Colorectal Cancer Metastasis

No Pathway Network information available for Colorectal Cancer Metastasis

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

Disorders associated with Colorectal Cancer Metastasis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Colorectal cancerEnrichmentAKT1, APC, AXIN2, BAX, BRAF, CCND1, CDH1, CTNNB1, DCC, FZD3, MLH1, MSH2, MSH6, PIK3R1, SMAD4, SRC, TLR2, TP5310.93
2Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR29.57
3Gallbladder cancerEnrichmentBRAF, CTNNB1, KRAS, SMAD4, TP538.29
4Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K27.67
5Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K27.67
6Gastric cancerEnrichmentAPC, CDH1, KRAS, MLH1, MSH2, MSH6, SMAD4, TP537.39
7Hereditary breast carcinomaEnrichmentAKT1, APC, CDH1, KRAS, MLH1, MSH2, MSH6, TP537.31
8Noonan syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K2, SOS1, SOS26.60
9Breast cancerEnrichmentAKT1, APC, CDH1, GNG3, KRAS, MLH1, MSH2, MSH6, TP536.53
10Ovarian cancerEnrichmentAKT1, APC, AXIN2, CDH1, CTNNB1, EGFR, KRAS, MSH2, MSH6, TP536.40
11RasopathyEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, SOS1, SOS26.25
12Inherited cancer-predisposing syndromeEnrichmentAPC, AXIN2, CDH1, EGFR, MLH1, MSH2, MSH3, MSH6, PRKAR1A, SMAD4, TP536.22
13Lynch syndromeEnrichmentKRAS, MLH1, MSH2, MSH6, TGFBR26.17
14Noonan syndrome and noonan-related syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, SOS16.17
15Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR26.04
16Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR25.75
17Endometrial cancerEnrichmentCDH1, MLH1, MSH2, MSH3, MSH65.36
18Lung non-small cell carcinomaEnrichmentBRAF, EGFR, KRAS, MAP2K15.19
19Robinow syndrome, autosomal dominant 1EnrichmentDVL1, FZD2, WNT5A5.15
20Mismatch repair cancer syndrome 1EnrichmentMLH1, MSH2, MSH65.15
21CraniopharyngiomaEnrichmentAPC, BRAF, CTNNB15.15
22Autosomal dominant robinow syndromeEnrichmentDVL1, FZD2, WNT5A5.15
23Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP54.76
24Robinow syndrome, autosomal recessive 1EnrichmentDVL1, FZD2, WNT5A4.76
25Lung cancer susceptibility 3EnrichmentBRAF, EGFR, KRAS, TP534.72
26Bladder cancerEnrichmentCDKN1A, CTNNB1, EGFR, KRAS, TP534.63
27Autosomal recessive robinow syndromeEnrichmentDVL1, FZD2, WNT5A4.46
28Adrenocortical carcinomaEnrichmentCTNNB1, PRKAR1A, TP534.46
29Breast adenocarcinomaEnrichmentAKT1, KRAS, TP534.46
30Myeloma, multipleEnrichmentBRAF, CCND1, KRAS, PIK3R2, TCF3, TP534.24
31Esophageal cancerEnrichmentDCC, TGFBR2, TP534.22
32Arteriovenous malformations of the brainEnrichmentBRAF, EGFR, IL6, KRAS4.15
33Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP54.02
34HepatoblastomaEnrichmentAPC, CTNNB1, MSH2, TP533.97
35Tooth agenesisEnrichmentAXIN2, LRP6, WNT10A, WNT10B3.89
36Adult hepatocellular carcinomaEnrichmentCTNNB1, EGF, TP533.85
37Primary hyperaldosteronismEnrichmentBRAF, GNAS, TP533.85
38Muir-torre syndromeEnrichmentMLH1, MSH23.83
39Pulmonic stenosisEnrichmentBRAF, SOS13.83
40Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.83
41Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS, PRKAR1A3.83
42Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.83
43Lynch syndrome 1EnrichmentMLH1, MSH2, MSH63.70
44Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR23.70
45Familial colorectal cancerEnrichmentMLH1, MSH2, TP533.70
46Lip and oral cavity carcinomaEnrichmentBRAF, EGFR, TP533.45
47Desmoid disease, hereditaryEnrichmentAPC, CTNNB13.36
48Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP14, MMP23.36
49Langerhans cell histiocytosisEnrichmentBRAF, MAP2K13.36
50Osteoporosis, juvenileEnrichmentWNT1, WNT3A3.36
51Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, STAT33.36
52Desmoid tumorEnrichmentAPC, CTNNB13.36
53Colon adenocarcinomaEnrichmentAPC, MSH63.36
54Hereditary breast ovarian cancer syndromeEnrichmentKRAS, MLH1, MSH2, MSH6, TP533.27
55Lung cancerEnrichmentBRAF, EGFR, KRAS, MLH13.24
56OsteoporosisEnrichmentLRP5, SRC, WNT13.23
57Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, KRAS3.06
58Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP533.06
59Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentCCND2, PIK3R23.06
60Lynch syndrome 4EnrichmentMSH2, MSH63.06
61Lung sarcomatoid carcinomaEnrichmentKRAS, TP533.06
62Retinopathy of prematurityEnrichmentFZD4, LRP53.06
63Aortic aneurysmEnrichmentSMAD3, TGFBR13.06
64RhabdomyosarcomaEnrichmentMSH2, MSH6, TP533.06
65GliosarcomaEnrichmentEGFR, MSH2, TP533.06
66Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP62.97
67Giant cell glioblastomaEnrichmentEGFR, MSH2, TP532.97
68Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP62.97
69Robinow syndrome, autosomal dominant 2EnrichmentDVL1, FZD22.84
70Behcet syndromeEnrichmentIFNGR1, TLR4, TNFRSF1A2.83
71Diffuse large b-cell lymphomaEnrichmentBRAF, STAT3, TP532.83
72Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR22.83
73Lung squamous cell carcinomaEnrichmentEGFR, KRAS2.67
74Hepatocellular carcinomaEnrichmentAPC, CTNNB1, TP532.64
75Squamous cell carcinoma, head and neckEnrichmentEGFR, TP532.53
76Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K12.53
77Noonan syndrome 3EnrichmentKRAS, SOS12.53
78Pilomyxoid astrocytomaEnrichmentBRAF, KRAS2.53
79Pancreatic cancerEnrichmentKRAS, SMAD4, TP532.48
80Spastic paraplegia 4, autosomal dominantEnrichmentGNAS, TCF42.41
81Lymphoma, non-hodgkin, familialEnrichmentBRAF, TP532.41
82Ellis-van creveld syndromeEnrichmentPRKACA, PRKACB2.30
83Colonic benign neoplasmEnrichmentAPC, MLH12.30
84Prostate cancerEnrichmentCDH1, MSH6, TP532.29
85Leukemia, chronic lymphocyticEnrichmentCCND1, TP532.21
86Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R1, TCF32.21
87Myelodysplastic syndromeEnrichmentGNB1, TP532.12
88Uterine corpus cancerEnrichmentMSH2, MSH62.12
89Acute promyelocytic leukemiaEnrichmentPRKAR1A, STAT31.98
90MedulloblastomaEnrichmentAPC, CTNNB11.92
91Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A1.91
92Proteus syndromeEnrichmentAKT11.91
93Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A1.91
94Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.91
95Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.91
96Mullerian aplasia and hyperandrogenismEnrichmentWNT41.91
97Leprosy 3EnrichmentTLR21.91
98Oculoectodermal syndromeEnrichmentKRAS1.91
99Helicobacter pylori infectionEnrichmentIFNGR11.91
100Bone mineral density quantitative trait locus 1EnrichmentLRP51.91
101Exudative vitreoretinopathy 4EnrichmentLRP51.91
102Legionnaire diseaseEnrichmentTLR51.91
103Oligodontia-colorectal cancer syndromeEnrichmentAXIN21.91
104Hypomagnesemia 4, renalEnrichmentEGF1.91
105Noonan syndrome 4EnrichmentSOS11.91
106Pseudohypoparathyroidism, type icEnrichmentGNAS1.91
10746,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.91
108Carney complex, type 1EnrichmentPRKAR1A1.91
109Melorheostosis, isolatedEnrichmentMAP2K11.91
110Osseous heteroplasia, progressiveEnrichmentGNAS1.91
111Omodysplasia 2EnrichmentFZD21.91
112Noonan syndrome 7EnrichmentBRAF1.91
113Leopard syndrome 3EnrichmentBRAF1.91
114Immunodeficiency 83 viral infectionsEnrichmentTLR31.91
115Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND21.91
116Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.91
117Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.91
118Split-hand/foot malformation 6EnrichmentWNT10B1.91
119Tooth agenesis, selective, 7EnrichmentLRP61.91
120Noonan syndrome 9EnrichmentSOS21.91
121Dyskinesia with orofacial involvement, autosomal dominantEnrichmentADCY51.91
122Leprosy 5EnrichmentTLR11.91
123Tooth agenesis, selective, 8EnrichmentWNT10B1.91
124Deafness, autosomal recessive 44EnrichmentADCY11.91
125Ataxia-oculomotor apraxia 3EnrichmentPIK3R51.91
126Immunodeficiency 27aEnrichmentIFNGR11.91
127Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.91
128Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.91
129Exudative vitreoretinopathy 8EnrichmentLRP61.91
130Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.91
131Immunodeficiency 69EnrichmentIFNG1.91
132Noonan syndrome 13EnrichmentMAPK11.91
133Neurodevelopmental disorder with hyperkinetic movements and dyskinesiaEnrichmentADCY51.91
134Pituitary adenoma 3, multiple typesEnrichmentGNAS1.91
135Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.91
136Short syndromeEnrichmentPIK3R11.91
137Immunodeficiency 74, covid19-related, x-linkedEnrichmentTLR71.91
138Bone marrow failure syndrome 5EnrichmentTP531.91
139Winchester syndromeEnrichmentMMP141.91
140Systemic lupus erythematosus 1EnrichmentTLR51.91
141Diarrhea 9EnrichmentWNT2B1.91
142X-linked immunodeficiency 74EnrichmentTLR71.91
143Papilloma of choroid plexusEnrichmentTP531.91
144Basal cell carcinoma 7EnrichmentTP531.91
145Lynch syndrome 2EnrichmentMLH11.91
146Systemic lupus erythematosus 17EnrichmentTLR71.91
147Anaplastic thyroid carcinomaEnrichmentTP531.91
148Cardioacrofacial dysplasia 2EnrichmentPRKACB1.91
149T-cell large granular lymphocyte leukemiaEnrichmentSTAT31.91
150Myxoma, intracardiacEnrichmentPRKAR1A1.91
151Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.91
152Coronary artery disease, autosomal dominant 2EnrichmentLRP61.91
153Bone mineral density quantitative trait locus 16EnrichmentWNT11.91
154Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.91
155Dyskinesia with orofacial involvement, autosomal recessiveEnrichmentADCY51.91
156Microvascular complications of diabetes 1EnrichmentVEGFA1.91
157Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.91
158LymphangiomaEnrichmentBRAF1.91
159Immunodeficiency 27bEnrichmentIFNGR11.91
160Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.91
161Camurati-engelmann disease 2EnrichmentTGFB21.91
162Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.91
163Phace associationEnrichmentBRAF1.91
164Santos syndromeEnrichmentWNT7A1.91
165MelorheostosisEnrichmentMAP2K11.91
166Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.91
167Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R1.91
168Immunodeficiency 31aEnrichmentSTAT11.91
169Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R1.91
170Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.91
171Multiple sclerosis 5EnrichmentTNFRSF1A1.91
172Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.91
173Cowden syndrome 6EnrichmentAKT11.91
174Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R1.91
175MelioidosisEnrichmentTLR51.91
176Pigmented nodular adrenocortical disease, primary, 4EnrichmentPRKACA1.91
177Loeys-dietz syndrome 6EnrichmentSMAD21.91
178Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.91
179Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.91
180Microphthalmia/coloboma 11EnrichmentFZD51.91
181Macular degeneration, age-related, 10EnrichmentTLR41.91
182Immunodeficiency 31bEnrichmentSTAT11.91
183Disorders of gnas inactivationEnrichmentGNAS1.91
184Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF41.91
185Ductal carcinoma in situEnrichmentTP531.91
186Loeys-dietz syndrome 5EnrichmentTGFB31.91
187Mismatch repair cancer syndrome 2EnrichmentMSH21.91
188Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT31.91
189Cardioacrofacial dysplasia 1EnrichmentPRKACA1.91
190Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A1.91
191Thrombocytopenia 6EnrichmentSRC1.91
192Maturity-onset diabetes of the young, type 14EnrichmentAPPL11.91
193Gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual developmentEnrichmentDCC1.91
194Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.91
195Sick sinus syndrome 4EnrichmentGNB21.91
196Rectal benign neoplasmEnrichmentMSH21.91
197Thyroid gland undifferentiated carcinomaEnrichmentTP531.91
198Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.91
199Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.91
200Adenoid ameloblastomaEnrichmentCTNNB11.91
201Heritable thoracic aortic diseaseEnrichmentSMAD41.91
202Lrp5-related primary osteoporosisEnrichmentLRP51.91
203Ascending colon cancerEnrichmentMSH21.91
204Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.91
205Prkar1b-related neurodegenerative dementia with intermediate filamentsEnrichmentPRKAR1B1.91
206Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT31.91
207Breast lobular carcinomaEnrichmentCDH11.91
208Congenital pulmonary airway malformationEnrichmentKRAS1.91
209Choroid plexus cancerEnrichmentTP531.91
210Ovarian cystEnrichmentMSH21.91
211Familial adenomatous polyposisEnrichmentAPC1.91
212Syringocystadenoma papilliferumEnrichmentBRAF1.91
213Pleomorphic xanthoastrocytomaEnrichmentTP531.91
214GangliogliomaEnrichmentBRAF1.91
215Nongerminomatous germ cell tumorEnrichmentBRAF1.91
216Monostotic fibrous dysplasiaEnrichmentGNAS1.91
217Phace syndromeEnrichmentBRAF1.91
218Gardner syndromeEnrichmentAPC1.91
219Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.91
2205q22 microdeletion syndromeEnrichmentAPC1.91
221Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial ifngammar2 deficiencyEnrichmentIFNGR21.91
222Attenuated familial adenomatous polyposisEnrichmentAPC1.91
223Classic hairy cell leukemiaEnrichmentBRAF1.91
224Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT31.91
225Mazabraud syndromeEnrichmentGNAS1.91
226Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK11.91
227Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF1.91
228Microcystic stromal tumorEnrichmentCTNNB11.91
229Human immunodeficiency virus type 1EnrichmentIFNG, TLR31.70
230Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.62
231Blepharocheilodontic syndrome 1EnrichmentCDH11.62
232Burkitt lymphomaEnrichmentMYC1.62
233Fibromatosis, gingival, 1EnrichmentSOS11.62
234Pseudohypoparathyroidism, type iaEnrichmentGNAS1.62
235Myhre syndromeEnrichmentSMAD41.62
236Tooth agenesis, selective, 4EnrichmentWNT10A1.62
237Adrenocortical carcinoma, hereditaryEnrichmentTP531.62
238Camurati-engelmann disease 1EnrichmentTGFB11.62
239Van buchem diseaseEnrichmentLRP51.62
240Amelogenesis imperfecta, type igEnrichmentPRKAR1A1.62
241Schopf-schulz-passarge syndromeEnrichmentWNT10A1.62
242Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.62
243Bladder exstrophy and epispadias complexEnrichmentWNT31.62
244Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.62
245Cervical cancerEnrichmentTP531.62
246Odontoonychodermal dysplasiaEnrichmentWNT10A1.62
247Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R51.62
248Tetraamelia syndrome 1EnrichmentWNT31.62
249PseudopseudohypoparathyroidismEnrichmentGNAS1.62
250Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.62
251Microvascular complications of diabetes 5EnrichmentTGFBR21.62
252Osteogenesis imperfecta, type xvEnrichmentWNT11.62
253Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.62
254Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.62
255Lethal congenital contracture syndrome 8EnrichmentADCY61.62
256Bleeding disorder, platelet-type, 19EnrichmentPRKACG1.62
257Robinow syndrome, autosomal dominant 3EnrichmentFZD21.62
258Night blindness, congenital stationary, type 1hEnrichmentGNB31.62
259Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.62
260Lymphoma, hodgkin, classicEnrichmentTP531.62
261Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.62
262Oguchi disease 2EnrichmentGRK11.62
263Loeys-dietz syndrome 3EnrichmentSMAD31.62
264Immunodeficiency 31cEnrichmentSTAT11.62
265Marbach-schaaf neurodevelopmental syndromeEnrichmentPRKAR1B1.62
266Usher syndrome, type ivEnrichmentPRKAR1A1.62
267Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.62
268Immunodeficiency 127EnrichmentTNF1.62
269Childhood hepatocellular carcinomaEnrichmentCTNNB11.62
270Recessive dystrophic epidermolysis bullosaEnrichmentMMP11.62
271Split hand-foot malformationEnrichmentLEF11.62
272Leprosy 1EnrichmentTLR61.62
273AcrodysostosisEnrichmentPRKAR1A1.62
274PseudohypoparathyroidismEnrichmentGNAS1.62
275Camurati-engelmann diseaseEnrichmentTGFB11.62
276Congenital fibrosarcomaEnrichmentTP531.62
277Metaphyseal anadysplasia 2EnrichmentMMP91.62
278Body mass index quantitative trait locus 19EnrichmentADCY31.62
279Li-fraumeni syndrome 1EnrichmentTP531.62
280SarcomaEnrichmentTP531.62
281Fibrolamellar carcinomaEnrichmentPRKACA1.62
282Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.62
283Periampullary adenomaEnrichmentAPC1.62
284Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.62
285Cervix carcinomaEnrichmentTP531.62
286Hodgkin's lymphomaEnrichmentTP531.62
287Ciliary dyskinesia, primary, 18EnrichmentPRKAR1B1.62
288Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.62
289Mismatch repair cancer syndrome 3EnrichmentMSH61.62
290Horizontal gaze palsy with progressive scoliosisEnrichmentDCC1.62
291Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.62
292Metaphyseal anadysplasiaEnrichmentMMP91.62
293Intermittent hydrarthrosisEnrichmentTNFRSF1A1.62
294Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A1.62
295B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.62
296Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.62
297Oguchi diseaseEnrichmentGRK11.62
298TeratomaEnrichmentCTNNB11.62
299OsteosclerosisEnrichmentLRP51.62
300Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.62
301B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.62
302Common variable immunodeficiency 12EnrichmentNFKB11.62
303Pleomorphic rhabdomyosarcomaEnrichmentTP531.62
304Tafro syndromeEnrichmentMAP2K21.62
305Cerebral visual impairmentEnrichmentGNB11.62
306Multisystem inflammatory syndrome in childrenEnrichmentTLR3, TLR61.54
307Brittle bone disorderEnrichmentLRP5, WNT11.50
308MalariaEnrichmentNOS2, TNF1.50
309Congenital stationary night blindnessEnrichmentGNB3, GRK11.50
310Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.44
311Mccune-albright syndromeEnrichmentGNAS1.44
312Ataxia-telangiectasiaEnrichmentBRAF1.44
313Juvenile polyposis syndromeEnrichmentSMAD41.44
314Asthma, nasal polyps, and aspirin intoleranceEnrichmentPTGER21.44
315Tuberous sclerosis 1EnrichmentIFNG1.44
316Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentTLR81.44
317Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.44
318Microphthalmia, syndromic 9EnrichmentWNT7B1.44
319Tooth agenesis, selective, 2EnrichmentWNT10A1.44
320Osteopetrosis, autosomal dominant 1EnrichmentLRP51.44
321Nuchal bleb, familialEnrichmentSOS11.44
322Osteogenic sarcomaEnrichmentTP531.44
323Psoriatic arthritisEnrichmentTNF1.44
324Hepatitis c virusEnrichmentIFNG1.44
325Nasopharyngeal carcinomaEnrichmentTP531.44
326Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.44
327Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.44
328Tuberous sclerosis 2EnrichmentIFNG1.44
329Cenani-lenz syndactyly syndromeEnrichmentAPC1.44
330Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.44
331Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.44
332Lynch syndrome 5EnrichmentMSH61.44
333Immunodeficiency 28EnrichmentIFNGR21.44
334Anus, imperforateEnrichmentCTNNB11.44
335Familial adenomatous polyposis 4EnrichmentMSH31.44
336Exudative vitreoretinopathy 7EnrichmentCTNNB11.44
337Tethered spinal cord syndromeEnrichmentBRAF1.44
338Hyper ige syndromeEnrichmentSTAT31.44
339High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.44
340Nail diseaseEnrichmentFZD61.44
341Atypical teratoid rhabdoid tumorEnrichmentTP531.44
342Anaplastic astrocytomaEnrichmentTP531.44
343Immunodeficiency 14EnrichmentPIK3R11.44
344Squamous cell carcinomaEnrichmentTP531.44
345Cellular ependymomaEnrichmentMSH21.44
346Tanycytic ependymomaEnrichmentMSH21.44
347Papillary ependymomaEnrichmentMSH21.44
348T-cell acute lymphoblastic leukemiaEnrichmentBAX1.44
349AdenocarcinomaEnrichmentTP531.44
350Migraine without auraEnrichmentTNF1.44
351Bone osteosarcomaEnrichmentTP531.44
352Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.44
353Tetraamelia syndromeEnrichmentWNT31.44
354Intellectual developmental disorder with dysmorphic facies and behavioral abnormalitiesEnrichmentMSH61.44
355Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.44
356Clear cell ependymomaEnrichmentMSH21.44
357Megalencephalic leukoencephalopathy with subcortical cystsEnrichmentMLC11.44
358Hypomyelination neuropathy-arthrogryposis syndromeEnrichmentADCY61.44
359Apc-associated polyposis conditionsEnrichmentAPC1.44
360Autism spectrum disorderEnrichmentDCC, GNB1, MAP2K1, TCF41.36
361Kaposi sarcomaEnrichmentIL61.32
362Mirror movements 1EnrichmentDCC1.32
363Chorea, benign hereditaryEnrichmentADCY51.32
364Schimmelpenning-feuerstein-mims syndromeEnrichmentKRAS1.32
365Gaucher disease, type iEnrichmentMSH61.32
366Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.32
367Small cell cancer of the lungEnrichmentTP531.32
368Anemia, autoimmune hemolyticEnrichmentTLR81.32
369Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.32
370Pseudohypoparathyroidism, type ibEnrichmentGNAS1.32
371Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.32
372Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.32
373Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.32
374Pitt-hopkins syndromeEnrichmentTCF41.32
375Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.32
376PilomatrixomaEnrichmentCTNNB11.32
377Carney complex variantEnrichmentPRKAR1A1.32
378Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A1.32
379Alazami syndromeEnrichmentCTNNB11.32
380Mantle cell lymphomaEnrichmentCCND11.32
381Orofacial cleftEnrichmentLRP61.32
382Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.32
383Ectodermal dysplasiaEnrichmentWNT10A1.32
384Hepatitis bEnrichmentIFNGR11.32
385Embryonal rhabdomyosarcomaEnrichmentTP531.32
386Noonan syndrome with multiple lentiginesEnrichmentBRAF1.32
387Pilocytic astrocytomaEnrichmentKRAS1.32
388Newborn respiratory distress syndromeEnrichmentBRAF1.32
389Eyelid colobomaEnrichmentFZD51.32
390Cerebral malariaEnrichmentTNF1.32
391Systemic-onset juvenile idiopathic arthritisEnrichmentIL61.32
392VitreoretinopathyEnrichmentLRP51.32
393Benign ependymomaEnrichmentMSH21.32
394Orofacial clefting syndromeEnrichmentLRP61.32
395Gingival fibromatosisEnrichmentSOS11.32
396Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.32
397Lens colobomaEnrichmentFZD51.32
398Familial sick sinus syndromeEnrichmentGNB21.32
399Differentiated thyroid carcinomaEnrichmentBRAF, KRAS1.32
400Non-immune hydrops fetalisEnrichmentFZD6, KRAS1.26
401Connective tissue diseaseEnrichmentSMAD3, TGFBR21.24
402Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.23
403Von hippel-lindau syndromeEnrichmentCCND11.23
404Norrie diseaseEnrichmentFZD41.23
405Rhabdomyosarcoma 2EnrichmentTP531.23
406Megalencephalic leukoencephalopathy with subcortical cysts 1EnrichmentMLC11.23
407Rheumatoid arthritis, systemic juvenileEnrichmentIL61.23
408Familial adenomatous polyposis 1EnrichmentAPC1.23
409Cholangitis, primary sclerosingEnrichmentTCF41.23
410Fuchs' endothelial dystrophyEnrichmentTCF41.23
411LymphomaEnrichmentTP531.23
412GlioblastomaEnrichmentMSH21.23
413Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.23
414Persistent hyperplastic primary vitreousEnrichmentFZD41.23
415Vascular dementiaEnrichmentTNF1.23
416Acute megakaryocytic leukemiaEnrichmentTP531.23
417Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.23
418Herpes simplex virus encephalitisEnrichmentTLR31.23
419Coloboma of choroid and retinaEnrichmentFZD51.23
420Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.23
421Idiopathic aplastic anemiaEnrichmentIFNG1.23
422MicrocephalyEnrichmentCTNNB1, GNB1, MAPK1, TCF41.20
423Atrial septal defect 1EnrichmentTGFB21.15
424Li-fraumeni syndromeEnrichmentTP531.15
425Coloboma of optic nerveEnrichmentFZD51.15
426Cowden syndrome 1EnrichmentEGFR1.15
427Weyers acrofacial dysostosisEnrichmentCTNNB11.15
428Split-hand/foot malformation 1EnrichmentLEF11.15
429Type 1 diabetes mellitusEnrichmentIL61.15
430Wilms tumor 5EnrichmentBRAF1.15
431Renal dysplasia, cysticEnrichmentWNT9B1.15
432Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.15
433Renal hypoplasiaEnrichmentWNT9B1.15
434DiarrheaEnrichmentWNT2B1.15
435Chronic mucocutaneous candidiasisEnrichmentSTAT11.15
436Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.15
437Classic ehlers-danlos syndromeEnrichmentTGFBR11.15
438Multicystic kidney dysplasiaEnrichmentFZD31.15
439Cleft lip with or without cleft palateEnrichmentCDH11.15
440Multicystic dysplastic kidneyEnrichmentFZD31.15
441Systemic lupus erythematosusEnrichmentTLR7, TNF1.09
442Nevus, epidermalEnrichmentKRAS1.09
443Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.09
444Thyroid cancer, nonmedullary, 2EnrichmentBRAF1.09
445MyelofibrosisEnrichmentSRC1.09
446Coats diseaseEnrichmentFZD41.09
447Leukemia, chronic myeloidEnrichmentKRAS1.09
448BrachydactylyEnrichmentGNAS1.09
449Essential thrombocythemiaEnrichmentTP531.09
450Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.09
451Common variable immunodeficiencyEnrichmentNFKB11.09
452Follicular thyroid carcinomaEnrichmentBRAF1.09
453Overgrowth syndromeEnrichmentPIK3R11.09
454B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.09
455Leukemia, acute myeloidEnrichmentKRAS, TP531.07
456Melanocytic nevus syndrome, congenitalEnrichmentBRAF1.03
457Glioma susceptibility 1EnrichmentTP531.03
458Renal hypodysplasia/aplasia 1EnrichmentWNT9B1.03
459HypothyroidismEnrichmentGNB11.03
460Permanent neonatal diabetes mellitusEnrichmentSTAT31.03
461Isolated split hand-split foot malformationEnrichmentWNT10B1.03
462Tooth agenesis, selective, 1EnrichmentAXIN20.98
463Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF0.98
464Rheumatoid arthritisEnrichmentTLR10.98
465Charge syndromeEnrichmentTNFRSF1A0.98
466Inflammatory bowel disease 1EnrichmentIL60.98
467Arteriovenous malformationEnrichmentMAP2K10.98
468Ventricular septal defectEnrichmentBRAF0.98
469Cowden syndromeEnrichmentAKT10.98
470Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.98
471Renal agenesis, bilateralEnrichmentWNT9B0.98
472Cat eye syndromeEnrichmentFZD50.94
473Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K10.94
474Ciliary dyskinesia, primary, 3EnrichmentNFKB10.94
475Aplastic anemiaEnrichmentIFNG0.94
476MelanomaEnrichmentBRAF0.94
477ThrombocytopeniaEnrichmentSMAD4, SRC0.94
478Body mass index quantitative trait locus 11EnrichmentADCY3, GNAS0.91
479Autosomal dominant non-syndromic intellectual disabilityEnrichmentGNB1, TCF40.91
480Pectus excavatumEnrichmentTGFBR10.90
481AsthmaEnrichmentTNF0.90
482Leukemia, acute lymphoblasticEnrichmentGNB10.90
483Specific learning disabilityEnrichmentMAPK10.90
484EpicanthusEnrichmentTCF40.86
485Juvenile myelomonocytic leukemiaEnrichmentKRAS0.86
486MeningiomaEnrichmentAKT10.86
487Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.86
488Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.86
489Congenital nervous system abnormalityEnrichmentCTNNB1, GNB5, MLC10.86
490Nervous system diseaseEnrichmentCTNNB1, GNB5, MLC10.86
491Aortic valve disease 1EnrichmentSOS10.83
492Microphthalmia/coloboma 12EnrichmentFZD50.83
493Osteogenesis imperfecta, type ivEnrichmentWNT10.83
494Breast-ovarian cancer, familial 1EnrichmentMSH20.83
495Alzheimer's diseaseEnrichmentTNF0.83
496Stereotypic movement disorderEnrichmentTCF40.83
497Chronic kidney diseaseEnrichmentWNT9B0.83
498Multiple sclerosisEnrichmentTNFRSF1A0.80
499Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.80
500Cleft lip/palateEnrichmentCDH10.80
501Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.80
50246,xy partial gonadal dysgenesisEnrichmentSOS10.80
503Coloboma of maculaEnrichmentFZD50.78
504Wilms tumor 1EnrichmentBRAF0.78
505Corpus callosum, agenesis ofEnrichmentDCC0.78
506Osteogenesis imperfecta, type iiiEnrichmentWNT10.78
507HydrocephalusEnrichmentFZD30.78
508Isolated corpus callosum agenesisEnrichmentDCC0.78
509Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentDCC0.78
510Hypertension, essentialEnrichmentGNB30.73
511Melanoma, cutaneous malignant 1EnrichmentBRAF0.73
512Cleft palate, isolatedEnrichmentGNB10.73
513Dandy-walker syndromeEnrichmentBRAF0.73
514Heart, malformation ofEnrichmentMAPK10.70
515Macs syndromeEnrichmentWNT7B0.66
516Maturity-onset diabetes of the youngEnrichmentAPPL10.66
517Attention deficit-hyperactivity disorderEnrichmentGNB50.63
518Visceral heterotaxyEnrichmentLEFTY20.63
519MicrophthalmiaEnrichmentWNT7B0.63
520Diamond-blackfan anemia 1EnrichmentTP530.61
521Kallmann syndromeEnrichmentDCC0.61
522Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.61
523Autoinflammatory diseaseEnrichmentTNFRSF1A0.59
524Jeune thoracic dystrophyEnrichmentGRK20.58
525Hydrops fetalis, nonimmuneEnrichmentFZD60.56
526StrabismusEnrichmentGNB10.55
527Asphyxiating thoracic dystrophyEnrichmentGRK20.54
528Hirschsprung disease 1EnrichmentAXIN20.52
529Cystic fibrosisEnrichmentTGFB10.49
530Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentGRK20.48
531DystoniaEnrichmentGNB10.46
532Diamond-blackfan anemiaEnrichmentTP530.45
533Cerebral palsyEnrichmentGNB10.42
534Type 2 diabetes mellitusEnrichmentIL60.40
535Distal arthrogryposisEnrichmentFZD30.40
536Primary ciliary dyskinesiaEnrichmentPRKAR1B0.22
537Dilated cardiomyopathyEnrichmentBRAF0.20
538Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentADCY10.18
539Hereditary retinal dystrophyEnrichmentFZD4, GRK1, LRP50.16
540Fundus dystrophyEnrichmentFZD4, GRK1, LRP50.16
541Complex neurodevelopmental disorderEnrichmentGNB20.11

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