Epithelial to mesenchymal transition in colorectal cancer

No Pathway Network information available for Epithelial to mesenchymal transition in colorectal cancer

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

Disorders associated with Epithelial to mesenchymal transition in colorectal cancer SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR29.64
2Gallbladder cancerEnrichmentCTNNB1, KRAS, PIK3CA, SMAD4, TP538.34
3Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS28.21
4Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, RAF1, SOS17.93
5RasopathyEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS27.80
6Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR27.39
7Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA, TP536.55
8Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, DSP, JUP, PKP2, TGFB36.39
9Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS16.19
10Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR25.78
11KeratoacanthomaEnrichmentNOTCH1, NOTCH2, PIK3CA5.78
12Digenic alport syndromeEnrichmentCOL4A3, COL4A4, COL4A55.78
13Lung non-small cell carcinomaEnrichmentHRAS, KRAS, MAP2K1, PIK3CA5.23
14Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K25.19
15Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.19
16Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K25.19
17Colorectal cancerEnrichmentAKT1, CDH1, CTNNB1, FZD3, PIK3CA, PIK3R1, SMAD4, TP535.06
18Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentDSP, JUP, PKP2, TGFB35.06
19Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentDSP, JUP, PKP2, TGFB35.06
20Alport syndrome 3a, autosomal dominantEnrichmentCOL4A3, COL4A4, COL4A54.79
21Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP54.79
22Autosomal dominant alport syndromeEnrichmentCOL4A3, COL4A4, COL4A54.79
23Alport syndromeEnrichmentCOL4A3, COL4A4, COL4A54.79
24Bladder cancerEnrichmentCTNNB1, HRAS, KRAS, PIK3CA, TP534.68
25Kidney diseaseEnrichmentCOL4A3, COL4A4, COL4A5, PKD14.63
26Nevus, epidermalEnrichmentHRAS, KRAS, PIK3CA4.26
27Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA4.26
28Adams-oliver syndromeEnrichmentDLL4, NOTCH1, RBPJ4.26
29Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF1, ZEB24.06
30Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP54.06
31Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA3.88
32Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA, TP533.88
33Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR23.85
34Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisEnrichmentCLDN1, CLDN163.85
35Hypomagnesemia 5, renal, with or without ocular involvementEnrichmentCLDN16, CLDN193.85
36Renal hypomagnesemia 5 with ocular involvementEnrichmentCLDN16, CLDN193.85
37Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB33.85
38X-linked diffuse leiomyomatosis-alport syndromeEnrichmentCOL4A5, COL4A63.85
39Gastric cancerEnrichmentCDH1, KRAS, PIK3CA, SMAD4, TP533.83
40Hereditary breast carcinomaEnrichmentAKT1, CDH1, KRAS, PIK3CA, TP533.78
41Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR23.73
42Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA3.73
43Breast cancerEnrichmentAKT1, CDH1, KRAS, PIK3CA, SHC1, TP533.58
44Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA, TP533.48
45Hematuria, benign familial, 1EnrichmentCOL4A3, COL4A43.38
46Weaver syndromeEnrichmentEZH2, SUZ123.38
47Osteoporosis, juvenileEnrichmentWNT1, WNT3A3.38
48Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.38
49Epidermolysis bullosa, lethal acantholyticEnrichmentDSP, JUP3.38
50Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R13.38
51Immunodeficiency 14EnrichmentPIK3CD, PIK3R13.38
52Aortic valve disease 1EnrichmentDSP, NOTCH1, SOS13.37
53Chronic kidney diseaseEnrichmentCOL4A4, COL4A5, WNT9B3.37
54Non-immune hydrops fetalisEnrichmentFOXC2, FZD6, HRAS, KRAS3.33
55Lynch syndromeEnrichmentKRAS, PIK3CA, TGFBR23.17
56Arrhythmogenic right ventricular cardiomyopathyEnrichmentDSP, JUP, PKP23.09
57HypertensionEnrichmentCOL4A4, COL4A5, PKD13.09
58Brain small vessel disease 1 with or without ocular anomaliesEnrichmentCOL4A1, COL4A23.08
59Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS3.08
60Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, KRAS3.08
61Alport syndrome 2, autosomal recessiveEnrichmentCOL4A3, COL4A43.08
62Robinow syndrome, autosomal dominant 1EnrichmentFZD2, WNT5A3.08
63Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.08
64Lung sarcomatoid carcinomaEnrichmentKRAS, TP533.08
65Retinopathy of prematurityEnrichmentFZD4, LRP53.08
66Cerebrovascular diseaseEnrichmentNOTCH3, PIK3CA3.08
67Aortic aneurysmEnrichmentSMAD3, TGFBR13.08
68Autosomal dominant robinow syndromeEnrichmentFZD2, WNT5A3.08
69Autosomal recessive alport syndromeEnrichmentCOL4A3, COL4A43.08
70Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP63.01
71Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP63.01
72Ovarian cancerEnrichmentAKT1, CDH1, CTNNB1, KRAS, PIK3CA, TP532.89
73Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentPKP2, TGFB32.86
74Robinow syndrome, autosomal recessive 1EnrichmentFZD2, WNT5A2.86
75Arrhythmogenic right ventricular dysplasia 1EnrichmentPKP2, TGFB32.86
76HemimegalencephalyEnrichmentAKT3, PIK3CA2.86
77Familial porencephalyEnrichmentCOL4A1, COL4A22.86
78Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR22.86
79Nephrotic syndromeEnrichmentCOL4A3, COL4A4, COL4A5, FN12.78
80HepatoblastomaEnrichmentCTNNB1, JAG1, TP532.73
81Renal dysplasia, cysticEnrichmentPKD1, WNT9B2.69
82Hemorrhage, intracerebralEnrichmentCOL4A1, COL4A22.69
83Autosomal recessive robinow syndromeEnrichmentFZD2, WNT5A2.69
84Adrenocortical carcinomaEnrichmentCTNNB1, TP532.69
85Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA2.69
86Inherited arrhythmogenic cardiomyopathyEnrichmentDSP, PKP22.69
87Multicystic kidney dysplasiaEnrichmentFZD3, PKD12.69
88Multicystic dysplastic kidneyEnrichmentFZD3, PKD12.69
89Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA, TP532.67
90Tooth agenesisEnrichmentLRP6, WNT10A, WNT10B2.67
91Esophageal cancerEnrichmentTGFBR2, TP532.55
92Pilomyxoid astrocytomaEnrichmentKRAS, RAF12.55
93MegacolonEnrichmentAKT3, ZEB22.55
94Pancreatic cancerEnrichmentKRAS, SMAD4, TP532.51
95Hydrops fetalis, nonimmuneEnrichmentFOXC2, FZD6, HRAS2.46
96Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentDSP, PKP22.32
97Cowden syndromeEnrichmentAKT1, PIK3CA2.32
98Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentDSP, PKP22.32
99Prostate cancerEnrichmentCDH1, PIK3CA, TP532.32
100NephrocalcinosisEnrichmentCLDN16, CLDN192.23
101NephrolithiasisEnrichmentCLDN16, CLDN192.23
102Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R12.23
103Connective tissue diseaseEnrichmentNOTCH1, SMAD3, TGFBR22.20
104Left ventricular noncompactionEnrichmentDSP, PKP2, RAF12.09
105MeningiomaEnrichmentAKT1, PIK3CA2.07
106Osteogenesis imperfecta, type ivEnrichmentSPARC, WNT12.00
107Cerebral palsyEnrichmentCOL4A1, COL4A2, PALS11.96
108OsteoporosisEnrichmentLRP5, WNT11.94
109Aortic aneurysm, familial thoracic 1EnrichmentNOTCH1, SMAD31.94
110Lung cancer susceptibility 3EnrichmentKRAS, TP531.94
111MacrodactylyEnrichmentPIK3CA1.93
112Proteus syndromeEnrichmentAKT11.93
113Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.93
114Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.93
115Barber-say syndromeEnrichmentTWIST21.93
116Mullerian aplasia and hyperandrogenismEnrichmentWNT41.93
117Hypomagnesemia 3, renalEnrichmentCLDN161.93
118Pseudo-torch syndrome 1EnrichmentOCLN1.93
119Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.93
120Oculoectodermal syndromeEnrichmentKRAS1.93
121Alport syndrome 1, x-linkedEnrichmentCOL4A51.93
122Bone mineral density quantitative trait locus 1EnrichmentLRP51.93
123Exudative vitreoretinopathy 4EnrichmentLRP51.93
124Ectodermal dysplasia/skin fragility syndromeEnrichmentPKP11.93
125Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP1.93
126Noonan syndrome 5EnrichmentRAF11.93
127Noonan syndrome 4EnrichmentSOS11.93
12846,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.93
129Intellectual developmental disorder, autosomal recessive 7EnrichmentTUSC31.93
130Melorheostosis, isolatedEnrichmentMAP2K11.93
131Megalencephaly, autosomal dominantEnrichmentPIK3CA1.93
132Omodysplasia 2EnrichmentFZD21.93
133Focal facial dermal dysplasia 2, brauer-setleis typeEnrichmentTWIST21.93
134Hajdu-cheney syndromeEnrichmentNOTCH21.93
135Alagille syndrome 2EnrichmentNOTCH21.93
136Cardiomyopathy, dilated, 1nnEnrichmentRAF11.93
137Lateral meningocele syndromeEnrichmentNOTCH31.93
138Multiple self-healing squamous epitheliomaEnrichmentTGFBR11.93
139Cowden syndrome 5EnrichmentPIK3CA1.93
140Cardiofaciocutaneous syndrome 3EnrichmentMAP2K11.93
141Split-hand/foot malformation 6EnrichmentWNT10B1.93
142Focal facial dermal dysplasia 3, setleis typeEnrichmentTWIST21.93
143Tooth agenesis, selective, 7EnrichmentLRP61.93
144Noonan syndrome 9EnrichmentSOS21.93
145Tooth agenesis, selective, 8EnrichmentWNT10B1.93
146Ablepharon-macrostomia syndromeEnrichmentTWIST21.93
147Exudative vitreoretinopathy 8EnrichmentLRP61.93
148Naxos diseaseEnrichmentJUP1.93
149Cerebral cavernous malformations 4EnrichmentPIK3CA1.93
150Charcot-marie-tooth disease, axonal, type 2hhEnrichmentJAG11.93
151Noonan syndrome 13EnrichmentMAPK11.93
152Helix syndromeEnrichmentCLDN101.93
153Adams-oliver syndrome 6EnrichmentDLL41.93
154Deafness, x-linked 6EnrichmentCOL4A61.93
155Hyperemesis gravidarumEnrichmentGDF151.93
156Short syndromeEnrichmentPIK3R11.93
157Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK11.93
158Bone marrow failure syndrome 5EnrichmentTP531.93
159Deafness, autosomal recessive 116EnrichmentCLDN91.93
160Azoospermia, obstructive, with nephrolithiasisEnrichmentCLDN21.93
161Diarrhea 9EnrichmentWNT2B1.93
162Papilloma of choroid plexusEnrichmentTP531.93
163Basal cell carcinoma 7EnrichmentTP531.93
164PorencephalyEnrichmentCOL4A11.93
165Imagawa-matsumoto syndromeEnrichmentSUZ121.93
166Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH21.93
167Anaplastic thyroid carcinomaEnrichmentTP531.93
168Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.93
169Coronary artery disease, autosomal dominant 2EnrichmentLRP61.93
170Bone mineral density quantitative trait locus 16EnrichmentWNT11.93
171Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.93
172Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT31.93
173Camurati-engelmann disease 2EnrichmentTGFB21.93
174Hemifacial myohyperplasiaEnrichmentPIK3CA1.93
175Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.93
176Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.93
177Santos syndromeEnrichmentWNT7A1.93
178MelorheostosisEnrichmentMAP2K11.93
179Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR21.93
180Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH21.93
181Leopard syndrome 2EnrichmentRAF11.93
182Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.93
183Cardiofaciocutaneous syndrome 4EnrichmentMAP2K21.93
184Cowden syndrome 6EnrichmentAKT11.93
185Myofibromatosis, infantile, 2EnrichmentNOTCH31.93
186Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD1.93
187Loeys-dietz syndrome 6EnrichmentSMAD21.93
188Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.93
189Microphthalmia/coloboma 11EnrichmentFZD51.93
190Ductal carcinoma in situEnrichmentTP531.93
191Loeys-dietz syndrome 5EnrichmentTGFB31.93
192Cohen-gibson syndromeEnrichmentEED1.93
193Leukodystrophy, hypomyelinating, 22EnrichmentCLDN111.93
194Muscular dystrophy, limb-girdle, autosomal recessive 27EnrichmentJAG21.93
195Mitochondrial complex i deficiency, nuclear type 21EnrichmentNUBPL1.93
196Deafness, congenital heart defects, and posterior embryotoxonEnrichmentJAG11.93
197Primary hypomagnesemiaEnrichmentCLDN161.93
198TrigonitisEnrichmentRAF11.93
199Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.93
200Thyroid gland undifferentiated carcinomaEnrichmentTP531.93
201Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD21.93
202Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.93
203Attention deficit-hyperactivity disorder 8EnrichmentCDH21.93
204Adenoid ameloblastomaEnrichmentCTNNB11.93
205Heritable thoracic aortic diseaseEnrichmentSMAD41.93
206Col4a1-related disordersEnrichmentCOL4A11.93
207Autosomal recessive cerebral atrophyEnrichmentTMPRSS41.93
208Skin fragility-woolly hair-palmoplantar keratoderma syndromeEnrichmentDSP1.93
209HypospadiasEnrichmentPIK3CA1.93
210Lrp5-related primary osteoporosisEnrichmentLRP51.93
211Capillary hemangiomaEnrichmentAKT31.93
212Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.93
213Transient cerebral ischemiaEnrichmentNOTCH31.93
214Breast lobular carcinomaEnrichmentCDH11.93
215Congenital pulmonary airway malformationEnrichmentKRAS1.93
216Choroid plexus cancerEnrichmentTP531.93
217Rare venous malformationEnrichmentPIK3CA1.93
218Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1EnrichmentNOTCH31.93
219Col4a1 or col4a2-related cerebral small vessel diseaseEnrichmentCOL4A11.93
220Diaphragmatic eventrationEnrichmentPIK3CA1.93
221Renovascular hypertensionEnrichmentPKD11.93
222X-linked alport syndromeEnrichmentCOL4A51.93
223Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.93
224Pleomorphic xanthoastrocytomaEnrichmentTP531.93
225Rare combined vascular malformationEnrichmentPIK3CA1.93
226Cavernous lymphangiomaEnrichmentPIK3CA1.93
227Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.93
228Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.93
229Phakomatosis pigmentokeratoticaEnrichmentHRAS1.93
230Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.93
231Eccrine angiomatous hamartomaEnrichmentPIK3CA1.93
232Macrodactyly of toeEnrichmentPIK3CA1.93
233Microcystic stromal tumorEnrichmentCTNNB11.93
234Akt2-related familial partial lipodystrophyEnrichmentAKT21.93
235Corpus callosum, agenesis ofEnrichmentCDH2, COL4A11.88
236Isolated corpus callosum agenesisEnrichmentCDH2, COL4A11.88
237Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, COL4A11.88
238RhabdomyosarcomaEnrichmentHRAS, TP531.82
239Heart, malformation ofEnrichmentJAG1, MAPK11.72
240Polycystic kidney diseaseEnrichmentCOL4A4, PKD11.72
241Inherited cancer-predisposing syndromeEnrichmentCDH1, EZH2, PKD1, SMAD4, TP531.69
242Arteriovenous malformations of the brainEnrichmentCDH2, KRAS1.68
243Focal segmental glomerulosclerosisEnrichmentCOL4A4, COL4A51.64
244Blepharocheilodontic syndrome 1EnrichmentCDH11.63
245Fibromatosis, gingival, 1EnrichmentSOS11.63
246Myhre syndromeEnrichmentSMAD41.63
247Tooth agenesis, selective, 4EnrichmentWNT10A1.63
248Adrenocortical carcinoma, hereditaryEnrichmentTP531.63
249Camurati-engelmann disease 1EnrichmentTGFB11.63
250Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN11.63
251Costello syndromeEnrichmentHRAS1.63
252Van buchem diseaseEnrichmentLRP51.63
253Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN11.63
254Schopf-schulz-passarge syndromeEnrichmentWNT10A1.63
255Robinow-sorauf syndromeEnrichmentTWIST11.63
256Mowat-wilson syndromeEnrichmentZEB21.63
257Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.63
258Bladder exstrophy and epispadias complexEnrichmentWNT31.63
259Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.63
260Arrhythmogenic right ventricular dysplasia, familial, 8EnrichmentDSP1.63
261Cervical cancerEnrichmentTP531.63
262Odontoonychodermal dysplasiaEnrichmentWNT10A1.63
263Pulmonic stenosisEnrichmentSOS11.63
264Tetraamelia syndrome 1EnrichmentWNT31.63
265Piebald traitEnrichmentSNAI21.63
266Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.63
267Microvascular complications of diabetes 5EnrichmentTGFBR21.63
268Lymphedema-distichiasis syndromeEnrichmentFOXC21.63
269Keratosis, seborrheicEnrichmentPIK3CA1.63
270Osteogenesis imperfecta, type xvEnrichmentWNT11.63
271Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.63
272Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.63
273Roifman-chitayat syndromeEnrichmentPIK3CD1.63
274Adams-oliver syndrome 5EnrichmentNOTCH11.63
275Specific language impairment 5EnrichmentCOL4A41.63
276Robinow syndrome, autosomal dominant 3EnrichmentFZD21.63
277Noonan syndrome 8EnrichmentPIK3CA1.63
278Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.63
279Lymphoma, hodgkin, classicEnrichmentTP531.63
280Keratosis palmoplantaris striata iiEnrichmentDSP1.63
281Loeys-dietz syndrome 3EnrichmentSMAD31.63
282Adams-oliver syndrome 3EnrichmentRBPJ1.63
283Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1EnrichmentCOL4A21.63
284Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisEnrichmentDSP1.63
285Sweeney-cox syndromeEnrichmentTWIST11.63
286Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizuresEnrichmentDLL11.63
287Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.63
288Infantile myofibromatosisEnrichmentNOTCH31.63
289Childhood hepatocellular carcinomaEnrichmentCTNNB11.63
290Senior-loken syndrome 7EnrichmentAKT31.63
291Progressive familial heart blockEnrichmentDSP1.63
292Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.63
293Central precocious pubertyEnrichmentDLK11.63
294Lipodystrophy, familial partial, type 1EnrichmentNOTCH31.63
295Osteogenesis imperfecta, type xviiEnrichmentSPARC1.63
296Depressive disorderEnrichmentNOTCH31.63
297Camurati-engelmann diseaseEnrichmentTGFB11.63
298Congenital fibrosarcomaEnrichmentTP531.63
299GlomerulonephritisEnrichmentCOL4A41.63
300Metaphyseal anadysplasia 2EnrichmentMMP91.63
301Li-fraumeni syndrome 1EnrichmentTP531.63
302Cardiomyopathy, dilated, with woolly hair and keratodermaEnrichmentDSP1.63
303SarcomaEnrichmentTP531.63
304Deafness, autosomal recessive 29EnrichmentCLDN141.63
305Intellectual developmental disorder, autosomal recessive 24EnrichmentTUSC31.63
306Cervix carcinomaEnrichmentTP531.63
307Immune system diseaseEnrichmentPIK3CD1.63
308Hodgkin's lymphomaEnrichmentTP531.63
309Bardet-biedl syndrome 16EnrichmentAKT31.63
310Polycystic kidney disease 3EnrichmentPKD11.63
311Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.63
312Metaphyseal anadysplasiaEnrichmentMMP91.63
313Crohn's diseaseEnrichmentFMNL21.63
314TeratomaEnrichmentCTNNB11.63
315OsteosclerosisEnrichmentLRP51.63
316Non-syndromic sagittal craniosynostosisEnrichmentTWIST11.63
317Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.63
318Pleomorphic rhabdomyosarcomaEnrichmentTP531.63
319Tafro syndromeEnrichmentMAP2K21.63
320Malignant peritoneal mesotheliomaEnrichmentLATS21.63
321Wooly hair nevusEnrichmentHRAS1.63
322Endometrial cancerEnrichmentCDH1, PIK3CA1.60
323Myeloma, multipleEnrichmentKRAS, PIK3R2, TP531.54
324Brittle bone disorderEnrichmentLRP5, WNT11.52
325Desmoid disease, hereditaryEnrichmentCTNNB11.45
326Craniosynostosis 1EnrichmentTWIST11.45
327Retinal arteries, tortuosity ofEnrichmentCOL4A11.45
328Alagille syndrome 1EnrichmentJAG11.45
329Juvenile polyposis syndromeEnrichmentSMAD41.45
330Pompe disease, infantile-onsetEnrichmentPIK3CA1.45
331Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.45
332Microphthalmia, syndromic 9EnrichmentWNT7B1.45
333Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentPKD11.45
334Tooth agenesis, selective, 2EnrichmentWNT10A1.45
335Osteopetrosis, autosomal dominant 1EnrichmentLRP51.45
336Glomerulopathy with fibronectin deposits 2EnrichmentFN11.45
337Nuchal bleb, familialEnrichmentSOS11.45
338Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.45
339Langerhans cell histiocytosisEnrichmentMAP2K11.45
340Osteogenic sarcomaEnrichmentTP531.45
341Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB11.45
342Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB11.45
343Nasopharyngeal carcinomaEnrichmentTP531.45
344Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.45
345Tuberous sclerosis 2EnrichmentPKD11.45
346Brain small vessel disease 2EnrichmentCOL4A21.45
347Thrombocytopenia 5EnrichmentCLDN161.45
348Anus, imperforateEnrichmentCTNNB11.45
349Microangiopathy and leukoencephalopathy, pontine, autosomal dominantEnrichmentCOL4A11.45
350Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-igeEnrichmentDSP1.45
351Exudative vitreoretinopathy 7EnrichmentCTNNB11.45
352Pilarowski-bjornsson syndromeEnrichmentCOL4A31.45
353Woolly hair-skin fragility syndromeEnrichmentDSP1.45
354Alport syndrome 3b, autosomal recessiveEnrichmentCOL4A31.45
355Large congenital melanocytic nevusEnrichmentHRAS1.45
356Desmoid tumorEnrichmentCTNNB11.45
357Keratosis palmoplantaris striataEnrichmentDSP1.45
358Precocious puberty, central, 2EnrichmentDLK11.45
359Nail diseaseEnrichmentFZD61.45
360Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsEnrichmentCOL4A11.45
361Atypical teratoid rhabdoid tumorEnrichmentTP531.45
362Leukodystrophy and acquired microcephaly with or without dystoniaEnrichmentDLL31.45
363Anaplastic astrocytomaEnrichmentTP531.45
364Squamous cell carcinomaEnrichmentTP531.45
365AdenocarcinomaEnrichmentTP531.45
366Intraocular pressure quantitative trait locusEnrichmentZEB11.45
367Migraine without auraEnrichmentNOTCH31.45
368Hematuria, benign familial, 2EnrichmentCOL4A31.45
369End stage renal diseaseEnrichmentPKD11.45
370Bone osteosarcomaEnrichmentTP531.45
371SpermatocytomaEnrichmentHRAS1.45
372Arachnoid cystEnrichmentPALS11.45
373Tetraamelia syndromeEnrichmentWNT31.45
374EnchondromatosisEnrichmentHIF1A1.45
375Tetralogy of fallotEnrichmentJAG1, NOTCH11.42
376Auditory neuropathyEnrichmentCDH2, NOTCH31.42
377Differentiated thyroid carcinomaEnrichmentHRAS, KRAS1.34
378Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.33
379Small cell cancer of the lungEnrichmentTP531.33
380SchizencephalyEnrichmentCOL4A11.33
381Thyroid cancer, nonmedullary, 1EnrichmentTP531.33
382Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.33
383Kagami-ogata syndromeEnrichmentDLK11.33
384Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.33
385Saethre-chotzen syndromeEnrichmentTWIST11.33
386PilomatrixomaEnrichmentCTNNB11.33
387Temple syndromeEnrichmentDLK11.33
388Alazami syndromeEnrichmentCTNNB11.33
389Orofacial cleftEnrichmentLRP61.33
390Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.33
391Ectodermal dysplasiaEnrichmentWNT10A1.33
392Tuberous sclerosisEnrichmentPKD11.33
393Embryonal rhabdomyosarcomaEnrichmentTP531.33
394CraniopharyngiomaEnrichmentCTNNB11.33
395Noonan syndrome with multiple lentiginesEnrichmentRAF11.33
396Pilocytic astrocytomaEnrichmentKRAS1.33
397Corneal dystrophyEnrichmentZEB11.33
398Epidermolytic nevusEnrichmentHRAS1.33
399Familial cerebral cavernous malformationsEnrichmentPIK3CA1.33
400Eyelid colobomaEnrichmentFZD51.33
401Non-syndromic bicoronal craniosynostosisEnrichmentTWIST11.33
402Genetic central precocious puberty in maleEnrichmentDLK11.33
403VitreoretinopathyEnrichmentLRP51.33
404Orofacial clefting syndromeEnrichmentLRP61.33
405Middle aortic syndromeEnrichmentJAG11.33
406Rare x-linked non-syndromic sensorineural deafness type dfnEnrichmentCOL4A61.33
407Gingival fibromatosisEnrichmentSOS11.33
408Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.33
409Lens colobomaEnrichmentFZD51.33
410Long qt syndrome 1EnrichmentDSP, PKP21.31
411Lung cancerEnrichmentKRAS, PIK3CA1.26
412Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.24
413Capillary malformations, congenitalEnrichmentPIK3CA1.24
414Enchondromatosis, multiple, ollier typeEnrichmentHIF1A1.24
415Polycystic liver disease 1 with or without kidney cystsEnrichmentPKD11.24
416Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentNOTCH31.24
417Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentPKD11.24
418Norrie diseaseEnrichmentFZD41.24
419Rhabdomyosarcoma 2EnrichmentTP531.24
420Robinow syndrome, autosomal dominant 2EnrichmentFZD21.24
421Fuchs' endothelial dystrophyEnrichmentZEB11.24
422LymphomaEnrichmentTP531.24
423Cardiac arrestEnrichmentDSP1.24
424Polycystic liver disease 1EnrichmentPKD11.24
425HemangiomaEnrichmentPKD11.24
426Persistent hyperplastic primary vitreousEnrichmentFZD41.24
427Aplasia cutis congenitaEnrichmentDLL41.24
428Vascular dementiaEnrichmentNOTCH31.24
429Acute megakaryocytic leukemiaEnrichmentTP531.24
430Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.24
431Coloboma of choroid and retinaEnrichmentFZD51.24
432Endometrial stromal sarcomaEnrichmentSUZ121.24
433Mitochondrial oxidative phosphorylation disorderEnrichmentNUBPL1.24
434Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.24
435Atrial septal defect 1EnrichmentTGFB21.16
436Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.16
437Li-fraumeni syndromeEnrichmentTP531.16
438Coloboma of optic nerveEnrichmentFZD51.16
439Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB11.16
440Cowden syndrome 1EnrichmentPIK3CA1.16
441Weyers acrofacial dysostosisEnrichmentCTNNB11.16
442Hemihyperplasia, isolatedEnrichmentPIK3CA1.16
443AnxietyEnrichmentPALS11.16
444Anterior segment dysgenesis 5EnrichmentCOL4A11.16
445Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.16
446Renal hypoplasiaEnrichmentWNT9B1.16
447KeratoconusEnrichmentCOL4A11.16
448DiarrheaEnrichmentWNT2B1.16
449Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.16
450Classic ehlers-danlos syndromeEnrichmentTGFBR11.16
451Spondylocostal dysostosis, autosomal recessiveEnrichmentDLL31.16
452Cleft lip with or without cleft palateEnrichmentCDH11.16
453Dilated cardiomyopathyEnrichmentDSP, JUP, RAF11.16
454Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentPKD11.10
455Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.10
456Squamous cell carcinoma, head and neckEnrichmentTP531.10
457Coats diseaseEnrichmentFZD41.10
458Waardenburg syndrome, type 2eEnrichmentSNAI21.10
459Leukemia, chronic myeloidEnrichmentKRAS1.10
460Multiple enchondromatosis, maffucci typeEnrichmentHIF1A1.10
461Polycystic kidney disease 1EnrichmentPKD11.10
462Essential thrombocythemiaEnrichmentTP531.10
463Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.10
464Follicular thyroid carcinomaEnrichmentHRAS1.10
465Overgrowth syndromeEnrichmentPIK3R11.10
466B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.10
467Leukemia, acute myeloidEnrichmentKRAS, TP531.09
468Type 2 diabetes mellitusEnrichmentAKT2, RBPJ1.05
469Glioma susceptibility 1EnrichmentTP531.04
470Renal hypodysplasia/aplasia 1EnrichmentWNT9B1.04
471Spondylocostal dysostosis 1, autosomal recessiveEnrichmentDLL31.04
472Polycystic kidney disease 4 with or without polycystic liver diseaseEnrichmentPKD11.04
473Lymphoma, non-hodgkin, familialEnrichmentTP531.04
474Perrault syndromeEnrichmentCLDN141.04
475MyocarditisEnrichmentDSP1.04
476Hypoplastic left heart syndromeEnrichmentNOTCH11.04
477Isolated split hand-split foot malformationEnrichmentWNT10B1.04
478Inflammatory bowel disease 1EnrichmentFMNL20.99
479Cystic kidney diseaseEnrichmentPKD10.99
480Primary hyperaldosteronismEnrichmentTP530.99
481Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD30.99
482Renal agenesis, bilateralEnrichmentWNT9B0.99
483Cat eye syndromeEnrichmentFZD50.95
484Leukemia, chronic lymphocyticEnrichmentTP530.95
485Peters-plus syndromeEnrichmentCOL4A10.95
486Stroke, ischemicEnrichmentNOTCH30.95
487PolymicrogyriaEnrichmentAKT30.95
488Familial colorectal cancerEnrichmentTP530.95
489Migraine with or without aura 1EnrichmentNOTCH30.91
490Pectus excavatumEnrichmentTGFBR10.91
491Myelodysplastic syndromeEnrichmentTP530.91
492Specific learning disabilityEnrichmentMAPK10.91
493Familial isolated dilated cardiomyopathyEnrichmentDSP, RAF10.88
494Congenital nervous system abnormalityEnrichmentCTNNB1, TUSC3, ZEB20.88
495Nervous system diseaseEnrichmentCTNNB1, TUSC3, ZEB20.88
496Cardiac conduction defectEnrichmentDSP0.87
497Juvenile myelomonocytic leukemiaEnrichmentKRAS0.87
498Hereditary breast ovarian cancer syndromeEnrichmentKRAS, TP530.86
499Microphthalmia/coloboma 12EnrichmentFZD50.84
500Nk-cell enteropathyEnrichmentPIK3CB0.84
501MedulloblastomaEnrichmentCTNNB10.81
502Walker-warburg syndromeEnrichmentCOL4A10.81
503Cleft lip/palateEnrichmentCDH10.81
50446,xy partial gonadal dysgenesisEnrichmentSOS10.81
505Isolated macular dystrophyEnrichmentCOL4A50.81
506Coloboma of maculaEnrichmentFZD50.79
507Osteogenesis imperfecta, type iiiEnrichmentWNT10.79
508HydrocephalusEnrichmentFZD30.79
509MyopiaEnrichmentCOL4A40.79
510Anterior segment dysgenesisEnrichmentCOL4A10.79
511Atypical hemolytic-uremic syndromeEnrichmentCOL4A50.79
512Autosomal dominant polycystic kidney diseaseEnrichmentPKD10.79
513Septopreoptic holoprosencephalyEnrichmentDLL10.79
514Midline interhemispheric variant of holoprosencephalyEnrichmentDLL10.79
515Creatine phosphokinase, elevated serumEnrichmentPKD10.76
516Wolff-parkinson-white syndromeEnrichmentJUP0.76
517Isolated elevated serum creatine phosphokinase levelsEnrichmentPKD10.76
518GliosarcomaEnrichmentTP530.76
519Isolated congenital microcephalyEnrichmentOCLN0.76
520Microform holoprosencephalyEnrichmentDLL10.76
521Lobar holoprosencephalyEnrichmentDLL10.76
522MicrocephalyEnrichmentCOL4A1, CTNNB1, MAPK10.75
523Interstitial lung disease 2EnrichmentDSP0.74
524Cardiomyopathy, dilated, 1eEnrichmentPKP20.74
525Giant cell glioblastomaEnrichmentTP530.74
526Alobar holoprosencephalyEnrichmentDLL10.74
527Semilobar holoprosencephalyEnrichmentDLL10.71
528Diffuse large b-cell lymphomaEnrichmentTP530.69
529Macs syndromeEnrichmentWNT7B0.67
530Cardiomyopathy, dilated, 1aEnrichmentDSP0.65
531Cardiomyopathy, dilated, 1gEnrichmentDSP0.64
532MicrophthalmiaEnrichmentWNT7B0.64
533Diamond-blackfan anemia 1EnrichmentTP530.62
534Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.60
535Brugada syndromeEnrichmentPKP20.57
536Long qt syndromeEnrichmentDSP0.51
537Cystic fibrosisEnrichmentTGFB10.50
538Familial hypertrophic cardiomyopathyEnrichmentRAF10.49
539Male infertilityEnrichmentCLDN20.48
540CakutEnrichmentCOL4A10.48
541Genetic steroid-resistant nephrotic syndromeEnrichmentCOL4A30.48
542Diamond-blackfan anemiaEnrichmentTP530.46
543Mitochondrial complex i deficiency, nuclear type 1EnrichmentNUBPL0.44
544Autism spectrum disorderEnrichmentEED, MAP2K10.43
545Distal arthrogryposisEnrichmentFZD30.40
546Hypertrophic cardiomyopathyEnrichmentPKP20.40
547Sensorineural hearing lossEnrichmentCLDN140.36
548ThrombocytopeniaEnrichmentSMAD40.36
549Autosomal dominant non-syndromic intellectual disabilityEnrichmentDLL10.35
550HypertelorismEnrichmentPIK3CA0.33
551Autosomal recessive non-syndromic intellectual disabilityEnrichmentTUSC30.30
552Primary ovarian insufficiencyEnrichmentNOTCH20.30
553Deafness, autosomal recessiveEnrichmentCLDN140.28
554Autosomal recessive nonsyndromic deafnessEnrichmentCLDN140.27
555Rare genetic deafnessEnrichmentCOL4A50.21
556Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCLDN140.18
557Hereditary retinal dystrophyEnrichmentFZD4, JAG1, LRP50.17
558Fundus dystrophyEnrichmentFZD4, JAG1, LRP50.17
559Complex neurodevelopmental disorderEnrichmentPALS10.11

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