Transcription Androgen Receptor nuclear signaling

No Pathway Network information available for Transcription Androgen Receptor nuclear signaling

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

Disorders associated with Transcription Androgen Receptor nuclear signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, FZD2, WNT5A9.18
2Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, FZD2, WNT5A9.18
3Lung non-small cell carcinomaEnrichmentEGFR, ERBB2, HRAS, MAP2K1, PIK3CA8.84
4Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, FZD2, WNT5A8.49
5HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA, PTEN8.49
6Bladder cancerEnrichmentCTNNB1, EGFR, ERBB2, HRAS, PIK3CA, PTEN8.18
7Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, FZD2, WNT5A8.01
8Ovarian cancerEnrichmentAKT1, AR, CTNNB1, EGFR, ERBB2, PIK3CA, PTEN, TSC27.34
9Adult hepatocellular carcinomaEnrichmentCTNNB1, EGF, PIK3CA, TSC27.09
10Noonan syndrome 1EnrichmentHRAS, MAP2K1, RAF1, SOS1, SOS27.00
11RasopathyEnrichmentHRAS, MAP2K1, RAF1, SOS1, SOS26.72
12Colorectal cancerEnrichmentAKT1, CTNNB1, ERBB2, FZD3, PIK3CA, PIK3R1, SRC6.52
13Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, RAF1, SOS16.07
14Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL3, FZD25.88
15Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN5.58
16Noonan syndrome 3EnrichmentHRAS, RAF1, SOS15.34
17Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA4.97
18Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.97
19Loeys-dietz syndromeEnrichmentSMAD3, TGFBR1, TGFBR24.86
20Prostate cancerEnrichmentAR, PIK3CA, PTEN, SRD5A24.85
21Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA4.81
22Robinow syndrome, autosomal dominant 3EnrichmentDVL3, FZD24.58
23MeningiomaEnrichmentAKT1, PIK3CA, PTEN4.55
24Lip and oral cavity carcinomaEnrichmentEGFR, HRAS, PIK3CA4.55
25Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.51
26Osteoporosis, juvenileEnrichmentWNT1, WNT3A4.11
27Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.11
28Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR24.03
29Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA3.81
30Focal cortical dysplasia, type iiEnrichmentMTOR, TSC23.81
31Isolated focal cortical dysplasia type iiEnrichmentMTOR, TSC23.81
32Aortic aneurysmEnrichmentSMAD3, TGFBR13.73
33Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD43.59
34Insulin-like growth factor iEnrichmentIGF1, IGF1R3.51
35Breast adenocarcinomaEnrichmentAKT1, PIK3CA3.41
36Lung squamous cell carcinomaEnrichmentEGFR, PIK3CA3.41
37Nevus, epidermalEnrichmentHRAS, PIK3CA3.27
38Thyroid cancer, nonmedullary, 2EnrichmentHRAS, PTEN3.27
39Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN3.27
40Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA3.27
41Gallbladder cancerEnrichmentCTNNB1, PIK3CA3.27
42Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.27
43Follicular thyroid carcinomaEnrichmentHRAS, PTEN3.27
44Overgrowth syndromeEnrichmentMTOR, PIK3R13.27
45Lung cancerEnrichmentEGFR, ERBB2, PIK3CA3.23
46Breast cancerEnrichmentAKT1, PIK3CA, PTEN, SHC13.22
47Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.14
48Exudative vitreoretinopathyEnrichmentCTNNB1, FZD43.14
49Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.96
50Marfan syndromeEnrichmentTGFBR1, TGFBR22.87
51Gastric cancerEnrichmentERBB2, PIK3CA, PTEN2.85
52Hereditary breast carcinomaEnrichmentAKT1, PIK3CA, PTEN2.82
53Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD3, TGFBR1, TGFBR22.72
54OsteoporosisEnrichmentSRC, WNT12.64
55Lung cancer susceptibility 3EnrichmentEGFR, ERBB22.64
56Autism spectrum disorderEnrichmentMAP2K1, PTEN, SRD5A2, TSC22.62
57RhabdomyosarcomaEnrichmentHRAS, PTEN2.52
58Arteriovenous malformations of the brainEnrichmentEGFR, IL62.30
59Ehlers-danlos syndromeEnrichmentSMAD3, TGFBR22.30
60MicrocephalyEnrichmentCTNNB1, EP300, IGF1R, MAPK12.30
61MacrodactylyEnrichmentPIK3CA2.29
62Proteus syndromeEnrichmentAKT12.29
63Paget disease, extramammaryEnrichmentERBB22.29
64Nail disorder, nonsyndromic congenital, 1EnrichmentFZD62.29
65Mullerian aplasia and hyperandrogenismEnrichmentWNT42.29
66Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.29
67Prostate cancer, hereditary, x-linked 3EnrichmentAR2.29
68Vacterl association with hydrocephalusEnrichmentPTEN2.29
69Androgen insensitivity, partialEnrichmentAR2.29
70Noonan syndrome 5EnrichmentRAF12.29
71Hypomagnesemia 4, renalEnrichmentEGF2.29
72Noonan syndrome 4EnrichmentSOS12.29
73Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.29
7446,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT42.29
75Melorheostosis, isolatedEnrichmentMAP2K12.29
76Megalencephaly, autosomal dominantEnrichmentPIK3CA2.29
77Omodysplasia 2EnrichmentFZD22.29
78Cardiomyopathy, dilated, 1nnEnrichmentRAF12.29
79Cowden syndrome 5EnrichmentPIK3CA2.29
80Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.29
81Split-hand/foot malformation 6EnrichmentWNT10B2.29
82Noonan syndrome 9EnrichmentSOS22.29
83Tooth agenesis, selective, 8EnrichmentWNT10B2.29
84Accelerated tumor formationEnrichmentMDM22.29
85Pulmonary hypertension, primary, 3EnrichmentCAV12.29
86Cerebral cavernous malformations 4EnrichmentPIK3CA2.29
87Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.29
88Noonan syndrome 13EnrichmentMAPK12.29
89Immunodeficiency 92EnrichmentREL2.29
90Lessel-kubisch syndromeEnrichmentMDM22.29
91Short syndromeEnrichmentPIK3R12.29
92Diarrhea 9EnrichmentWNT2B2.29
93Papillary tumor of the pineal regionEnrichmentPTEN2.29
94Lipodystrophy, familial partial, type 7EnrichmentCAV12.29
95Bone mineral density quantitative trait locus 16EnrichmentWNT12.29
96Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.29
97Hemifacial myohyperplasiaEnrichmentPIK3CA2.29
98Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.29
99Santos syndromeEnrichmentWNT7A2.29
100MelorheostosisEnrichmentMAP2K12.29
101Leopard syndrome 2EnrichmentRAF12.29
102Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.29
103Cowden syndrome 6EnrichmentAKT12.29
104Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.29
105Microphthalmia/coloboma 11EnrichmentFZD52.29
106Glioma susceptibility 2EnrichmentPTEN2.29
107Thrombocytopenia 6EnrichmentSRC2.29
10846,xy disorder of sex development due to 5-alpha-reductase 2 deficiencyEnrichmentSRD5A22.29
109Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.29
110Immunodeficiency 53EnrichmentRELB2.29
111TrigonitisEnrichmentRAF12.29
112Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.29
113Adenoid ameloblastomaEnrichmentCTNNB12.29
114HypospadiasEnrichmentPIK3CA2.29
115Capillary hemangiomaEnrichmentAKT32.29
116Rare venous malformationEnrichmentPIK3CA2.29
117Diaphragmatic eventrationEnrichmentPIK3CA2.29
118Complete androgen insensitivity syndromeEnrichmentAR2.29
119Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.29
120Rare combined vascular malformationEnrichmentPIK3CA2.29
121Cavernous lymphangiomaEnrichmentPIK3CA2.29
122Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.29
123Phakomatosis pigmentokeratoticaEnrichmentHRAS2.29
124Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.29
125Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.29
126Eccrine angiomatous hamartomaEnrichmentPIK3CA2.29
127Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.29
128Macrodactyly of toeEnrichmentPIK3CA2.29
129Serous carcinoma of the corpus uteriEnrichmentERBB22.29
130Microcystic stromal tumorEnrichmentCTNNB12.29
131Akt2-related familial partial lipodystrophyEnrichmentAKT22.29
132Endometrial cancerEnrichmentPIK3CA, PTEN2.29
133Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.25
134Stuve-wiedemann syndrome 2EnrichmentIL6ST2.25
135Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST2.25
136Cardioacrofacial dysplasia 2EnrichmentPRKACB2.25
137T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.25
138Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.25
139Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R2.25
140Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R2.25
141Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R2.25
142Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA2.25
143Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.25
144Cardioacrofacial dysplasia 1EnrichmentPRKACA2.25
145Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST2.25
146Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST2.25
147Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.25
148Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.25
149Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA2.25
150Tooth agenesisEnrichmentWNT10A, WNT10B2.25
151Hydrops fetalis, nonimmuneEnrichmentFZD6, HRAS2.10
152Fibromatosis, gingival, 1EnrichmentSOS11.99
153Tooth agenesis, selective, 4EnrichmentWNT10A1.99
154Costello syndromeEnrichmentHRAS1.99
155Schopf-schulz-passarge syndromeEnrichmentWNT10A1.99
156Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.99
157Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.99
158Bladder exstrophy and epispadias complexEnrichmentWNT31.99
159Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.99
160Odontoonychodermal dysplasiaEnrichmentWNT10A1.99
161Pulmonic stenosisEnrichmentSOS11.99
162Xanthinuria, type iEnrichmentSRD5A21.99
163Tetraamelia syndrome 1EnrichmentWNT31.99
164LymphangioleiomyomatosisEnrichmentTSC21.99
165Keratosis, seborrheicEnrichmentPIK3CA1.99
166Osteogenesis imperfecta, type xvEnrichmentWNT11.99
167Noonan syndrome 8EnrichmentPIK3CA1.99
168Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.99
169Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.99
170Immunodeficiency, common variable, 10EnrichmentNFKB21.99
17146,xy sex reversal 1EnrichmentAR1.99
172Androgen insensitivity syndromeEnrichmentAR1.99
173Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.99
174Cebalid syndromeEnrichmentMTOR1.99
175Hypospadias 1, x-linkedEnrichmentAR1.99
176Childhood hepatocellular carcinomaEnrichmentCTNNB11.99
177Rela fusion-positive ependymomaEnrichmentRELA1.99
178Senior-loken syndrome 7EnrichmentAKT31.99
179Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.99
180Bardet-biedl syndrome 16EnrichmentAKT31.99
181Smith-kingsmore syndromeEnrichmentMTOR1.99
182Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.99
183Vacterl with hydrocephalusEnrichmentPTEN1.99
184Posterior hypospadiasEnrichmentAR1.99
185TeratomaEnrichmentCTNNB11.99
186Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.99
187Common variable immunodeficiency 12EnrichmentNFKB11.99
188Juvenile polyposis of infancyEnrichmentPTEN1.99
189Wooly hair nevusEnrichmentHRAS1.99
190Non-immune hydrops fetalisEnrichmentFZD6, HRAS1.96
191Camurati-engelmann disease 1EnrichmentTGFB11.95
192Microvascular complications of diabetes 5EnrichmentTGFBR21.95
193Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.95
194Loeys-dietz syndrome 3EnrichmentSMAD31.95
195Menke-hennekam syndrome 2EnrichmentEP3001.95
196Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.95
197Camurati-engelmann diseaseEnrichmentTGFB11.95
198Fibrolamellar carcinomaEnrichmentPRKACA1.95
199Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.95
200Connective tissue diseaseEnrichmentSMAD3, TGFBR21.86
201Desmoid disease, hereditaryEnrichmentCTNNB11.81
202Pompe disease, infantile-onsetEnrichmentPIK3CA1.81
203Tuberous sclerosis 1EnrichmentTSC21.81
204Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.81
205Microphthalmia, syndromic 9EnrichmentWNT7B1.81
206Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.81
207Tooth agenesis, selective, 2EnrichmentWNT10A1.81
208Nuchal bleb, familialEnrichmentSOS11.81
209Langerhans cell histiocytosisEnrichmentMAP2K11.81
210Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.81
211Tuberous sclerosis 2EnrichmentTSC21.81
212Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.81
213Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.81
214Anus, imperforateEnrichmentCTNNB11.81
215Exudative vitreoretinopathy 7EnrichmentCTNNB11.81
216Large congenital melanocytic nevusEnrichmentHRAS1.81
217Desmoid tumorEnrichmentCTNNB11.81
218Dedifferentiated liposarcomaEnrichmentMDM21.81
219HamartomaEnrichmentTSC21.81
220Nail diseaseEnrichmentFZD61.81
221Xanthinuria, type iiEnrichmentTSC21.81
222Immunodeficiency 14EnrichmentPIK3R11.81
223Laryngeal squamous cell carcinomaEnrichmentPTEN1.81
224SpermatocytomaEnrichmentHRAS1.81
225Tetraamelia syndromeEnrichmentWNT31.81
226Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.81
227Well-differentiated liposarcomaEnrichmentMDM21.81
228KeratoacanthomaEnrichmentPIK3CA1.81
229Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.78
230Stuve-wiedemann syndrome 1EnrichmentIL6ST1.78
231Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.78
232Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.78
233Hyper ige syndromeEnrichmentSTAT31.78
234Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.78
235Stüve-wiedemann syndromeEnrichmentIL6ST1.78
236Congenital nervous system abnormalityEnrichmentCTNNB1, PTEN, TSC21.76
237Nervous system diseaseEnrichmentCTNNB1, PTEN, TSC21.76
238Type 2 diabetes mellitusEnrichmentAKT2, IRS11.70
239Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.69
240Cardiofaciocutaneous syndrome 1EnrichmentMAP2K11.69
241Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.69
242Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.69
243Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.69
244Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.69
245Immunodeficiency, common variable, 1EnrichmentNFKB21.69
246PilomatrixomaEnrichmentCTNNB11.69
247Barrett esophagusEnrichmentERBB21.69
248Alazami syndromeEnrichmentCTNNB11.69
249Cardiofaciocutaneous syndromeEnrichmentMAP2K11.69
250Ectodermal dysplasiaEnrichmentWNT10A1.69
251Retinopathy of prematurityEnrichmentFZD41.69
252Tuberous sclerosisEnrichmentTSC21.69
253Cerebrovascular diseaseEnrichmentPIK3CA1.69
254CraniopharyngiomaEnrichmentCTNNB11.69
255Noonan syndrome with multiple lentiginesEnrichmentRAF11.69
256Epidermolytic nevusEnrichmentHRAS1.69
257Familial cerebral cavernous malformationsEnrichmentPIK3CA1.69
258Eyelid colobomaEnrichmentFZD51.69
259GliomaEnrichmentPTEN1.69
260Gingival fibromatosisEnrichmentSOS11.69
261Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.69
262Lens colobomaEnrichmentFZD51.69
263Kaposi sarcomaEnrichmentIL61.65
264Mantle cell lymphomaEnrichmentCCND11.65
265Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.65
266Capillary malformations, congenitalEnrichmentPIK3CA1.59
267Pseudovaginal perineoscrotal hypospadiasEnrichmentSRD5A21.59
268Norrie diseaseEnrichmentFZD41.59
269Macrocephaly/autism syndromeEnrichmentPTEN1.59
270HemangiomaEnrichmentPTEN1.59
271Persistent hyperplastic primary vitreousEnrichmentFZD41.59
272Acute megakaryocytic leukemiaEnrichmentPTEN1.59
273Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.59
274Coloboma of choroid and retinaEnrichmentFZD51.59
275Diffuse cutaneous systemic sclerosisEnrichmentCAV11.59
276Von hippel-lindau syndromeEnrichmentCCND11.56
277Rheumatoid arthritis, systemic juvenileEnrichmentIL61.56
278Mosaic variegated aneuploidy syndrome 1EnrichmentPAK61.56
279Rubinstein-taybi syndrome 2EnrichmentEP3001.56
280Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.51
281Li-fraumeni syndromeEnrichmentMDM21.51
282Coloboma of optic nerveEnrichmentFZD51.51
283Weyers acrofacial dysostosisEnrichmentCTNNB11.51
284Hemihyperplasia, isolatedEnrichmentPIK3CA1.51
285Renal dysplasia, cysticEnrichmentWNT9B1.51
286Renal hypoplasiaEnrichmentWNT9B1.51
287DiarrheaEnrichmentWNT2B1.51
288Adrenocortical carcinomaEnrichmentCTNNB11.51
289Limited sclerodermaEnrichmentCAV11.51
290Multicystic kidney dysplasiaEnrichmentFZD31.51
291Multicystic dysplastic kidneyEnrichmentFZD31.51
292Inherited cancer-predisposing syndromeEnrichmentEGFR, PTEN, TSC21.51
293Rubinstein-taybi syndrome 1EnrichmentEP3001.48
294Type 1 diabetes mellitusEnrichmentIL61.48
295Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3001.48
296Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.48
297Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.48
298Classic ehlers-danlos syndromeEnrichmentTGFBR11.48
299Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.45
300MyelofibrosisEnrichmentSRC1.45
301Coats diseaseEnrichmentFZD41.45
302Renal cell carcinoma, papillary, 1EnrichmentMTOR1.45
303Polycystic kidney disease 1EnrichmentTSC21.45
304Pilomyxoid astrocytomaEnrichmentRAF11.45
305MegacolonEnrichmentAKT31.45
306Esophageal cancerEnrichmentTGFBR21.41
307Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.41
308Glioma susceptibility 1EnrichmentERBB21.39
309Renal hypodysplasia/aplasia 1EnrichmentWNT9B1.39
310Isolated split hand-split foot malformationEnrichmentWNT10B1.39
311Difference of sex developmentEnrichmentAR1.39
312Mosaic variegated aneuploidy syndromeEnrichmentPAK61.36
313Permanent neonatal diabetes mellitusEnrichmentSTAT31.36
314Renal agenesis, bilateralEnrichmentWNT9B1.34
315Charge syndromeEnrichmentEP3001.31
316Inflammatory bowel disease 1EnrichmentIL61.31
317Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.31
318Cat eye syndromeEnrichmentFZD51.30
319Ciliary dyskinesia, primary, 3EnrichmentNFKB11.30
320PolymicrogyriaEnrichmentAKT31.30
321MelanomaEnrichmentPTEN1.30
322Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.30
323Leukemia, chronic lymphocyticEnrichmentCCND11.26
324Meningioma, familialEnrichmentPTEN1.26
32546,xy complete gonadal dysgenesisEnrichmentAR1.26
326Uterine corpus cancerEnrichmentPTEN1.26
327Heritable pulmonary arterial hypertensionEnrichmentCAV11.26
328Specific learning disabilityEnrichmentMAPK11.26
329Pectus excavatumEnrichmentTGFBR11.22
330Aortic valve disease 1EnrichmentSOS11.19
331Microphthalmia/coloboma 12EnrichmentFZD51.19
332Osteogenesis imperfecta, type ivEnrichmentWNT11.19
333Chronic kidney diseaseEnrichmentWNT9B1.19
334MedulloblastomaEnrichmentCTNNB11.16
33546,xy partial gonadal dysgenesisEnrichmentSOS11.16
336Neural tube defectsEnrichmentRAD9B1.15
337Acute promyelocytic leukemiaEnrichmentSTAT31.15
338Nk-cell enteropathyEnrichmentIGF1R1.15
339Coloboma of maculaEnrichmentFZD51.13
340Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.13
341Osteogenesis imperfecta, type iiiEnrichmentWNT11.13
342HydrocephalusEnrichmentFZD31.13
343Lynch syndromeEnrichmentPIK3CA1.13
344Autosomal dominant polycystic kidney diseaseEnrichmentTSC21.13
345Rare genetic intellectual disabilityEnrichmentMTOR1.13
346Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.12
347GliosarcomaEnrichmentEGFR1.10
348Polydactyly, postaxial, type a1EnrichmentEP3001.09
349Polycystic liver diseaseEnrichmentCTNNB11.07
350Giant cell glioblastomaEnrichmentEGFR1.07
351Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.07
352Heart, malformation ofEnrichmentMAPK11.05
353Diffuse large b-cell lymphomaEnrichmentPTEN1.03
354Macs syndromeEnrichmentWNT7B1.01
355HepatoblastomaEnrichmentCTNNB10.99
356MicrophthalmiaEnrichmentWNT7B0.97
357Brittle bone disorderEnrichmentWNT10.95
358Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.93
359Hirschsprung disease 1EnrichmentERBB20.86
360Differentiated thyroid carcinomaEnrichmentHRAS0.86
361Familial hypertrophic cardiomyopathyEnrichmentRAF10.80
362Male infertilityEnrichmentAR0.79
363Cystic fibrosisEnrichmentTGFB10.78
364Left ventricular noncompactionEnrichmentRAF10.78
365Distal arthrogryposisEnrichmentFZD30.71
366West syndromeEnrichmentTSC20.69
367ThrombocytopeniaEnrichmentSRC0.66
368HypertelorismEnrichmentPIK3CA0.63
369Familial isolated dilated cardiomyopathyEnrichmentRAF10.62
370Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.61
371Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR0.60
372Myeloma, multipleEnrichmentCCND10.57
373Autosomal recessive non-syndromic intellectual disabilityEnrichmentEZR0.56
374Dilated cardiomyopathyEnrichmentRAF10.47
375Hereditary retinal dystrophyEnrichmentFZD40.11
376Fundus dystrophyEnrichmentFZD40.11

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