B Cell Receptor Signaling Pathway

No Pathway Network information available for B Cell Receptor Signaling Pathway

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

Disorders associated with B Cell Receptor Signaling Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF110.45
2Severe combined immunodeficiencyEnrichmentCD3D, CD3E, CD3G, IKBKB, LCK, MALT1, PTPRC, ZAP7010.34
3Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF19.27
4RasopathyEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF18.87
5Lung non-small cell carcinomaEnrichmentHRAS, KRAS, MAP2K1, NRAS, PIK3CA7.79
6HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN7.64
7Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA6.80
8Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, RAF16.80
9Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.88
10Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.65
11Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K25.65
12Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K25.65
13Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA4.96
14Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.74
15Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS, PTEN4.72
16Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA4.72
17Follicular thyroid carcinomaEnrichmentHRAS, NRAS, PTEN4.72
18Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF14.51
19Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA4.34
20Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.34
21Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA4.19
22Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.16
23Bladder cancerEnrichmentHRAS, KRAS, PIK3CA, PTEN4.03
24Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, PTPN113.98
25Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, PTPN113.93
26MeningiomaEnrichmentAKT1, PIK3CA, PTEN3.93
27Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.84
28MyxofibrosarcomaEnrichmentCREB3L1, CREB3L23.84
29T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD3D, CD3E3.84
30Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS3.69
31Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.69
32Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.54
33Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, CDC423.54
34Breast cancerEnrichmentAKT1, JUN, KRAS, PIK3CA, PTEN3.40
35Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.39
36Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF13.39
37Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA, PTEN3.32
38Cowden syndrome 1EnrichmentPIK3CA, PTEN3.00
39Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA3.00
40Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.85
41Gallbladder cancerEnrichmentKRAS, PIK3CA2.85
42Pilomyxoid astrocytomaEnrichmentKRAS, RAF12.85
43Overgrowth syndromeEnrichmentMTOR, PIK3R12.85
44Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS2.76
45Non-immune hydrops fetalisEnrichmentHRAS, KRAS, PTPN112.67
46Combined immunodeficiencyEnrichmentMALT1, ZAP702.59
47Combined t cell and b cell immunodeficiencyEnrichmentMALT1, ZAP702.59
48Combined t and b cell immunodeficiencyEnrichmentMALT1, ZAP702.59
49Specific learning disabilityEnrichmentMAPK1, PTPN112.44
50Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA2.37
51Gastric cancerEnrichmentKRAS, PIK3CA, PTEN2.26
52Colorectal cancerEnrichmentAKT1, NRAS, PIK3CA, PIK3R12.22
53Lynch syndromeEnrichmentKRAS, PIK3CA2.17
54MacrodactylyEnrichmentPIK3CA2.15
55Proteus syndromeEnrichmentAKT12.15
56Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.15
57Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.15
58Thrombocytopenia 1EnrichmentWAS2.15
59Focal segmental glomerulosclerosis 1EnrichmentACTN42.15
60Noonan syndrome 5EnrichmentRAF12.15
61Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.15
62Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN22.15
63Melorheostosis, isolatedEnrichmentMAP2K12.15
64Megalencephaly, autosomal dominantEnrichmentPIK3CA2.15
65Cardiomyopathy, dilated, 1nnEnrichmentRAF12.15
66Cowden syndrome 5EnrichmentPIK3CA2.15
67Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.15
68Osteogenesis imperfecta, type xviEnrichmentCREB3L12.15
69Frontometaphyseal dysplasia 2EnrichmentMAP3K72.15
70Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.15
71Vitreoretinopathy, neovascular inflammatoryEnrichmentCAPN52.15
72Cerebral cavernous malformations 4EnrichmentPIK3CA2.15
73Immunodeficiency 15bEnrichmentIKBKB2.15
74Noonan syndrome 13EnrichmentMAPK12.15
75Immunodeficiency 81EnrichmentLCP22.15
76Immunodeficiency 15aEnrichmentIKBKB2.15
77Immunodeficiency 92EnrichmentREL2.15
78Developmental and epileptic encephalopathy 91EnrichmentPPP3CA2.15
79Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC32.15
80Congenital myopathy 8EnrichmentACTN22.15
81Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA2.15
82Pulmonary hypertension, primary, 6EnrichmentCAPNS12.15
83Immunodeficiency 48EnrichmentZAP702.15
84Short syndromeEnrichmentPIK3R12.15
85Okt4 epitope deficiencyEnrichmentCD42.15
86Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.15
87Immunodeficiency 18EnrichmentCD3E2.15
88Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.15
89Hemifacial myohyperplasiaEnrichmentPIK3CA2.15
90Actn3 deficiencyEnrichmentACTN32.15
91Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.15
92Spinocerebellar ataxia 14EnrichmentPRKCG2.15
93MelorheostosisEnrichmentMAP2K12.15
94Leopard syndrome 2EnrichmentRAF12.15
95Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.15
96Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.15
97Long qt syndrome 16EnrichmentCALM32.15
98Cowden syndrome 6EnrichmentAKT12.15
99Bleeding disorder, platelet-type, 15EnrichmentACTN12.15
100Immunodeficiency 12EnrichmentMALT12.15
101Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.15
102Immunodeficiency 123 with hpv-related verrucosisEnrichmentCD282.15
103Immunodeficiency 105, severe combinedEnrichmentPTPRC2.15
104Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP702.15
105Immunodeficiency 22EnrichmentLCK2.15
106Was-related disordersEnrichmentWAS2.15
107Takenouchi-kosaki syndromeEnrichmentCDC422.15
108Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN22.15
109Immunodeficiency 79EnrichmentCD42.15
110Cd45 deficiencyEnrichmentPTPRC2.15
111Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.15
112TrigonitisEnrichmentRAF12.15
113Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.15
114Immunodeficiency 19, severe combinedEnrichmentCD3D2.15
115Long qt syndrome 15EnrichmentCALM22.15
116HypospadiasEnrichmentPIK3CA2.15
117Capillary hemangiomaEnrichmentAKT32.15
118Cerebral cavernous malformations 5EnrichmentMAP3K32.15
119Rare venous malformationEnrichmentPIK3CA2.15
120Progressive muscular atrophyEnrichmentCAPN32.15
121Diaphragmatic eventrationEnrichmentPIK3CA2.15
122Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.15
123Capillary leak syndromeEnrichmentTLN12.15
124Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.15
125Nocarh syndromeEnrichmentCDC422.15
126Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.15
127Immunodeficiency 19EnrichmentCD3D2.15
128Rare combined vascular malformationEnrichmentPIK3CA2.15
129Cavernous lymphangiomaEnrichmentPIK3CA2.15
130Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.15
131Qualitative or quantitative defects of calpainEnrichmentCAPN32.15
132Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.15
133Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.15
134Verrucous hemangiomaEnrichmentMAP3K32.15
135Eccrine angiomatous hamartomaEnrichmentPIK3CA2.15
136Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.15
137Macrodactyly of toeEnrichmentPIK3CA2.15
138Zap70-related severe combined immunodeficiencyEnrichmentZAP702.15
139Akt2-related familial partial lipodystrophyEnrichmentAKT22.15
140RhabdomyosarcomaEnrichmentHRAS, PTEN2.12
141Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, PPP3CA2.08
142MetachondromatosisEnrichmentPTPN112.08
143Oculoectodermal syndromeEnrichmentKRAS2.08
144Vacterl association with hydrocephalusEnrichmentPTEN2.08
145Deafness, autosomal recessive 26EnrichmentGAB12.08
146Leopard syndrome 1EnrichmentPTPN112.08
147Melanosis, neurocutaneousEnrichmentNRAS2.08
148Noonan syndrome 6EnrichmentNRAS2.08
149Immunodeficiency 82 with systemic inflammationEnrichmentSYK2.08
150Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.08
151Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.08
152Isolated growth hormone deficiency type iiiEnrichmentBTK2.08
153Deafness, dystonia, and cerebral hypomyelinationEnrichmentBCAP312.08
154Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.08
155Papillary tumor of the pineal regionEnrichmentPTEN2.08
156Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.08
157Immunodeficiency with hyper-igm, type 3EnrichmentCD402.08
158Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B2.08
159Immunodeficiency, common variable, 3EnrichmentCD192.08
160Glioma susceptibility 2EnrichmentPTEN2.08
161Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.08
162Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.08
163Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.08
164ColitisEnrichmentSYK2.08
1655q14.3 microdeletion syndromeEnrichmentMEF2C2.08
166Congenital pulmonary airway malformationEnrichmentKRAS2.08
167Vegetative pyoderma gangrenosumEnrichmentPTPN62.08
168Bullous pyoderma gangrenosumEnrichmentPTPN62.08
169Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.08
170Pustular pyoderma gangrenosumEnrichmentPTPN62.08
171Phakomatosis pigmentokeratoticaEnrichmentHRAS2.08
172Mef2c-related disorderEnrichmentMEF2C2.08
173Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.08
174Classic pyoderma gangrenosumEnrichmentPTPN62.08
175Neurocutaneous melanocytosisEnrichmentNRAS2.08
176Malignant astrocytomaEnrichmentPTPN112.08
177Ovarian cancerEnrichmentAKT1, KRAS, PIK3CA, PTEN2.00
178Diffuse large b-cell lymphomaEnrichmentBTK, PTEN1.97
179Autism spectrum disorderEnrichmentMAP2K1, MEF2C, PTEN, PTPN111.89
180Endometrial cancerEnrichmentPIK3CA, PTEN1.89
181Scoliosis, isolated 1EnrichmentMAPK71.86
182Neutropenia, severe congenital, x-linkedEnrichmentWAS1.86
183Stormorken syndromeEnrichmentORAI11.86
184Ovarian germ cell cancerEnrichmentCBL1.86
185Wiskott-aldrich syndromeEnrichmentWAS1.86
186Histiocytoma, angiomatoid fibrousEnrichmentCREB11.86
187Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.86
188Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.86
189Keratosis, seborrheicEnrichmentPIK3CA1.86
190Immunodeficiency 9EnrichmentORAI11.86
191Noonan syndrome 8EnrichmentPIK3CA1.86
192Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.86
193Spastic paraplegia 76, autosomal recessiveEnrichmentCAPN11.86
194Long qt syndrome 14EnrichmentCALM11.86
195Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.86
196Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.86
197Rela fusion-positive ependymomaEnrichmentRELA1.86
198Myopathy, tubular aggregate, 2EnrichmentORAI11.86
199Senior-loken syndrome 7EnrichmentAKT31.86
200Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.86
201Immunodeficiency 104, severe combinedEnrichmentPTPRC1.86
202Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.86
203Immunodeficiency 17EnrichmentCD3G1.86
204Immune system diseaseEnrichmentCDC421.86
205Bardet-biedl syndrome 16EnrichmentAKT31.86
206Immunodeficiency 52EnrichmentLAT1.86
207Malignant germ cell tumor of ovaryEnrichmentCBL1.86
208Common variable immunodeficiency 12EnrichmentNFKB11.86
209Tafro syndromeEnrichmentMAP2K21.86
210Costello syndromeEnrichmentHRAS1.78
211Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK1.78
212Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.78
213Agammaglobulinemia, x-linkedEnrichmentBTK1.78
214Werner syndromeEnrichmentPTPN111.78
215Cebalid syndromeEnrichmentMTOR1.78
216Intravascular large b-cell lymphomaEnrichmentBCL61.78
217Smith-kingsmore syndromeEnrichmentMTOR1.78
218Common variable immunodeficiency phenotype due to cd19/cd81 deficiencyEnrichmentCD191.78
219CaddsEnrichmentBCAP311.78
220Vacterl with hydrocephalusEnrichmentPTEN1.78
221ArthritisEnrichmentSYK1.78
222Primary mediastinal large b-cell lymphomaEnrichmentBCL61.78
223Juvenile polyposis of infancyEnrichmentPTEN1.78
224Wooly hair nevusEnrichmentHRAS1.78
225Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN111.71
226Long qt syndromeEnrichmentCALM1, CALM21.70
227Pompe disease, infantile-onsetEnrichmentPIK3CA1.68
228Mycosis fungoidesEnrichmentCD281.68
229Nasopharyngeal carcinomaEnrichmentNFKBIA1.68
230Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.68
231Muscular dystrophy, limb-girdle, autosomal dominant 4EnrichmentCAPN31.68
232Autosomal recessive limb-girdle muscular dystrophy type 2aEnrichmentCAPN31.68
233Intrinsic cardiomyopathyEnrichmentACTN21.68
234Frontometaphyseal dysplasiaEnrichmentMAP3K71.68
235Immunodeficiency 14EnrichmentPIK3R11.68
236Melanoma of soft tissueEnrichmentCREB11.68
237KeratoacanthomaEnrichmentPIK3CA1.68
238Saczary syndromeEnrichmentCD281.68
239Familial hypertrophic cardiomyopathyEnrichmentACTN2, RAF11.65
240Prostate cancerEnrichmentPIK3CA, PTEN1.62
241Jacobsen syndromeEnrichmentETS11.61
242Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.61
243Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.61
244Agammaglobulinemia 1EnrichmentBTK1.61
245High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL61.61
246Laryngeal squamous cell carcinomaEnrichmentPTEN1.61
247SpermatocytomaEnrichmentHRAS1.61
248Tricuspid valve insufficiencyEnrichmentPTPN111.61
249Left ventricular noncompactionEnrichmentACTN2, RAF11.60
250Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.56
251Auriculocondylar syndrome 1EnrichmentGNAI31.56
252Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.56
253Achromatopsia 4EnrichmentGNAI31.56
254Congenital generalized lipodystrophyEnrichmentFOS1.56
255Hereditary ataxiaEnrichmentPRKCG1.56
256Cerebrovascular diseaseEnrichmentPIK3CA1.56
257Familial cerebral cavernous malformationsEnrichmentPIK3CA1.56
258Lung cancerEnrichmentKRAS, PIK3CA1.54
259Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.48
260Focal cortical dysplasia, type iiEnrichmentMTOR1.48
261Lung sarcomatoid carcinomaEnrichmentKRAS1.48
262Pilocytic astrocytomaEnrichmentKRAS1.48
263Epidermolytic nevusEnrichmentHRAS1.48
264Isolated focal cortical dysplasia type iiEnrichmentMTOR1.48
265GliomaEnrichmentPTEN1.48
266Lymphoma, mucosa-associated lymphoid typeEnrichmentMALT11.46
267Capillary malformations, congenitalEnrichmentPIK3CA1.46
268Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentCAPN31.46
269Myeloproliferative neoplasmEnrichmentCBL1.46
270Histiocytoid hemangiomaEnrichmentFOS1.46
271Aggressive systemic mastocytosisEnrichmentCBL1.46
272Macrocephaly/autism syndromeEnrichmentPTEN1.39
273Follicular lymphomaEnrichmentBCL61.39
274LymphomaEnrichmentPTPN111.39
275HemangiomaEnrichmentPTEN1.39
276Acute megakaryocytic leukemiaEnrichmentPTEN1.39
277Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.38
278Muscular dystrophy, limb-girdle, autosomal recessive 1EnrichmentCAPN31.38
279Hemihyperplasia, isolatedEnrichmentPIK3CA1.38
280Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.38
281Systemic lupus erythematosusEnrichmentETS1, FCGR2B1.38
282Leukemia, acute myeloidEnrichmentKRAS, NRAS1.36
283ThrombocytopeniaEnrichmentACTN1, WAS1.35
284MegacolonEnrichmentAKT31.32
285Common variable immunodeficiencyEnrichmentNFKB11.32
286Patent ductus arteriosusEnrichmentPTPN111.31
287Familial isolated dilated cardiomyopathyEnrichmentACTN2, RAF11.27
288Myopathy, tubular aggregate, 1EnrichmentORAI11.26
289Congenital muscular dystrophyEnrichmentCAPN31.26
290Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.26
291Squamous cell carcinoma, head and neckEnrichmentPTEN1.24
292Renal cell carcinoma, papillary, 1EnrichmentMTOR1.24
293Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.21
294Adult hepatocellular carcinomaEnrichmentPIK3CA1.21
295Limb-girdle muscular dystrophyEnrichmentCAPN31.21
296Stroke, ischemicEnrichmentPRKCH1.17
297Ciliary dyskinesia, primary, 3EnrichmentNFKB11.17
298PolymicrogyriaEnrichmentAKT31.17
299Autosomal dominant macrothrombocytopeniaEnrichmentACTN11.17
300Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.17
301Migraine with or without aura 1EnrichmentCAPN31.13
302Hereditary breast ovarian cancer syndromeEnrichmentKRAS, PTEN1.11
303Myeloma, multipleEnrichmentKRAS, PIK3R21.10
304MelanomaEnrichmentPTEN1.10
305Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentCAPN31.09
306MicrocephalyEnrichmentCAMK2B, MAPK1, PTPN111.08
307Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.06
308Nk-cell enteropathyEnrichmentPIK3CB1.06
309Pectus excavatumEnrichmentPTPN111.06
310Immune deficiency diseaseEnrichmentSYK1.06
311Meningioma, familialEnrichmentPTEN1.06
312Uterine corpus cancerEnrichmentPTEN1.06
313EpicanthusEnrichmentPTPN111.02
314Congenital long qt syndromeEnrichmentPTPN111.02
315Osteogenesis imperfecta, type iiiEnrichmentCREB3L11.00
316Protein-deficiency anemiaEnrichmentNRAS0.99
317Creatine phosphokinase, elevated serumEnrichmentCAPN30.97
318Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN20.97
319Isolated elevated serum creatine phosphokinase levelsEnrichmentCAPN30.97
320GliosarcomaEnrichmentNFKBIA0.97
321Dilated cardiomyopathyEnrichmentACTN2, RAF10.97
322Lung cancer susceptibility 3EnrichmentKRAS0.96
323Sudden infant death syndromeEnrichmentCALM20.95
324Giant cell glioblastomaEnrichmentNFKBIA0.95
325Renal cell carcinoma, nonpapillaryEnrichmentMTOR0.93
326Rare genetic intellectual disabilityEnrichmentMTOR0.93
327Heart, malformation ofEnrichmentMAPK10.92
328Autosomal recessive limb-girdle muscular dystrophyEnrichmentCAPN30.90
329Patent foramen ovaleEnrichmentPTPN110.85
330Hepatocellular carcinomaEnrichmentPIK3CA0.84
331Arteriovenous malformations of the brainEnrichmentKRAS0.83
332Brittle bone disorderEnrichmentCREB3L10.83
333Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.81
334Muscular dystrophyEnrichmentCAPN30.81
335MalariaEnrichmentFCGR2B0.76
336ScoliosisEnrichmentPTPN110.74
337Pancreatic cancerEnrichmentKRAS0.72
338StrabismusEnrichmentPTPN110.69
339Genetic steroid-resistant nephrotic syndromeEnrichmentACTN40.67
340Congenital nervous system abnormalityEnrichmentCAMK2B, PTEN0.66
341Nervous system diseaseEnrichmentCAMK2B, PTEN0.66
342MyopathyEnrichmentCAPN30.61
343DystoniaEnrichmentCAMK2B0.60
344Type 2 diabetes mellitusEnrichmentAKT20.59
345Hypertrophic cardiomyopathyEnrichmentACTN20.58
346Inherited cancer-predisposing syndromeEnrichmentPTEN, PTPN110.52
347HypertelorismEnrichmentPIK3CA0.51
348Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA0.49
349Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.43
350Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.41
351Autosomal recessive non-syndromic intellectual disabilityEnrichmentEZR0.41
352AutismEnrichmentCAMK2G0.34
353Complex neurodevelopmental disorderEnrichmentRAC30.23

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