881.84
87Apert syndromeEnrichmentFGFR21.84
88Basal ganglia calcification, idiopathic, 5EnrichmentPDGFB1.84
89Hyperpigmentation with or without hypopigmentation, familial progressiveEnrichmentKITLG1.84
90Immunodeficiency 83 viral infectionsEnrichmentTLR31.84
91Thanatophoric dysplasia, type iiEnrichmentFGFR31.84
92Leprosy 5EnrichmentTLR11.84
93Hypogonadotropic hypogonadism 20 with or without anosmiaEnrichmentFGF171.84
94Fetal encasement syndromeEnrichmentCHUK1.84
95Ciliary dyskinesia, primary, 33EnrichmentDRC41.84
96Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.84
97Frontometaphyseal dysplasia 2EnrichmentMAP3K71.84
98Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.84
99Hypogonadotropic hypogonadism 23 with or without anosmiaEnrichmentLHB1.84
100Aplasia of lacrimal and salivary glandsEnrichmentFGF101.84
101Bent bone dysplasia syndrome 1EnrichmentFGFR21.84
102Weill-marchesani syndrome 3EnrichmentLTBP21.84
103Immunodeficiency 15bEnrichmentIKBKB1.84
104Multiple synostoses syndrome 4EnrichmentGDF61.84
105Immunodeficiency 15aEnrichmentIKBKB1.84
106Intellectual developmental disorder, x-linked 110EnrichmentFGF131.84
107Spinocerebellar ataxia 27b, late-onsetEnrichmentFGF141.84
108Hyperemesis gravidarumEnrichmentGDF151.84
109Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO1.84
110Deafness, autosomal recessive 125EnrichmentGAS21.84
111Short syndromeEnrichmentPIK3R11.84
112Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR71.84
113Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.84
114Hereditary lymphedema idEnrichmentVEGFC1.84
115Systemic lupus erythematosus 1EnrichmentTLR51.84
116Osteofibrous dysplasiaEnrichmentMET1.84
117X-linked immunodeficiency 74EnrichmentTLR71.84
118Microphthalmia, syndromic 6EnrichmentBMP41.84
119Systemic lupus erythematosus 17EnrichmentTLR71.84
120Developmental and epileptic encephalopathy 90EnrichmentFGF131.84
121Cardioacrofacial dysplasia 2EnrichmentPRKACB1.84
122Orofacial cleft 11EnrichmentBMP41.84
123Metacarpal 4-5 fusionEnrichmentFGF161.84
124Lymphatic malformation 4EnrichmentVEGFC1.84
125Myxoma, intracardiacEnrichmentPRKAR1A1.84
126Chronic recurrent multifocal osteomyelitis 3EnrichmentIL1R11.84
127Lacrimoauriculodentodigital syndrome 3EnrichmentFGF101.84
128Familial isolated trichomegalyEnrichmentFGF51.84
129Asthma-related traits 5EnrichmentIRAK31.84
130Deafness, autosomal recessive 97EnrichmentMET1.84
131Skin/hair/eye pigmentation, variation in, 7EnrichmentKITLG1.84
132Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.84
133Camurati-engelmann disease 2EnrichmentTGFB21.84
134Geleophysic dysplasia 3EnrichmentLTBP31.84
135Autism 9EnrichmentMET1.84
136Immunodeficiency 67EnrichmentIRAK41.84
137Glaucoma 1, open angle, oEnrichmentNTF41.84
138Iron overloadEnrichmentBMP61.84
139Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.84
140Hypogonadotropic hypogonadism 12 with or without anosmiaEnrichmentGNRH11.84
141Multiple sclerosis 5EnrichmentTNFRSF1A1.84
142Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD1.84
143Hypogonadotropic hypogonadism 16 with or without anosmiaEnrichmentSEMA3A1.84
144Leber congenital amaurosis 17EnrichmentGDF61.84
145Long qt syndrome 16EnrichmentCALM31.84
146Cowden syndrome 6EnrichmentAKT11.84
147Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.84
148Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO1.84
149MelioidosisEnrichmentTLR51.84
150Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.84
151Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.84
152Macular degeneration, age-related, 10EnrichmentTLR41.84
153Hypogonadotropic hypogonadism 6 with or without anosmiaEnrichmentFGF81.84
154Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.84
155Tumoral calcinosis, hyperphosphatemic, familial, 2EnrichmentFGF231.84
156Hartsfield syndromeEnrichmentFGFR11.84
157Congenital heart defects, multiple types, 7EnrichmentFLT41.84
158Loeys-dietz syndrome 5EnrichmentTGFB31.84
159Renal hypodysplasia/aplasia 2EnrichmentFGF201.84
160Cardioacrofacial dysplasia 1EnrichmentPRKACA1.84
161Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.84
16220p12.3 microdeletion syndromeEnrichmentBMP21.84
163Cutis laxa, autosomal recessive, type iieEnrichmentLTBP11.84
164Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.84
165Bartsocas-papas syndrome 2EnrichmentCHUK1.84
166Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.84
167Menke-hennekam syndrome 1EnrichmentCREBBP1.84
168Developmental and epileptic encephalopathy 47EnrichmentFGF121.84
169Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK11.84
170Premature ovarian failure 14EnrichmentGDF91.84
171Tufted angioma of skinEnrichmentKDR1.84
172Deafness, autosomal dominant 69EnrichmentKITLG1.84
173Thrombocytopenia 9EnrichmentTHPO1.84
174Arthrogryposis, distal, type 11EnrichmentMET1.84
175Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.84
176Long qt syndrome 15EnrichmentCALM21.84
177Short-rib thoracic dysplasia 22 without polydactylyEnrichmentFGF41.84
178Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP31.84
179Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.84
180Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.84
181Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP21.84
182Immunodeficiency 112EnrichmentMAP3K141.84
183Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.84
184Cerebral cavernous malformations 5EnrichmentMAP3K31.84
185Spinocerebellar ataxia type 27bEnrichmentFGF141.84
186Fgfr3-related chondrodysplasiaEnrichmentFGFR31.84
187Waldenstram macroglobulinemiaEnrichmentMYD881.84
188Congenital primary lymphedema of gordonEnrichmentVEGFC1.84
189Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.84
190Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.84
191Menke-hennekam syndromeEnrichmentCREBBP1.84
192Familial progressive hyperpigmentationEnrichmentKITLG1.84
193Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.84
194Verrucous hemangiomaEnrichmentMAP3K31.84
195Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.84
196Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.84
197Familial progressive hyper- and hypopigmentationEnrichmentKITLG1.84
198Interstitial lung disease specific to childhoodEnrichmentFGF101.84
199Nik deficiencyEnrichmentMAP3K141.84
200Pityriasis rubra pilarisEnrichmentCARD141.79
201Psoriasis 2EnrichmentCARD141.79
202Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.79
203Immunodeficiency 89 and autoimmunityEnrichmentCARD101.79
204Immunodeficiency 92EnrichmentREL1.79
205Immunodeficiency with hyper-igm, type 1EnrichmentCD40LG1.79
206Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK21.79
207Immunodeficiency 48EnrichmentZAP701.79
208Immunodeficiency 132aEnrichmentTRAF31.79
209Immunodeficiency 132bEnrichmentTRAF31.79
210Immunodeficiency 18EnrichmentCD3E1.79
211Persistent polyclonal b-cell lymphocytosisEnrichmentCARD111.79
212Immunodeficiency 25EnrichmentCD2471.79
213Spinocerebellar ataxia 14EnrichmentPRKCG1.79
214Immunodeficiency with hyper-igm, type 3EnrichmentCD401.79
215Immunodeficiency 12EnrichmentMALT11.79
216Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.79
217Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.79
218Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB21.79
219Immunodeficiency 53EnrichmentRELB1.79
220Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.79
221Dystonia 33EnrichmentEIF2AK21.79
222Sezary's diseaseEnrichmentBCL101.79
223Cd40 ligand deficiencyEnrichmentCD40LG1.79
224Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.79
225Mucosa-associated lymphomaEnrichmentBCL101.79
226Zap70-related severe combined immunodeficiencyEnrichmentZAP701.79
227Lung cancer susceptibility 3EnrichmentEGFR, FGF101.77
228Rare genetic intellectual disabilityEnrichmentCREBBP, EP3001.72
229Human immunodeficiency virus type 1EnrichmentCXCL12, TLR31.56
230Acromicric dysplasiaEnrichmentLTBP31.54
231Cri-du-chat syndromeEnrichmentSEMA5A1.54
232Lymphatic malformation 1EnrichmentFLT41.54
233Sorsby fundus dystrophyEnrichmentTIMP31.54
234Camurati-engelmann disease 1EnrichmentTGFB11.54
235Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.54
236TrichomegalyEnrichmentFGF51.54
237Thumb deformityEnrichmentCREBBP1.54
238Intracranial hypertension, idiopathicEnrichmentFLT41.54
239Kyphomelic dysplasiaEnrichmentCCN21.54
240Omodysplasia 1EnrichmentGPC61.54
241Pulmonary hypoplasia, primaryEnrichmentFGF101.54
242Dermatofibrosarcoma protuberansEnrichmentPDGFB1.54
243Cervical cancerEnrichmentFGFR31.54
244Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.54
245Parkinson disease 8, autosomal dominantEnrichmentGDF61.54
246Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A1.54
247Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.54
248Aural atresia, congenitalEnrichmentFGFR21.54
249Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.54
250Keratosis, seborrheicEnrichmentFGFR31.54
251Multiple synostoses syndrome 2EnrichmentGDF51.54
252Encephalocraniocutaneous lipomatosisEnrichmentFGFR11.54
253Myopathy, mitochondrial progressive, with congenital cataract and developmental delayEnrichmentGFER1.54
254Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.54
255Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.54
256Silver-russell syndrome 3EnrichmentIGF21.54
257Osteogenesis imperfecta, type xiiiEnrichmentBMP11.54
258Angioma, tuftedEnrichmentKDR1.54
259Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.54
260Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP31.54
261Brachydactyly, type a1, cEnrichmentGDF51.54
262Long qt syndrome 14EnrichmentCALM11.54
263Symphalangism, proximal, 1bEnrichmentGDF51.54
264Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.54
265Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.54
266Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.54
267Waardenburg syndrome, type 2fEnrichmentKITLG1.54
268Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.54
269Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.54
270Menke-hennekam syndrome 2EnrichmentEP3001.54
271Usher syndrome, type ivEnrichmentPRKAR1A1.54
272Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.54
273Kowarski syndromeEnrichmentGH11.54
274Immunodeficiency 127EnrichmentTNF1.54
275Childhood hepatocellular carcinomaEnrichmentMET1.54
276Rela fusion-positive ependymomaEnrichmentRELA1.54
277Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.54
278Split hand-foot malformationEnrichmentFGFR21.54
279Rosette-forming glioneuronal tumorEnrichmentFGFR11.54
280Leprosy 1EnrichmentTLR61.54
281AcrodysostosisEnrichmentPRKAR1A1.54
282Papillary renal cell carcinomaEnrichmentMET1.54
283Camurati-engelmann diseaseEnrichmentTGFB11.54
284Congenital dyserythropoietic anemiaEnrichmentIRAK41.54
285Microphthalmia/coloboma 6EnrichmentGDF61.54
286Fibrolamellar carcinomaEnrichmentPRKACA1.54
287Cervix carcinomaEnrichmentFGFR31.54
288Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.54
289Proximal symphalangismEnrichmentGDF51.54
290Hereditary lymphedema iEnrichmentFLT41.54
291Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.54
292Immunodeficiency 57 with autoinflammationEnrichmentRIPK11.54
293Craniosynostosis 7EnrichmentBMP21.54
294Congenital amegakaryocytic thrombocytopeniaEnrichmentTHPO1.54
295Interfrontal craniofaciosynostosisEnrichmentFGFR11.54
296Intermittent hydrarthrosisEnrichmentTNFRSF1A1.54
297Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.54
298Short stature due to growth hormone qualitative anomalyEnrichmentGH11.54
299Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.54
300Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.54
301Common variable immunodeficiency 12EnrichmentNFKB11.54
302Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.54
303Oculootodental syndromeEnrichmentFADD1.54
304Submucosal cleft palateEnrichmentUBB1.54
305Cleft hard palateEnrichmentUBB1.54
306Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.54
307Behcet syndromeEnrichmentTLR4, TNFRSF1A1.52
308Diffuse large b-cell lymphomaEnrichmentCREBBP, MYD881.52
309Maturity-onset diabetes of the young, type 11EnrichmentBLK1.49
310Immunodeficiency 11aEnrichmentCARD111.49
311Immunodeficiency 37EnrichmentBCL101.49
312Immunodeficiency, common variable, 10EnrichmentNFKB21.49
313Dystonia 16EnrichmentPRKRA1.49
314Diamond-blackfan anemia 12EnrichmentNKIRAS11.49
315Immunodeficiency 11b with atopic dermatitisEnrichmentCARD111.49
316Immunodeficiency, common variable, 4EnrichmentTNFRSF13C1.49
317B-cell expansion with nfkb and t-cell anergyEnrichmentCARD111.49
318CraniosynostosisEnrichmentFGFR2, FGFR31.48
319Tooth agenesisEnrichmentFGFR1, TGFA1.40
320Brachydactyly, type a1EnrichmentGDF51.37
321AchondroplasiaEnrichmentFGFR31.37
322Brachydactyly, type cEnrichmentGDF51.37
323Prognathism, mandibularEnrichmentCSNK2B1.37
324Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.37
325Larsen syndromeEnrichmentFGFR31.37
326Klippel-feil syndrome 1, autosomal dominantEnrichmentGDF61.37
327Exfoliation syndromeEnrichmentLTBP21.37
328Tumoral calcinosis, hyperphosphatemic, familial, 1EnrichmentFGF231.37
329Acromesomelic dysplasia 2aEnrichmentGDF51.37
330Thrombocythemia 1EnrichmentTHPO1.37
331Hypophosphatemic rickets, autosomal dominantEnrichmentFGF231.37
332Acromesomelic dysplasia 2cEnrichmentGDF51.37
333Acromesomelic dysplasia 2bEnrichmentGDF51.37
334Mycosis fungoidesEnrichmentTNFRSF1B1.37
335Uvula, bifidEnrichmentUBB1.37
336Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentTLR81.37
337Muscular dystrophy, duchenne typeEnrichmentLTBP41.37
338Transposition of the great arteries, dextro-loopedEnrichmentBMP21.37
339Cleft soft palateEnrichmentUBB1.37
340Nasopharyngeal carcinomaEnrichmentNFKBIA1.37
341Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.37
342Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.37
343Dyskeratosis congenita, autosomal dominant 6EnrichmentTHPO1.37
344Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.37
345Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.37
346Weill-marchesani syndrome 1EnrichmentLTBP21.37
347Tethered spinal cord syndromeEnrichmentCREBBP1.37
348Autosomal recessive cutis laxa type iEnrichmentLTBP11.37
349Isolated growth hormone deficiency, type ibEnrichmentGH11.37
350HamartomaEnrichmentFGFR31.37
351Testicular germ cell cancerEnrichmentFGFR31.37
352Frontometaphyseal dysplasiaEnrichmentMAP3K71.37
353Immunodeficiency 14EnrichmentPIK3R11.37
354Intraocular pressure quantitative trait locusEnrichmentCREBBP1.37
355Migraine without auraEnrichmentTNF1.37
356SpermatocytomaEnrichmentFGFR31.37
357High bone mass osteogenesis imperfectaEnrichmentBMP11.37
358Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.37
359Geleophysic dysplasiaEnrichmentLTBP31.37
360Renal cell carcinomaEnrichmentMET1.37
361Isolated klippel-feil syndromeEnrichmentGDF61.37
362Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.37
363Saczary syndromeEnrichmentTNFRSF1B1.37
364MalariaEnrichmentIKBKG, TNF1.37
365Mesothelioma, malignantEnrichmentBCL101.32
366Torsion dystonia 1EnrichmentEIF2AK21.32
367T-cell acute lymphoblastic leukemiaEnrichmentBCL101.32
368Tetralogy of fallotEnrichmentFLT4, KDR1.27
369Kaposi sarcomaEnrichmentIL61.25
370Isolated growth hormone deficiency, type iiEnrichmentGH11.25
371Anemia, autoimmune hemolyticEnrichmentTLR81.25
372Microtia-anotiaEnrichmentBMP51.25
373Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.25
374Glaucoma 3, primary infantile, bEnrichmentLTBP21.25
375Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.25
376Carney complex variantEnrichmentPRKAR1A1.25
377Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.25
378EnophthalmosEnrichmentCSNK2B1.25
379SyndactylyEnrichmentCSNK2B1.25
380Weill-marchesani syndromeEnrichmentLTBP21.25
381Cerebral malariaEnrichmentTNF1.25
382Silver-russell syndrome due to a point mutationEnrichmentIGF21.25
383Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.25
384Pediatric systemic lupus erythematosusEnrichmentIRAK11.25
385Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.25
386GliomaEnrichmentFGFR21.25
387Immunodeficiency, common variable, 1EnrichmentNFKB21.20
388Hereditary ataxiaEnrichmentPRKCG1.20
389Bladder cancerEnrichmentEGFR, FGFR31.18
390Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.15
391Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.15
392Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.15
393Rheumatoid arthritis, systemic juvenileEnrichmentIL61.15
394Atrioventricular septal defectEnrichmentBMP51.15
395Insulin-like growth factor iEnrichmentIGF11.15
396Rubinstein-taybi syndrome 2EnrichmentEP3001.15
397Congenital heart defects, multiple types, 4EnrichmentBMP71.15
398Pre-eclampsiaEnrichmentFLT11.15
399Juvenile glaucomaEnrichmentLTBP21.15
400Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.15
401Vascular dementiaEnrichmentTNF1.15
402Diffuse cutaneous systemic sclerosisEnrichmentCCN21.15
403Primary hypereosinophilic syndromeEnrichmentFGFR11.15
404Familial cerebral saccular aneurysmEnrichmentANGPTL61.15
405Long qt syndromeEnrichmentCALM1, CALM21.13
406Lung cancerEnrichmentEGFR, MET1.11
407Follicular lymphomaEnrichmentBCL101.11
408Cowden syndrome 1EnrichmentEGFR1.08
409Split-hand/foot malformation 1EnrichmentFGFR21.08
410Hemihyperplasia, isolatedEnrichmentIGF21.08
411Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.08
412Type 1 diabetes mellitusEnrichmentIL61.08
413Dental anomalies and short statureEnrichmentLTBP31.08
414Anterior segment dysgenesis 5EnrichmentBMP41.08
415Mitochondrial dna depletion syndrome 1EnrichmentTYMP1.08
416Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.08
417Adrenocortical carcinomaEnrichmentPRKAR1A1.08
418Limited sclerodermaEnrichmentCCN21.08
419Breast adenocarcinomaEnrichmentAKT11.08
420HypertrichosisEnrichmentCREBBP1.08
42146,xy disorder of sex developmentEnrichmentFGFR31.08
422Mucopolysaccharidosis, type iiiaEnrichmentCARD141.03
423Mucopolysaccharidosis iiiEnrichmentCARD141.03
424Nevus, epidermalEnrichmentFGFR31.01
425Glaucoma 3, primary congenital, aEnrichmentLTBP21.01
426Silver-russell syndrome 1EnrichmentIGF21.01
427Squamous cell carcinoma, head and neckEnrichmentEGFR1.01
428Waardenburg syndrome, type 2eEnrichmentKITLG1.01
429Renal cell carcinoma, papillary, 1EnrichmentMET1.01
430Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF1.01
431Essential thrombocythemiaEnrichmentTHPO1.01
432Hereditary hemorrhagic telangiectasiaEnrichmentGDF21.01
433Pilomyxoid astrocytomaEnrichmentFGFR11.01
434Overgrowth syndromeEnrichmentPIK3R11.01
435Hypophosphatemic ricketsEnrichmentFGF231.01
436Oligoarticular juvenile idiopathic arthritisEnrichmentCD2470.97
437Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2470.97
438Arthrogryposis, distal, type 1aEnrichmentMET0.96
439Basal ganglia calcification, idiopathic, 1EnrichmentPDGFB0.96
440Isolated growth hormone deficiency, type iaEnrichmentGH10.96
441Mitochondrial dna depletion syndrome 4bEnrichmentTYMP0.96
442Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.96
443Isolated split hand-split foot malformationEnrichmentBTRC0.96
444Lymphoma, non-hodgkin, familialEnrichmentBCL100.91
445Orofacial cleft 1EnrichmentFGF100.91
446Rheumatoid arthritisEnrichmentTLR10.91
447Coronary heart disease 5EnrichmentIKBKG0.91
448Adult hepatocellular carcinomaEnrichmentEGF0.91
449Hypogonadotropic hypogonadismEnrichmentFGFR10.91
450Congenital central hypoventilation syndromeEnrichmentBDNF0.91
451Cowden syndromeEnrichmentAKT10.91
452Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentTYMP0.91
453Renal agenesis, bilateralEnrichmentFGF200.91
454Gastric cancerEnrichmentFGFR2, IL1B0.89
455Familial thoracic aortic aneurysm and aortic dissectionEnrichmentTGFB2, TGFB30.88
456Meier-gorlin syndrome 1EnrichmentFGFR20.87
457Peters-plus syndromeEnrichmentBMP40.87
458Ciliary dyskinesia, primary, 3EnrichmentNFKB10.87
459Stickler syndromeEnrichmentBMP40.87
460Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.87
461Primary bone dysplasiaEnrichmentFGFR30.87
462Immune deficiency diseaseEnrichmentRIPK10.83
463Meningioma, familialEnrichmentPDGFB0.83
464OsteochondrodysplasiaEnrichmentFGFR30.83
465Lung non-small cell carcinomaEnrichmentEGFR0.83
466Heritable pulmonary arterial hypertensionEnrichmentGDF20.83
467Stroke, ischemicEnrichmentPRKCH0.82
468Septooptic dysplasiaEnrichmentFGFR10.80
469Cutis laxaEnrichmentLTBP40.80
470Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.80
471Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.80
472Lip and oral cavity carcinomaEnrichmentEGFR0.80
473Pulmonary hypertension, primary, 1EnrichmentGDF20.76
474Acute promyelocytic leukemiaEnrichmentPRKAR1A0.76
475Alzheimer's diseaseEnrichmentTNF0.76
476Amelogenesis imperfectaEnrichmentLTBP30.76
477Ovarian cancerEnrichmentAKT1, EGFR, MET0.75
478Multiple sclerosisEnrichmentTNFRSF1A0.73
479Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.73
480Heart diseaseEnrichmentCREBBP0.73
481Generalized epilepsy with febrile seizures plusEnrichmentFGF130.73
482Cleft lip/palateEnrichmentBMP40.73
483Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.73
484Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.72
485Renal cell carcinoma, nonpapillaryEnrichmentMET0.71
486Polydactyly, postaxial, type a1EnrichmentEP3000.71
487Wilms tumor 1EnrichmentIGF20.71
488Corpus callosum, agenesis ofEnrichmentCREBBP0.71
489Osteogenesis imperfecta, type iiiEnrichmentBMP10.71
490HydrocephalusEnrichmentFGFR20.71
491Isolated corpus callosum agenesisEnrichmentCREBBP0.71
492Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.71
493Primary ovarian insufficiencyEnrichmentBMP6, KDR0.68
494Sudden infant death syndromeEnrichmentCALM20.66
495Beckwith-wiedemann syndromeEnrichmentIGF20.64
496Ehlers-danlos syndromeEnrichmentTGFB20.62
497Macs syndromeEnrichmentGDF60.60
498Endometrial cancerEnrichmentFGFR20.58
499HepatoblastomaEnrichmentFGFR30.58
500Hepatocellular carcinomaEnrichmentMET0.56
501Myocardial infarctionEnrichmentLTA0.56
502Visceral heterotaxyEnrichmentLEFTY20.56
503Maturity-onset diabetes of the youngEnrichmentBLK0.56
504Brittle bone disorderEnrichmentBMP10.55
505Autoinflammatory diseaseEnrichmentTNFRSF1A0.53
506ScoliosisEnrichmentCREBBP0.53
507Breast cancerEnrichmentAKT1, IL20.53
508Inherited cancer-predisposing syndromeEnrichmentEGFR, MET, PRKAR1A0.53
509Primary ciliary dyskinesiaEnrichmentDRC4, PRKAR1B0.52
510Hydrops fetalis, nonimmuneEnrichmentFLT40.50
511Brugada syndromeEnrichmentSEMA3A0.50
512Hirschsprung disease 1EnrichmentNRG30.46
513Non-immune hydrops fetalisEnrichmentFLT40.44
514Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET0.43
515Cystic fibrosisEnrichmentTGFB10.43
516Connective tissue diseaseEnrichmentFGFR30.43
517Peripheral nervous system diseaseEnrichmentNGF0.43
518NeuropathyEnrichmentNGF0.43
519CakutEnrichmentGDF60.41
520Congenital nervous system abnormalityEnrichmentCREBBP, FGFR30.34
521Nervous system diseaseEnrichmentCREBBP, FGFR30.34
522Type 2 diabetes mellitusEnrichmentIL60.34
523Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B0.33
524Hereditary breast carcinomaEnrichmentAKT10.32
525Sensorineural hearing lossEnrichmentHGF0.30
526ThrombocytopeniaEnrichmentTHPO0.30
527Body mass index quantitative trait locus 11EnrichmentBDNF0.29
528Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B0.29
529HypertelorismEnrichmentFGFR20.27
530Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentKITLG0.27
531Hereditary breast ovarian cancer syndromeEnrichmentRIPK10.26
532Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentFGF80.25
533Undetermined early-onset epileptic encephalopathyEnrichmentFGF120.25
534AutismEnrichmentCREBBP0.19
535Mitochondrial diseaseEnrichmentGFER0.14
536Leber plus diseaseEnrichmentGDF60.12
537MicrocephalyEnrichmentEP3000.08
538Complex neurodevelopmental disorderEnrichmentCSNK2A10.08
539Hereditary retinal dystrophyEnrichmentTIMP30.01
540Fundus dystrophyEnrichmentTIMP30.01

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