Ras signaling

No Pathway Network information available for Ras signaling

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

Disorders associated with Ras signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, PTPN11, RAF1, RASA2, RRAS, RRAS2, SHOC2, SOS1, SOS216.00
2RasopathyEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PTPN11, RAF1, RRAS2, SHOC2, SOS1, SOS216.00
3Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS110.99
4Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, MAP2K1, NRAS, PIK3CA8.62
5Nevus, epidermalEnrichmentFGFR3, HRAS, KRAS, NRAS, PIK3CA8.06
6Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, RAF1, SOS18.06
7Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA, RASA1, TEK7.29
8Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA, RASA1, TEK7.00
9Juvenile myelomonocytic leukemiaEnrichmentKRAS, NF1, NRAS, PTPN11, RRAS6.51
10Lip and oral cavity carcinomaEnrichmentABL1, EGFR, HRAS, KIT, PIK3CA6.51
11Lung squamous cell carcinomaEnrichmentEGFR, FGFR3, KRAS, PIK3CA6.33
12Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA, RASA15.96
13Pilomyxoid astrocytomaEnrichmentFGFR1, KRAS, NTRK2, RAF15.96
14Bladder cancerEnrichmentEGFR, FGFR3, HRAS, KRAS, NF1, PIK3CA5.69
15Ovarian cancerEnrichmentAKT1, EGFR, KIT, KRAS, MET, NTRK1, PDGFRA, PIK3CA, RRAS25.06
16Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.02
17Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K25.02
18Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.02
19Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K25.02
20Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS5.02
21Colorectal cancerEnrichmentAKT1, FGFR2, FGFR3, MET, NRAS, PIK3CA, PIK3R1, PLA2G2A4.65
22Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB4.63
23MicrocephalyEnrichmentABL1, GNB1, GRIN2B, IGF1R, MAPK1, PAK3, PLA2G6, PTPN11, SYNGAP14.37
24Hemangioma, capillary infantileEnrichmentFLT4, KDR, RASA14.33
25Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA4.33
26Lung cancerEnrichmentEGFR, FASLG, KRAS, MET, PIK3CA4.20
27Leukemia, chronic myeloidEnrichmentABL1, KRAS, NRAS4.09
28Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF13.89
29Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.89
30Keratosis, seborrheicEnrichmentFGFR3, PIK3CA3.74
31Pfeiffer syndromeEnrichmentFGFR1, FGFR23.74
32Jackson-weiss syndromeEnrichmentFGFR1, FGFR23.74
33Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS3.74
34Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.74
35Rosette-forming glioneuronal tumorEnrichmentFGFR1, PIK3CA3.74
36Immune system diseaseEnrichmentCDC42, PIK3CD3.74
37Crouzon syndromeEnrichmentFGFR2, FGFR33.27
38Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR33.27
39Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS3.27
40Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.27
41Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.27
42Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.27
43Testicular germ cell cancerEnrichmentFGFR3, KIT3.27
44Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.27
45SpermatocytomaEnrichmentFGFR3, HRAS3.27
46Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS, NTRK13.23
47Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, PTPN113.18
48Non-immune hydrops fetalisEnrichmentFLT4, HRAS, KRAS, PTPN113.12
49Myeloma, multipleEnrichmentFGFR3, FLT3, KRAS, NF1, PIK3R23.03
50Neurofibromatosis-noonan syndromeEnrichmentMAP2K2, NF12.97
51Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R22.97
52Saethre-chotzen syndromeEnrichmentFGFR2, FGFR32.97
53Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC42, PTPN112.97
54Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF12.97
55Pilocytic astrocytomaEnrichmentKRAS, NF12.97
56Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT3, KIT2.97
57GliosarcomaEnrichmentEGFR, FGFR1, FGFR32.93
58Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR32.85
59Complex neurodevelopmental disorderEnrichmentGNB2, GRIN2B, PAK3, RAC3, RALA, SYNGAP1, TIAM12.84
60Hemifacial hyperplasiaEnrichmentFGFR2, FGFR32.75
61Capillary malformations, congenitalEnrichmentPIK3CA, RASA12.75
62Acute myeloid leukemia with maturationEnrichmentFLT3, KIT2.75
63HemimegalencephalyEnrichmentAKT3, PIK3CA2.75
64Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT3, KIT2.75
65Leukemia, acute myeloidEnrichmentFLT3, KIT, KRAS, NRAS2.70
66CraniosynostosisEnrichmentFGFR2, FGFR3, GRIN2B2.63
67Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA12.58
68Cowden syndrome 1EnrichmentEGFR, PIK3CA2.58
69Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA2.58
70Testicular germ cell tumorEnrichmentFGFR3, KIT2.58
7146,xy disorder of sex developmentEnrichmentFGFR3, INSR2.58
72Gastric cancerEnrichmentFGFR2, KRAS, NF1, PIK3CA2.58
73Breast cancerEnrichmentAKT1, GNG3, KRAS, PIK3CA, SHC12.47
74Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS2.44
75Gastrointestinal stromal tumorEnrichmentKIT, PDGFRA2.44
76Gallbladder cancerEnrichmentKRAS, PIK3CA2.44
77Follicular thyroid carcinomaEnrichmentHRAS, NRAS2.44
78B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, FLT32.44
79Hydrops fetalis, nonimmuneEnrichmentFLT4, HRAS, PTPN112.30
80Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.21
81Cowden syndromeEnrichmentAKT1, PIK3CA2.21
82Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.12
83Inherited cancer-predisposing syndromeEnrichmentEGFR, KIT, MET, NF1, PDGFRA, PTPN112.05
84Pectus excavatumEnrichmentPTPN11, SHOC22.04
85Leukemia, acute lymphoblasticEnrichmentFLT3, GNB12.04
86Specific learning disabilityEnrichmentMAPK1, PTPN112.04
87Severe combined immunodeficiencyEnrichmentIKBKB, STK4, ZAP702.01
88MeningiomaEnrichmentAKT1, PIK3CA1.96
89Nk-cell enteropathyEnrichmentIGF1R, PIK3CB1.89
90HypochondroplasiaEnrichmentFGFR31.87
91MacrodactylyEnrichmentPIK3CA1.87
92Proteus syndromeEnrichmentAKT11.87
93Beare-stevenson cutis gyrata syndromeEnrichmentFGFR21.87
94Osteoglophonic dysplasiaEnrichmentFGFR11.87
95MetachondromatosisEnrichmentPTPN111.87
96Cystic angiomatosis of bone, diffuseEnrichmentRASA11.87
97Thanatophoric dysplasia, type iEnrichmentFGFR31.87
98Trigonocephaly 1EnrichmentFGFR11.87
99Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.87
100Donohue syndromeEnrichmentINSR1.87
101Epilepsy, focal, with speech disorder and with or without impaired intellectual developmentEnrichmentGRIN2A1.87
102Oculoectodermal syndromeEnrichmentKRAS1.87
103Muenke syndromeEnrichmentFGFR31.87
104Intellectual developmental disorder, x-linked 30EnrichmentPAK31.87
105Premature aging syndrome, penttinen typeEnrichmentPDGFRB1.87
106Incontinentia pigmentiEnrichmentIKBKG1.87
107Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR1.87
108Deafness, autosomal recessive 26EnrichmentGAB11.87
109Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG1.87
110Noonan syndrome 5EnrichmentRAF11.87
111Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR1.87
112Osteopetrosis and infantile neuroaxonal dystrophyEnrichmentPLA2G61.87
113Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR1.87
114Noonan syndrome 4EnrichmentSOS11.87
115Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA1.87
116Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.87
117Mastocytosis, cutaneousEnrichmentKIT1.87
118Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR21.87
119Melorheostosis, isolatedEnrichmentMAP2K11.87
120Megalencephaly, autosomal dominantEnrichmentPIK3CA1.87
121Apert syndromeEnrichmentFGFR21.87
122Leopard syndrome 1EnrichmentPTPN111.87
123Cardiomyopathy, dilated, 1nnEnrichmentRAF11.87
124Cowden syndrome 5EnrichmentPIK3CA1.87
125Cardiac valvular dysplasia 1EnrichmentPLD11.87
126Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.87
127Myofibromatosis, infantile, 1EnrichmentPDGFRB1.87
128Melanosis, neurocutaneousEnrichmentNRAS1.87
129Fleck retina, familial benignEnrichmentPLA2G51.87
130Thanatophoric dysplasia, type iiEnrichmentFGFR31.87
131Noonan syndrome 9EnrichmentSOS21.87
132Bleeding disorder, platelet-type, 18EnrichmentRASGRP21.87
133Noonan syndrome 6EnrichmentNRAS1.87
134Fetal encasement syndromeEnrichmentCHUK1.87
135Gist-plus syndromeEnrichmentPDGFRA1.87
136Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR31.87
137Developmental and epileptic encephalopathy 27EnrichmentGRIN2B1.87
138Bent bone dysplasia syndrome 1EnrichmentFGFR21.87
139Hiatt-neu-cooper neurodevelopmental syndromeEnrichmentRALA1.87
140Noonan syndrome 11EnrichmentMRAS1.87
141Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP11.87
142Cerebral cavernous malformations 4EnrichmentPIK3CA1.87
143Immunodeficiency 15bEnrichmentIKBKB1.87
144Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.87
145Noonan syndrome 13EnrichmentMAPK11.87
146Developmental and epileptic encephalopathy 58EnrichmentNTRK21.87
147Immunodeficiency 15aEnrichmentIKBKB1.87
148Immunodeficiency 92EnrichmentREL1.87
149Neurodegeneration with brain iron accumulation 2aEnrichmentPLA2G61.87
150Venous malformations, multiple cutaneous and mucosalEnrichmentTEK1.87
151Knobloch syndrome 2EnrichmentPAK21.87
152Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.87
153Immunodeficiency 48EnrichmentZAP701.87
154Short syndromeEnrichmentPIK3R11.87
155Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.87
156Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG1.87
157Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.87
158Osteofibrous dysplasiaEnrichmentMET1.87
159Immunodeficiency 110 with lymphoproliferationEnrichmentSTK41.87
160Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA1.87
161Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.87
162Cardioacrofacial dysplasia 2EnrichmentPRKACB1.87
163Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.87
164Deafness, autosomal recessive 97EnrichmentMET1.87
165Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.87
166Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.87
167Crouzon syndrome with acanthosis nigricansEnrichmentFGFR31.87
168Hemifacial myohyperplasiaEnrichmentPIK3CA1.87
169Noonan syndrome-like disorder with loose anagen hair 1EnrichmentSHOC21.87
170Parkinson disease 14, autosomal recessiveEnrichmentPLA2G61.87
171Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveEnrichmentGRIN11.87
172Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.87
173Spinocerebellar ataxia 14EnrichmentPRKCG1.87
174MelorheostosisEnrichmentMAP2K11.87
175Autism 9EnrichmentMET1.87
176Neurodegeneration with brain iron accumulation 2bEnrichmentPLA2G61.87
177Leopard syndrome 2EnrichmentRAF11.87
178Intellectual developmental disorder, autosomal dominant 6, with or without seizuresEnrichmentGRIN2B1.87
179Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB1.87
180Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A1.87
181Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.87
182Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.87
183Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.87
184Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B1.87
185Long qt syndrome 16EnrichmentCALM31.87
186Cowden syndrome 6EnrichmentAKT11.87
187Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.87
188Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.87
189Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB1.87
190Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.87
191Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.87
192Acute myeloid leukemia with minimal differentiationEnrichmentFLT31.87
193Developmental and epileptic encephalopathy 101EnrichmentGRIN11.87
194Obesity, hyperphagia, and developmental delayEnrichmentNTRK21.87
195Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominantEnrichmentGRIN11.87
196Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR31.87
197Kosaki overgrowth syndromeEnrichmentPDGFRB1.87
198Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.87
199Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP701.87
200Hartsfield syndromeEnrichmentFGFR11.87
201Congenital heart defects, multiple types, 7EnrichmentFLT41.87
202Cardioacrofacial dysplasia 1EnrichmentPRKACA1.87
203Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A1.87
204Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.87
205Takenouchi-kosaki syndromeEnrichmentCDC421.87
206Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.87
207Glaucoma 3, primary congenital, eEnrichmentTEK1.87
208Bartsocas-papas syndrome 2EnrichmentCHUK1.87
209Sick sinus syndrome 4EnrichmentGNB21.87
210Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R1.87
211Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM11.87
212Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB1.87
213Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.87
214Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.87
215Chronic mast cell leukemiaEnrichmentKIT1.87
216TrigonitisEnrichmentRAF11.87
217Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.87
218Tufted angioma of skinEnrichmentKDR1.87
219Plexiform neurofibromaEnrichmentNF11.87
220Arthrogryposis, distal, type 11EnrichmentMET1.87
221NeurofibromaEnrichmentNF11.87
222Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR31.87
223Long qt syndrome 15EnrichmentCALM21.87
224Csf1r-related disorderEnrichmentCSF1R1.87
225Lipodystrophy, familial partial, type 9EnrichmentPLAAT31.87
226HypospadiasEnrichmentPIK3CA1.87
227Bockenheimer syndromeEnrichmentTEK1.87
228Capillary hemangiomaEnrichmentAKT31.87
229NeurofibromatosisEnrichmentNF11.87
230Grin2b-related neurodevelopmental disorderEnrichmentGRIN2B1.87
231Landau-kleffner syndromeEnrichmentGRIN2A1.87
232Chromosome 17q11.2 deletion syndromeEnrichmentNF11.87
233Isolated bone marrow mastocytosisEnrichmentKIT1.87
234Congenital pulmonary airway malformationEnrichmentKRAS1.87
235Smoldering systemic mastocytosisEnrichmentKIT1.87
236Optic nerve gliomaEnrichmentNF11.87
237Rare venous malformationEnrichmentPIK3CA1.87
238Immunodeficiency 64EnrichmentRASGRP11.87
239Gorham's diseaseEnrichmentRASA11.87
240Diaphragmatic eventrationEnrichmentPIK3CA1.87
241Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.87
242Fgfr3-related chondrodysplasiaEnrichmentFGFR31.87
243Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP11.87
244Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.87
245Nocarh syndromeEnrichmentCDC421.87
246MastocytosisEnrichmentKIT1.87
247Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.87
248Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.87
249Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR31.87
250Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R1.87
251Rare combined vascular malformationEnrichmentPIK3CA1.87
252Cavernous lymphangiomaEnrichmentPIK3CA1.87
253Intellectual disability, autosomal dominant 8EnrichmentGRIN11.87
254Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A1.87
255Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.87
256Cutaneous mastocytomaEnrichmentKIT1.87
257Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutationEnrichmentGRIN2A1.87
258Grin2a-related disordersEnrichmentGRIN2A1.87
259Typical urticaria pigmentosaEnrichmentKIT1.87
260Phakomatosis pigmentokeratoticaEnrichmentHRAS1.87
261Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.87
262Nodular urticaria pigmentosaEnrichmentKIT1.87
263Hartsfield-bixler-demyer syndromeEnrichmentFGFR11.87
264Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.87
265Pseudoxanthomatous diffuse cutaneous mastocytosisEnrichmentKIT1.87
266Telangiectasia macularis eruptiva perstansEnrichmentKIT1.87
267Acute mast cell leukemiaEnrichmentKIT1.87
268Eccrine angiomatous hamartomaEnrichmentPIK3CA1.87
269Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.87
270Non-syndromic unicoronal craniosynostosisEnrichmentFGFR21.87
271Familial benign flecked retinaEnrichmentPLA2G51.87
272Plaque-form urticaria pigmentosaEnrichmentKIT1.87
273Macrodactyly of toeEnrichmentPIK3CA1.87
274Neurocutaneous melanocytosisEnrichmentNRAS1.87
275Bullous diffuse cutaneous mastocytosisEnrichmentKIT1.87
276Zap70-related severe combined immunodeficiencyEnrichmentZAP701.87
277Akt2-related familial partial lipodystrophyEnrichmentAKT21.87
278Malignant astrocytomaEnrichmentPTPN111.87
279Testis seminomaEnrichmentKIT1.87
280Lung cancer susceptibility 3EnrichmentEGFR, KRAS1.83
281Cerebral palsyEnrichmentGNB1, GRIN2B, PDGFRB1.81
282Autism spectrum disorderEnrichmentGNB1, GRIN2B, MAP2K1, NF1, PTPN111.80
283HydrocephalusEnrichmentFGFR2, PDGFRB1.77
284Lynch syndromeEnrichmentKRAS, PIK3CA1.77
285RhabdomyosarcomaEnrichmentHRAS, NF11.72
286West syndromeEnrichmentGRIN1, GRIN2B, NTRK21.67
287Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA1.67
288Arteriovenous malformations of the brainEnrichmentEGFR, KRAS1.57
289Lymphatic malformation 1EnrichmentFLT41.57
290Cafe-au-lait spots, multipleEnrichmentNF11.57
291Blue rubber bleb nevusEnrichmentTEK1.57
292Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.57
293Fibromatosis, gingival, 1EnrichmentSOS11.57
294Costello syndromeEnrichmentHRAS1.57
295Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.57
296Intracranial hypertension, idiopathicEnrichmentFLT41.57
297Cervical cancerEnrichmentFGFR31.57
298Immunodeficiency 33EnrichmentIKBKG1.57
299Pulmonic stenosisEnrichmentSOS11.57
300Piebald traitEnrichmentKIT1.57
301Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.57
302Aural atresia, congenitalEnrichmentFGFR21.57
303Intellectual developmental disorder, autosomal recessive 5EnrichmentSYNGAP11.57
304Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.57
305Roifman-chitayat syndromeEnrichmentPIK3CD1.57
306Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.57
307Angioma, tuftedEnrichmentKDR1.57
308Night blindness, congenital stationary, type 1hEnrichmentGNB31.57
309Noonan syndrome 8EnrichmentPIK3CA1.57
310Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.57
311Long qt syndrome 14EnrichmentCALM11.57
312Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.57
313Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.57
314Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.57
315Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.57
316Werner syndromeEnrichmentPTPN111.57
317Noonan syndrome 12EnrichmentRRAS21.57
318Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.57
319Chromosome 17q11.2 duplication syndrome, 1.4-mbEnrichmentNF11.57
320Infantile myofibromatosisEnrichmentPDGFRB1.57
321Childhood hepatocellular carcinomaEnrichmentMET1.57
322Noonan syndrome-like disorder with loose anagen hairEnrichmentSHOC21.57
323Rela fusion-positive ependymomaEnrichmentRELA1.57
324Bilateral generalized polymicrogyriaEnrichmentGRIN11.57
325Intellectual developmental disorder, autosomal dominant 21EnrichmentGRIN2A1.57
326Senior-loken syndrome 7EnrichmentAKT31.57
327Split hand-foot malformationEnrichmentFGFR21.57
328Papillary renal cell carcinomaEnrichmentMET1.57
329Fibrolamellar carcinomaEnrichmentPRKACA1.57
330Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG1.57
331Bardet-biedl syndrome 9EnrichmentNF11.57
332Cervix carcinomaEnrichmentFGFR31.57
333Bardet-biedl syndrome 16EnrichmentAKT31.57
334Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.57
335Hereditary lymphedema iEnrichmentFLT41.57
336Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG1.57
337Immunodeficiency 52EnrichmentLAT1.57
338Acute myeloid leukemia without maturationEnrichmentFLT31.57
339Interfrontal craniofaciosynostosisEnrichmentFGFR11.57
340Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasiaEnrichmentEXOC21.57
341Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.57
342Rolandic epilepsy-speech dyspraxia syndromeEnrichmentGRIN2A1.57
343Chronic eosinophilic leukemiaEnrichmentPDGFRA1.57
344B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.57
345Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT31.57
346B-lymphoblastic leukemia/lymphoma with tEnrichmentKIT1.57
347Common variable immunodeficiency 12EnrichmentNFKB11.57
348Pleomorphic rhabdomyosarcomaEnrichmentNF11.57
349Tafro syndromeEnrichmentMAP2K21.57
350Infantile osteopetrosis with neuroaxonal dysplasiaEnrichmentPLA2G61.57
351Epilepsy-aphasia spectrumEnrichmentGRIN2A1.57
352Cerebral visual impairmentEnrichmentGNB11.57
353Wooly hair nevusEnrichmentHRAS1.57
354Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, GRIN1, GRIN2B1.53
355Endometrial cancerEnrichmentFGFR2, PIK3CA1.49
356Hepatocellular carcinomaEnrichmentMET, PIK3CA1.46
357Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, FLT31.42
358AchondroplasiaEnrichmentFGFR31.40
359Jacobsen syndromeEnrichmentETS11.40
360Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.40
361Larsen syndromeEnrichmentFGFR31.40
362Thyroid carcinoma, familial medullaryEnrichmentNTRK11.40
363Pompe disease, infantile-onsetEnrichmentPIK3CA1.40
364Watson syndromeEnrichmentNF11.40
365Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.40
366Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.40
367Nuchal bleb, familialEnrichmentSOS11.40
368Late-onset retinal degenerationEnrichmentPLA2G51.40
369Intellectual developmental disorder, autosomal dominant 5EnrichmentSYNGAP11.40
370Nephrotic syndrome, type 3EnrichmentPLCE11.40
371Neurofibromatosis, familial spinalEnrichmentNF11.40
372Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.40
373Chromosome 17q11.2 deletion syndrome, 1.4-mbEnrichmentNF11.40
374Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.40
375Wieacker-wolff syndromeEnrichmentRASA11.40
376Polycystic kidney disease 4EnrichmentSHOC21.40
377HamartomaEnrichmentFGFR31.40
378T-cell acute lymphoblastic leukemiaEnrichmentABL11.40
379Brain cancerEnrichmentNF11.40
380Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.40
381Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.40
382Tricuspid valve insufficiencyEnrichmentPTPN111.40
383Mixed phenotype acute leukemia with tEnrichmentFLT31.40
384Renal cell carcinomaEnrichmentMET1.40
385Testicular cancerEnrichmentFGFR31.40
386KeratoacanthomaEnrichmentPIK3CA1.40
387ScoliosisEnrichmentGRIN2B, PTPN111.39
388Tetralogy of fallotEnrichmentFLT4, KDR1.32
389StrabismusEnrichmentGNB1, PTPN111.29
390Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.28
391Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.28
392AstigmatismEnrichmentGRIN2B1.28
393Autoimmune lymphoproliferative syndromeEnrichmentFASLG1.28
394Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.28
395Glaucoma 3, primary infantile, bEnrichmentTEK1.28
396Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.28
397Lung sarcomatoid carcinomaEnrichmentKRAS1.28
398Chronic myelomonocytic leukemiaEnrichmentFLT31.28
399Hereditary ataxiaEnrichmentPRKCG1.28
400Ciliary dyskinesia, primary, 22EnrichmentRASSF11.28
401Cerebrovascular diseaseEnrichmentPIK3CA1.28
402Embryonal rhabdomyosarcomaEnrichmentNF11.28
403Epidermolytic nevusEnrichmentHRAS1.28
404Familial cerebral cavernous malformationsEnrichmentPIK3CA1.28
405Knobloch syndromeEnrichmentPAK21.28
406Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.28
407Systemic mastocytosis with associated hematologic neoplasmEnrichmentKIT1.28
408GliomaEnrichmentFGFR21.28
409Middle aortic syndromeEnrichmentNF11.28
410Gingival fibromatosisEnrichmentSOS11.28
411Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.28
412Familial sick sinus syndromeEnrichmentGNB21.28
413Long qt syndromeEnrichmentCALM1, CALM21.19
414Cataract 6, multiple typesEnrichmentEPHA21.18
415Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.18
416Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentSHOC21.18
417Rhabdomyosarcoma 2EnrichmentNF11.18
418Insulin-like growth factor iEnrichmentIGF1R1.18
419Knobloch syndrome 1EnrichmentPAK21.18
420Mosaic variegated aneuploidy syndrome 1EnrichmentBUB1B-PAK61.18
421Pre-eclampsiaEnrichmentFLT11.18
422LymphomaEnrichmentPTPN111.18
423HoloprosencephalyEnrichmentFGFR11.18
424AniridiaEnrichmentEPHA21.18
425Sleep disorderEnrichmentGRIN2B1.18
426Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.11
427Split-hand/foot malformation 1EnrichmentFGFR21.11
428Holoprosencephaly 1EnrichmentFGFR11.11
429Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.11
430Basal cell carcinoma 1EnrichmentRASA11.11
431Patent ductus arteriosusEnrichmentPTPN111.11
432Glaucoma 3, primary congenital, aEnrichmentTEK1.04
433Squamous cell carcinoma, head and neckEnrichmentEGFR1.04
434Renal cell carcinoma, papillary, 1EnrichmentMET1.04
435Neuropathy, hereditary sensory and autonomic, type vEnrichmentNTRK11.04
436Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.04
437MegacolonEnrichmentAKT31.04
438Common variable immunodeficiencyEnrichmentNFKB11.04
439Overgrowth syndromeEnrichmentPIK3R11.04
440Moyamoya angiopathyEnrichmentABL11.04
441EpilepsyEnrichmentGRIN2A, GRIN2B0.99
442Arthrogryposis, distal, type 1aEnrichmentMET0.99
443Basal ganglia calcification, idiopathic, 1EnrichmentPDGFRB0.99
444Polycystic kidney disease 4 with or without polycystic liver diseaseEnrichmentSHOC20.99
445Ewing sarcomaEnrichmentNF10.99
446Lennox-gastaut syndromeEnrichmentMAPK100.99
447Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.99
448Mosaic variegated aneuploidy syndromeEnrichmentBUB1B-PAK60.99
449HypothyroidismEnrichmentGNB10.99
450Childhood-onset schizophreniaEnrichmentTTBK10.99
451Early-onset posterior polar cataractEnrichmentEPHA20.99
452Benign epilepsy with centrotemporal spikesEnrichmentGRIN1, GRIN2A0.98
453Type 2 diabetes mellitusEnrichmentAKT2, INSR0.96
454Centralopathic epilepsyEnrichmentGRIN1, GRIN2A0.94
455Neurofibromatosis, type iEnrichmentNF10.94
456Nephrotic syndrome, type 1EnrichmentPLCE10.94
457Coronary heart disease 5EnrichmentIKBKG0.94
458Leukemia, acute lymphoblastic 3EnrichmentNF10.94
459Myoclonic-atonic epilepsyEnrichmentSYNGAP10.94
460Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.94
461Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT30.94
462Adult hepatocellular carcinomaEnrichmentPIK3CA0.94
463Hypogonadotropic hypogonadismEnrichmentFGFR10.94
464Ventricular septal defectEnrichmentTEK0.94
465Meier-gorlin syndrome 1EnrichmentFGFR20.90
466Ciliary dyskinesia, primary, 3EnrichmentNFKB10.90
467Neurodegeneration with brain iron accumulationEnrichmentPLA2G60.90
468PolymicrogyriaEnrichmentAKT30.90
469Familial colorectal cancerEnrichmentPLA2G2A0.90
470Primary bone dysplasiaEnrichmentFGFR30.90
471Frontotemporal dementia 1EnrichmentCSF1R0.86
472Myelodysplastic syndromeEnrichmentGNB10.86
473Combined immunodeficiencyEnrichmentZAP700.86
474OsteochondrodysplasiaEnrichmentFGFR30.86
475Combined t cell and b cell immunodeficiencyEnrichmentZAP700.86
476Combined t and b cell immunodeficiencyEnrichmentZAP700.86
477EpicanthusEnrichmentPTPN110.82
478Septooptic dysplasiaEnrichmentFGFR10.82
479Renal hypodysplasia/aplasia 3EnrichmentFGFR30.82
480Congenital long qt syndromeEnrichmentPTPN110.82
481HypertelorismEnrichmentFGFR2, PIK3CA0.81
482Aortic valve disease 1EnrichmentSOS10.79
483Alzheimer's diseaseEnrichmentCSF1R0.79
484Stereotypic movement disorderEnrichmentSYNGAP10.79
485Protein-deficiency anemiaEnrichmentNRAS0.79
486Hereditary breast ovarian cancer syndromeEnrichmentKRAS, NF10.77
487Congenital nervous system abnormalityEnrichmentFGFR3, GNB5, PLA2G60.76
488Nervous system diseaseEnrichmentFGFR3, GNB5, PLA2G60.76
489Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR10.76
490PheochromocytomaEnrichmentNF10.76
491Heart diseaseEnrichmentABL10.76
492CataractEnrichmentEPHA20.76
493Cleft lip/palateEnrichmentPDGFRA0.76
49446,xy partial gonadal dysgenesisEnrichmentSOS10.76
495Renal cell carcinoma, nonpapillaryEnrichmentMET0.73
496Primary ovarian insufficiencyEnrichmentKDR, NTRK10.72
497Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentPLA2G60.71
498Microform holoprosencephalyEnrichmentFGFR10.71
499Lobar holoprosencephalyEnrichmentFGFR10.71
500Alzheimer disease, familial, 1EnrichmentCSF1R0.69
501Hypertension, essentialEnrichmentGNB30.69
502Cleft palate, isolatedEnrichmentGNB10.69
503Dandy-walker syndromeEnrichmentPDGFRB0.69
504Sudden infant death syndromeEnrichmentCALM20.69
505Cataract 44EnrichmentEPHA20.69
506Heart, malformation ofEnrichmentMAPK10.66
507Patent foramen ovaleEnrichmentPTPN110.66
508Early infantile developmental and epileptic encephalopathyEnrichmentGRIN10.66
509Semilobar holoprosencephalyEnrichmentFGFR10.66
510Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR10.66
511Early-onset nuclear cataractEnrichmentEPHA20.66
512Focal segmental glomerulosclerosisEnrichmentPLCE10.62
513Cardiomyopathy, dilated, 1aEnrichmentRAPGEF50.60
514HepatoblastomaEnrichmentFGFR30.60
515Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentNF10.60
516Attention deficit-hyperactivity disorderEnrichmentGNB50.59
517Tooth agenesisEnrichmentFGFR10.59
518Skin diseaseEnrichmentNF10.59
519MalariaEnrichmentIKBKG0.57
520Congenital stationary night blindnessEnrichmentGNB30.57
521Kallmann syndromeEnrichmentFGFR10.57
522Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.56
523Pancreatic cancerEnrichmentKRAS0.54
524Developmental and epileptic encephalopathy 1EnrichmentGRIN10.54
525Prostate cancerEnrichmentPIK3CA0.49
526Connective tissue diseaseEnrichmentFGFR30.45
527Familial hypertrophic cardiomyopathyEnrichmentRAF10.44
528Genetic steroid-resistant nephrotic syndromeEnrichmentPLCE10.43
529Left ventricular noncompactionEnrichmentRAF10.42
530DystoniaEnrichmentGNB10.42
531Systemic lupus erythematosusEnrichmentETS10.39
532Nephrotic syndromeEnrichmentPLCE10.35
533Hypertrophic cardiomyopathyEnrichmentPTPN110.35
534ThrombocytopeniaEnrichmentPTPN110.32
535Spastic ataxiaEnrichmentPLA2G60.29
536Familial isolated dilated cardiomyopathyEnrichmentRAF10.29
537Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.27
538Undetermined early-onset epileptic encephalopathyEnrichmentNTRK20.27
539Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R0.26
540Autosomal recessive non-syndromic intellectual disabilityEnrichmentGRIN10.26
541Dilated cardiomyopathyEnrichmentRAF10.18
542Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMET0.15

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