Translation Insulin regulation of translation

Pathway network for the Translation Insulin regulation of translation SuperPath

Sources:
  • GeneGo (Thomson Reuters)
  • WikiPathways

Pathways in the Translation Insulin regulation of translation SuperPath

#NameSourceGenes
1Translation Insulin regulation of translationGeneGo (Thomson Reuters)
2Translation Regulation of EIF4F activityGeneGo (Thomson Reuters)
3Translation Regulation of EIF2 activityGeneGo (Thomson Reuters)
4Regulation of lipid metabolism Insulin signaling-generic cascadesGeneGo (Thomson Reuters)
5Cell adhesion PLAU signalingGeneGo (Thomson Reuters)
6Translation inhibitors in chronically activated PDGFRA cellsWikiPathways
7Transcription Receptor-mediated HIF regulationGeneGo (Thomson Reuters)
8Development Growth hormone signaling via PI3K/AKT and MAPK cascadesGeneGo (Thomson Reuters)
9Development CNTF receptor signalingGeneGo (Thomson Reuters)
10Butyrate-induced histone acetylationWikiPathways

Gene overlap in member pathways for Translation Insulin regulation of translation SuperPath

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

Disorders associated with Translation Insulin regulation of translation SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentHRAS, MAP2K1, MAP2K2, PPP1CB, RAF1, SOS1, SOS216.00
2Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS111.65
3Noonan syndrome 1EnrichmentCBL, HRAS, MAP2K1, MAP2K2, PPP1CB, RAF1, SOS1, SOS210.93
4HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN, RHEB10.59
5Leukoencephalopathy with vanishing white matter 1EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B510.53
6Leukoencephalopathy with vanishing white matter 5EnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B510.14
7Leukoencephalopathy with vanishing white matterEnrichmentEIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B59.91
8Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC29.59
9Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC29.59
10Noonan syndrome 3EnrichmentHRAS, PTPN11, RAF1, SOS18.78
11Type 2 diabetes mellitusEnrichmentAKT2, INSR, IRS1, IRS2, PPP1R3A, SLC2A47.80
12Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT37.73
13Lung non-small cell carcinomaEnrichmentEGFR, HRAS, MAP2K1, PIK3CA7.39
14Adult hepatocellular carcinomaEnrichmentEGF, PIK3CA, TSC1, TSC27.31
15Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R27.13
16Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA5.81
17Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA5.66
18Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN5.61
19Specific learning disabilityEnrichmentGHR, MAPK1, PTPN115.35
20MeningiomaEnrichmentAKT1, PIK3CA, PTEN5.19
21Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, PIK3CA5.08
22Bladder cancerEnrichmentEGFR, HRAS, PIK3CA, TSC15.06
23Colorectal cancerEnrichmentAKT1, MET, PIK3CA, PIK3R1, SRC4.92
24LymphangioleiomyomatosisEnrichmentTSC1, TSC24.79
25Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.69
26Immune system diseaseEnrichmentCDC42, PIK3CD4.69
27Stuve-wiedemann syndrome 1EnrichmentIL6ST, LIFR4.66
28Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.66
29Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.66
30Cold-induced sweating syndromeEnrichmentCLCF1, CRLF14.66
31Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.66
32Stüve-wiedemann syndromeEnrichmentIL6ST, LIFR4.66
33Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K24.36
34Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.36
35Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K24.36
36Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF14.36
37Tuberous sclerosis 1EnrichmentTSC1, TSC24.32
38HamartomaEnrichmentTSC1, TSC24.32
39Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR24.21
40Crisponi/cold-induced sweating syndrome 1EnrichmentCLCF1, CRLF14.14
41Breast cancerEnrichmentAKT1, JUN, PIK3CA, SHC14.08
42Ovarian cancerEnrichmentAKT1, EGFR, MAP3K1, PIK3CA, TSC24.02
43Tuberous sclerosisEnrichmentTSC1, TSC24.02
44Insulin-like growth factor iEnrichmentIGF1, IGF1R4.01
45EnophthalmosEnrichmentCSNK2B, DYRK1A3.98
46Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.97
47Cowden syndrome 1EnrichmentPIK3CA, PTEN3.84
48Proteus syndromeEnrichmentAKT13.83
49Cowden syndrome 6EnrichmentAKT13.83
50Nevus, epidermalEnrichmentHRAS, PIK3CA3.82
51Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA3.82
52Overgrowth syndromeEnrichmentMTOR, PIK3R13.82
53Lung squamous cell carcinomaEnrichmentEGFR, PIK3CA3.76
54Lung cancerEnrichmentEGFR, MET, PIK3CA3.74
55MyelofibrosisEnrichmentJAK2, SRC3.71
56Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.70
57Thyroid cancer, nonmedullary, 2EnrichmentHRAS, PTEN3.69
58Follicular thyroid carcinomaEnrichmentHRAS, PTEN3.69
59Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.49
60Hereditary breast carcinomaEnrichmentAKT1, PIK3CA, PTEN3.45
61Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB3.24
62Loeys-dietz syndromeEnrichmentTGFBR1, TGFBR23.14
63Nk-cell enteropathyEnrichmentIGF1R, PIK3CB3.13
64Marfan syndromeEnrichmentTGFBR1, TGFBR23.04
65Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, DYRK1A, MAP2K12.95
66RhabdomyosarcomaEnrichmentHRAS, PTEN2.94
6746,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS12.74
68Endometrial cancerEnrichmentPIK3CA, PTEN2.70
69Lynch syndromeEnrichmentPIK3CA, TGFBR22.68
70Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.65
71Hepatocellular carcinomaEnrichmentMET, PIK3CA2.59
72MacrodactylyEnrichmentPIK3CA2.56
73MetachondromatosisEnrichmentPTPN112.56
74Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.56
75Noonan syndrome 5EnrichmentRAF12.56
76Noonan syndrome 4EnrichmentSOS12.56
77Melorheostosis, isolatedEnrichmentMAP2K12.56
78Megalencephaly, autosomal dominantEnrichmentPIK3CA2.56
79Dermatitis, atopic, 4EnrichmentSOCS32.56
80Leopard syndrome 1EnrichmentPTPN112.56
81Cardiomyopathy, dilated, 1nnEnrichmentRAF12.56
82Cowden syndrome 5EnrichmentPIK3CA2.56
83Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.56
84Noonan syndrome 9EnrichmentSOS22.56
85Cerebral cavernous malformations 4EnrichmentPIK3CA2.56
86Stuve-wiedemann syndrome 2EnrichmentIL6ST2.56
87Noonan syndrome 13EnrichmentMAPK12.56
88Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST2.56
89Short syndromeEnrichmentPIK3R12.56
90T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.56
91Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.56
92Hemifacial myohyperplasiaEnrichmentPIK3CA2.56
93Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.56
94MelorheostosisEnrichmentMAP2K12.56
95Leopard syndrome 2EnrichmentRAF12.56
96Immunodeficiency 31aEnrichmentSTAT12.56
97Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.56
98Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.56
99Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.56
100Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.56
101Immunodeficiency 31bEnrichmentSTAT12.56
102Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.56
103Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST2.56
104Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST2.56
105TrigonitisEnrichmentRAF12.56
106Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.56
107HypospadiasEnrichmentPIK3CA2.56
108Capillary hemangiomaEnrichmentAKT32.56
109Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.56
110Rare venous malformationEnrichmentPIK3CA2.56
111Diaphragmatic eventrationEnrichmentPIK3CA2.56
112Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.56
113Rare combined vascular malformationEnrichmentPIK3CA2.56
114Cavernous lymphangiomaEnrichmentPIK3CA2.56
115Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.56
116Phakomatosis pigmentokeratoticaEnrichmentHRAS2.56
117Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.56
118Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.56
119Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.56
120Eccrine angiomatous hamartomaEnrichmentPIK3CA2.56
121Macrodactyly of toeEnrichmentPIK3CA2.56
122Akt2-related familial partial lipodystrophyEnrichmentAKT22.56
123Malignant astrocytomaEnrichmentPTPN112.56
124Laron syndromeEnrichmentGHR2.51
125Growth hormone insensitivity, partialEnrichmentGHR2.51
126Thrombocytopenia 6EnrichmentSRC2.51
127Vegetative pyoderma gangrenosumEnrichmentPTPN62.51
128Bullous pyoderma gangrenosumEnrichmentPTPN62.51
129Pustular pyoderma gangrenosumEnrichmentPTPN62.51
130Classic pyoderma gangrenosumEnrichmentPTPN62.51
131Donohue syndromeEnrichmentINSR2.50
132Hypothyroidism, congenital, nongoitrous, 9EnrichmentIRS42.50
133Vacterl association with hydrocephalusEnrichmentPTEN2.50
134Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.50
135Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.50
136Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.50
137Autism 19EnrichmentEIF4E2.50
138Papillary tumor of the pineal regionEnrichmentPTEN2.50
139Microvascular complications of diabetes 1EnrichmentVEGFA2.50
140Glioma susceptibility 2EnrichmentPTEN2.50
141Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.50
142Non-immune hydrops fetalisEnrichmentHRAS, PTPN112.49
143Parkinson disease 18, autosomal dominantEnrichmentEIF4G12.47
144Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.47
145Neurodevelopmental disorder with hypotonia and speech delay, with or without seizuresEnrichmentEIF4A22.47
146Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.47
147Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.47
148Cardioacrofacial dysplasia 1EnrichmentPRKACA2.47
149Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.47
150Deafness, autosomal recessive 26EnrichmentGAB12.46
151Hypomagnesemia 4, renalEnrichmentEGF2.46
152Deafness, autosomal recessive 39EnrichmentHGF2.46
153Angioedema, hereditary, 4EnrichmentPLG2.46
154Osteofibrous dysplasiaEnrichmentMET2.46
155Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.46
156Deafness, autosomal recessive 97EnrichmentMET2.46
157Autism 9EnrichmentMET2.46
158Arthrogryposis, distal, type 11EnrichmentMET2.46
159Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.46
160Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.46
161Lethal hydranencephaly-diaphragmatic hernia syndromeEnrichmentPLAT2.46
162Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.46
163Prostate cancerEnrichmentPIK3CA, PTEN2.42
164Mehmo syndromeEnrichmentEIF2S32.39
165Leukoencephalopathy with vanishing white matter 3EnrichmentEIF2B32.39
166Spinocerebellar ataxia 26EnrichmentEEF22.39
167Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.39
168Leukoencephalopathy with vanishing white matter 2EnrichmentEIF2B22.39
169Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A2.39
170Carney complex, type 1EnrichmentPRKAR1A2.39
171Cardioacrofacial dysplasia 2EnrichmentPRKACB2.39
172Myxoma, intracardiacEnrichmentPRKAR1A2.39
173Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B2.39
174Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D2.38
175Intellectual developmental disorder, autosomal dominant 7EnrichmentDYRK1A2.38
176Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK22.38
177Leukoencephalopathy, motor delay, spasticity, and dysarthria syndromeEnrichmentEIF2AK12.38
178Dystonia 33EnrichmentEIF2AK22.38
179Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.34
180Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.34
18146,xy sex reversal 6EnrichmentMAP3K12.34
182Frontometaphyseal dysplasia 2EnrichmentMAP3K72.34
183Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.34
184Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.34
185Takenouchi-kosaki syndromeEnrichmentCDC422.34
186Neurodevelopmental disorder with language delay and seizuresEnrichmentTIAM12.34
187Nocarh syndromeEnrichmentCDC422.34
188Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.34
189Fibromatosis, gingival, 1EnrichmentSOS12.26
190Costello syndromeEnrichmentHRAS2.26
191Pulmonic stenosisEnrichmentSOS12.26
192Crisponi/cold-induced sweating syndrome 2EnrichmentCLCF12.26
193Keratosis, seborrheicEnrichmentPIK3CA2.26
194Roifman-chitayat syndromeEnrichmentPIK3CD2.26
195Noonan syndrome 8EnrichmentPIK3CA2.26
196Thrombocythemia 3EnrichmentJAK22.26
197Immunodeficiency 31cEnrichmentSTAT12.26
198Werner syndromeEnrichmentPTPN112.26
199Cebalid syndromeEnrichmentMTOR2.26
200Senior-loken syndrome 7EnrichmentAKT32.26
201Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.26
202Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.26
203Bardet-biedl syndrome 16EnrichmentAKT32.26
204Cold-induced sweating syndrome 2EnrichmentCLCF12.26
205Cold-induced sweating syndrome including crisponi syndromeEnrichmentCRLF12.26
206Smith-kingsmore syndromeEnrichmentMTOR2.26
207PolycythemiaEnrichmentJAK22.26
208Hypereosinophilic syndromeEnrichmentJAK22.26
209Tafro syndromeEnrichmentMAP2K22.26
210Wooly hair nevusEnrichmentHRAS2.26
211Growth hormone deficiency, isolated partialEnrichmentGHR2.21
212Kowarski syndromeEnrichmentGH12.21
213Inflammatory skin and bowel disease, neonatal, 1EnrichmentADAM172.21
214Short stature due to growth hormone qualitative anomalyEnrichmentGH12.21
215Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR2.20
216Maturity-onset diabetes of the young, type 10EnrichmentINS2.20
217HyperproinsulinemiaEnrichmentINS2.20
218Diabetes mellitus, permanent neonatal, 4EnrichmentINS2.20
219Vacterl with hydrocephalusEnrichmentPTEN2.20
220Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF12.20
221Juvenile polyposis of infancyEnrichmentPTEN2.20
222Fibrolamellar carcinomaEnrichmentPRKACA2.17
223Plasminogen deficiency, type iEnrichmentPLG2.16
224Quebec platelet disorderEnrichmentPLAU2.16
225Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B2.16
226Childhood hepatocellular carcinomaEnrichmentMET2.16
227Papillary renal cell carcinomaEnrichmentMET2.16
228Hereditary angioedemaEnrichmentPLG2.16
229Leukoencephalopathy with vanishing white matter 4EnrichmentEIF2B42.09
230Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB2.09
231Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.09
232Vitamin d hydroxylation-deficient rickets, type 1bEnrichmentPDE3B2.09
233Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A2.09
234Bleeding disorder, platelet-type, 19EnrichmentPRKACG2.09
235Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B2.09
236Usher syndrome, type ivEnrichmentPRKAR1A2.09
237AcrodysostosisEnrichmentPRKAR1A2.09
238Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B2.09
239Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.09
240Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.09
241Polycythemia veraEnrichmentJAK22.09
242Pompe disease, infantile-onsetEnrichmentPIK3CA2.09
243Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC22.09
244Nuchal bleb, familialEnrichmentSOS12.09
245Langerhans cell histiocytosisEnrichmentMAP2K12.09
246Cone-rod dystrophy 12EnrichmentCRLF12.09
247Tuberous sclerosis 2EnrichmentTSC22.09
248Large congenital melanocytic nevusEnrichmentHRAS2.09
249Hyper ige syndromeEnrichmentSTAT32.09
250Xanthinuria, type iiEnrichmentTSC22.09
251SpermatocytomaEnrichmentHRAS2.09
252Tricuspid valve insufficiencyEnrichmentPTPN112.09
253KeratoacanthomaEnrichmentPIK3CA2.09
254Gastric cancerEnrichmentPIK3CA, PTEN2.09
255Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK32.08
256Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentEIF2AK42.08
257Ovarian germ cell cancerEnrichmentCBL2.08
258Pulmonary venoocclusive disease 2, autosomal recessiveEnrichmentEIF2AK42.08
259Pulmonary venoocclusive disease 1EnrichmentEIF2AK42.08
260Pulmonary venoocclusive disease 2EnrichmentEIF2AK42.08
261Leukodystrophy, hypomyelinating, 17EnrichmentEIF2AK12.08
262Malignant germ cell tumor of ovaryEnrichmentCBL2.08
263Pulmonary venoocclusive diseaseEnrichmentEIF2AK42.08
264Camurati-engelmann disease 1EnrichmentTGFB12.04
265Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathiaEnrichmentIGBP12.04
266Microvascular complications of diabetes 5EnrichmentTGFBR22.04
267Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.04
268Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.04
269Camurati-engelmann diseaseEnrichmentTGFB12.04
270Houge-janssens syndrome 3EnrichmentPPP2CA2.04
271Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeEnrichmentIGBP12.04
272Neutrophilic dermatosis, acute febrileEnrichmentPTPN62.03
273Isolated growth hormone deficiency, type ibEnrichmentGH12.03
274Myxoid liposarcomaEnrichmentDDIT32.03
275Neonatal inflammatory skin and bowel diseaseEnrichmentADAM172.03
276Type 1 diabetes mellitus 2EnrichmentINS2.02
277Laryngeal squamous cell carcinomaEnrichmentPTEN2.02
278Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R2.02
279EnchondromatosisEnrichmentHIF1A2.02
280ThrombocytopeniaEnrichmentPTPN11, SRC2.02
281Heparin cofactor ii deficiencyEnrichmentEIF4G31.99
282Prognathism, mandibularEnrichmentCSNK2B1.98
283Angioedema, hereditary, 1EnrichmentPLG1.98
284Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.98
285Renal cell carcinomaEnrichmentMET1.98
286Erythrocytosis, familial, 1EnrichmentJAK21.96
287Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.96
288Budd-chiari syndromeEnrichmentJAK21.96
289Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.96
290Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.96
291Congenital generalized lipodystrophyEnrichmentFOS1.96
292Cold-induced sweating syndrome 1EnrichmentCRLF11.96
293Cerebrovascular diseaseEnrichmentPIK3CA1.96
294Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN111.96
295Epidermolytic nevusEnrichmentHRAS1.96
296Idiopathic achalasiaEnrichmentCRLF11.96
297Familial cerebral cavernous malformationsEnrichmentPIK3CA1.96
298Gingival fibromatosisEnrichmentSOS11.96
299Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.96
300Vitamin d hydroxylation-deficient rickets, type 1aEnrichmentPDE3B1.92
301Lipodystrophy, familial partial, type 6EnrichmentLIPE1.92
302Isolated growth hormone deficiency, type iiEnrichmentGH11.91
303Menkes diseaseEnrichmentEIF2AK31.90
304Torsion dystonia 1EnrichmentEIF2AK21.90
305Advanced sleep phase syndromeEnrichmentCSNK1D1.90
306Neonatal diabetes mellitusEnrichmentINS1.90
307GliomaEnrichmentPTEN1.90
308Capillary malformations, congenitalEnrichmentPIK3CA1.87
309LymphomaEnrichmentPTPN111.87
310Myeloproliferative neoplasmEnrichmentJAK21.87
311Histiocytoid hemangiomaEnrichmentFOS1.87
312Frontometaphyseal dysplasiaEnrichmentMAP3K71.86
313SyndactylyEnrichmentCSNK2B1.86
314Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.86
315Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.80
316Macrocephaly/autism syndromeEnrichmentPTEN1.80
317HemangiomaEnrichmentPTEN1.80
318Acute megakaryocytic leukemiaEnrichmentPTEN1.80
319Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentPDHA11.79
320Carney complex variantEnrichmentPRKAR1A1.79
321Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.79
322Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.79
323Hemihyperplasia, isolatedEnrichmentPIK3CA1.79
324Patent ductus arteriosusEnrichmentPTPN111.79
325Chronic mucocutaneous candidiasisEnrichmentSTAT11.79
326Familial thoracic aortic aneurysm and aortic dissectionEnrichmentTGFBR1, TGFBR21.76
327Alzheimer disease 2EnrichmentPLAU1.76
328Aortic aneurysmEnrichmentTGFBR11.74
329Type 1 diabetes mellitusEnrichmentINS1.72
33046,xy disorder of sex developmentEnrichmentINSR1.72
331Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.72
332Renal cell carcinoma, papillary, 1EnrichmentMTOR1.72
333Polycystic kidney disease 1EnrichmentTSC21.72
334Essential thrombocythemiaEnrichmentJAK21.72
335Gallbladder cancerEnrichmentPIK3CA1.72
336Pilomyxoid astrocytomaEnrichmentRAF11.72
337MegacolonEnrichmentAKT31.72
338Complex neurodevelopmental disorderEnrichmentEIF4A2, PPP2CA, TIAM11.72
339Aggressive systemic mastocytosisEnrichmentCBL1.68
340Permanent neonatal diabetes mellitusEnrichmentSTAT31.67
341Squamous cell carcinoma, head and neckEnrichmentPTEN1.66
342Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.66
343Inherited cancer-predisposing syndromeEnrichmentEGFR, TSC1, TSC21.65
344KeratoconusEnrichmentTSC11.62
345Adrenocortical carcinomaEnrichmentPRKAR1A1.62
346Leukemia, acute lymphoblastic 3EnrichmentJAK21.61
347Isolated growth hormone deficiency, type iaEnrichmentGH11.61
348Lennox-gastaut syndromeEnrichmentMAPK101.57
349PolymicrogyriaEnrichmentAKT31.57
350Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.57
351Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.57
352Classic ehlers-danlos syndromeEnrichmentTGFBR11.57
353Arthrogryposis, distal, type 1aEnrichmentMET1.56
354Renal hypodysplasia/aplasia 1EnrichmentITGA81.56
355Pectus excavatumEnrichmentPTPN111.53
356Renal agenesis, bilateralEnrichmentITGA81.51
357MelanomaEnrichmentPTEN1.50
358Esophageal cancerEnrichmentTGFBR21.50
359EpicanthusEnrichmentPTPN111.49
360Juvenile myelomonocytic leukemiaEnrichmentPTPN111.49
361Congenital long qt syndromeEnrichmentPTPN111.49
362Meningioma, familialEnrichmentPTEN1.46
363Diabetes mellitusEnrichmentINS1.46
364Uterine corpus cancerEnrichmentPTEN1.46
365Aortic valve disease 1EnrichmentSOS11.46
366Acute promyelocytic leukemiaEnrichmentSTAT31.46
367Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET1.42
368Hypercholesterolemia, familial, 1EnrichmentGHR1.40
369Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.40
370Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.40
371Rare genetic intellectual disabilityEnrichmentMTOR1.40
372Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.39
373Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.39
374OsteoporosisEnrichmentSRC1.37
375Neural tube defectsEnrichmentITGB11.36
376MicrocephalyEnrichmentMAPK1, PTPN111.35
377Congenital nervous system abnormalityEnrichmentPTEN, TSC21.35
378Nervous system diseaseEnrichmentPTEN, TSC21.35
379Heritable pulmonary arterial hypertensionEnrichmentEIF2AK41.34
380Familial hypercholesterolemiaEnrichmentGHR1.34
381Lung cancer susceptibility 3EnrichmentEGFR1.32
382Heart, malformation ofEnrichmentMAPK11.32
383Patent foramen ovaleEnrichmentPTPN111.32
38446,xy complete gonadal dysgenesisEnrichmentMAP3K11.31
385Diffuse large b-cell lymphomaEnrichmentSTAT31.30
386Premature menopauseEnrichmentEIF2B21.29
387Pulmonary disease, chronic obstructiveEnrichmentPDE3B1.29
388Pulmonary hypertension, primary, 1EnrichmentEIF2AK41.27
389GliosarcomaEnrichmentEGFR1.27
390Alzheimer disease, familial, 1EnrichmentPLAU1.24
391Giant cell glioblastomaEnrichmentEGFR1.24
392Kidney diseaseEnrichmentTSC11.23
393Male infertility with spermatogenesis disorderEnrichmentDYRK1A1.21
394Maturity-onset diabetes of the youngEnrichmentINS1.21
395Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.20
396ScoliosisEnrichmentPTPN111.20
397Arteriovenous malformations of the brainEnrichmentEGFR1.19
398Dandy-walker syndromeEnrichmentPPP1CB1.18
399Sudden infant death syndromeEnrichmentPDHA11.18
400StrabismusEnrichmentPTPN111.15
401Differentiated thyroid carcinomaEnrichmentHRAS1.12
402Williams-beuren syndromeEnrichmentEIF4H1.11
403Parkinson disease, late-onsetEnrichmentEIF4G11.11
404Long qt syndrome 1EnrichmentPTPN111.10
405Ehlers-danlos syndromeEnrichmentTGFBR21.08
406Familial hypertrophic cardiomyopathyEnrichmentRAF11.06
407MicrophthalmiaEnrichmentDYRK1A1.05
408CakutEnrichmentLIFR1.05
409Brittle bone disorderEnrichmentEIF2B21.05
410Left ventricular noncompactionEnrichmentRAF11.04
411Developmental and epileptic encephalopathy 1EnrichmentCSNK1E1.00
412Leukemia, acute myeloidEnrichmentJAK20.98
413Cystic fibrosisEnrichmentPLG0.98
414Hypertrophic cardiomyopathyEnrichmentPTPN110.95
415West syndromeEnrichmentTSC20.95
416HypertelorismEnrichmentPIK3CA0.88
417Familial isolated dilated cardiomyopathyEnrichmentRAF10.87
418Connective tissue diseaseEnrichmentTGFBR20.86
419Myeloma, multipleEnrichmentPIK3R20.85
420Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.85
421Primary ovarian insufficiencyEnrichmentJAK20.83
422Sensorineural hearing lossEnrichmentHGF0.81
423Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B0.80
424Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.79
425Dilated cardiomyopathyEnrichmentRAF10.71
426Primary ciliary dyskinesiaEnrichmentPRKAR1B0.57

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