Androgen receptor network in prostate cancer

Pathway network for the Androgen receptor network in prostate cancer SuperPath

Sources:
  • WikiPathways

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

Disorders associated with Androgen receptor network in prostate cancer SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Breast cancerEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, CASP8, CHEK2, CYP17A1, JUN, MRE11, MSH2, MSH6, PIK3CA, PTEN, RAD50, TP5316.00
2Ovarian cancerEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, CHEK2, MRE11, MSH2, MSH6, PTEN, RAD50, RB1, TP5316.00
3Hereditary breast carcinomaEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, CHEK2, MSH2, MSH6, PTEN, RAD50, TP5316.00
4Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BLM, BRCA1, CHEK2, MRE11, MSH2, MSH6, PTEN, RAD50, TP5311.69
5Colorectal cancerEnrichmentAKT1, ATM, BAX, BLM, BRCA1, CHEK2, MSH2, MSH6, TP5311.55
6Endometrial cancerEnrichmentATM, BARD1, BLM, BRCA1, CHEK2, MSH2, MSH6, PIK3CA, PTEN11.47
7Gastric cancerEnrichmentATM, BARD1, BRCA1, CDK4, CHEK2, MSH2, MSH6, PTEN, TP5311.45
8Uterine corpus cancerEnrichmentATM, BRCA1, CHEK2, MSH2, MSH6, PTEN11.00
9Inherited cancer-predisposing syndromeEnrichmentATM, BARD1, BLM, BRCA1, CDK4, CHEK2, MRE11, MSH2, MSH6, PTEN, RAD50, RB1, TP5310.67
10Bladder cancerEnrichmentARID1A, ATM, BRCA1, HRAS, PIK3CA, PTEN, RB1, TP53, TSC110.65
11Prostate cancerEnrichmentAR, ATM, BRCA1, CHEK2, MSH6, PIK3CA, PTEN, TP5310.23
12RhabdomyosarcomaEnrichmentBRCA1, MSH2, MSH6, PTEN, TP539.23
13Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS19.05
14Adult hepatocellular carcinomaEnrichmentCASP8, PIK3CA, TP53, TSC1, TSC28.50
15Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC28.47
16Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC28.47
17Lynch syndrome 1EnrichmentATM, CHEK2, MSH2, MSH67.96
18HemimegalencephalyEnrichmentMTOR, PIK3CA, PTEN, RHEB7.77
19Noonan syndrome 1EnrichmentHRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS17.77
20Osteogenic sarcomaEnrichmentCHEK2, RB1, TP537.69
21Bone osteosarcomaEnrichmentCHEK2, RB1, TP537.69
22Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, CHEK2, MSH27.43
23RasopathyEnrichmentHRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS17.42
24Coffin-siris syndrome 1EnrichmentARID1A, ARID1B, SMARCA4, SMARCC2, SMARCD17.15
25Lynch syndrome 4EnrichmentMSH2, MSH6, RB17.09
26Noonan syndrome 3EnrichmentHRAS, PTPN11, RAF1, SOS16.93
27Li-fraumeni syndromeEnrichmentCHEK2, MDM2, TP536.39
28Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA, RASA16.38
29Pancreatic cancerEnrichmentATM, BRCA1, CHEK2, TP536.20
30Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA, RASA16.16
31Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA, RB1, TP535.80
32Colonic benign neoplasmEnrichmentATM, CHEK2, MRE115.77
33Lynch syndromeEnrichmentCHEK2, MSH2, MSH6, PIK3CA5.36
34Li-fraumeni syndrome 1EnrichmentCHEK2, TP535.12
35SarcomaEnrichmentCHEK2, TP535.12
36Breast adenocarcinomaEnrichmentAKT1, PIK3CA, TP535.05
37GliosarcomaEnrichmentATM, MSH2, TP534.96
38Diffuse large b-cell lymphomaEnrichmentCHEK2, PTEN, STAT3, TP534.92
39Giant cell glioblastomaEnrichmentATM, MSH2, TP534.87
40Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA, RASA14.81
41Hepatocellular carcinomaEnrichmentCASP8, PIK3CA, RAD50, TP534.65
42High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC4.64
43Dedifferentiated liposarcomaEnrichmentCDK4, MDM24.64
44Squamous cell carcinomaEnrichmentRB1, TP534.64
45AdenocarcinomaEnrichmentATM, TP534.64
46Well-differentiated liposarcomaEnrichmentCDK4, MDM24.64
47HepatoblastomaEnrichmentBARD1, MSH2, TP534.58
48Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.44
49Lipoid congenital adrenal hyperplasiaEnrichmentCYP17A1, HSD3B24.35
50Small cell cancer of the lungEnrichmentRB1, TP534.34
51Mismatch repair cancer syndrome 1EnrichmentMSH2, MSH64.34
52Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD504.34
53Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP534.28
54LymphangioleiomyomatosisEnrichmentTSC1, TSC24.23
55Hypospadias 1, x-linkedEnrichmentAR, HSD3B24.23
56Lung non-small cell carcinomaEnrichmentHRAS, MAP2K1, PIK3CA4.15
57GlioblastomaEnrichmentATM, MSH24.12
58Acute megakaryocytic leukemiaEnrichmentPTEN, TP534.12
59MeningiomaEnrichmentAKT1, PIK3CA, PTEN4.03
60Lung cancerEnrichmentBRCA1, CASP8, CHEK24.02
61Squamous cell carcinoma, head and neckEnrichmentPTEN, TP533.80
62Tuberous sclerosis 1EnrichmentTSC1, TSC23.75
63Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, STAT33.75
64HamartomaEnrichmentTSC1, TSC23.75
65Autism spectrum disorderEnrichmentACTL6B, ARID1B, MAP2K1, PTEN, PTPN11, TSC23.70
66Loeys-dietz syndromeEnrichmentSMAD2, SMAD33.57
67MelanomaEnrichmentCHEK2, PTEN3.47
68Familial colorectal cancerEnrichmentMSH2, TP533.47
69Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K23.45
70Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK13.45
71Mantle cell lymphomaEnrichmentATM, CCND13.45
72Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K23.45
73Tuberous sclerosisEnrichmentTSC1, TSC23.45
74Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF13.45
75Familial colorectal cancer type xEnrichmentATM, CHEK23.38
76Myeloma, multipleEnrichmentATM, BARD1, TP533.29
77Capillary malformations, congenitalEnrichmentPIK3CA, RASA13.23
78LymphomaEnrichmentPTPN11, TP533.23
79Lung cancer susceptibility 3EnrichmentRB1, TP533.17
80Carboxypeptidase n deficiencyEnrichmentCPN13.13
81Factor xiii, b subunit, deficiency ofEnrichmentF13B3.13
82Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA13.06
83Cowden syndrome 1EnrichmentPIK3CA, PTEN3.06
84Hydrops fetalis, nonimmuneEnrichmentARID1A, HRAS, PTPN112.99
85Nevus, epidermalEnrichmentHRAS, PIK3CA2.92
86Thyroid cancer, nonmedullary, 2EnrichmentHRAS, PTEN2.92
87Renal cell carcinoma, papillary, 1EnrichmentATM, MTOR2.92
88Gallbladder cancerEnrichmentPIK3CA, TP532.92
89Follicular thyroid carcinomaEnrichmentHRAS, PTEN2.92
90Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiencyEnrichmentHSD3B22.83
91Cholesteatoma, congenitalEnrichmentF13B2.83
9217-beta hydroxysteroid dehydrogenase iii deficiencyEnrichmentHSD17B32.83
933 beta-hydroxysteroid dehydrogenase deficiencyEnrichmentHSD3B22.83
94CholesteatomaEnrichmentF13B2.83
95Factor xiii deficiencyEnrichmentF13B2.83
96Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF12.79
97Ewing sarcomaEnrichmentERG, ETV42.79
98Difference of sex developmentEnrichmentAR, HSD17B32.79
99Non-immune hydrops fetalisEnrichmentARID1A, HRAS, PTPN112.76
100Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiencyEnrichmentCYP17A12.66
101D-bifunctional protein deficiencyEnrichmentHSD17B42.66
102Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.55
103Proteus syndromeEnrichmentAKT12.55
104Bloom syndromeEnrichmentBLM2.55
105Vacterl association with hydrocephalusEnrichmentPTEN2.55
106Caspase 8 deficiencyEnrichmentCASP82.55
107Melanoma, cutaneous malignant 3EnrichmentCDK42.55
108Seckel syndrome 1EnrichmentATR2.55
109Accelerated tumor formationEnrichmentMDM22.55
110Lessel-kubisch syndromeEnrichmentMDM22.55
111Bone marrow failure syndrome 5EnrichmentTP532.55
112Papilloma of choroid plexusEnrichmentTP532.55
113Basal cell carcinoma 7EnrichmentTP532.55
114Anaplastic thyroid carcinomaEnrichmentTP532.55
115Infant-type hemispheric gliomaEnrichmentBRCA12.55
116Papillary tumor of the pineal regionEnrichmentPTEN2.55
117Tumor predisposition syndrome 4EnrichmentCHEK22.55
118Ataxia-telangiectasia-like disorder 1EnrichmentMRE112.55
119Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR2.55
120Immunodeficiency 31aEnrichmentSTAT12.55
121Cowden syndrome 6EnrichmentAKT12.55
122Loeys-dietz syndrome 6EnrichmentSMAD22.55
123Endometrial serous adenocarcinomaEnrichmentATM2.55
124Immunodeficiency 31bEnrichmentSTAT12.55
125Glioma susceptibility 2EnrichmentPTEN2.55
126Ductal carcinoma in situEnrichmentTP532.55
127Mismatch repair cancer syndrome 2EnrichmentMSH22.55
128LeiomyosarcomaEnrichmentCHEK22.55
129Rectal benign neoplasmEnrichmentMSH22.55
130Thyroid gland undifferentiated carcinomaEnrichmentTP532.55
131Trilateral retinoblastomaEnrichmentRB12.55
132Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.55
133Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.55
134Ascending colon cancerEnrichmentMSH22.55
135Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.55
136Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK12.55
137B-cell non-hodgkin lymphomaEnrichmentATM2.55
138Choroid plexus cancerEnrichmentTP532.55
139Ovarian cystEnrichmentMSH22.55
140Pleomorphic xanthoastrocytomaEnrichmentTP532.55
141Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR2.55
142Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.55
143Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.55
144Primary peritoneal carcinomaEnrichmentBRCA12.55
145Lung oat cell carcinomaEnrichmentRB12.55
146Atrial heart septal defectEnrichmentACTL6A, SMARCA42.51
147Interatrial communicationEnrichmentACTL6A, SMARCA42.51
148Specific learning disabilityEnrichmentMAPK1, PTPN112.51
149PseudohermaphroditismEnrichmentHSD17B32.43
150Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyEnrichmentCYP17A12.35
15121-hydroxylase-deficient congenital adrenal hyperplasiaEnrichmentCYP17A12.35
152Thrombophilia due to thrombin defectEnrichmentF13B2.29
153Burkitt lymphomaEnrichmentMYC2.25
154Muir-torre syndromeEnrichmentMSH22.25
155Adrenocortical carcinoma, hereditaryEnrichmentTP532.25
156Cervical cancerEnrichmentTP532.25
157Chromosome 13q14 deletion syndromeEnrichmentRB12.25
158Lymphoma, hodgkin, classicEnrichmentTP532.25
159Loeys-dietz syndrome 3EnrichmentSMAD32.25
160Immunodeficiency 31cEnrichmentSTAT12.25
161Congenital heart defects, multiple types, 3EnrichmentCHEK22.25
162Fanconi anemia, complementation group sEnrichmentBRCA12.25
163Cardiac valvular dysplasia, x-linkedEnrichmentATM2.25
164Intravascular large b-cell lymphomaEnrichmentBCL22.25
165Pancreatic cancer 4EnrichmentBRCA12.25
166Recessive dystrophic epidermolysis bullosaEnrichmentMMP12.25
167Congenital fibrosarcomaEnrichmentTP532.25
168High grade gliomaEnrichmentATM2.25
169Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.25
170Cervix carcinomaEnrichmentTP532.25
171Hodgkin's lymphomaEnrichmentTP532.25
172T-cell prolymphocytic leukemiaEnrichmentATM2.25
173Inflammatory breast carcinomaEnrichmentBRCA12.25
174Mismatch repair cancer syndrome 3EnrichmentMSH62.25
175Peritoneum cancerEnrichmentBRCA12.25
176Bilateral breast cancerEnrichmentBRCA12.25
177Vacterl with hydrocephalusEnrichmentPTEN2.25
178Familial retinoblastomaEnrichmentRB12.25
179Juvenile polyposis of infancyEnrichmentPTEN2.25
180Pleomorphic rhabdomyosarcomaEnrichmentTP532.25
181Renal cell carcinoma, nonpapillaryEnrichmentATM, MTOR2.23
182Rare genetic intellectual disabilityEnrichmentARID1B, MTOR2.23
183Perrault syndromeEnrichmentHSD17B42.23
184Perrault syndrome 2EnrichmentHSD17B42.18
185Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, ARID1B2.18
186Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD32.17
187MacrodactylyEnrichmentPIK3CA2.11
188MetachondromatosisEnrichmentPTPN112.11
189Cystic angiomatosis of bone, diffuseEnrichmentRASA12.11
190TorticollisEnrichmentACTL6A2.11
191Prostate cancer, hereditary, x-linked 3EnrichmentAR2.11
192Androgen insensitivity, partialEnrichmentAR2.11
193Deafness, autosomal recessive 26EnrichmentGAB12.11
194Noonan syndrome 5EnrichmentRAF12.11
195Noonan syndrome 4EnrichmentSOS12.11
196Deafness, autosomal recessive 39EnrichmentHGF2.11
197Melorheostosis, isolatedEnrichmentMAP2K12.11
198Megalencephaly, autosomal dominantEnrichmentPIK3CA2.11
199Leopard syndrome 1EnrichmentPTPN112.11
200Cardiomyopathy, dilated, 1nnEnrichmentRAF12.11
201Cowden syndrome 5EnrichmentPIK3CA2.11
202Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.11
203Iga nephropathy 3EnrichmentSPRY22.11
204Intellectual developmental disorder with severe speech and ambulation defectsEnrichmentACTL6B2.11
205Cerebral cavernous malformations 4EnrichmentPIK3CA2.11
206Coffin-siris syndrome 11EnrichmentSMARCD12.11
207Noonan syndrome 13EnrichmentMAPK12.11
208Hydrocephalus, congenital, 5EnrichmentSMARCC12.11
209Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.11
210T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.11
211Hemifacial myohyperplasiaEnrichmentPIK3CA2.11
212Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.11
213MelorheostosisEnrichmentMAP2K12.11
214Leopard syndrome 2EnrichmentRAF12.11
215Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC2.11
216Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.11
217Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B2.11
218Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.11
219Arid1b-related disorderEnrichmentARID1B2.11
220Ovarian small cell carcinomaEnrichmentSMARCA42.11
221Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.11
222TrigonitisEnrichmentRAF12.11
223Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.11
224Lymphatic malformation 14EnrichmentERG2.11
225HypospadiasEnrichmentPIK3CA2.11
226Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.11
227Rare venous malformationEnrichmentPIK3CA2.11
228Gorham's diseaseEnrichmentRASA12.11
229Diaphragmatic eventrationEnrichmentPIK3CA2.11
230Autosomal recessive severe congenital neutropeniaEnrichmentSMARCD22.11
231Complete androgen insensitivity syndromeEnrichmentAR2.11
232Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.11
233Rare combined vascular malformationEnrichmentPIK3CA2.11
234Cavernous lymphangiomaEnrichmentPIK3CA2.11
235Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.11
236Phakomatosis pigmentokeratoticaEnrichmentHRAS2.11
237Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.11
238Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.11
239Eccrine angiomatous hamartomaEnrichmentPIK3CA2.11
240Macrodactyly of toeEnrichmentPIK3CA2.11
241Temporomandibular joint anomalyEnrichmentDOCK12.11
242Malignant astrocytomaEnrichmentPTPN112.11
243Epilepsy, myoclonic juvenileEnrichmentHSD17B32.09
244RetinoblastomaEnrichmentRB12.08
245Ataxia-telangiectasiaEnrichmentATM2.08
246Polycythemia veraEnrichmentATM2.08
247Nasopharyngeal carcinomaEnrichmentTP532.08
248Woolly hair, autosomal recessive 3EnrichmentRB12.08
249Lynch syndrome 5EnrichmentMSH62.08
250Hypotrichosis 8EnrichmentRB12.08
251Koolen-de vries syndromeEnrichmentATM2.08
252Loeys-dietz syndrome 1EnrichmentSMAD22.08
253Atypical teratoid rhabdoid tumorEnrichmentTP532.08
254Anaplastic astrocytomaEnrichmentTP532.08
255Cellular ependymomaEnrichmentMSH22.08
256Tanycytic ependymomaEnrichmentMSH22.08
257Papillary ependymomaEnrichmentMSH22.08
258T-cell acute lymphoblastic leukemiaEnrichmentBAX2.08
259Laryngeal squamous cell carcinomaEnrichmentPTEN2.08
260Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentMSH62.08
261Colon adenocarcinomaEnrichmentMSH62.08
262Melanoma of soft tissueEnrichmentATF12.08
263Clear cell ependymomaEnrichmentMSH22.08
264Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE111.95
265Gaucher disease, type iEnrichmentMSH61.95
266Thyroid cancer, nonmedullary, 1EnrichmentTP531.95
267Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA11.95
268CholangiocarcinomaEnrichmentBRCA11.95
269Lung sarcomatoid carcinomaEnrichmentTP531.95
270Embryonal rhabdomyosarcomaEnrichmentTP531.95
271Aortic aneurysmEnrichmentSMAD31.95
272Hemoglobin c diseaseEnrichmentCHEK21.95
273GliomaEnrichmentPTEN1.95
274Benign ependymomaEnrichmentMSH21.95
275Oculomotor apraxiaEnrichmentATM1.95
276Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK11.95
277Perrault syndrome 1EnrichmentHSD17B41.93
278Rhabdomyosarcoma 2EnrichmentTP531.86
279Macrocephaly/autism syndromeEnrichmentPTEN1.86
280Breast-ovarian cancer, familial 2EnrichmentBRCA11.86
281Follicular lymphomaEnrichmentBCL21.86
282HemangiomaEnrichmentPTEN1.86
283MicrocephalyEnrichmentARID1A, ARID1B, MAPK1, PTPN111.82
284Fibromatosis, gingival, 1EnrichmentSOS11.81
285Alopecia, androgenetic, 1EnrichmentSMARCD11.81
286Costello syndromeEnrichmentHRAS1.81
287TrichomegalyEnrichmentARID1B1.81
288Specific granule deficiency 1EnrichmentSMARCD21.81
289Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.81
290Pulmonic stenosisEnrichmentSOS11.81
291Tropical calcific pancreatitisEnrichmentSPINK11.81
292Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.81
293Keratosis, seborrheicEnrichmentPIK3CA1.81
294Chromosome 6q24-q25 deletion syndromeEnrichmentARID1B1.81
295Noonan syndrome 8EnrichmentPIK3CA1.81
296Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG11.81
297Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentARID1B1.81
298Specific granule deficiency 2EnrichmentSMARCD21.81
299Coffin-siris syndrome 8EnrichmentSMARCC21.81
30046,xy sex reversal 1EnrichmentAR1.81
301Werner syndromeEnrichmentPTPN111.81
302Androgen insensitivity syndromeEnrichmentAR1.81
303Cebalid syndromeEnrichmentMTOR1.81
304Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.81
305Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.81
306Otosclerosis 12EnrichmentSMARCA41.81
307Coffin-siris syndrome 4EnrichmentSMARCA41.81
308Smith-kingsmore syndromeEnrichmentMTOR1.81
309Charcot-marie-tooth disease type 4dEnrichmentNDRG11.81
310Developmental and epileptic encephalopathy 76EnrichmentACTL6B1.81
311Posterior hypospadiasEnrichmentAR1.81
312Tafro syndromeEnrichmentMAP2K21.81
313Specific granule deficiencyEnrichmentSMARCD21.81
314Wooly hair nevusEnrichmentHRAS1.81
315Wilms tumor 5EnrichmentCHEK21.78
316Adrenocortical carcinomaEnrichmentTP531.78
317Clear cell renal cell carcinomaEnrichmentATM1.78
318Chronic mucocutaneous candidiasisEnrichmentSTAT11.78
319Esophageal cancerEnrichmentTP531.71
320Essential thrombocythemiaEnrichmentTP531.71
321B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.71
322Severe covid-19EnrichmentF13B1.67
323Glioma susceptibility 1EnrichmentTP531.65
324Lymphoma, non-hodgkin, familialEnrichmentTP531.65
325Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.64
326Pompe disease, infantile-onsetEnrichmentPIK3CA1.64
327Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.64
328Nuchal bleb, familialEnrichmentSOS11.64
329Langerhans cell histiocytosisEnrichmentMAP2K11.64
330Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA1.64
331Tuberous sclerosis 2EnrichmentTSC21.64
332Nail disorder, nonsyndromic congenital, 9EnrichmentARID1B1.64
333Large congenital melanocytic nevusEnrichmentHRAS1.64
334Coffin-siris syndrome 2EnrichmentARID1A1.64
335Umbilical herniaEnrichmentACTL6A1.64
336Hyper ige syndromeEnrichmentSTAT31.64
337Wieacker-wolff syndromeEnrichmentRASA11.64
338Xanthinuria, type iiEnrichmentTSC21.64
339Periventricular leukomalaciaEnrichmentARID1A1.64
340SpermatocytomaEnrichmentHRAS1.64
341Tricuspid valve insufficiencyEnrichmentPTPN111.64
342KeratoacanthomaEnrichmentPIK3CA1.64
343Primary hyperaldosteronismEnrichmentTP531.60
344Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.60
345Immune deficiency diseaseEnrichmentATM1.52
346Meningioma, familialEnrichmentPTEN1.52
347Myelodysplastic syndromeEnrichmentTP531.52
348Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.51
349Nicolaides-baraitser syndromeEnrichmentARID1B1.51
350Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.51
351Lipodystrophy, congenital generalized, type 2EnrichmentACTL6B1.51
352Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.51
353Congenital generalized lipodystrophyEnrichmentFOS1.51
354BlepharophimosisEnrichmentARID1B1.51
355Cerebrovascular diseaseEnrichmentPIK3CA1.51
356Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN111.51
357Epidermolytic nevusEnrichmentHRAS1.51
358Familial cerebral cavernous malformationsEnrichmentPIK3CA1.51
359Smarca2-related nicolaides-baraitser syndromeEnrichmentARID1B1.51
360Gingival fibromatosisEnrichmentSOS11.51
361Nk-cell enteropathyEnrichmentCHEK21.45
362Von hippel-lindau syndromeEnrichmentCCND11.42
363Histiocytoid hemangiomaEnrichmentFOS1.42
364Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.41
365Periventricular nodular heterotopiaEnrichmentBRCA11.41
366Seckel syndromeEnrichmentATR1.41
367Wilms tumor 1EnrichmentCHEK21.38
368Primary ovarian insufficiencyEnrichmentCYP17A11.37
369Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.34
370Hemihyperplasia, isolatedEnrichmentPIK3CA1.34
371Hemangioma, capillary infantileEnrichmentRASA11.34
372Wiedemann-steiner syndromeEnrichmentARID1B1.34
373Basal cell carcinoma 1EnrichmentRASA11.34
374Inguinal herniaEnrichmentACTL6A1.34
375KeratoconusEnrichmentTSC11.34
376Patent ductus arteriosusEnrichmentPTPN111.34
377Lung squamous cell carcinomaEnrichmentPIK3CA1.34
378HypertrichosisEnrichmentARID1B1.34
379Melanoma, cutaneous malignant 1EnrichmentCDK41.33
380Polycystic liver diseaseEnrichmentCDC25A1.33
381Autosomal dominant polycystic liver diseaseEnrichmentCDC25A1.33
382Congenital nervous system abnormalityEnrichmentHSD17B4, PTEN, TSC21.31
383Nervous system diseaseEnrichmentHSD17B4, PTEN, TSC21.31
384Ehlers-danlos syndromeEnrichmentSMAD31.28
385Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.28
386Polycystic kidney disease 1EnrichmentTSC21.28
387Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.28
388Pilomyxoid astrocytomaEnrichmentRAF11.28
389Congenital hydrocephalusEnrichmentSMARCC11.28
390Overgrowth syndromeEnrichmentMTOR1.28
391Rare genetic deafnessEnrichmentHSD17B41.25
392Gastroesophageal refluxEnrichmentACTL6A1.22
393NeuroblastomaEnrichmentSMARCA41.22
394Permanent neonatal diabetes mellitusEnrichmentSTAT31.22
395Diamond-blackfan anemia 1EnrichmentTP531.20
396Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC1.20
397Neurofibromatosis, type iEnrichmentERG1.17
398Ventricular septal defectEnrichmentSMARCA41.17
399Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR, PTPN111.16
400Pectus excavatumEnrichmentPTPN111.09
40146,xy complete gonadal dysgenesisEnrichmentAR1.09
402Diabetes mellitusEnrichmentSPINK11.09
403Connective tissue diseaseEnrichmentSMAD31.07
404EpicanthusEnrichmentPTPN111.05
405Septooptic dysplasiaEnrichmentARID1A1.05
406Juvenile myelomonocytic leukemiaEnrichmentPTPN111.05
407Congenital long qt syndromeEnrichmentPTPN111.05
408Fanconi anemia, complementation group aEnrichmentBRCA11.03
409Aortic valve disease 1EnrichmentSOS11.02
410Hypercholesterolemia, familial, 1EnrichmentSMARCA41.02
411Acute promyelocytic leukemiaEnrichmentSTAT31.02
412Diamond-blackfan anemiaEnrichmentTP531.02
413Hereditary chronic pancreatitisEnrichmentSPINK10.99
41446,xy partial gonadal dysgenesisEnrichmentSOS10.99
415Leukemia, acute myeloidEnrichmentTP530.97
416Corpus callosum, agenesis ofEnrichmentARID1B0.96
417Familial hypercholesterolemiaEnrichmentSMARCA40.96
418Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.96
419Kidney diseaseEnrichmentTSC10.96
420Isolated corpus callosum agenesisEnrichmentARID1B0.96
421Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentARID1B0.96
422Pancreatitis, hereditaryEnrichmentSPINK10.91
423Cleft palate, isolatedEnrichmentSMARCA40.91
424Heart, malformation ofEnrichmentMAPK10.88
425Charcot-marie-tooth disease type 4EnrichmentNDRG10.88
426Patent foramen ovaleEnrichmentPTPN110.88
427Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.77
428ScoliosisEnrichmentPTPN110.77
429StrabismusEnrichmentPTPN110.72
430Differentiated thyroid carcinomaEnrichmentHRAS0.69
431Long qt syndrome 1EnrichmentPTPN110.68
432Familial hypertrophic cardiomyopathyEnrichmentRAF10.65
433Male infertilityEnrichmentAR0.63
434CakutEnrichmentETV40.63
435Left ventricular noncompactionEnrichmentRAF10.62
436Complex neurodevelopmental disorderEnrichmentACTL6A, ACTL6B0.60
437Cerebral palsyEnrichmentSMARCA40.58
438Charcot-marie-tooth diseaseEnrichmentNDRG10.56
439Hypertrophic cardiomyopathyEnrichmentPTPN110.55
440West syndromeEnrichmentTSC20.54
441Sensorineural hearing lossEnrichmentHGF0.51
442ThrombocytopeniaEnrichmentPTPN110.51
443HypertelorismEnrichmentPIK3CA0.48
444Familial isolated dilated cardiomyopathyEnrichmentRAF10.47
445Undetermined early-onset epileptic encephalopathyEnrichmentACTL6B0.45
446AutismEnrichmentACTL6B0.37
447Dilated cardiomyopathyEnrichmentRAF10.33
448Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF0.30

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