DNA damage response (only ATM dependent)

No Pathway Network information available for DNA damage response (only ATM dependent)

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

Disorders associated with DNA damage response (only ATM dependent) SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Bladder cancerEnrichmentATM, CDKN1A, CTNNB1, ERBB2, HRAS, KRAS, PIK3CA, PTEN, TP5316.00
2Colorectal cancerEnrichmentAPC, ATM, BAX, CCND1, CTNNB1, ERBB2, NRAS, PIK3CA, PIK3R1, SMAD4, TP5310.51
3Gallbladder cancerEnrichmentCTNNB1, KRAS, PIK3CA, SMAD4, TP539.36
4Gastric cancerEnrichmentAPC, ATM, ERBB2, KRAS, PIK3CA, PTEN, SMAD4, TP539.08
5Ovarian cancerEnrichmentAPC, ATM, CDKN1B, CTNNB1, ERBB2, KRAS, MAP3K1, PIK3CA, PTEN, TP538.44
6Lung non-small cell carcinomaEnrichmentERBB2, HRAS, KRAS, NRAS, PIK3CA8.04
7Breast cancerEnrichmentAPC, ATM, JUN, KRAS, PIK3CA, PTEN, SHC1, TP537.10
8Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA7.00
9Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, PIK3CA, TP536.45
10High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, BCL6, MYC6.40
11Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, PIK3CA, TP536.31
12Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, SOS1, SOS26.20
13Hereditary breast carcinomaEnrichmentAPC, ATM, KRAS, PIK3CA, PTEN, TP536.08
14RasopathyEnrichmentHRAS, KRAS, NRAS, SOS1, SOS25.92
15Lip and oral cavity carcinomaEnrichmentABL1, HRAS, PIK3CA, TP535.86
16Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.80
17Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, WNT5A5.80
18Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS5.80
19Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, WNT5A5.80
20Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, SOS15.43
21Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, WNT5A5.40
22Cowden syndrome 1EnrichmentLDLR, PIK3CA, PTEN5.10
23Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, WNT5A5.10
24Breast adenocarcinomaEnrichmentKRAS, PIK3CA, TP535.10
25Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS, PTEN4.86
26Leukemia, chronic myeloidEnrichmentABL1, KRAS, NRAS4.86
27Noonan syndrome 3EnrichmentHRAS, KRAS, SOS14.86
28Follicular thyroid carcinomaEnrichmentHRAS, NRAS, PTEN4.86
29Pancreatic cancerEnrichmentATM, KRAS, SMAD4, TP534.49
30Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP534.33
31Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.26
32Intravascular large b-cell lymphomaEnrichmentBCL2, BCL64.26
33Immune system diseaseEnrichmentCDC42, PIK3CD4.26
34Myeloma, multipleEnrichmentATM, CCND1, KRAS, PIK3R2, TP534.23
35Prostate cancerEnrichmentATM, PIK3CA, PTEN, TP534.22
36Lung cancerEnrichmentERBB2, FASLG, KRAS, PIK3CA4.05
37Lung cancer susceptibility 3EnrichmentERBB2, KRAS, TP533.86
38Desmoid disease, hereditaryEnrichmentAPC, CTNNB13.79
39Osteoporosis, juvenileEnrichmentWNT1, WNT3A3.79
40Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.79
41Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.79
42Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.79
43Desmoid tumorEnrichmentAPC, CTNNB13.79
44Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.79
45T-cell acute lymphoblastic leukemiaEnrichmentABL1, BAX3.79
46AdenocarcinomaEnrichmentATM, TP533.79
47RhabdomyosarcomaEnrichmentHRAS, PTEN, TP533.68
48Small cell cancer of the lungEnrichmentTP53, TP733.49
49Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.49
50Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentCCND2, PIK3R23.49
51Mantle cell lymphomaEnrichmentATM, CCND13.49
52Lung sarcomatoid carcinomaEnrichmentKRAS, TP533.49
53CraniopharyngiomaEnrichmentAPC, CTNNB13.49
54Inherited cancer-predisposing syndromeEnrichmentAPC, ATM, CDKN1B, PTEN, SMAD4, TP533.35
55Endometrial cancerEnrichmentATM, PIK3CA, PTEN3.32
56HepatoblastomaEnrichmentAPC, CTNNB1, TP533.32
57Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL33.27
58Follicular lymphomaEnrichmentBCL2, BCL63.27
59Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.27
60HemimegalencephalyEnrichmentPIK3CA, PTEN3.27
61Hereditary breast ovarian cancer syndromeEnrichmentATM, KRAS, PTEN, TP533.13
62Li-fraumeni syndromeEnrichmentMDM2, TP533.09
63Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.09
64Adrenocortical carcinomaEnrichmentCTNNB1, TP533.09
65Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA3.09
66Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B2.95
67Squamous cell carcinoma, head and neckEnrichmentPTEN, TP532.95
68Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA2.95
69B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, TP532.95
70Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS2.90
71Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS2.83
72Glioma susceptibility 1EnrichmentERBB2, TP532.83
73Arteriovenous malformationEnrichmentHRAS, PIK3CA2.72
74Colonic benign neoplasmEnrichmentAPC, ATM2.72
75Cowden syndromeEnrichmentPIK3CA, PTEN2.72
76Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA2.62
77Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.62
78Uterine corpus cancerEnrichmentATM, PTEN2.54
79Leukemia, acute myeloidEnrichmentKRAS, NRAS, TP532.49
80Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS2.46
81MeningiomaEnrichmentPIK3CA, PTEN2.46
82Type 2 diabetes mellitusEnrichmentINSR, IRS1, TCF7L22.43
83MedulloblastomaEnrichmentAPC, CTNNB12.33
8446,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS12.33
85Lynch syndromeEnrichmentKRAS, PIK3CA2.27
86GliosarcomaEnrichmentATM, TP532.21
87Giant cell glioblastomaEnrichmentATM, TP532.16
88MacrodactylyEnrichmentPIK3CA2.13
89Paget disease, extramammaryEnrichmentERBB22.13
90Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.13
91Mullerian aplasia and hyperandrogenismEnrichmentWNT42.13
92Donohue syndromeEnrichmentINSR2.13
93Oculoectodermal syndromeEnrichmentKRAS2.13
94Vacterl association with hydrocephalusEnrichmentPTEN2.13
95Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.13
96Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.13
97Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.13
98Noonan syndrome 4EnrichmentSOS12.13
9946,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT42.13
100Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC22.13
101Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB12.13
102Megalencephaly, autosomal dominantEnrichmentPIK3CA2.13
103Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND22.13
104Cowden syndrome 5EnrichmentPIK3CA2.13
105Split-hand/foot malformation 6EnrichmentWNT10B2.13
106Melanosis, neurocutaneousEnrichmentNRAS2.13
107Noonan syndrome 9EnrichmentSOS22.13
108Caudal duplication anomalyEnrichmentAXIN12.13
109Noonan syndrome 6EnrichmentNRAS2.13
110Tooth agenesis, selective, 8EnrichmentWNT10B2.13
11146,xy sex reversal 6EnrichmentMAP3K12.13
112Frontometaphyseal dysplasia 2EnrichmentMAP3K72.13
113Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.13
114Accelerated tumor formationEnrichmentMDM22.13
115Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.13
116Cerebral cavernous malformations 4EnrichmentPIK3CA2.13
117Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.13
118Ciliary dyskinesia, primary, 47, and lissencephalyEnrichmentTP732.13
119Noonan syndrome 13EnrichmentMAPK12.13
120Brunet-wagner neurodevelopmental syndromeEnrichmentRBL22.13
121Lessel-kubisch syndromeEnrichmentMDM22.13
122Short syndromeEnrichmentPIK3R12.13
123Bone marrow failure syndrome 5EnrichmentTP532.13
124Houge-janssens syndrome 4EnrichmentPPP2R5C2.13
125Diarrhea 9EnrichmentWNT2B2.13
126Papilloma of choroid plexusEnrichmentTP532.13
127Basal cell carcinoma 7EnrichmentTP532.13
128Oculoskeletodental syndromeEnrichmentPIK3C2A2.13
129Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC22.13
130Anaplastic thyroid carcinomaEnrichmentTP532.13
131Papillary tumor of the pineal regionEnrichmentPTEN2.13
132Bone mineral density quantitative trait locus 16EnrichmentWNT12.13
133Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.13
134Hemifacial myohyperplasiaEnrichmentPIK3CA2.13
135Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.13
136Santos syndromeEnrichmentWNT7A2.13
137Neuroendocrine tumorEnrichmentCDKN1B2.13
138AcatalasemiaEnrichmentCAT2.13
139Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.13
140Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.13
141Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.13
142Leukoencephalopathy with dystonia and motor neuropathyEnrichmentSCP22.13
143Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.13
144Endometrial serous adenocarcinomaEnrichmentATM2.13
145Glioma susceptibility 2EnrichmentPTEN2.13
146Ductal carcinoma in situEnrichmentTP532.13
147Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.13
148Takenouchi-kosaki syndromeEnrichmentCDC422.13
149Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.13
150Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC22.13
151Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.13
152Thyroid gland undifferentiated carcinomaEnrichmentTP532.13
153Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.13
154Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.13
155Adenoid ameloblastomaEnrichmentCTNNB12.13
156Heritable thoracic aortic diseaseEnrichmentSMAD42.13
157HypospadiasEnrichmentPIK3CA2.13
158Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.13
159Congenital pulmonary airway malformationEnrichmentKRAS2.13
160B-cell non-hodgkin lymphomaEnrichmentATM2.13
161Choroid plexus cancerEnrichmentTP532.13
162Rare venous malformationEnrichmentPIK3CA2.13
163Familial adenomatous polyposisEnrichmentAPC2.13
164Diaphragmatic eventrationEnrichmentPIK3CA2.13
165Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC22.13
166Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC22.13
167Nocarh syndromeEnrichmentCDC422.13
168Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.13
169Pleomorphic xanthoastrocytomaEnrichmentTP532.13
170Rare combined vascular malformationEnrichmentPIK3CA2.13
171Cavernous lymphangiomaEnrichmentPIK3CA2.13
172Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.13
173Oculocerebrodental syndromeEnrichmentPIK3C2A2.13
174Gardner syndromeEnrichmentAPC2.13
1755q22 microdeletion syndromeEnrichmentAPC2.13
176Phakomatosis pigmentokeratoticaEnrichmentHRAS2.13
177Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.13
178Attenuated familial adenomatous polyposisEnrichmentAPC2.13
179Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.13
180Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.13
181Eccrine angiomatous hamartomaEnrichmentPIK3CA2.13
182Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC22.13
183Macrodactyly of toeEnrichmentPIK3CA2.13
184Serous carcinoma of the corpus uteriEnrichmentERBB22.13
185Neurocutaneous melanocytosisEnrichmentNRAS2.13
186Microcystic stromal tumorEnrichmentCTNNB12.13
187Diffuse large b-cell lymphomaEnrichmentPTEN, TP532.06
188Tooth agenesisEnrichmentWNT10A, WNT10B1.94
189Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL1, MYC1.90
190Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.83
191Burkitt lymphomaEnrichmentMYC1.83
192Fibromatosis, gingival, 1EnrichmentSOS11.83
193Myhre syndromeEnrichmentSMAD41.83
194Tooth agenesis, selective, 4EnrichmentWNT10A1.83
195Adrenocortical carcinoma, hereditaryEnrichmentTP531.83
196Camurati-engelmann disease 1EnrichmentTGFB11.83
197Costello syndromeEnrichmentHRAS1.83
198Schopf-schulz-passarge syndromeEnrichmentWNT10A1.83
199Phosphoenolpyruvate carboxykinase deficiency, mitochondrialEnrichmentPCK21.83
200Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.83
201Bladder exstrophy and epispadias complexEnrichmentWNT31.83
202Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.83
203Quebec platelet disorderEnrichmentPLAU1.83
204Cervical cancerEnrichmentTP531.83
205Odontoonychodermal dysplasiaEnrichmentWNT10A1.83
206Pulmonic stenosisEnrichmentSOS11.83
207Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.83
208Tetraamelia syndrome 1EnrichmentWNT31.83
209Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.83
210Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.83
211Keratosis, seborrheicEnrichmentPIK3CA1.83
212Osteogenesis imperfecta, type xvEnrichmentWNT11.83
213Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.83
214Roifman-chitayat syndromeEnrichmentPIK3CD1.83
215Robinow syndrome, autosomal dominant 3EnrichmentDVL31.83
216Noonan syndrome 8EnrichmentPIK3CA1.83
217Spermatogenic failure 17EnrichmentPIK3C2G1.83
218Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.83
219Lymphoma, hodgkin, classicEnrichmentTP531.83
220Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.83
221Loeys-dietz syndrome 3EnrichmentSMAD31.83
222Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.83
223Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.83
224Cardiac valvular dysplasia, x-linkedEnrichmentATM1.83
225Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.83
226Hyperlipoproteinemia, type iiiEnrichmentLDLR1.83
227Childhood hepatocellular carcinomaEnrichmentCTNNB11.83
228Split hand-foot malformationEnrichmentLEF11.83
229Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.83
230Camurati-engelmann diseaseEnrichmentTGFB11.83
231Congenital fibrosarcomaEnrichmentTP531.83
232High grade gliomaEnrichmentATM1.83
233Li-fraumeni syndrome 1EnrichmentTP531.83
234SarcomaEnrichmentTP531.83
235Periampullary adenomaEnrichmentAPC1.83
236Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.83
237Cervix carcinomaEnrichmentTP531.83
238Hodgkin's lymphomaEnrichmentTP531.83
239T-cell prolymphocytic leukemiaEnrichmentATM1.83
240Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.83
241Vacterl with hydrocephalusEnrichmentPTEN1.83
242TeratomaEnrichmentCTNNB11.83
243Primary mediastinal large b-cell lymphomaEnrichmentBCL61.83
244Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.83
245Juvenile polyposis of infancyEnrichmentPTEN1.83
246Pleomorphic rhabdomyosarcomaEnrichmentTP531.83
247Wooly hair nevusEnrichmentHRAS1.83
248Hypercholesterolemia, familial, 2EnrichmentLDLR1.65
249Ataxia-telangiectasiaEnrichmentATM1.65
250Juvenile polyposis syndromeEnrichmentSMAD41.65
251Polycythemia veraEnrichmentATM1.65
252Pompe disease, infantile-onsetEnrichmentPIK3CA1.65
253Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG1.65
254Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR1.65
255Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.65
256Microphthalmia, syndromic 9EnrichmentWNT7B1.65
257Tooth agenesis, selective, 2EnrichmentWNT10A1.65
258Nuchal bleb, familialEnrichmentSOS11.65
259Langerhans cell histiocytosisEnrichmentNRAS1.65
260Osteogenic sarcomaEnrichmentTP531.65
261Hypercholesterolemia, familial, 4EnrichmentLDLR1.65
262Nasopharyngeal carcinomaEnrichmentTP531.65
263Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.65
264Cenani-lenz syndactyly syndromeEnrichmentAPC1.65
265Anus, imperforateEnrichmentCTNNB11.65
266Exudative vitreoretinopathy 7EnrichmentCTNNB11.65
267Koolen-de vries syndromeEnrichmentATM1.65
268Dedifferentiated liposarcomaEnrichmentMDM21.65
269Syndromic x-linked intellectual disability najm typeEnrichmentLDLR1.65
270Atypical teratoid rhabdoid tumorEnrichmentTP531.65
271Anaplastic astrocytomaEnrichmentTP531.65
272Frontometaphyseal dysplasiaEnrichmentMAP3K71.65
273Squamous cell carcinomaEnrichmentTP531.65
274Laryngeal squamous cell carcinomaEnrichmentPTEN1.65
275Bone osteosarcomaEnrichmentTP531.65
276SpermatocytomaEnrichmentHRAS1.65
277Tetraamelia syndromeEnrichmentWNT31.65
278Respiratory failureEnrichmentTP731.65
279Colon adenocarcinomaEnrichmentAPC1.65
280Phosphoenolpyruvate carboxykinase deficiencyEnrichmentPCK21.65
281Well-differentiated liposarcomaEnrichmentMDM21.65
282KeratoacanthomaEnrichmentPIK3CA1.65
283Apc-associated polyposis conditionsEnrichmentAPC1.65
284Non-immune hydrops fetalisEnrichmentHRAS, KRAS1.65
285Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.53
286Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.53
287Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.53
288Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.53
289Glycogen storage disease iaEnrichmentG6PC11.53
290Thyroid cancer, nonmedullary, 1EnrichmentTP531.53
291Autoimmune lymphoproliferative syndromeEnrichmentFASLG1.53
292Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.53
293PilomatrixomaEnrichmentCTNNB11.53
294Barrett esophagusEnrichmentERBB21.53
295Alazami syndromeEnrichmentCTNNB11.53
296Cardiofaciocutaneous syndromeEnrichmentKRAS1.53
297Ectodermal dysplasiaEnrichmentWNT10A1.53
298Cerebrovascular diseaseEnrichmentPIK3CA1.53
299Embryonal rhabdomyosarcomaEnrichmentTP531.53
300Aortic aneurysmEnrichmentSMAD31.53
301Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC421.53
302Pilocytic astrocytomaEnrichmentKRAS1.53
303Epidermolytic nevusEnrichmentHRAS1.53
304Familial cerebral cavernous malformationsEnrichmentPIK3CA1.53
305Primary hyperparathyroidismEnrichmentCDKN1B1.53
306GliomaEnrichmentPTEN1.53
307Gingival fibromatosisEnrichmentSOS11.53
308Oculomotor apraxiaEnrichmentATM1.53
309Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.53
310Capillary malformations, congenitalEnrichmentPIK3CA1.44
311Alzheimer disease 2EnrichmentPLAU1.44
312Hyperlipidemia, familial combined, 3EnrichmentLDLR1.44
313Exudative vitreoretinopathy 1EnrichmentCTNNB11.44
314Von hippel-lindau syndromeEnrichmentCCND11.44
315Rhabdomyosarcoma 2EnrichmentTP531.44
316Macrocephaly/autism syndromeEnrichmentPTEN1.44
317Familial adenomatous polyposis 1EnrichmentAPC1.44
318LymphomaEnrichmentTP531.44
319GlioblastomaEnrichmentATM1.44
320HemangiomaEnrichmentPTEN1.44
321HypoglycemiaEnrichmentG6PC11.44
322Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.44
323Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.44
324Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD3, SMAD41.37
325Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.36
326Weyers acrofacial dysostosisEnrichmentCTNNB11.36
327Split-hand/foot malformation 1EnrichmentLEF11.36
328Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.36
329DiarrheaEnrichmentWNT2B1.36
330Lipid metabolism disorderEnrichmentLDLR1.36
331Clear cell renal cell carcinomaEnrichmentATM1.36
332Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.36
33346,xy disorder of sex developmentEnrichmentINSR1.36
334Esophageal cancerEnrichmentTP531.29
335Renal cell carcinoma, papillary, 1EnrichmentATM1.29
336Essential thrombocythemiaEnrichmentTP531.29
337Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.29
338Pilomyxoid astrocytomaEnrichmentKRAS1.29
339Overgrowth syndromeEnrichmentPIK3R11.29
340Moyamoya angiopathyEnrichmentABL11.29
341Lymphoma, non-hodgkin, familialEnrichmentTP531.24
342Lennox-gastaut syndromeEnrichmentMAPK101.24
343Exudative vitreoretinopathyEnrichmentCTNNB11.24
344Homozygous familial hypercholesterolemiaEnrichmentLDLR1.24
345Isolated split hand-split foot malformationEnrichmentWNT10B1.24
346MicrocephalyEnrichmentABL1, CTNNB1, MAPK11.19
347Coronary heart disease 5EnrichmentLDLR1.19
348Loeys-dietz syndromeEnrichmentSMAD31.19
349Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.19
350Primary hyperaldosteronismEnrichmentTP531.19
351Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.19
352Lynch syndrome 1EnrichmentATM1.14
353MelanomaEnrichmentPTEN1.14
354Familial colorectal cancerEnrichmentTP531.14
355Immune deficiency diseaseEnrichmentATM1.10
356Meningioma, familialEnrichmentPTEN1.10
357Myelodysplastic syndromeEnrichmentTP531.10
35846,xy complete gonadal dysgenesisEnrichmentMAP3K11.10
359Glycogen storage diseaseEnrichmentG6PC11.10
360Familial colorectal cancer type xEnrichmentATM1.10
361Specific learning disabilityEnrichmentMAPK11.10
362Aortic valve disease 1EnrichmentSOS11.03
363Hypercholesterolemia, familial, 1EnrichmentLDLR1.03
364Osteogenesis imperfecta, type ivEnrichmentWNT11.03
365Breast-ovarian cancer, familial 1EnrichmentATM1.03
366Protein-deficiency anemiaEnrichmentNRAS1.03
367Nk-cell enteropathyEnrichmentPIK3CB1.03
368OsteoporosisEnrichmentWNT11.00
369Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.00
370Heart diseaseEnrichmentABL11.00
371Renal cell carcinoma, nonpapillaryEnrichmentATM0.97
372Osteogenesis imperfecta, type iiiEnrichmentWNT10.97
373Familial hypercholesterolemiaEnrichmentLDLR0.97
374Alzheimer disease, familial, 1EnrichmentPLAU0.92
375Polycystic liver diseaseEnrichmentCTNNB10.92
376Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.92
377Heart, malformation ofEnrichmentMAPK10.90
378Arteriovenous malformations of the brainEnrichmentKRAS0.88
379Ehlers-danlos syndromeEnrichmentSMAD30.88
380Macs syndromeEnrichmentWNT7B0.86
381Maturity-onset diabetes of the youngEnrichmentMLKL0.86
382MicrophthalmiaEnrichmentWNT7B0.82
383Diamond-blackfan anemia 1EnrichmentTP530.80
384Brittle bone disorderEnrichmentWNT10.80
385Hydrops fetalis, nonimmuneEnrichmentHRAS0.75
386Congenital nervous system abnormalityEnrichmentCTNNB1, PTEN0.73
387Nervous system diseaseEnrichmentCTNNB1, PTEN0.73
388Hirschsprung disease 1EnrichmentERBB20.71
389Cystic fibrosisEnrichmentTGFB10.67
390Connective tissue diseaseEnrichmentSMAD30.67
391Diamond-blackfan anemiaEnrichmentTP530.63
392ThrombocytopeniaEnrichmentSMAD40.52
393HypertelorismEnrichmentPIK3CA0.49
394AutismEnrichmentTCF7L20.38
395Autism spectrum disorderEnrichmentPTEN0.25
396Complex neurodevelopmental disorderEnrichmentTCF7L20.22

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