MAPK Signaling: Mitogens

No Pathway Network information available for MAPK Signaling: Mitogens

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

Disorders associated with MAPK Signaling: Mitogens SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bladder cancerEnrichmentCDKN1A, EGFR, ERBB2, ERBB3, FGFR3, KRAS, PTEN, TP53, TSC116.00
2Ovarian cancerEnrichmentAKT1, CDKN1B, EGFR, ERBB2, KRAS, MET, NTRK1, PDGFRA, PTEN, TP53, TSC216.00
3Noonan syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K2, MRAS, RAF1, SOS210.10
4RasopathyEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, MRAS, RAF1, SOS210.05
5Pilomyxoid astrocytomaEnrichmentBRAF, FGFR1, KRAS, NTRK2, RAF19.85
6Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC29.06
7Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC29.06
8Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.99
9Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.99
10Lung non-small cell carcinomaEnrichmentBRAF, EGFR, ERBB2, KRAS, MAP2K18.60
11HemimegalencephalyEnrichmentAKT3, MTOR, PTEN, RHEB8.37
12Lung cancer susceptibility 3EnrichmentBRAF, EGFR, ERBB2, KRAS, RB17.97
13Noonan syndrome and noonan-related syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF17.80
14Inherited cancer-predisposing syndromeEnrichmentCDK4, CDKN1B, EGFR, MET, PDGFRA, PTEN, TP53, TSC1, TSC27.36
15Gastric cancerEnrichmentCDK4, ERBB2, FGFR2, KRAS, PTEN, TP536.92
16HamartomaEnrichmentFGFR3, TSC1, TSC26.79
17Colorectal cancerEnrichmentAKT1, ERBB2, FGFR2, FGFR3, MET, PIK3R1, TP536.31
18GliomaEnrichmentFGFR2, NTRK3, PTEN6.19
19Lung cancerEnrichmentBRAF, EGFR, ERBB2, KRAS, MET6.01
20GliosarcomaEnrichmentEGFR, FGFR1, FGFR3, TP535.83
21Primary hypereosinophilic syndromeEnrichmentFGFR1, PDGFRA, PDGFRB5.79
22Giant cell glioblastomaEnrichmentEGFR, FGFR1, FGFR3, TP535.71
23Breast adenocarcinomaEnrichmentAKT1, KRAS, TP535.49
24Lung squamous cell carcinomaEnrichmentEGFR, FGFR3, KRAS5.49
25Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL17RD, KRAS5.44
26Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TP535.25
27Adult hepatocellular carcinomaEnrichmentTP53, TSC1, TSC24.88
28Differentiated thyroid carcinomaEnrichmentBRAF, KRAS, NTRK1, NTRK34.67
29Cervical cancerEnrichmentFGFR3, TP534.52
30LymphangioleiomyomatosisEnrichmentTSC1, TSC24.52
31Pfeiffer syndromeEnrichmentFGFR1, FGFR24.52
32Jackson-weiss syndromeEnrichmentFGFR1, FGFR24.52
33Encephalocraniocutaneous lipomatosisEnrichmentFGFR1, KRAS4.52
34Cervix carcinomaEnrichmentFGFR3, TP534.52
35Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, RB14.41
36Nk-cell enteropathyEnrichmentERBB4, IGF1R, PIK3CB4.35
37Crouzon syndromeEnrichmentFGFR2, FGFR34.04
38Lacrimoauriculodentodigital syndrome 1EnrichmentFGFR2, FGFR34.04
39Tuberous sclerosis 1EnrichmentTSC1, TSC24.04
40Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.04
41Dedifferentiated liposarcomaEnrichmentCDK4, MDM24.04
42Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.04
43Well-differentiated liposarcomaEnrichmentCDK4, MDM24.04
44Langerhans cell histiocytosisEnrichmentBRAF, MAP2K14.01
45Hereditary breast carcinomaEnrichmentAKT1, KRAS, PTEN, TP534.00
46Diffuse large b-cell lymphomaEnrichmentFOXO1, PTEN, TP533.83
47Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3R23.75
48Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.75
49Saethre-chotzen syndromeEnrichmentFGFR2, FGFR33.75
50Lung sarcomatoid carcinomaEnrichmentKRAS, TP533.75
51Tuberous sclerosisEnrichmentTSC1, TSC23.75
52Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.71
53Hepatocellular carcinomaEnrichmentIGF2R, MET, TP533.63
54Myeloma, multipleEnrichmentFGFR3, KRAS, PIK3R2, TP533.59
55Hemifacial hyperplasiaEnrichmentFGFR2, FGFR33.53
56Rhabdomyosarcoma 2EnrichmentFOXO1, TP533.53
57Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.53
58Primary ovarian insufficiencyEnrichmentIGF2R, KDR, NTRK1, RICTOR3.51
59Li-fraumeni syndromeEnrichmentMDM2, TP533.35
60Cowden syndrome 1EnrichmentEGFR, PTEN3.35
61Hemangioma, capillary infantileEnrichmentFLT4, KDR3.35
6246,xy disorder of sex developmentEnrichmentFGFR3, INSR3.35
63Nevus, epidermalEnrichmentFGFR3, KRAS3.21
64Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B3.21
65Renal cell carcinoma, papillary, 1EnrichmentMET, MTOR3.21
66Gallbladder cancerEnrichmentKRAS, TP533.21
67Overgrowth syndromeEnrichmentMTOR, PIK3R13.21
68Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K13.17
69Noonan syndrome 3EnrichmentKRAS, RAF13.17
70Breast cancerEnrichmentAKT1, KRAS, PTEN, TP533.11
71Glioma susceptibility 1EnrichmentERBB2, TP533.08
72Melanocytic nevus syndrome, congenitalEnrichmentBRAF, RAF13.05
73Cowden syndromeEnrichmentAKT1, PTEN2.98
74Arteriovenous malformationEnrichmentMAP2K1, TEK2.94
75Ventricular septal defectEnrichmentBRAF, TEK2.94
76Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.88
77Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K1, TEK2.85
78MeningiomaEnrichmentAKT1, PTEN2.72
79Renal cell carcinoma, nonpapillaryEnrichmentMET, MTOR2.52
80HydrocephalusEnrichmentFGFR2, PDGFRB2.52
81RhabdomyosarcomaEnrichmentPTEN, TP532.46
82Hereditary breast ovarian cancer syndromeEnrichmentKRAS, PTEN, TP532.46
83Melanoma, cutaneous malignant 1EnrichmentBRAF, CDK42.38
84Dandy-walker syndromeEnrichmentBRAF, PDGFRB2.38
85CraniosynostosisEnrichmentFGFR2, FGFR32.27
86Erythroleukemia, familialEnrichmentERBB32.26
87HypochondroplasiaEnrichmentFGFR32.26
88Proteus syndromeEnrichmentAKT12.26
89Beare-stevenson cutis gyrata syndromeEnrichmentFGFR22.26
90Paget disease, extramammaryEnrichmentERBB22.26
91Osteoglophonic dysplasiaEnrichmentFGFR12.26
92Thanatophoric dysplasia, type iEnrichmentFGFR32.26
93Trigonocephaly 1EnrichmentFGFR12.26
94Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.26
95Donohue syndromeEnrichmentINSR2.26
96Oculoectodermal syndromeEnrichmentKRAS2.26
97Muenke syndromeEnrichmentFGFR32.26
98Vacterl association with hydrocephalusEnrichmentPTEN2.26
99Premature aging syndrome, penttinen typeEnrichmentPDGFRB2.26
100Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.26
101Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.26
102Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.26
103Hypereosinophilic syndrome, idiopathicEnrichmentPDGFRA2.26
104Melanoma, cutaneous malignant 3EnrichmentCDK42.26
105Scaphocephaly, maxillary retrusion, and impaired intellectual developmentEnrichmentFGFR22.26
106Apert syndromeEnrichmentFGFR22.26
107Parkinson disease 18, autosomal dominantEnrichmentEIF4G12.26
108Myofibromatosis, infantile, 1EnrichmentPDGFRB2.26
109Thanatophoric dysplasia, type iiEnrichmentFGFR32.26
110Lethal congenital contracture syndrome 2EnrichmentERBB32.26
111Gist-plus syndromeEnrichmentPDGFRA2.26
112Camptodactyly, tall stature, and hearing loss syndromeEnrichmentFGFR32.26
113Accelerated tumor formationEnrichmentMDM22.26
114Bent bone dysplasia syndrome 1EnrichmentFGFR22.26
115Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.26
116Developmental and epileptic encephalopathy 58EnrichmentNTRK22.26
117Venous malformations, multiple cutaneous and mucosalEnrichmentTEK2.26
118Lessel-kubisch syndromeEnrichmentMDM22.26
119Short syndromeEnrichmentPIK3R12.26
120Bone marrow failure syndrome 5EnrichmentTP532.26
121Osteofibrous dysplasiaEnrichmentMET2.26
122Papilloma of choroid plexusEnrichmentTP532.26
123Basal cell carcinoma 7EnrichmentTP532.26
124Autism 19EnrichmentEIF4E2.26
125Myeloid and lymphoid neoplasms associated with pdgfra rearrangementEnrichmentPDGFRA2.26
126Anaplastic thyroid carcinomaEnrichmentTP532.26
127Papillary tumor of the pineal regionEnrichmentPTEN2.26
128Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.26
129Deafness, autosomal recessive 97EnrichmentMET2.26
130Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.26
131Crouzon syndrome with acanthosis nigricansEnrichmentFGFR32.26
132Neuroendocrine tumorEnrichmentCDKN1B2.26
133Autism 9EnrichmentMET2.26
134Basal ganglia calcification, idiopathic, 4EnrichmentPDGFRB2.26
135Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.26
136Cowden syndrome 6EnrichmentAKT12.26
137Amyotrophic lateral sclerosis 19EnrichmentERBB42.26
138Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.26
139Myeloid and lymphoid neoplasms associated with pdgfrb rearrangementEnrichmentPDGFRB2.26
140Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.26
141Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.26
142Obesity, hyperphagia, and developmental delayEnrichmentNTRK22.26
143Glioma susceptibility 2EnrichmentPTEN2.26
144Achondroplasia, severe, with developmental delay and acanthosis nigricansEnrichmentFGFR32.26
145Ductal carcinoma in situEnrichmentTP532.26
146Kosaki overgrowth syndromeEnrichmentPDGFRB2.26
147Hartsfield syndromeEnrichmentFGFR12.26
148Congenital heart defects, multiple types, 7EnrichmentFLT42.26
149Glaucoma 3, primary congenital, eEnrichmentTEK2.26
150Ocular pterygium-digital keloid dysplasia syndromeEnrichmentPDGFRB2.26
151Thyroid gland undifferentiated carcinomaEnrichmentTP532.26
152Tufted angioma of skinEnrichmentKDR2.26
153Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.26
154Arthrogryposis, distal, type 11EnrichmentMET2.26
155Lacrimoauriculodentodigital syndrome 2EnrichmentFGFR32.26
156Bockenheimer syndromeEnrichmentTEK2.26
157Capillary hemangiomaEnrichmentAKT32.26
158Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.26
159Congenital pulmonary airway malformationEnrichmentKRAS2.26
160Choroid plexus cancerEnrichmentTP532.26
161Fgfr3-related chondrodysplasiaEnrichmentFGFR32.26
162Camptodactyly-tall stature-scoliosis-hearing loss syndromeEnrichmentFGFR32.26
163Pleomorphic xanthoastrocytomaEnrichmentTP532.26
164Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.26
165Hartsfield-bixler-demyer syndromeEnrichmentFGFR12.26
166Non-syndromic unicoronal craniosynostosisEnrichmentFGFR22.26
167Serous carcinoma of the corpus uteriEnrichmentERBB22.26
168Akt2-related familial partial lipodystrophyEnrichmentAKT22.26
169Pallister-killian syndromeEnrichmentARAF2.24
170Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR22.24
171Noonan syndrome 5EnrichmentRAF12.24
172Melorheostosis, isolatedEnrichmentMAP2K12.24
173Noonan syndrome 7EnrichmentBRAF2.24
174Leopard syndrome 3EnrichmentBRAF2.24
175Cardiomyopathy, dilated, 1nnEnrichmentRAF12.24
176Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND22.24
177Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.24
178Noonan syndrome 9EnrichmentSOS22.24
179Noonan syndrome 11EnrichmentMRAS2.24
180Immunodeficiency 64 with lymphoproliferationEnrichmentRASGRP12.24
181Noonan syndrome 13EnrichmentMAPK12.24
182Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.24
183LymphangiomaEnrichmentBRAF2.24
184Phace associationEnrichmentBRAF2.24
185MelorheostosisEnrichmentMAP2K12.24
186Leopard syndrome 2EnrichmentRAF12.24
187Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.24
188Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG22.24
189Hypogonadotropic hypogonadism 18 with or without anosmiaEnrichmentIL17RD2.24
190Familial cold autoinflammatory syndrome 3EnrichmentPLCG22.24
191Thrombocytopenia 6EnrichmentSRC2.24
192TrigonitisEnrichmentRAF12.24
193Trilateral retinoblastomaEnrichmentRB12.24
194Immunodeficiency 64EnrichmentRASGRP12.24
195Ebv-induced lymphoproliferative disease due to rasgrp1 deficiencyEnrichmentRASGRP12.24
196Syringocystadenoma papilliferumEnrichmentBRAF2.24
197Diamond-blackfan anemia 22EnrichmentRPL172.24
198GangliogliomaEnrichmentBRAF2.24
199Nongerminomatous germ cell tumorEnrichmentBRAF2.24
200Phace syndromeEnrichmentBRAF2.24
201Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR22.24
202Classic hairy cell leukemiaEnrichmentBRAF2.24
203Lung oat cell carcinomaEnrichmentRB12.24
204Endometrial cancerEnrichmentFGFR2, PTEN2.23
205HepatoblastomaEnrichmentFGFR3, TP532.23
206Kallmann syndromeEnrichmentFGFR1, IL17RD2.12
207Pancreatic cancerEnrichmentKRAS, TP532.08
208Tetralogy of fallotEnrichmentFLT4, KDR2.05
209Lymphatic malformation 1EnrichmentFLT41.96
210Burkitt lymphomaEnrichmentMYC1.96
211Blue rubber bleb nevusEnrichmentTEK1.96
212Myeloproliferative disorder, chronic, with eosinophiliaEnrichmentPDGFRB1.96
213Adrenocortical carcinoma, hereditaryEnrichmentTP531.96
214Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK11.96
215Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB31.96
216Intracranial hypertension, idiopathicEnrichmentFLT41.96
217Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.96
218Aural atresia, congenitalEnrichmentFGFR21.96
219Keratosis, seborrheicEnrichmentFGFR31.96
220Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.96
221Roifman-chitayat syndromeEnrichmentPIK3CD1.96
222Angioma, tuftedEnrichmentKDR1.96
223Lymphoma, hodgkin, classicEnrichmentTP531.96
224Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.96
225Pain sensitivity quantitative trait locus 1EnrichmentNTRK11.96
226Antley-bixler syndrome without genital anomalies or disordered steroidogenesisEnrichmentFGFR21.96
227Lymphatic malformation 11EnrichmentTIE11.96
228Cebalid syndromeEnrichmentMTOR1.96
229Infantile myofibromatosisEnrichmentPDGFRB1.96
230Childhood hepatocellular carcinomaEnrichmentMET1.96
231Senior-loken syndrome 7EnrichmentAKT31.96
232Split hand-foot malformationEnrichmentFGFR21.96
233Rosette-forming glioneuronal tumorEnrichmentFGFR11.96
234Papillary renal cell carcinomaEnrichmentMET1.96
235Congenital mesoblastic nephromaEnrichmentNTRK31.96
236Congenital fibrosarcomaEnrichmentTP531.96
237Li-fraumeni syndrome 1EnrichmentTP531.96
238SarcomaEnrichmentTP531.96
239Immune system diseaseEnrichmentPIK3CD1.96
240Hodgkin's lymphomaEnrichmentTP531.96
241FibrosarcomaEnrichmentNTRK31.96
242Bardet-biedl syndrome 16EnrichmentAKT31.96
243Smith-kingsmore syndromeEnrichmentMTOR1.96
244Hereditary lymphedema iEnrichmentFLT41.96
245Interfrontal craniofaciosynostosisEnrichmentFGFR11.96
246Autosomal dominant nonsyndromic deafnessEnrichmentFGFR21.96
247Chronic eosinophilic leukemiaEnrichmentPDGFRA1.96
248Vacterl with hydrocephalusEnrichmentPTEN1.96
249B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormalityEnrichmentPDGFRA1.96
250Juvenile polyposis of infancyEnrichmentPTEN1.96
251Pleomorphic rhabdomyosarcomaEnrichmentTP531.96
252Hirschsprung disease 1EnrichmentERBB2, ERBB31.95
253Prostate cancerEnrichmentPTEN, TP531.95
254Pulmonic stenosisEnrichmentBRAF1.94
255Developmental and epileptic encephalopathy 50EnrichmentCAD1.94
256Chromosome 13q14 deletion syndromeEnrichmentRB11.94
257Nanophthalmos 2EnrichmentMFRP1.94
258Microphthalmia, isolated 5EnrichmentMFRP1.94
259Familial retinoblastomaEnrichmentRB11.94
260Tafro syndromeEnrichmentMAP2K21.94
261Non-immune hydrops fetalisEnrichmentFLT4, KRAS1.90
262AchondroplasiaEnrichmentFGFR31.78
263Hypogonadotropic hypogonadism 2 with or without anosmiaEnrichmentFGFR11.78
264Larsen syndromeEnrichmentFGFR31.78
265Thyroid carcinoma, familial medullaryEnrichmentNTRK11.78
266Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.78
267Osteogenic sarcomaEnrichmentTP531.78
268Nasopharyngeal carcinomaEnrichmentTP531.78
269Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.78
270Tuberous sclerosis 2EnrichmentTSC21.78
271Chromosome 8p11 myeloproliferative syndromeEnrichmentFGFR11.78
272Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.78
273High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.78
274Atypical teratoid rhabdoid tumorEnrichmentTP531.78
275Testicular germ cell cancerEnrichmentFGFR31.78
276Anaplastic astrocytomaEnrichmentTP531.78
277Xanthinuria, type iiEnrichmentTSC21.78
278Squamous cell carcinomaEnrichmentTP531.78
279AdenocarcinomaEnrichmentTP531.78
280Laryngeal squamous cell carcinomaEnrichmentPTEN1.78
281Bone osteosarcomaEnrichmentTP531.78
282SpermatocytomaEnrichmentFGFR31.78
283Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.78
284Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.78
285Renal cell carcinomaEnrichmentMET1.78
286Testicular cancerEnrichmentFGFR31.78
287RetinoblastomaEnrichmentRB11.77
288Ataxia-telangiectasiaEnrichmentBRAF1.77
289Late-onset retinal degenerationEnrichmentMFRP1.77
290Woolly hair, autosomal recessive 3EnrichmentRB11.77
291Hypotrichosis 8EnrichmentRB11.77
292Tethered spinal cord syndromeEnrichmentBRAF1.77
293Macrocytic anemiaEnrichmentRPL171.77
294Neurodegeneration, childhood-onset, with brain atrophyEnrichmentUBTF1.77
295Leukemia, acute myeloidEnrichmentKRAS, TP531.69
296Congenital nervous system abnormalityEnrichmentFGFR3, PTEN, TSC21.68
297Nervous system diseaseEnrichmentFGFR3, PTEN, TSC21.68
298Schimmelpenning-feuerstein-mims syndromeEnrichmentKRAS1.66
299Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.66
300Small cell cancer of the lungEnrichmentTP531.66
301Thyroid cancer, nonmedullary, 1EnrichmentTP531.66
302Glaucoma 3, primary infantile, bEnrichmentTEK1.66
303Barrett esophagusEnrichmentERBB21.66
304Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.66
305Embryonal rhabdomyosarcomaEnrichmentTP531.66
306Pilocytic astrocytomaEnrichmentKRAS1.66
307Non-syndromic bicoronal craniosynostosisEnrichmentFGFR31.66
308Primary hyperparathyroidismEnrichmentCDKN1B1.66
309Type 2 diabetes mellitusEnrichmentAKT2, INSR1.65
310Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.64
311Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.64
312Lynch syndrome 4EnrichmentRB11.64
313Mantle cell lymphomaEnrichmentCCND11.64
314CraniopharyngiomaEnrichmentBRAF1.64
315Newborn respiratory distress syndromeEnrichmentBRAF1.64
316Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.64
317West syndromeEnrichmentNTRK2, TSC21.61
318Macrocephaly/autism syndromeEnrichmentPTEN1.56
319Insulin-like growth factor iEnrichmentIGF1R1.56
320Pre-eclampsiaEnrichmentFLT11.56
321LymphomaEnrichmentTP531.56
322HoloprosencephalyEnrichmentFGFR11.56
323HemangiomaEnrichmentPTEN1.56
324Von hippel-lindau syndromeEnrichmentCCND11.55
325Rare syndromic intellectual disabilityEnrichmentUBTF1.55
326Split-hand/foot malformation 1EnrichmentFGFR21.49
327Holoprosencephaly 1EnrichmentFGFR11.49
328Testicular germ cell tumorEnrichmentFGFR31.49
329KeratoconusEnrichmentTSC11.49
330Adrenocortical carcinomaEnrichmentTP531.49
331Wilms tumor 5EnrichmentBRAF1.47
332PancytopeniaEnrichmentRPL171.47
333Esophageal cancerEnrichmentTP531.42
334Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.42
335Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.42
336Glaucoma 3, primary congenital, aEnrichmentTEK1.42
337Gastrointestinal stromal tumorEnrichmentPDGFRA1.42
338Leukemia, chronic myeloidEnrichmentKRAS1.42
339Neuropathy, hereditary sensory and autonomic, type vEnrichmentNTRK11.42
340Polycystic kidney disease 1EnrichmentTSC21.42
341Essential thrombocythemiaEnrichmentTP531.42
342MegacolonEnrichmentAKT31.42
343Follicular thyroid carcinomaEnrichmentPTEN1.42
344B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.42
345MyelofibrosisEnrichmentSRC1.40
346Arthrogryposis, distal, type 1aEnrichmentMET1.36
347Basal ganglia calcification, idiopathic, 1EnrichmentPDGFRB1.36
348Lymphoma, non-hodgkin, familialEnrichmentTP531.36
349Hypogonadotropic hypogonadismEnrichmentFGFR11.31
350Primary hyperaldosteronismEnrichmentTP531.31
351Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.30
352Leukemia, chronic lymphocyticEnrichmentTP531.27
353Meier-gorlin syndrome 1EnrichmentFGFR21.27
354PolymicrogyriaEnrichmentAKT31.27
355MelanomaEnrichmentPTEN1.27
356Familial colorectal cancerEnrichmentTP531.27
357Primary bone dysplasiaEnrichmentFGFR31.27
358Meningioma, familialEnrichmentPTEN1.23
359Myelodysplastic syndromeEnrichmentTP531.23
360OsteochondrodysplasiaEnrichmentFGFR31.23
361Uterine corpus cancerEnrichmentPTEN1.23
362NanophthalmosEnrichmentMFRP1.21
363Specific learning disabilityEnrichmentMAPK11.21
364Septooptic dysplasiaEnrichmentFGFR11.19
365Juvenile myelomonocytic leukemiaEnrichmentKRAS1.19
366Renal hypodysplasia/aplasia 3EnrichmentFGFR31.19
367EpicanthusEnrichmentRPL171.17
368Hypogonadotropic hypogonadism 7 with or without anosmiaEnrichmentFGFR11.13
369Cleft lip/palateEnrichmentPDGFRA1.13
370Dilated cardiomyopathyEnrichmentBRAF, RAF11.11
371OsteoporosisEnrichmentSRC1.11
372Lynch syndromeEnrichmentKRAS1.10
373Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.10
374Kidney diseaseEnrichmentTSC11.10
375Rare genetic intellectual disabilityEnrichmentMTOR1.10
376Wilms tumor 1EnrichmentBRAF1.08
377Microform holoprosencephalyEnrichmentFGFR11.07
378Lobar holoprosencephalyEnrichmentFGFR11.07
379Semilobar holoprosencephalyEnrichmentFGFR11.02
380Normosmic congenital hypogonadotropic hypogonadismEnrichmentFGFR11.02
381Heart, malformation ofEnrichmentMAPK11.01
382Tooth agenesisEnrichmentFGFR10.94
383Attention deficit-hyperactivity disorderEnrichmentRPL170.92
384Diamond-blackfan anemia 1EnrichmentTP530.92
385Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.92
386Autism spectrum disorderEnrichmentPTEN, TSC20.91
387Parkinson disease, late-onsetEnrichmentEIF4G10.90
388Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.89
389Hydrops fetalis, nonimmuneEnrichmentFLT40.87
390Developmental and epileptic encephalopathy 1EnrichmentCAD0.87
391MicrocephalyEnrichmentIGF1R, MAPK10.80
392Connective tissue diseaseEnrichmentFGFR30.79
393Familial hypertrophic cardiomyopathyEnrichmentRAF10.76
394Diamond-blackfan anemiaEnrichmentTP530.74
395Left ventricular noncompactionEnrichmentRAF10.74
396Cerebral palsyEnrichmentPDGFRB0.71
397ThrombocytopeniaEnrichmentSRC0.62
398Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB40.62
399HypertelorismEnrichmentFGFR20.60
400Familial isolated dilated cardiomyopathyEnrichmentRAF10.58
401Undetermined early-onset epileptic encephalopathyEnrichmentNTRK20.57
402Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentERBB40.56
403AutismEnrichmentRPL170.47
404Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMET0.41
405Hereditary retinal dystrophyEnrichmentMFRP0.09
406Fundus dystrophyEnrichmentMFRP0.09

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