CKAP4 signaling pathway map

No Pathway Network information available for CKAP4 signaling pathway map

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

Disorders associated with CKAP4 signaling pathway map SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Colorectal cancerEnrichmentAKT1, ATM, BAX, BRCA1, CCND1, CDH1, CHEK2, CTNNB1, FBXW7, PIK3CA, SMAD4, SRC, TP5310.65
2Breast cancerEnrichmentAKT1, ATM, BRCA1, CASP8, CDH1, CHEK2, ESR1, JUN, PIK3CA, PTEN, TP5310.56
3Ovarian cancerEnrichmentAKT1, ATM, BRCA1, CDH1, CDKN1B, CHEK2, CTNNB1, EGFR, PIK3CA, PTCH1, PTEN, TP5310.50
4Gastric cancerEnrichmentATM, BRCA1, CDH1, CDK4, CHEK2, PIK3CA, PTEN, SMAD4, TP5310.13
5Hereditary breast carcinomaEnrichmentAKT1, ATM, BRCA1, CDH1, CHEK2, ESR1, PIK3CA, PTEN, TP5310.04
6Bladder cancerEnrichmentATM, BRCA1, CTNNB1, EGFR, PIK3CA, PTEN, TP538.53
7Prostate cancerEnrichmentATM, BRCA1, CDH1, CHEK2, PIK3CA, PTEN, TP538.53
8Inherited cancer-predisposing syndromeEnrichmentATM, BRCA1, CDH1, CDK4, CDKN1B, CHEK2, EGFR, PTCH1, PTEN, SMAD4, TP537.95
9Endometrial cancerEnrichmentATM, BRCA1, CDH1, CHEK2, PIK3CA, PTEN7.87
10Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TNFRSF10B, TP536.82
11Gallbladder cancerEnrichmentCTNNB1, PIK3CA, SMAD4, TP536.82
12Lung cancerEnrichmentBRCA1, CASP8, CHEK2, EGFR, FAS, PIK3CA6.68
13Loeys-dietz syndromeEnrichmentSMAD3, TGFB2, TGFBR1, TGFBR26.27
14Adult hepatocellular carcinomaEnrichmentCASP8, CTNNB1, PIK3CA, TP536.27
15Uterine corpus cancerEnrichmentATM, BRCA1, CHEK2, PTEN5.86
16Pancreatic cancerEnrichmentATM, BRCA1, CHEK2, SMAD4, TP535.79
17Hereditary breast ovarian cancer syndromeEnrichmentATM, BRCA1, CHEK2, PTCH1, PTEN, TP535.24
18RhabdomyosarcomaEnrichmentBRCA1, PTCH1, PTEN, TP535.13
19Li-fraumeni syndromeEnrichmentCHEK2, MDM2, TP534.97
20Cowden syndrome 1EnrichmentEGFR, PIK3CA, PTEN4.97
21Breast adenocarcinomaEnrichmentAKT1, PIK3CA, TP534.97
22Hepatocellular carcinomaEnrichmentCASP8, CTNNB1, PIK3CA, TP534.54
23Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD3, SMAD4, TGFB2, TGFBR1, TGFBR24.53
24Cowden syndromeEnrichmentAKT1, PIK3CA, PTEN4.35
25Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR24.20
26Leukemia, chronic lymphocyticEnrichmentATM, CCND1, TP534.20
27Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.17
28Li-fraumeni syndrome 1EnrichmentCHEK2, TP534.17
29SarcomaEnrichmentCHEK2, TP534.17
30Lung non-small cell carcinomaEnrichmentEGFR, MAP2K1, PIK3CA4.06
31MeningiomaEnrichmentAKT1, PIK3CA, PTEN3.94
32Lip and oral cavity carcinomaEnrichmentEGFR, PIK3CA, TP533.94
33Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, CHEK23.83
34Osteogenic sarcomaEnrichmentCHEK2, TP533.70
35Osteoporosis, juvenileEnrichmentDKK1, WNT3A3.70
36Dedifferentiated liposarcomaEnrichmentCDK4, MDM23.70
37Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR23.70
38AdenocarcinomaEnrichmentATM, TP533.70
39Migraine without auraEnrichmentESR1, TNF3.70
40Laryngeal squamous cell carcinomaEnrichmentPTEN, TNFRSF10B3.70
41Bone osteosarcomaEnrichmentCHEK2, TP533.70
42Well-differentiated liposarcomaEnrichmentCDK4, MDM23.70
43Lynch syndromeEnrichmentCHEK2, PIK3CA, TGFBR23.63
44Septopreoptic holoprosencephalyEnrichmentGLI2, PTCH1, SHH3.63
45Midline interhemispheric variant of holoprosencephalyEnrichmentGLI2, PTCH1, SHH3.63
46GliosarcomaEnrichmentATM, EGFR, TP533.55
47Microform holoprosencephalyEnrichmentGLI2, PTCH1, SHH3.55
48Lobar holoprosencephalyEnrichmentGLI2, PTCH1, SHH3.55
49Giant cell glioblastomaEnrichmentATM, EGFR, TP533.47
50Alobar holoprosencephalyEnrichmentGLI2, PTCH1, SHH3.47
51Polydactyly, preaxial iiEnrichmentPTCH1, SHH3.40
52Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K23.40
53Mantle cell lymphomaEnrichmentATM, CCND13.40
54Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K23.40
55Aortic aneurysmEnrichmentSMAD3, TGFBR13.40
56Semilobar holoprosencephalyEnrichmentGLI2, PTCH1, SHH3.39
57Diffuse large b-cell lymphomaEnrichmentCHEK2, PTEN, TP533.32
58Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR23.32
59Macs syndromeEnrichmentPTCH1, SHH, SOX23.25
60Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.18
61HemimegalencephalyEnrichmentPIK3CA, PTEN3.18
62Adrenocortical carcinomaEnrichmentCTNNB1, TP533.00
63Lung squamous cell carcinomaEnrichmentEGFR, PIK3CA3.00
64Esophageal cancerEnrichmentTGFBR2, TP532.86
65Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA2.86
66Arteriovenous malformationEnrichmentMAP2K1, PIK3CA2.63
67Colonic benign neoplasmEnrichmentATM, CHEK22.63
68Lynch syndrome 1EnrichmentATM, CHEK22.54
69Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K1, PIK3CA2.54
70MelanomaEnrichmentCHEK2, PTEN2.54
71Familial colorectal cancer type xEnrichmentATM, CHEK22.45
72Septooptic dysplasiaEnrichmentSHH, SOX22.37
73Neural tube defectsEnrichmentITGB1, PARD32.30
74Multiple sclerosisEnrichmentITGB4, TNFRSF1A2.24
75MedulloblastomaEnrichmentCTNNB1, PTCH12.24
76Lung cancer susceptibility 3EnrichmentEGFR, TP532.24
77Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, MAP2K22.18
78Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A2.08
79Holoprosencephaly 3EnrichmentSHH2.08
80Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.08
81Chiari malformation type iEnrichmentDKK12.08
82MacrodactylyEnrichmentPIK3CA2.08
83Proteus syndromeEnrichmentAKT12.08
84Pseudo-torch syndrome 1EnrichmentOCLN2.08
85Vacterl association with hydrocephalusEnrichmentPTEN2.08
86Caspase 8 deficiencyEnrichmentCASP82.08
87Melanoma, cutaneous malignant 3EnrichmentCDK42.08
88Schilbach-rott syndromeEnrichmentPTCH12.08
89Melorheostosis, isolatedEnrichmentMAP2K12.08
90Megalencephaly, autosomal dominantEnrichmentPIK3CA2.08
91Microphthalmia/coloboma 5EnrichmentSHH2.08
92Uric acid concentration, serum, quantitative trait locus 1EnrichmentABCG22.08
93Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.08
94Cowden syndrome 5EnrichmentPIK3CA2.08
95Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.08
96Culler-jones syndromeEnrichmentGLI22.08
97Accelerated tumor formationEnrichmentMDM22.08
98Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.08
99Cerebral cavernous malformations 4EnrichmentPIK3CA2.08
100Noonan syndrome 13EnrichmentMAPK12.08
101Lessel-kubisch syndromeEnrichmentMDM22.08
102Bone marrow failure syndrome 5EnrichmentTP532.08
103Winchester syndromeEnrichmentMMP142.08
104Diarrhea 10, protein-losing enteropathy typeEnrichmentPLVAP2.08
105Papilloma of choroid plexusEnrichmentTP532.08
106Basal cell carcinoma 7EnrichmentTP532.08
107Anaplastic thyroid carcinomaEnrichmentTP532.08
108Infant-type hemispheric gliomaEnrichmentBRCA12.08
109Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.08
110Papillary tumor of the pineal regionEnrichmentPTEN2.08
111Tumor predisposition syndrome 4EnrichmentCHEK22.08
112Camurati-engelmann disease 2EnrichmentTGFB22.08
113Hemifacial myohyperplasiaEnrichmentPIK3CA2.08
114Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.08
115MelorheostosisEnrichmentMAP2K12.08
116Neuroendocrine tumorEnrichmentCDKN1B2.08
117Holoprosencephaly 9EnrichmentGLI22.08
118Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.08
119Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R2.08
120Immunodeficiency 31aEnrichmentSTAT12.08
121Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R2.08
122Multiple sclerosis 5EnrichmentTNFRSF1A2.08
123Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.08
124Cowden syndrome 6EnrichmentAKT12.08
125Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R2.08
126Hypogonadotropic hypogonadism 19 with or without anosmiaEnrichmentDUSP62.08
127Endometrial serous adenocarcinomaEnrichmentATM2.08
128Immunodeficiency 31bEnrichmentSTAT12.08
129Glioma susceptibility 2EnrichmentPTEN2.08
130Macular dystrophy, patterned, 3EnrichmentMAPKAPK32.08
131Ductal carcinoma in situEnrichmentTP532.08
132Blood group, junior systemEnrichmentABCG22.08
133Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A2.08
134Thrombocytopenia 6EnrichmentSRC2.08
135LeiomyosarcomaEnrichmentCHEK22.08
136Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.08
137Thyroid gland undifferentiated carcinomaEnrichmentTP532.08
138Tufted angioma of skinEnrichmentKDR2.08
139Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.08
140Developmental delay, hypotonia, and impaired languageEnrichmentFBXW72.08
141Adenoid ameloblastomaEnrichmentCTNNB12.08
142Heritable thoracic aortic diseaseEnrichmentSMAD42.08
143Skin fragility-woolly hair-palmoplantar keratoderma syndromeEnrichmentDSP2.08
144HypospadiasEnrichmentPIK3CA2.08
145Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.08
146Perrault syndrome 7EnrichmentDAP32.08
147Breast lobular carcinomaEnrichmentCDH12.08
148B-cell non-hodgkin lymphomaEnrichmentATM2.08
149Choroid plexus cancerEnrichmentTP532.08
150Rare venous malformationEnrichmentPIK3CA2.08
151Turner syndromeEnrichmentPTCH12.08
152Diaphragmatic eventrationEnrichmentPIK3CA2.08
153Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.08
154Pleomorphic xanthoastrocytomaEnrichmentTP532.08
155Rare combined vascular malformationEnrichmentPIK3CA2.08
156Cavernous lymphangiomaEnrichmentPIK3CA2.08
157Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.08
158Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.08
159Monosomy 9q22.3EnrichmentPTCH12.08
160Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeEnrichmentGLI22.08
161Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.08
162Premature agingEnrichmentVIM2.08
163Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.08
164Eccrine angiomatous hamartomaEnrichmentPIK3CA2.08
165Macrodactyly of toeEnrichmentPIK3CA2.08
166Microcystic stromal tumorEnrichmentCTNNB12.08
167Primary peritoneal carcinomaEnrichmentBRCA12.08
168Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndromeEnrichmentSHH2.08
169Polycystic liver diseaseEnrichmentCTNNB1, DKK32.07
170Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, DKK32.07
171Behcet syndromeEnrichmentFAS, TNFRSF1A1.98
172Myeloma, multipleEnrichmentATM, CCND1, TP531.96
173HepatoblastomaEnrichmentCTNNB1, TP531.89
174MicrophthalmiaEnrichmentPTCH1, SOX21.85
175Noonan syndrome 1EnrichmentMAP2K1, MAP2K21.82
176MalariaEnrichmentMAPKAPK3, TNF1.82
177Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.78
178Blepharocheilodontic syndrome 1EnrichmentCDH11.78
179Burkitt lymphomaEnrichmentMYC1.78
180Myhre syndromeEnrichmentSMAD41.78
181Adrenocortical carcinoma, hereditaryEnrichmentTP531.78
182Camurati-engelmann disease 1EnrichmentTGFB11.78
183Robinow-sorauf syndromeEnrichmentTWIST11.78
184Kyphomelic dysplasiaEnrichmentCCN21.78
185Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.78
186Arrhythmogenic right ventricular dysplasia, familial, 8EnrichmentDSP1.78
187Grange syndromeEnrichmentDAP31.78
188Quebec platelet disorderEnrichmentPLAU1.78
189Cervical cancerEnrichmentTP531.78
190Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.78
191Microvascular complications of diabetes 5EnrichmentTGFBR21.78
192Keratosis, seborrheicEnrichmentPIK3CA1.78
193Solitary median maxillary central incisorEnrichmentSHH1.78
194White-sutton syndromeEnrichmentGLI21.78
195Angioma, tuftedEnrichmentKDR1.78
196Noonan syndrome 8EnrichmentPIK3CA1.78
197Lymphoma, hodgkin, classicEnrichmentTP531.78
198Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.78
199Keratosis palmoplantaris striata iiEnrichmentDSP1.78
200Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.78
201Loeys-dietz syndrome 3EnrichmentSMAD31.78
202Immunodeficiency 31cEnrichmentSTAT11.78
203Congenital heart defects, multiple types, 3EnrichmentCHEK21.78
204Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN21.78
205Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisEnrichmentDSP1.78
206Sweeney-cox syndromeEnrichmentTWIST11.78
207Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.78
208Fanconi anemia, complementation group sEnrichmentBRCA11.78
209Cardiac valvular dysplasia, x-linkedEnrichmentATM1.78
210Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.78
211Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.78
212Pancreatic cancer 4EnrichmentBRCA11.78
213Immunodeficiency 127EnrichmentTNF1.78
214Childhood hepatocellular carcinomaEnrichmentCTNNB11.78
215Rela fusion-positive ependymomaEnrichmentRELA1.78
216Recessive dystrophic epidermolysis bullosaEnrichmentMMP11.78
217Split hand-foot malformationEnrichmentLEF11.78
218Progressive familial heart blockEnrichmentDSP1.78
219Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.78
220Cataract 30EnrichmentVIM1.78
221Camurati-engelmann diseaseEnrichmentTGFB11.78
222Congenital fibrosarcomaEnrichmentTP531.78
223Metaphyseal anadysplasia 2EnrichmentMMP91.78
224High grade gliomaEnrichmentATM1.78
225Cardiomyopathy, dilated, with woolly hair and keratodermaEnrichmentDSP1.78
226Loeys-dietz syndrome 4EnrichmentTGFB21.78
227Megalencephaly-polydactyly syndromeEnrichmentMYCN1.78
228Cervix carcinomaEnrichmentTP531.78
229Hodgkin's lymphomaEnrichmentTP531.78
230T-cell prolymphocytic leukemiaEnrichmentATM1.78
231Inflammatory breast carcinomaEnrichmentBRCA11.78
232Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.78
233Metaphyseal anadysplasiaEnrichmentMMP91.78
234Peritoneum cancerEnrichmentBRCA11.78
235Intermittent hydrarthrosisEnrichmentTNFRSF1A1.78
236Bilateral breast cancerEnrichmentBRCA11.78
237Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentITGB41.78
238Vacterl with hydrocephalusEnrichmentPTEN1.78
239TeratomaEnrichmentCTNNB11.78
240Familial retinoblastomaEnrichmentMYCN1.78
241Non-syndromic sagittal craniosynostosisEnrichmentTWIST11.78
242Common variable immunodeficiency 12EnrichmentNFKB11.78
243Juvenile polyposis of infancyEnrichmentPTEN1.78
244Isolated radial hemimeliaEnrichmentSHH1.78
245Pleomorphic rhabdomyosarcomaEnrichmentTP531.78
246Tafro syndromeEnrichmentMAP2K21.78
247RasopathyEnrichmentMAP2K1, MAP2K21.71
248Desmoid disease, hereditaryEnrichmentCTNNB11.61
249Craniosynostosis 1EnrichmentTWIST11.61
250RetinoblastomaEnrichmentMYCN1.61
251Ataxia-telangiectasiaEnrichmentATM1.61
252Juvenile polyposis syndromeEnrichmentSMAD41.61
253Polycythemia veraEnrichmentATM1.61
254Pompe disease, infantile-onsetEnrichmentPIK3CA1.61
255Syndactyly, type ivEnrichmentSHH1.61
256Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP141.61
257Langerhans cell histiocytosisEnrichmentMAP2K11.61
258Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB11.61
259Psoriatic arthritisEnrichmentTNF1.61
260Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB11.61
261Nasopharyngeal carcinomaEnrichmentTP531.61
262Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA1.61
263Epidermolysis bullosa, lethal acantholyticEnrichmentDSP1.61
264Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.61
265Estrogen resistanceEnrichmentESR11.61
266Holoprosencephaly 7EnrichmentPTCH11.61
267Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.61
268Anus, imperforateEnrichmentCTNNB11.61
269Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-igeEnrichmentDSP1.61
270Exudative vitreoretinopathy 7EnrichmentCTNNB11.61
271Woolly hair-skin fragility syndromeEnrichmentDSP1.61
272Bacteremia 2EnrichmentMAPKAPK31.61
273Koolen-de vries syndromeEnrichmentATM1.61
274Desmoid tumorEnrichmentCTNNB11.61
275High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.61
276Keratosis palmoplantaris striataEnrichmentDSP1.61
277Atypical teratoid rhabdoid tumorEnrichmentTP531.61
278Anaplastic astrocytomaEnrichmentTP531.61
279Hypoplastic or aplastic tibia with polydactylyEnrichmentSHH1.61
280Squamous cell carcinomaEnrichmentTP531.61
281T-cell acute lymphoblastic leukemiaEnrichmentBAX1.61
282Intraocular pressure quantitative trait locusEnrichmentZEB11.61
283Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.61
284KeratoacanthomaEnrichmentPIK3CA1.61
285Vogt-koyanagi-harada diseaseEnrichmentFAS1.61
286Cystic fibrosisEnrichmentMIF, TGFB11.54
287Connective tissue diseaseEnrichmentSMAD3, TGFBR21.54
288Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH11.49
289Small cell cancer of the lungEnrichmentTP531.49
290Microphthalmia, syndromic 3EnrichmentSOX21.49
291SchizencephalyEnrichmentSHH1.49
292Thyroid cancer, nonmedullary, 1EnrichmentTP531.49
293Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA11.49
294Autoimmune lymphoproliferative syndromeEnrichmentFAS1.49
295Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.49
296Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA1.49
297Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.49
298Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.49
299Saethre-chotzen syndromeEnrichmentTWIST11.49
300PilomatrixomaEnrichmentCTNNB11.49
301CholangiocarcinomaEnrichmentBRCA11.49
302Alazami syndromeEnrichmentCTNNB11.49
303Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.49
304Lung sarcomatoid carcinomaEnrichmentTP531.49
305Cerebrovascular diseaseEnrichmentPIK3CA1.49
306Embryonal rhabdomyosarcomaEnrichmentTP531.49
307CraniopharyngiomaEnrichmentCTNNB11.49
308TuberculosisEnrichmentMAPKAPK31.49
309Corneal dystrophyEnrichmentZEB11.49
310Familial cerebral cavernous malformationsEnrichmentPIK3CA1.49
311Hemoglobin c diseaseEnrichmentCHEK21.49
312Cerebral malariaEnrichmentTNF1.49
313Non-syndromic bicoronal craniosynostosisEnrichmentTWIST11.49
314Primary hyperparathyroidismEnrichmentCDKN1B1.49
315Systemic-onset juvenile idiopathic arthritisEnrichmentMIF1.49
316GliomaEnrichmentPTEN1.49
317Oculomotor apraxiaEnrichmentATM1.49
318Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.49
319Capillary malformations, congenitalEnrichmentPIK3CA1.39
320Alzheimer disease 2EnrichmentPLAU1.39
321Feingold syndrome 1EnrichmentMYCN1.39
322Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB41.39
323Exudative vitreoretinopathy 1EnrichmentCTNNB11.39
324Von hippel-lindau syndromeEnrichmentCCND11.39
325Rhabdomyosarcoma 2EnrichmentTP531.39
326Macrocephaly/autism syndromeEnrichmentPTEN1.39
327Rheumatoid arthritis, systemic juvenileEnrichmentMIF1.39
328Breast-ovarian cancer, familial 2EnrichmentBRCA11.39
329Fuchs' endothelial dystrophyEnrichmentZEB11.39
330Pervasive developmental disorderEnrichmentFBXW71.39
331LymphomaEnrichmentTP531.39
332Cardiac arrestEnrichmentDSP1.39
333Congenital diarrhea 7 with exudative enteropathyEnrichmentPLVAP1.39
334GlioblastomaEnrichmentATM1.39
335HemangiomaEnrichmentPTEN1.39
336Histiocytoid hemangiomaEnrichmentVIM1.39
337Aplasia cutis congenitaEnrichmentITGB41.39
338Vascular dementiaEnrichmentTNF1.39
339Diffuse cutaneous systemic sclerosisEnrichmentCCN21.39
340Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.39
341Rare pervasive developmental disorderEnrichmentFBXW71.39
342Atrial septal defect 1EnrichmentTGFB21.31
343Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.31
344Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB11.31
345Basal cell nevus syndrome 1EnrichmentPTCH11.31
346Weyers acrofacial dysostosisEnrichmentCTNNB11.31
347Epidermolysis bullosa, junctional 1a, intermediateEnrichmentITGB41.31
348Split-hand/foot malformation 1EnrichmentLEF11.31
349Hemihyperplasia, isolatedEnrichmentPIK3CA1.31
350Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGB41.31
351Wilms tumor 5EnrichmentCHEK21.31
352Hemangioma, capillary infantileEnrichmentKDR1.31
353Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.31
354Basal cell carcinoma 1EnrichmentPTCH11.31
355Junctional epidermolysis bullosa non-herlitz typeEnrichmentITGB41.31
356Clear cell renal cell carcinomaEnrichmentATM1.31
357Chronic mucocutaneous candidiasisEnrichmentSTAT11.31
358Limited sclerodermaEnrichmentCCN21.31
359Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.31
360Classic ehlers-danlos syndromeEnrichmentTGFBR11.31
361Inherited arrhythmogenic cardiomyopathyEnrichmentDSP1.31
362Cleft lip with or without cleft palateEnrichmentCDH11.31
363Nevus, epidermalEnrichmentPIK3CA1.25
364Multiple endocrine neoplasia, type iEnrichmentCDKN1B1.25
365Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.25
366MyelofibrosisEnrichmentSRC1.25
367Renal cell carcinoma, papillary, 1EnrichmentATM1.25
368Essential thrombocythemiaEnrichmentTP531.25
369Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.25
370Common variable immunodeficiencyEnrichmentNFKB11.25
371Follicular thyroid carcinomaEnrichmentPTEN1.25
372Epidermolysis bullosa simplexEnrichmentITGB41.25
373Congenital hydrocephalusEnrichmentPTCH11.25
374Overgrowth syndromeEnrichmentPTCH11.25
375B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.25
376ThrombocytopeniaEnrichmentSMAD4, SRC1.22
377Glioma susceptibility 1EnrichmentTP531.19
378Lymphoma, non-hodgkin, familialEnrichmentTP531.19
379Exudative vitreoretinopathyEnrichmentCTNNB11.19
380NeuroblastomaEnrichmentMYCN1.19
381MyocarditisEnrichmentDSP1.19
382Combined pituitary hormone deficiencyEnrichmentGLI21.19
383Charge syndromeEnrichmentTNFRSF1A1.14
384Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentDSP1.14
385Junctional epidermolysis bullosaEnrichmentITGB41.14
386Primary hyperaldosteronismEnrichmentTP531.14
387Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentDSP1.14
388Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.14
389Cataract 30, multiple typesEnrichmentVIM1.10
390Ciliary dyskinesia, primary, 3EnrichmentNFKB11.10
391Familial colorectal cancerEnrichmentTP531.10
392Primary ovarian insufficiencyEnrichmentCHEK2, KDR1.07
393Migraine with or without aura 1EnrichmentESR11.06
394Pectus excavatumEnrichmentTGFBR11.06
395Immune deficiency diseaseEnrichmentATM1.06
396AsthmaEnrichmentTNF1.06
397Meningioma, familialEnrichmentPTEN1.06
398Myelodysplastic syndromeEnrichmentTP531.06
399NanophthalmosEnrichmentSOX21.06
400Specific learning disabilityEnrichmentMAPK11.06
401Cardiac conduction defectEnrichmentDSP1.02
402Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentDSP1.02
403Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentDSP1.02
404Aortic valve disease 1EnrichmentDSP0.99
405Alzheimer's diseaseEnrichmentTNF0.99
406Nk-cell enteropathyEnrichmentCHEK20.99
407OsteoporosisEnrichmentSRC0.96
408Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.96
409Periventricular nodular heterotopiaEnrichmentBRCA10.96
410Cleft lip/palateEnrichmentCDH10.96
411Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentDSP0.96
412Renal cell carcinoma, nonpapillaryEnrichmentATM0.93
413Polydactyly, postaxial, type a1EnrichmentPTCH10.93
414Wilms tumor 1EnrichmentCHEK20.93
415Perrault syndrome 1EnrichmentDAP30.91
416Arrhythmogenic right ventricular cardiomyopathyEnrichmentDSP0.91
417Isolated congenital microcephalyEnrichmentOCLN0.91
418Alzheimer disease, familial, 1EnrichmentPLAU0.88
419Melanoma, cutaneous malignant 1EnrichmentCDK40.88
420Interstitial lung disease 2EnrichmentDSP0.88
421Heart, malformation ofEnrichmentMAPK10.86
422Normosmic congenital hypogonadotropic hypogonadismEnrichmentDUSP60.86
423Arteriovenous malformations of the brainEnrichmentEGFR0.84
424CraniosynostosisEnrichmentGLI20.82
425Cardiomyopathy, dilated, 1aEnrichmentDSP0.80
426Cardiomyopathy, dilated, 1gEnrichmentDSP0.78
427Myocardial infarctionEnrichmentESR10.78
428Skin diseaseEnrichmentITGB40.78
429Diamond-blackfan anemia 1EnrichmentTP530.76
430Kallmann syndromeEnrichmentDUSP60.76
431Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.76
432Autoinflammatory diseaseEnrichmentTNFRSF1A0.74
433Tetralogy of fallotEnrichmentKDR0.71
434Congenital nervous system abnormalityEnrichmentCTNNB1, PTEN0.66
435Nervous system diseaseEnrichmentCTNNB1, PTEN0.66
436Long qt syndrome 1EnrichmentDSP0.66
437Long qt syndromeEnrichmentDSP0.64
438Autism spectrum disorderEnrichmentMAP2K1, PTEN0.64
439Fanconi anemia, complementation group aEnrichmentBRCA10.60
440Left ventricular noncompactionEnrichmentDSP0.60
441Diamond-blackfan anemiaEnrichmentTP530.59
442MicrocephalyEnrichmentCTNNB1, MAPK10.57
443Systemic lupus erythematosusEnrichmentTNF0.56
444Leukemia, acute myeloidEnrichmentTP530.55
445HypertelorismEnrichmentPIK3CA0.46
446Familial isolated dilated cardiomyopathyEnrichmentDSP0.45
447Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentGLI20.43
448AutismEnrichmentSHH0.35
449Dilated cardiomyopathyEnrichmentDSP0.31

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