MAPK-Erk Pathway

Pathway network for the MAPK-Erk Pathway SuperPath

Sources:
  • Sino Biological

Pathways in the MAPK-Erk Pathway SuperPath

#NameSourceGenes
1MAPK-Erk PathwaySino Biological
2Actin Dynamics Signaling PathwaySino Biological
3G Protein-coupled Receptors Signaling PathwaySino Biological

Gene overlap in member pathways for MAPK-Erk Pathway SuperPath

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

Disorders associated with MAPK-Erk Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SPRED110.77
2Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS, PIK3CA9.58
3Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF18.97
4RasopathyEnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF18.57
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K28.16
6Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K28.16
7Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA6.63
8Capillary malformation-arteriovenous malformation 1EnrichmentEPHB4, KRAS, MAP2K1, PIK3CA6.63
9Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF16.33
10Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS6.12
11Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA11, PIK3CA, PIK3R16.12
12Arteriovenous malformationEnrichmentEPHB4, HRAS, MAP2K1, PIK3CA6.08
13Myopathy, x-linked, with excessive autophagyEnrichmentEPHB4, HRAS, MAP2K1, PIK3CA5.86
14Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.52
15Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA, STK114.95
16Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGA2, ITGA2B, ITGB34.82
17Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS4.58
18Noonan syndrome 3EnrichmentHRAS, KRAS, RAF14.58
19Gallbladder cancerEnrichmentBRAF, KRAS, PIK3CA4.58
20Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF14.58
21Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS4.58
22Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS, PPARG4.55
23Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM34.16
24Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.07
25Colorectal cancerEnrichmentBRAF, BUB1, NRAS, PIK3CA, PIK3R1, PPARG, SRC3.95
26MelanomaEnrichmentBRAF, MITF, STK113.65
27Bleeding disorder, platelet-type, 16EnrichmentITGA2B, ITGB33.60
28Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.60
29Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB3, STAT33.33
30MyxofibrosarcomaEnrichmentCREB3L1, CREB3L23.33
31Melanoma of soft tissueEnrichmentATF1, CREB13.33
32Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.30
33Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.30
34Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF13.30
35Arteriovenous malformations of the brainEnrichmentBRAF, KRAS, SYN33.18
36Lung cancerEnrichmentBRAF, KRAS, MAP3K8, PIK3CA3.18
37Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC42, YWHAZ3.15
38Capillary malformations, congenitalEnrichmentGNA11, PIK3CA3.08
39Congenital generalized lipodystrophyEnrichmentFOS, PPARG3.03
40Melanoma, cutaneous malignant 1EnrichmentBRAF, MITF, STK112.93
41Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB42.91
42Breast adenocarcinomaEnrichmentKRAS, PIK3CA2.91
43Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA2.91
44AniridiaEnrichmentEPHA2, PAX62.81
45Glanzmann thrombasthenia 1EnrichmentITGA2B, ITGB32.77
46Leukemia, chronic myeloidEnrichmentKRAS, NRAS2.77
47Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA2.76
48Bladder cancerEnrichmentHRAS, KRAS, PIK3CA2.63
49Non-immune hydrops fetalisEnrichmentEPHB4, HRAS, KRAS2.55
50Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.54
51Junctional epidermolysis bullosaEnrichmentITGA6, ITGB42.54
52Autosomal dominant macrothrombocytopeniaEnrichmentITGA2B, ITGB32.44
53Long qt syndrome 1EnrichmentCALM1, CALM2, CALM32.37
54Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS2.28
55Myeloma, multipleEnrichmentBRAF, H3C1, KRAS, PIK3R22.27
56Lung cancer susceptibility 3EnrichmentBRAF, KRAS2.15
57Specific learning disabilityEnrichmentMAPK1, YWHAG2.09
58Lynch syndromeEnrichmentKRAS, PIK3CA2.09
59Lymphatic malformation 5EnrichmentEPHB42.04
60MacrodactylyEnrichmentPIK3CA2.04
61Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA112.04
62Oculoectodermal syndromeEnrichmentKRAS2.04
63Systemic lupus erythematosus 6EnrichmentITGAM2.04
64Noonan syndrome 5EnrichmentRAF12.04
65Melorheostosis, isolatedEnrichmentMAP2K12.04
66Megalencephaly, autosomal dominantEnrichmentPIK3CA2.04
67Noonan syndrome 7EnrichmentBRAF2.04
68Leopard syndrome 3EnrichmentBRAF2.04
69Cardiomyopathy, dilated, 1nnEnrichmentRAF12.04
70Cowden syndrome 5EnrichmentPIK3CA2.04
71Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.04
72Melanosis, neurocutaneousEnrichmentNRAS2.04
73Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM22.04
74Noonan syndrome 6EnrichmentNRAS2.04
75Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.04
76Cerebral cavernous malformations 4EnrichmentPIK3CA2.04
77Noonan syndrome 13EnrichmentMAPK12.04
78Intellectual developmental disorder, x-linked 50EnrichmentSYN12.04
79Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.04
80Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B2.04
81Short syndromeEnrichmentPIK3R12.04
82Fetomaternal alloimmune thrombocytopenia 2EnrichmentITGA2B2.04
83Epilepsy, x-linked 1, with variable learning disabilities and behavior disordersEnrichmentSYN12.04
84Cardioacrofacial dysplasia 2EnrichmentPRKACB2.04
85Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI12.04
86Prolonged electroretinal response suppression 1EnrichmentRGS92.04
87Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.04
88Prostate cancer/brain cancer susceptibilityEnrichmentEPHB22.04
89LymphangiomaEnrichmentBRAF2.04
90Hemifacial myohyperplasiaEnrichmentPIK3CA2.04
91Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.04
92Phace associationEnrichmentBRAF2.04
93Spinocerebellar ataxia 14EnrichmentPRKCG2.04
94X-linked epilepsy with variable learning disabilities and behavior disordersEnrichmentSYN12.04
95MelorheostosisEnrichmentMAP2K12.04
96Leopard syndrome 2EnrichmentRAF12.04
97Lethal congenital contracture syndrome 5EnrichmentDNM22.04
98Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorderEnrichmentPLA2G4A2.04
99Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.04
100Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.04
101Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B2.04
102Hypocalcemia, autosomal dominant 2EnrichmentGNA112.04
103Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP62.04
104Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.04
105Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.04
106Cardioacrofacial dysplasia 1EnrichmentPRKACA2.04
107Visual impairment and progressive phthisis bulbiEnrichmentMARK32.04
108Bleeding disorder, platelet-type, 22EnrichmentEPHB22.04
109Thrombocytopenia 6EnrichmentSRC2.04
110Gastrointestinal ulceration, recurrent, with dysfunctional plateletsEnrichmentPLA2G4A2.04
111Intellectual developmental disorder, autosomal recessive 59EnrichmentIMPA12.04
112Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.04
113TrigonitisEnrichmentRAF12.04
114Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.04
115Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G2.04
116Amelogenesis imperfecta, type ihEnrichmentITGB62.04
117Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM22.04
118HypospadiasEnrichmentPIK3CA2.04
119Congenital pulmonary airway malformationEnrichmentKRAS2.04
120Rare venous malformationEnrichmentPIK3CA2.04
121Fetomaternal alloimmune thrombocytopenia 3EnrichmentITGA22.04
122Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.04
123Diaphragmatic eventrationEnrichmentPIK3CA2.04
124Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.04
125Syringocystadenoma papilliferumEnrichmentBRAF2.04
126Rare combined vascular malformationEnrichmentPIK3CA2.04
127GangliogliomaEnrichmentBRAF2.04
128Cavernous lymphangiomaEnrichmentPIK3CA2.04
129Cryptogenic multifocal ulcerous stenosing enteritisEnrichmentPLA2G4A2.04
130Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.04
131Nongerminomatous germ cell tumorEnrichmentBRAF2.04
132Phace syndromeEnrichmentBRAF2.04
133Phakomatosis pigmentokeratoticaEnrichmentHRAS2.04
134Classic hairy cell leukemiaEnrichmentBRAF2.04
135Phakomatosis cesiomarmorataEnrichmentGNA112.04
136Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.04
137Eccrine angiomatous hamartomaEnrichmentPIK3CA2.04
138Macrodactyly of toeEnrichmentPIK3CA2.04
139Ephb4-related lymphatic-related hydrops fetalisEnrichmentEPHB42.04
140Neurocutaneous melanocytosisEnrichmentNRAS2.04
141Vein of galen aneurysmal malformationEnrichmentEPHB42.04
142ThrombocytopeniaEnrichmentITGA2B, ITGB3, SRC2.01
143Blood group system, landsteiner-wienerEnrichmentICAM41.96
144Cutis laxa, autosomal recessive, type iaEnrichmentFBLN51.96
145Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.96
146Macular degeneration, age-related, 3EnrichmentFBLN51.96
147Omodysplasia 2EnrichmentFZD21.96
148Amyloidosis, finnish typeEnrichmentGSN1.96
149Amyotrophic lateral sclerosis 18EnrichmentPFN11.96
150Neurodevelopmental disorder with absent language and variable seizuresEnrichmentWASF11.96
151Brunet-wagner neurodevelopmental syndromeEnrichmentRBL21.96
152Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.96
153Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.96
154Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.96
155Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.96
156Immunodeficiency 71 with inflammatory disease and congenital thrombocytopeniaEnrichmentARPC1B1.96
157Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.96
158Nemaline myopathy 7EnrichmentCFL21.96
159Cutis laxa, autosomal dominant 2EnrichmentFBLN51.96
160Long qt syndrome 16EnrichmentCALM31.96
161Microphthalmia/coloboma 11EnrichmentFZD51.96
162Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.96
163Immunodeficiency 22EnrichmentLCK1.96
164Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.96
165Takenouchi-kosaki syndromeEnrichmentCDC421.96
166Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN1.96
167Charcot-marie-tooth disease, demyelinating, type 1hEnrichmentFBLN51.96
168Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.96
169Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.96
170Long qt syndrome 15EnrichmentCALM21.96
171Cerebral cavernous malformations 5EnrichmentMAP3K31.96
172Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.96
173Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.96
174Nocarh syndromeEnrichmentCDC421.96
175Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.96
176Verrucous hemangiomaEnrichmentMAP3K31.96
177Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.96
178Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.96
179Hereditary sensorimotor neuropathy with hyperelastic skinEnrichmentFBLN51.96
180Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR21.90
181Legius syndromeEnrichmentSPRED11.90
182Heterochromia iridisEnrichmentMITF1.90
183Tietz albinism-deafness syndromeEnrichmentMITF1.90
184Cardiac valvular dysplasia 1EnrichmentPLD11.90
185Osteogenesis imperfecta, type xviEnrichmentCREB3L11.90
186Spondyloepimetaphyseal dysplasia, faden-alkuraya typeEnrichmentRSPRY11.90
187Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG21.90
188T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.90
189Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG21.90
190Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafnessEnrichmentMITF1.90
191Ovarian dysgenesis 8EnrichmentESR21.90
192Neuroendocrine tumorEnrichmentCDKN1B1.90
193Immunodeficiency 31aEnrichmentSTAT11.90
194Immunodeficiency 31bEnrichmentSTAT11.90
195Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG31.90
196Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.90
197Microcephaly 30, primary, autosomal recessiveEnrichmentBUB11.90
198Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG1.90
199Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.90
200Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR21.90
201Intestinal polyposis syndromeEnrichmentSTK111.90
202Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.90
203Systemic lupus erythematosusEnrichmentBLK, ETS1, ITGAM1.89
204Breast cancerEnrichmentESR1, KRAS, PIK3CA, SHC11.83
205Gastric cancerEnrichmentKRAS, PIK3CA, STK111.77
206GliosarcomaEnrichmentNFKBIA, PPARG1.77
207Hereditary breast carcinomaEnrichmentESR1, KRAS, PIK3CA1.75
208Lymphatic malformation 1EnrichmentEPHB41.74
209Leukocyte adhesion deficiency, type iEnrichmentITGB21.74
210Sorsby fundus dystrophyEnrichmentSYN31.74
211Scoliosis, isolated 1EnrichmentMAPK71.74
212Costello syndromeEnrichmentHRAS1.74
213Cutis marmorata telangiectatica congenitaEnrichmentGNA111.74
214Intracranial hypertension, idiopathicEnrichmentEPHB41.74
215Pulmonic stenosisEnrichmentBRAF1.74
216Keratosis, seborrheicEnrichmentPIK3CA1.74
217Segawa syndrome, autosomal recessiveEnrichmentTH1.74
218Leukocyte adhesion deficiency, type iiiEnrichmentITGB21.74
219Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.74
220Noonan syndrome 8EnrichmentPIK3CA1.74
221Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.74
222Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndromeEnrichmentITGA31.74
223Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.74
224Autosomal dominant hypocalcemiaEnrichmentGNA111.74
225Fibrolamellar carcinomaEnrichmentPRKACA1.74
226BradyopsiaEnrichmentRGS91.74
227Hereditary lymphedema iEnrichmentEPHB41.74
228Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.74
229Tafro syndromeEnrichmentMAP2K21.74
230Phakomatosis cesioflammeaEnrichmentGNA111.74
231Wooly hair nevusEnrichmentHRAS1.74
232Giant cell glioblastomaEnrichmentNFKBIA, PPARG1.72
233Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.66
234Maturity-onset diabetes of the young, type 11EnrichmentBLK1.66
235Robinow syndrome, autosomal dominant 3EnrichmentFZD21.66
236Otosclerosis 4EnrichmentPKD1L21.66
237Long qt syndrome 14EnrichmentCALM11.66
238Genitourinary and/or brain malformation syndromeEnrichmentPPP1R12A1.66
239Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.66
240Developmental delay, language impairment, and ocular abnormalitiesEnrichmentARPC41.66
241Epidermodysplasia verruciformis 3EnrichmentCIB11.66
242Immunodeficiency 113 with autoimmunity and autoinflammationEnrichmentARPC51.66
243Immune system diseaseEnrichmentCDC421.66
244Immunodeficiency 133EnrichmentARPC51.66
245Diffuse large b-cell lymphomaEnrichmentBRAF, STAT31.63
246Hydrops fetalis, nonimmuneEnrichmentEPHB4, HRAS1.63
247Keratitis, hereditaryEnrichmentPAX61.60
248Peutz-jeghers syndromeEnrichmentSTK111.60
249Foveal hypoplasia 1EnrichmentPAX61.60
250Carotid intimal medial thickness 1EnrichmentPPARG1.60
251Histiocytoma, angiomatoid fibrousEnrichmentCREB11.60
252Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.60
253Optic nerve hypoplasia, bilateralEnrichmentPAX61.60
254Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.60
255Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.60
256Immunodeficiency 31cEnrichmentSTAT11.60
257Melanoma, cutaneous malignant 8EnrichmentMITF1.60
258Papillary renal cell carcinomaEnrichmentMITF1.60
259Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.60
260Familial partial lipodystrophyEnrichmentPPARG1.60
261Common variable immunodeficiency 12EnrichmentNFKB11.60
262Dystonia, dopa-responsiveEnrichmentTH1.56
263Ataxia-telangiectasiaEnrichmentBRAF1.56
264Pompe disease, infantile-onsetEnrichmentPIK3CA1.56
265Myopathy, centronuclear, x-linkedEnrichmentDNM21.56
266Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyEnrichmentITGA71.56
267Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.56
268Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.56
269Tethered spinal cord syndromeEnrichmentBRAF1.56
270Lymphatic malformation 7EnrichmentEPHB41.56
271Immunodeficiency 14EnrichmentPIK3R11.56
272Capillary malformation-arteriovenous malformation 2EnrichmentEPHB41.56
273SpermatocytomaEnrichmentHRAS1.56
274Bleeding disorder, platelet-type, 24EnrichmentITGB31.56
275Anastomosing haemangiomaEnrichmentGNA111.56
276Alopecia - intellectual disability syndromeEnrichmentITGB61.56
277KeratoacanthomaEnrichmentPIK3CA1.56
278Prostate cancerEnrichmentEPHB2, PIK3CA1.54
279Myocardial infarctionEnrichmentESR1, ITGB31.51
280Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.49
281Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.49
282Autosomal recessive cutis laxa type iEnrichmentFBLN51.49
283Autosomal dominant cutis laxaEnrichmentFBLN51.49
284Megalencephalic leukoencephalopathy with subcortical cystsEnrichmentMLC11.49
285Amelogenesis imperfecta, type iiiaEnrichmentITGB61.44
286Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.44
287Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.44
288Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.44
289Auriculocondylar syndrome 1EnrichmentGNAI31.44
290Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.44
291Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.44
292Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.44
293Retinitis pigmentosa 26EnrichmentITGA41.44
294Achromatopsia 4EnrichmentGNAI31.44
295Lung sarcomatoid carcinomaEnrichmentKRAS1.44
296Hereditary ataxiaEnrichmentPRKCG1.44
297Cerebrovascular diseaseEnrichmentPIK3CA1.44
298CraniopharyngiomaEnrichmentBRAF1.44
299Pilocytic astrocytomaEnrichmentKRAS1.44
300Newborn respiratory distress syndromeEnrichmentBRAF1.44
301Epidermolytic nevusEnrichmentHRAS1.44
302Familial cerebral cavernous malformationsEnrichmentPIK3CA1.44
303Jacobsen syndromeEnrichmentETS11.43
304Thyroid carcinoma, familial medullaryEnrichmentESR21.43
305Waardenburg syndrome, type 2aEnrichmentMITF1.43
306Gillespie syndromeEnrichmentPAX61.43
307Nasopharyngeal carcinomaEnrichmentNFKBIA1.43
308Estrogen resistanceEnrichmentESR11.43
309Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.43
310Hyper ige syndromeEnrichmentSTAT31.43
311Testicular germ cell cancerEnrichmentSTK111.43
312Migraine without auraEnrichmentESR11.43
313Testicular cancerEnrichmentSTK111.43
314Apc-associated polyposis conditionsEnrichmentSTK111.43
315Pancreatic cancerEnrichmentKRAS, STK111.41
316Severe covid-19EnrichmentCIB1, ITGAV1.40
317DystoniaEnrichmentCAMK2B, TH1.39
318Robinow syndrome, autosomal dominant 1EnrichmentFZD21.36
319Retinopathy of prematurityEnrichmentFZD41.36
320Autosomal dominant robinow syndromeEnrichmentFZD21.36
321Eyelid colobomaEnrichmentFZD51.36
322Inherited epidermodysplasia verruciformisEnrichmentCIB11.36
323Lens colobomaEnrichmentFZD51.36
324Cataract 6, multiple typesEnrichmentEPHA21.34
325Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.34
326Glanzmann thrombasthenia 2EnrichmentITGB31.34
327Epidermolysis bullosaEnrichmentITGA61.34
328Aplasia cutis congenitaEnrichmentITGB41.34
329HemimegalencephalyEnrichmentPIK3CA1.34
330Long qt syndromeEnrichmentCALM1, CALM21.34
331Aniridia 1EnrichmentPAX61.31
332Lipodystrophy, familial partial, type 3EnrichmentPPARG1.31
333Leptin deficiency or dysfunctionEnrichmentPPARG1.31
334Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.31
335Primary hyperparathyroidismEnrichmentCDKN1B1.31
336Clear cell papillary renal cell carcinomaEnrichmentMITF1.31
337Leukemia, acute myeloidEnrichmentKRAS, NRAS1.28
338Exudative vitreoretinopathy 1EnrichmentFZD41.27
339Robinow syndrome, autosomal recessive 1EnrichmentFZD21.27
340Norrie diseaseEnrichmentFZD41.27
341Megalencephalic leukoencephalopathy with subcortical cysts 1EnrichmentMLC11.27
342Robinow syndrome, autosomal dominant 2EnrichmentFZD21.27
343Persistent hyperplastic primary vitreousEnrichmentFZD41.27
344Coloboma of choroid and retinaEnrichmentFZD51.27
345Endometrial stromal sarcomaEnrichmentYWHAE1.27
346Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.27
347Melanoma, uvealEnrichmentGNA111.27
348Myopathy, centronuclear, 1EnrichmentDNM21.27
349Cowden syndrome 1EnrichmentPIK3CA1.27
350Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB41.27
351Wilms tumor 5EnrichmentBRAF1.27
352Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB41.27
353Familial adenomatous polyposis 1EnrichmentSTK111.21
354Histiocytoid hemangiomaEnrichmentFOS1.21
355Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK111.21
356MyelofibrosisEnrichmentSRC1.20
357Epidermolysis bullosa simplexEnrichmentITGB41.20
358Overgrowth syndromeEnrichmentPIK3R11.20
359Coloboma of optic nerveEnrichmentFZD51.19
360Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.19
361Autosomal recessive robinow syndromeEnrichmentFZD21.19
362Kidney clear cell sarcomaEnrichmentYWHAE1.19
363Typical nemaline myopathyEnrichmentCFL21.19
364Familial hypertrophic cardiomyopathyEnrichmentPRKAG2, RAF11.19
365Renal hypodysplasia/aplasia 1EnrichmentITGA81.15
366Lymphoma, non-hodgkin, familialEnrichmentBRAF1.15
367Early-onset posterior polar cataractEnrichmentEPHA21.15
368Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentPAX61.13
369Testicular germ cell tumorEnrichmentSTK111.13
370Waardenburg syndrome, type 4aEnrichmentMITF1.13
371Anterior segment dysgenesis 5EnrichmentPAX61.13
372Chronic mucocutaneous candidiasisEnrichmentSTAT11.13
373Waardenburg syndromeEnrichmentMITF1.13
374Coats diseaseEnrichmentFZD41.13
375Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B1.11
376Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.10
377Adult hepatocellular carcinomaEnrichmentPIK3CA1.10
378Primary hyperaldosteronismEnrichmentBRAF1.10
379Ventricular septal defectEnrichmentBRAF1.10
380Cowden syndromeEnrichmentPIK3CA1.10
381Renal agenesis, bilateralEnrichmentITGA81.10
382Exudative vitreoretinopathyEnrichmentFZD41.07
383Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM11.07
384Multiple endocrine neoplasia, type iEnrichmentCDKN1B1.07
385Waardenburg syndrome, type 1EnrichmentMITF1.07
386Waardenburg syndrome, type 2eEnrichmentMITF1.07
387Common variable immunodeficiencyEnrichmentNFKB11.07
388Amelogenesis imperfecta, type ieEnrichmentITGB61.05
389Stroke, ischemicEnrichmentPRKCH1.05
390Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.05
391Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.02
392Glioma susceptibility 1EnrichmentH3C11.02
393Ewing sarcomaEnrichmentETV11.02
394Mosaic variegated aneuploidy syndromeEnrichmentBUB11.02
395Permanent neonatal diabetes mellitusEnrichmentSTAT31.02
396Type 2 diabetes mellitusEnrichmentIGF2BP2, PPARG1.01
397Cat eye syndromeEnrichmentFZD50.98
398MeningiomaEnrichmentPIK3CA0.98
399Neurofibromatosis, type iEnrichmentSPRED10.97
400Neural tube defectsEnrichmentITGB10.95
401Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.95
402Protein-deficiency anemiaEnrichmentNRAS0.95
403Nk-cell enteropathyEnrichmentPIK3CB0.95
404Combined immunodeficiencyEnrichmentARPC1B0.94
405Combined t cell and b cell immunodeficiencyEnrichmentARPC1B0.94
406Combined t and b cell immunodeficiencyEnrichmentARPC1B0.94
407Peters-plus syndromeEnrichmentPAX60.92
408Ciliary dyskinesia, primary, 3EnrichmentNFKB10.92
409Multiple sclerosisEnrichmentITGB40.92
410OsteoporosisEnrichmentSRC0.92
411CataractEnrichmentEPHA20.92
412Isolated macular dystrophyEnrichmentITGA40.92
413Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA, YWHAG0.90
414Wilms tumor 1EnrichmentBRAF0.89
415Congenital myopathy 4a, autosomal dominantEnrichmentITGA70.89
416Migraine with or without aura 1EnrichmentESR10.89
417Microphthalmia/coloboma 12EnrichmentFZD50.87
418Ovarian cancerEnrichmentCDKN1B, KRAS, PIK3CA0.87
419RhabdomyosarcomaEnrichmentHRAS0.86
420HypertelorismEnrichmentPAX6, PIK3CA0.86
421Hypertension, essentialEnrichmentRGS50.84
422Dandy-walker syndromeEnrichmentBRAF0.84
423Cataract 44EnrichmentEPHA20.84
424Polycystic liver diseaseEnrichmentCDC25A0.84
425Autosomal dominant polycystic liver diseaseEnrichmentCDC25A0.84
426Acute promyelocytic leukemiaEnrichmentSTAT30.82
427Hereditary breast ovarian cancer syndromeEnrichmentKRAS, MITF0.82
428Coloboma of maculaEnrichmentFZD50.82
429Heart, malformation ofEnrichmentMAPK10.81
430Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP60.81
431Early-onset nuclear cataractEnrichmentEPHA20.81
432Dilated cardiomyopathyEnrichmentBRAF, RAF10.77
433Sudden infant death syndromeEnrichmentCALM20.77
434Osteogenesis imperfecta, type iiiEnrichmentCREB3L10.76
435Anterior segment dysgenesisEnrichmentPAX60.76
436Male infertility with spermatogenesis disorderEnrichmentSPRED10.76
437Endometrial cancerEnrichmentPIK3CA0.75
438Centronuclear myopathyEnrichmentDNM20.75
439Wolff-parkinson-white syndromeEnrichmentPRKAG20.74
440Hepatocellular carcinomaEnrichmentPIK3CA0.73
441Skin diseaseEnrichmentITGB40.73
442Kallmann syndromeEnrichmentDUSP60.72
443Maturity-onset diabetes of the youngEnrichmentBLK0.70
444Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.70
445Tetralogy of fallotEnrichmentEPHB40.67
446Macs syndromeEnrichmentPAX60.65
447Inherited cancer-predisposing syndromeEnrichmentCDKN1B, MITF, STK110.63
448MicrophthalmiaEnrichmentPAX60.61
449Brittle bone disorderEnrichmentCREB3L10.60
450Precursor t-cell acute lymphoblastic leukemiaEnrichmentTAL10.60
451Ear malformationEnrichmentMITF0.58
452Left ventricular noncompactionEnrichmentRAF10.56
453Severe combined immunodeficiencyEnrichmentLCK0.51
454EpilepsyEnrichmentSYN10.51
455MyopathyEnrichmentDNM20.51
456MicrocephalyEnrichmentCAMK2B, MAPK10.50
457Charcot-marie-tooth diseaseEnrichmentDNM20.50
458Nephrotic syndromeEnrichmentITGA30.48
459Non-syndromic genetic deafnessEnrichmentMITF0.44
460Familial isolated dilated cardiomyopathyEnrichmentRAF10.41
461Complex neurodevelopmental disorderEnrichmentRAC3, WASF10.40
462Nonsyndromic hearing lossEnrichmentMITF0.38
463Autosomal recessive non-syndromic intellectual disabilityEnrichmentIMPA10.38
464Hypertrophic cardiomyopathyEnrichmentPRKAG20.38
465Cone-rod dystrophy 2EnrichmentITGA40.33
466Body mass index quantitative trait locus 11EnrichmentPPARG0.33
467Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPFN10.32
468Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMITF0.32
469AutismEnrichmentCAMK2G0.31
470Hereditary retinal dystrophyEnrichmentITGA4, RGS9, SYN30.30
471Fundus dystrophyEnrichmentITGA4, RGS9, SYN30.30
472Leber plus diseaseEnrichmentRGS90.23
473Congenital nervous system abnormalityEnrichmentCAMK2B0.20
474Nervous system diseaseEnrichmentCAMK2B0.20
475Rare genetic deafnessEnrichmentMITF0.20
476Autism spectrum disorderEnrichmentMAP2K10.20

Loading...
Loading...
Loading...