ESR-mediated signaling

Pathway network for the ESR-mediated signaling SuperPath

Sources:
  • Reactome

Pathways in the ESR-mediated signaling SuperPath

#NameSourceGenes
1ESR-mediated signalingReactome
2Signaling by Nuclear ReceptorsReactome
(see all 296) (see less)
3Estrogen-dependent gene expressionReactome
4RUNX1 regulates estrogen receptor mediated transcriptionReactome

Gene overlap in member pathways for ESR-mediated signaling SuperPath

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

Disorders associated with ESR-mediated signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, NRAS, PIK3CA6.32
2Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C95.89
3Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA5.63
4Lipid metabolism disorderEnrichmentABCG5, ABCG8, APOE, CETP5.49
5Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS4.77
6Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R24.77
7Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA4.08
8Lung squamous cell carcinomaEnrichmentEGFR, KRAS, PIK3CA4.08
9Cornelia de lange syndrome 1EnrichmentRAD21, SMC1A, SMC33.98
10Cornelia de lange syndromeEnrichmentRAD21, SMC1A, SMC33.98
11Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C33.92
12Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C113.92
13Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.92
14Leukemia, chronic myeloidEnrichmentKRAS, NRAS, RUNX13.84
15Myeloma, multipleEnrichmentCCND1, CREBBP, H3C1, KRAS, NCOR2, PIK3R2, RXRA3.69
16Breast cancerEnrichmentAKT1, ESR1, GNG3, JUN, KRAS, PIK3CA, SHC13.66
17Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.64
18Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS3.57
19Adult hepatocellular carcinomaEnrichmentAXIN1, EGF, PIK3CA3.47
20Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.45
21High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC3.45
22Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, H4C3, H4C5, H4C9, KDM4B, TNRC6B3.36
23Caudal duplication anomalyEnrichmentAXIN13.35
24Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN13.35
25Gallbladder disease 4EnrichmentABCG5, ABCG83.32
26Colorectal cancerEnrichmentAKT1, CCND1, EP300, NRAS, PIK3CA, PIK3R1, SRC3.26
27Coronary heart disease 5EnrichmentABCA1, ABCG5, ABCG83.11
28Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.10
29Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.10
30Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, PIK3CA3.07
31Storage pool platelet diseaseEnrichmentRUNX13.05
32Cleidocranial dysplasia 2EnrichmentCBFB3.05
33Tafro syndromeEnrichmentRUNX13.05
34Histiocytoid hemangiomaEnrichmentFOS, FOSB2.93
35Bladder cancerEnrichmentEGFR, HRAS, KRAS, PIK3CA2.92
36Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX12.88
37Estrogen resistanceEnrichmentESR12.88
38Migraine without auraEnrichmentESR12.88
39Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX12.88
40Sitosterolemia 1EnrichmentABCG5, ABCG82.85
41SitosterolemiaEnrichmentABCG5, ABCG82.85
42Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R22.81
43Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS2.81
44Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS2.77
45Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.76
46Wiedemann-steiner syndromeEnrichmentSMC1A, SMC32.76
47Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.76
48Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR12.75
49Blood platelet diseaseEnrichmentRUNX12.75
50Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentCBFB2.75
51Aggressive systemic mastocytosisEnrichmentRUNX12.66
52Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentRUNX12.66
53HemimegalencephalyEnrichmentAKT3, PIK3CA2.59
54PancytopeniaEnrichmentRUNX12.58
55Pyruvate dehydrogenase e1-alpha deficiencyEnrichmentPDHA1, PDHX2.56
56Glioma susceptibility 1EnrichmentH3-3A, H3C12.49
57Cowden syndrome 1EnrichmentEGFR, PIK3CA2.42
58Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX12.40
59Alzheimer disease 2EnrichmentAPOE, NOS32.34
60Migraine with or without aura 1EnrichmentESR12.31
61Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS2.28
62Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA2.28
63Noonan syndrome 3EnrichmentHRAS, KRAS2.28
64Gallbladder cancerEnrichmentKRAS, PIK3CA2.28
65Follicular thyroid carcinomaEnrichmentHRAS, NRAS2.28
66Hereditary breast carcinomaEnrichmentAKT1, ESR1, KRAS, PIK3CA2.25
67Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS2.22
68Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS2.16
69RasopathyEnrichmentHRAS, KRAS, NRAS2.07
70Arteriovenous malformationEnrichmentHRAS, PIK3CA2.05
71Cowden syndromeEnrichmentAKT1, PIK3CA2.05
72Hepatocellular carcinomaEnrichmentAXIN12.01
73Myocardial infarctionEnrichmentESR12.01
74Developmental and epileptic encephalopathy 85 with or without midline brain defectsEnrichmentSMC1A1.96
75Hyperlipidemia, familial combined, 1EnrichmentUSF11.96
76Holoprosencephaly 13, x-linkedEnrichmentSTAG21.96
77Cornelia de lange syndrome 3 with or without midline brain defectsEnrichmentSMC31.96
78Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD1.96
79Cornelia de lange syndrome 4 with or without midline brain defectsEnrichmentRAD211.96
80Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B1.96
81Mullegama-klein-martinez syndromeEnrichmentSTAG21.96
82Progesterone resistanceEnrichmentPGR1.96
83Intellectual developmental disorder, autosomal dominant 47EnrichmentSTAG11.96
84Mungan syndromeEnrichmentRAD211.96
85Cerebral palsy, spastic quadriplegic, 2EnrichmentKANK11.96
86Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.96
87Amyotrophic lateral sclerosis 19EnrichmentERBB41.96
88Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A1.96
89Congenital anomalies of kidney and urinary tract 3EnrichmentNRIP11.96
90Xq25 microduplication syndromeEnrichmentSTAG21.96
91Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.96
92Menke-hennekam syndrome 1EnrichmentCREBBP1.96
93Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.96
94Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.96
95Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.96
96Menke-hennekam syndromeEnrichmentCREBBP1.96
97Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA1.96
98Rare genetic intellectual disabilityEnrichmentCREBBP, EP3001.94
99Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS1.94
100Homozygous familial hypercholesterolemiaEnrichmentABCG5, ABCG81.91
101Long qt syndrome 1EnrichmentCALM1, CALM2, CALM31.90
102Lung cancerEnrichmentEGFR, KRAS, PIK3CA1.82
103Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS1.80
104MeningiomaEnrichmentAKT1, PIK3CA1.80
105Semilobar holoprosencephalyEnrichmentSMC1A, STAG21.79
106MacrodactylyEnrichmentPIK3CA1.79
107Proteus syndromeEnrichmentAKT11.79
108Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.79
109Oculoectodermal syndromeEnrichmentKRAS1.79
110Hypomagnesemia 4, renalEnrichmentEGF1.79
111Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.79
112Megalencephaly, autosomal dominantEnrichmentPIK3CA1.79
113Cowden syndrome 5EnrichmentPIK3CA1.79
114Melanosis, neurocutaneousEnrichmentNRAS1.79
115Noonan syndrome 6EnrichmentNRAS1.79
116Pulmonary hypertension, primary, 3EnrichmentCAV11.79
117Ventricular tachycardia, familialEnrichmentGNAI21.79
118Cerebral cavernous malformations 4EnrichmentPIK3CA1.79
119Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.79
120Noonan syndrome 13EnrichmentMAPK11.79
121Short syndromeEnrichmentPIK3R11.79
122Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.79
123Lipodystrophy, familial partial, type 7EnrichmentCAV11.79
124Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.79
125Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.79
126Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.79
127Hemifacial myohyperplasiaEnrichmentPIK3CA1.79
128Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.79
129Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB11.79
130Ovarian dysgenesis 8EnrichmentESR21.79
131Neuroendocrine tumorEnrichmentCDKN1B1.79
132Coronary heart disease 6EnrichmentMMP31.79
133Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.79
134Long qt syndrome 16EnrichmentCALM31.79
135Cowden syndrome 6EnrichmentAKT11.79
136Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.79
137Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.79
138Thrombocytopenia 6EnrichmentSRC1.79
139Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.79
140Sick sinus syndrome 4EnrichmentGNB21.79
141Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.79
142Long qt syndrome 15EnrichmentCALM21.79
143HypospadiasEnrichmentPIK3CA1.79
144Capillary hemangiomaEnrichmentAKT31.79
145Congenital pulmonary airway malformationEnrichmentKRAS1.79
146Rare venous malformationEnrichmentPIK3CA1.79
147Diaphragmatic eventrationEnrichmentPIK3CA1.79
148Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.79
149Rare combined vascular malformationEnrichmentPIK3CA1.79
150Cavernous lymphangiomaEnrichmentPIK3CA1.79
151Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.79
152Phakomatosis pigmentokeratoticaEnrichmentHRAS1.79
153Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.79
154Eccrine angiomatous hamartomaEnrichmentPIK3CA1.79
155Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.79
156Macrodactyly of toeEnrichmentPIK3CA1.79
157Neurocutaneous melanocytosisEnrichmentNRAS1.79
158Akt2-related familial partial lipodystrophyEnrichmentAKT21.79
159Leukemia, acute myeloidEnrichmentRUNX11.76
160Nk-cell enteropathyEnrichmentERBB4, IGF1R1.73
161ThrombocytopeniaEnrichmentRUNX11.68
162Lung cancer susceptibility 3EnrichmentEGFR, KRAS1.67
163Sea-blue histiocyte diseaseEnrichmentAPOE1.66
164Phosphoenolpyruvate carboxykinase deficiency, cytosolicEnrichmentPCK11.66
165Charcot-marie-tooth disease, x-linked dominant, 6EnrichmentPDK31.66
166Hypothyroidism, congenital, nongoitrous, 8EnrichmentTBL1X1.66
167Lipoprotein glomerulopathyEnrichmentAPOE1.66
168Mucoepithelial dysplasia, hereditaryEnrichmentSREBF11.66
169Ifap syndrome 2EnrichmentSREBF11.66
170Diaphragmatic hernia 4, with cardiovascular defectsEnrichmentALDH1A21.66
171Radiohumeral fusions with other skeletal and craniofacial anomaliesEnrichmentCYP26B11.66
172Focal facial dermal dysplasia 4EnrichmentCYP26C11.66
173Microphthalmia, syndromic 12EnrichmentRARB1.66
174Spermatogenic failure 70EnrichmentPDHA21.66
175Lethal occipital encephalocele-skeletal dysplasia syndromeEnrichmentCYP26B11.66
176HypoalphalipoproteinemiaEnrichmentABCA11.66
177Burkitt lymphomaEnrichmentMYC1.66
178Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.66
179Thumb deformityEnrichmentCREBBP1.66
180Cornelia de lange syndrome 2EnrichmentSMC1A1.66
181Spinocerebellar ataxia 17EnrichmentTBP1.66
182Waardenburg syndrome, type 4cEnrichmentPOLR2F1.66
183Premature ovarian failure 3EnrichmentAGO21.66
184Gabriele-de vries syndromeEnrichmentYY11.66
185Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.66
186Intellectual developmental disorder, autosomal dominant 65EnrichmentKDM4B1.66
187Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.66
188Menke-hennekam syndrome 2EnrichmentEP3001.66
189Intravascular large b-cell lymphomaEnrichmentBCL21.66
190Acute basophilic leukemiaEnrichmentMYB1.66
191Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.66
192Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.66
193Angiocentric gliomaEnrichmentMYB1.66
194Developmental and epileptic encephalopathy 78EnrichmentYY11.66
195InsulinomaEnrichmentYY11.66
196B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.66
197Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.66
198Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.66
199Lynch syndromeEnrichmentKRAS, PIK3CA1.61
200Ovarian cancerEnrichmentAKT1, CDKN1B, EGFR, KRAS, PIK3CA1.60
201Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYB, MYC1.58
202Hypertension, essentialEnrichmentGNB3, NOS31.51
203Acute promyelocytic leukemiaEnrichmentRARA, TBL1XR11.50
204Costello syndromeEnrichmentHRAS1.49
205Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.49
206Histiocytoma, angiomatoid fibrousEnrichmentCREB11.49
207Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.49
208Keratosis, seborrheicEnrichmentPIK3CA1.49
209Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.49
210Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB11.49
211Night blindness, congenital stationary, type 1hEnrichmentGNB31.49
212Noonan syndrome 8EnrichmentPIK3CA1.49
213Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.49
214Long qt syndrome 14EnrichmentCALM11.49
215Senior-loken syndrome 7EnrichmentAKT31.49
216Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.49
217Metaphyseal anadysplasia 2EnrichmentMMP91.49
218Bardet-biedl syndrome 16EnrichmentAKT31.49
219HypopituitarismEnrichmentGNAI21.49
220Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.49
221Metaphyseal anadysplasiaEnrichmentMMP91.49
222Primary mediastinal large b-cell lymphomaEnrichmentXPO11.49
223Cerebral visual impairmentEnrichmentGNB11.49
224Wooly hair nevusEnrichmentHRAS1.49
225Waardenburg syndrome, type 2aEnrichmentPOLR2F1.49
226Pilarowski-bjornsson syndromeEnrichmentCHD11.49
227Tethered spinal cord syndromeEnrichmentCREBBP1.49
228Intraocular pressure quantitative trait locusEnrichmentCREBBP1.49
229End stage renal diseaseEnrichmentGATA31.49
230Adenoid cystic carcinomaEnrichmentMYB1.49
231Lessel-kreienkamp syndromeEnrichmentAGO21.49
232Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.49
233Arteriovenous malformations of the brainEnrichmentEGFR, KRAS1.42
234Apolipoprotein c-ii deficiencyEnrichmentAPOC21.36
235Tangier diseaseEnrichmentABCA11.36
236Dihydrolipoamide dehydrogenase deficiencyEnrichmentDLD1.36
237Alzheimer disease 3EnrichmentAPOE1.36
238Methemoglobinemia due to deficiency of methemoglobin reductaseEnrichmentDLD1.36
239Pyruvate dehydrogenase e2 deficiencyEnrichmentDLAT1.36
240Retinal dystrophy, juvenile cataracts, and short stature syndromeEnrichmentRDH111.36
241Pyruvate dehydrogenase e1-beta deficiencyEnrichmentPDHB1.36
242Pyruvate dehydrogenase e3-binding protein deficiencyEnrichmentPDHX1.36
243Intellectual developmental disorder, autosomal dominant 48EnrichmentRARB1.36
244Sitosterolemia 2EnrichmentABCG51.36
245Hyperlipoproteinemia, type iiiEnrichmentAPOE1.36
246Microphthalmia, isolated 8EnrichmentALDH1A31.36
247Familial apolipoprotein c-ii deficiencyEnrichmentAPOC21.36
248Short-rib thoracic dysplasia 15 with polydactylyEnrichmentABCG51.36
249Hypobetalipoproteinemia, familial, 2EnrichmentANGPTL31.36
250Developmental and epileptic encephalopathy 23EnrichmentANGPTL31.36
251Trichorhinophalangeal syndrome, type iiEnrichmentRAD211.36
252Congenital generalized lipodystrophyEnrichmentFOS1.36
253Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.36
254Mantle cell lymphomaEnrichmentCCND11.36
255Spastic quadriplegic cerebral palsyEnrichmentKANK11.36
256Pseudomyogenic hemangioendotheliomaEnrichmentFOSB1.36
257Thyroid carcinoma, familial medullaryEnrichmentESR21.32
258Pompe disease, infantile-onsetEnrichmentPIK3CA1.32
259Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.32
260Langerhans cell histiocytosisEnrichmentNRAS1.32
261Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.32
262Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.32
263Immunodeficiency 14EnrichmentPIK3R11.32
264SpermatocytomaEnrichmentHRAS1.32
265Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.32
266Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.32
267Melanoma of soft tissueEnrichmentCREB11.32
268KeratoacanthomaEnrichmentPIK3CA1.32
269MicrocephalyEnrichmentEP300, GNB1, IGF1R, MAPK1, SMC1A1.29
270Alzheimer disease, familial, 1EnrichmentAPOE, NOS31.28
271Sudden infant death syndromeEnrichmentCALM2, PDHA11.28
272CakutEnrichmentGATA3, NRIP11.27
273Hyperlipidemia, familial combined, 3EnrichmentUSF11.27
274Von hippel-lindau syndromeEnrichmentCCND11.27
275Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F1.27
276Rubinstein-taybi syndrome 2EnrichmentEP3001.27
277Follicular lymphomaEnrichmentBCL21.27
278Inherited cancer-predisposing syndromeEnrichmentRUNX11.24
279Diffuse large b-cell lymphomaEnrichmentCREBBP, TBL1XR11.20
280Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.19
281Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.19
282Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.19
283Auriculocondylar syndrome 1EnrichmentGNAI31.19
284Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.19
285Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.19
286Achromatopsia 4EnrichmentGNAI31.19
287Cardiofaciocutaneous syndromeEnrichmentKRAS1.19
288Lung sarcomatoid carcinomaEnrichmentKRAS1.19
289Cerebrovascular diseaseEnrichmentPIK3CA1.19
290Pilocytic astrocytomaEnrichmentKRAS1.19
291Epidermolytic nevusEnrichmentHRAS1.19
292Familial cerebral cavernous malformationsEnrichmentPIK3CA1.19
293Primary hyperparathyroidismEnrichmentCDKN1B1.19
294Familial sick sinus syndromeEnrichmentGNB21.19
295Hyperalphalipoproteinemia 1EnrichmentCETP1.19
296Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF11.19
297Pierpont syndromeEnrichmentTBL1XR11.19
298Alzheimer disease 4EnrichmentAPOE1.19
299Lipodystrophy, familial partial, type 4EnrichmentPLIN11.19
300Hypoalphalipoproteinemia, primary, 2EnrichmentABCA11.19
301Intellectual developmental disorder, autosomal dominant 41EnrichmentTBL1XR11.19
302Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK11.19
303Isolated anophthalmia-microphthalmia syndromeEnrichmentALDH1A31.19
304Waardenburg syndrome, type 4aEnrichmentPOLR2F1.19
305HypertrichosisEnrichmentCREBBP1.19
306Waardenburg syndromeEnrichmentPOLR2F1.19
307Waardenburg syndrome, type 1EnrichmentPOLR2F1.13
308Waardenburg syndrome, type 2eEnrichmentPOLR2F1.13
309Capillary malformations, congenitalEnrichmentPIK3CA1.10
310Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB11.10
311Major depressive disorderEnrichmentFKBP51.10
312Insulin-like growth factor iEnrichmentIGF1R1.10
313Pre-eclampsiaEnrichmentNOS31.10
314Diffuse cutaneous systemic sclerosisEnrichmentCAV11.10
315MicrophthalmiaEnrichmentALDH1A3, RARB1.08
316Macular degeneration, age-related, 1EnrichmentAPOE1.07
317Hypoalphalipoproteinemia, primary, 1EnrichmentABCA11.07
318Parkinson disease, mitochondrialEnrichmentADH1C1.07
319Spermatogenic failure 1EnrichmentPDHA21.07
320Rett syndrome, congenital variantEnrichmentSMC1A1.07
321Congenital stationary night blindnessEnrichmentGNB3, RDH51.05
322Long qt syndromeEnrichmentCALM1, CALM21.04
323Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.04
324Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.03
325Hemihyperplasia, isolatedEnrichmentPIK3CA1.03
326Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM11.03
327Limited sclerodermaEnrichmentCAV11.03
328Charge syndromeEnrichmentEP3001.02
329Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentTNRC6B1.02
330Parkinson disease, late-onsetEnrichmentADH1C, TBP1.02
331Leukemia, chronic lymphocyticEnrichmentCCND10.98
332Multiple endocrine neoplasia, type iEnrichmentCDKN1B0.96
333MyelofibrosisEnrichmentSRC0.96
334Squamous cell carcinoma, head and neckEnrichmentEGFR0.96
335Pilomyxoid astrocytomaEnrichmentKRAS0.96
336MegacolonEnrichmentAKT30.96
337Overgrowth syndromeEnrichmentPIK3R10.96
338Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.91
339HypothyroidismEnrichmentGNB10.91
340Alcohol dependenceEnrichmentADH1C0.91
341Hirschsprung disease 1EnrichmentPOLR2F, SREBF10.88
342Fundus albipunctatusEnrichmentRDH50.84
343Heart diseaseEnrichmentCREBBP0.84
344Stroke, ischemicEnrichmentNOS30.82
345PolymicrogyriaEnrichmentAKT30.82
346Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R10.82
347Polydactyly, postaxial, type a1EnrichmentEP3000.82
348Corpus callosum, agenesis ofEnrichmentCREBBP0.82
349Neuronal ceroid lipofuscinosisEnrichmentCTSD0.82
350Isolated corpus callosum agenesisEnrichmentCREBBP0.82
351Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.82
352Gastric cancerEnrichmentKRAS, PIK3CA0.81
353AsthmaEnrichmentFKBP50.78
354Leukemia, acute lymphoblasticEnrichmentGNB10.78
355Myelodysplastic syndromeEnrichmentGNB10.78
356Heritable pulmonary arterial hypertensionEnrichmentCAV10.78
357Specific learning disabilityEnrichmentMAPK10.78
358Alobar holoprosencephalyEnrichmentSTAG20.77
359Human immunodeficiency virus type 1EnrichmentCXCL120.74
360Esophageal atresia/tracheoesophageal fistulaEnrichmentPOLR2B0.72
361Parkinson's diseaseEnrichmentTBP0.72
362Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.71
363Protein-deficiency anemiaEnrichmentNRAS0.71
364Autosomal dominant non-syndromic intellectual disabilityEnrichmentERBB4, GNB10.71
365Crigler-najjar syndrome, type iEnrichmentUGT1A30.70
366Hyperbilirubinemia, transient familial neonatalEnrichmentUGT1A30.70
367Bilirubin, serum level of, quantitative trait locus 1EnrichmentUGT1A30.70
368Crigler-najjar syndrome, type iiEnrichmentUGT1A30.70
369OsteoporosisEnrichmentSRC0.69
370Gilbert syndromeEnrichmentUGT1A30.67
371NanophthalmosEnrichmentALDH1A30.67
372Bilirubin metabolic disorderEnrichmentUGT1A30.67
373Tooth agenesisEnrichmentTGFA0.67
374Kallmann syndromeEnrichmentPOLR2F0.65
375RhabdomyosarcomaEnrichmentHRAS0.63
376GliosarcomaEnrichmentEGFR0.63
377Lactic acidosisEnrichmentDLD0.63
378ScoliosisEnrichmentCREBBP0.63
379Cleft palate, isolatedEnrichmentGNB10.61
380Giant cell glioblastomaEnrichmentEGFR0.61
381Microphthalmia/coloboma 12EnrichmentRARB0.60
382Alzheimer's diseaseEnrichmentAPOE0.60
383Congenital nervous system abnormalityEnrichmentCREBBP, GNB5, SMC1A0.60
384Nervous system diseaseEnrichmentCREBBP, GNB5, SMC1A0.60
385Primary ovarian insufficiencyEnrichmentNOS3, NR5A20.60
386Heart, malformation ofEnrichmentMAPK10.59
387Autism spectrum disorderEnrichmentGNB1, SMC3, TNRC6B0.58
388Multiple sclerosisEnrichmentNR1H30.58
389Coloboma of maculaEnrichmentRARB0.55
390Familial hypercholesterolemiaEnrichmentAPOE0.55
391Endometrial cancerEnrichmentPIK3CA0.53
392Attention deficit-hyperactivity disorderEnrichmentGNB50.52
393Pancreatic cancerEnrichmentKRAS0.47
394Hydrops fetalis, nonimmuneEnrichmentHRAS0.46
395Macs syndromeEnrichmentALDH1A30.45
396AzoospermiaEnrichmentPDHA20.45
397StrabismusEnrichmentGNB10.44
398Prostate cancerEnrichmentPIK3CA0.42
399DystoniaEnrichmentGNB10.36
400AutismEnrichmentALDH1A3, CREBBP0.33
401Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentERBB40.32
402Cerebral palsyEnrichmentGNB10.32
403Charcot-marie-tooth diseaseEnrichmentHSPB10.31
404Type 2 diabetes mellitusEnrichmentAKT20.30
405Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentABCG50.29
406HypertelorismEnrichmentPIK3CA0.24
407Rare genetic deafnessEnrichmentPOLR2F0.23
408Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.22
409Optic atrophy plus syndromeEnrichmentRDH50.21
410Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPDHA20.15
411Mitochondrial diseaseEnrichmentPDHX0.07
412Hereditary retinal dystrophyEnrichmentRDH11, RDH50.01
413Fundus dystrophyEnrichmentRDH11, RDH50.01
414Retinitis pigmentosaEnrichmentRDH50.00

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