WNT Signaling

No Pathway Network information available for WNT Signaling

Pathways in the WNT Signaling SuperPath

#NameSourceGenes
1WNT SignalingQIAGEN
(see all 250) (see less)

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

Disorders associated with WNT Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Osteoporosis, juvenileEnrichmentDKK1, WNT1, WNT3A5.21
2Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH1, CTNNA1, MAP3K64.61
3Robinow syndrome, autosomal dominant 1EnrichmentDVL1, FZD2, WNT5A4.61
4Autosomal dominant robinow syndromeEnrichmentDVL1, FZD2, WNT5A4.61
5Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP54.22
6Robinow syndrome, autosomal recessive 1EnrichmentDVL1, FZD2, WNT5A4.22
7Autosomal recessive robinow syndromeEnrichmentDVL1, FZD2, WNT5A3.93
8Polycystic liver diseaseEnrichmentCTNNB1, HNF4A, LRP5, LRP63.65
9Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, HNF4A, LRP5, LRP63.65
10Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CAMK2B, CDH15, GNB1, PPP3CA, TCF43.53
11Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP53.49
12Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB93.47
13Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF1A, HNF4A3.47
14Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB1, TP533.32
15Primary hyperaldosteronismEnrichmentCDH23, GNAS, TP533.32
16Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, TP533.20
17Desmoid disease, hereditaryEnrichmentAPC, CTNNB13.00
18Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB83.00
19Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentHNF1B, WNT43.00
20Desmoid tumorEnrichmentAPC, CTNNB13.00
21Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB83.00
22Chromophobe renal cell carcinomaEnrichmentHNF1A, HNF1B3.00
23Intraocular pressure quantitative trait locusEnrichmentCREBBP, ZEB13.00
24Anastomosing haemangiomaEnrichmentGNA11, GNA143.00
25Colorectal cancerEnrichmentAPC, CCND1, CDH1, CTNNA1, CTNNB1, FZD3, TP532.96
26Auriculocondylar syndrome 1EnrichmentGNAI3, PLCB42.70
27Maturity-onset diabetes of the young, type 3EnrichmentHNF1A, HNF4A2.70
28Achromatopsia 4EnrichmentGNAI3, GNAT22.70
29Retinopathy of prematurityEnrichmentFZD4, LRP52.70
30CraniopharyngiomaEnrichmentAPC, CTNNB12.70
31Breast cancerEnrichmentAPC, CDH1, GNG3, HNF1A, JUN, TP532.59
32Ovarian cancerEnrichmentAPC, CDH1, CTNNB1, HNF1A, HNF1B, MAP3K1, TP532.58
33Robinow syndrome, autosomal dominant 2EnrichmentDVL1, FZD22.49
34Fuchs' endothelial dystrophyEnrichmentTCF4, ZEB12.49
35Melanoma, uvealEnrichmentGNA11, PLCB42.32
36Adrenocortical carcinomaEnrichmentCTNNB1, TP532.32
37Maturity-onset diabetes of the youngEnrichmentHNF1A, HNF1B, HNF4A2.25
38CraniosynostosisEnrichmentCTNNA1, TCF12, TCF202.25
39HepatoblastomaEnrichmentAPC, CTNNB1, TP532.19
40Gallbladder cancerEnrichmentCTNNB1, TP532.18
41Type 2 diabetes mellitusEnrichmentHNF1A, HNF1B, HNF4A, TCF7L22.14
42Tooth agenesisEnrichmentLRP6, WNT10A, WNT10B2.13
43Spastic paraplegia 4, autosomal dominantEnrichmentGNAS, TCF42.06
44Isolated split hand-split foot malformationEnrichmentBTRC, WNT10B2.06
45Leukemia, chronic lymphocyticEnrichmentCCND1, TP531.86
46Prostate cancerEnrichmentCDH1, HNF1B, TP531.80
47Myelodysplastic syndromeEnrichmentGNB1, TP531.78
48Chiari malformation type iEnrichmentDKK11.73
49Hypocalciuric hypercalcemia, familial, type iiEnrichmentGNA111.73
50Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.73
51Hepatic adenomas, familialEnrichmentHNF1A1.73
52Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.73
53Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.73
54Mullerian aplasia and hyperandrogenismEnrichmentWNT41.73
55Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndromeEnrichmentCDH31.73
56Elsahy-waters syndromeEnrichmentCDH111.73
57Bone mineral density quantitative trait locus 1EnrichmentLRP51.73
58Exudative vitreoretinopathy 4EnrichmentLRP51.73
59Pseudohypoparathyroidism, type icEnrichmentGNAS1.73
60Macular dystrophy, patterned, 2EnrichmentCTNNA11.73
6146,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.73
62Intellectual developmental disorder, autosomal dominant 3EnrichmentCDH151.73
63Mitral valve prolapse 2EnrichmentDCHS11.73
64Osseous heteroplasia, progressiveEnrichmentGNAS1.73
65Omodysplasia 2EnrichmentFZD21.73
66Nail disorder, nonsyndromic congenital, 3EnrichmentPLCD11.73
67Prostate cancer, hereditary, 11EnrichmentHNF1B1.73
68Split-hand/foot malformation 6EnrichmentWNT10B1.73
69Tooth agenesis, selective, 7EnrichmentLRP61.73
70Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A1.73
71Caudal duplication anomalyEnrichmentAXIN11.73
72Advanced sleep phase syndrome, familial, 2EnrichmentCSNK1D1.73
73Tooth agenesis, selective, 8EnrichmentWNT10B1.73
74Fetal encasement syndromeEnrichmentCHUK1.73
75Ectodermal dysplasia 13, hair/tooth typeEnrichmentKREMEN11.73
76Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.73
7746,xy sex reversal 6EnrichmentMAP3K11.73
78Frontometaphyseal dysplasia 2EnrichmentMAP3K71.73
79Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD1.73
80Ventricular tachycardia, familialEnrichmentGNAI21.73
81Wilms tumor 6EnrichmentREST1.73
82Acth-independent macronodular adrenal hyperplasia 1EnrichmentGNAS1.73
83Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.73
84Exudative vitreoretinopathy 8EnrichmentLRP61.73
85Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.73
86Teebi hypertelorism syndrome 2EnrichmentCDH111.73
87Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.73
88Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.73
89Pituitary adenoma 3, multiple typesEnrichmentGNAS1.73
90Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.73
91Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.73
92Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.73
93Intellectual developmental disorder, autosomal dominant 54EnrichmentCAMK2B1.73
94Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.73
95Bone marrow failure syndrome 5EnrichmentTP531.73
96Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG11.73
97Diarrhea 9EnrichmentWNT2B1.73
98Papilloma of choroid plexusEnrichmentTP531.73
99Auriculocondylar syndrome 2aEnrichmentPLCB41.73
100Basal cell carcinoma 7EnrichmentTP531.73
101Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH21.73
102Anaplastic thyroid carcinomaEnrichmentTP531.73
103Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalitiesEnrichmentGNAI11.73
104Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.73
105Coronary artery disease, autosomal dominant 2EnrichmentLRP61.73
106Bone mineral density quantitative trait locus 16EnrichmentWNT11.73
107Developmental and epileptic encephalopathy 17EnrichmentGNAO11.73
108Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.73
109Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.73
110Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.73
111HypotrichosisEnrichmentCDH31.73
112Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.73
113Spinocerebellar ataxia 14EnrichmentPRKCG1.73
114Santos syndromeEnrichmentWNT7A1.73
115Night blindness, congenital stationary, autosomal dominant 3EnrichmentGNAT11.73
116Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH21.73
117Deafness, autosomal dominant 27EnrichmentREST1.73
118Dystonia 25EnrichmentGNAL1.73
119Craniosynostosis 3EnrichmentTCF121.73
120Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG21.73
121Night blindness, congenital stationary, type 1gEnrichmentGNAT11.73
122Hypocalcemia, autosomal dominant 2EnrichmentGNA111.73
123Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB91.73
124Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.73
125Microphthalmia/coloboma 11EnrichmentFZD51.73
126Type 1 diabetes mellitus 20EnrichmentHNF1A1.73
127Disorders of gnas inactivationEnrichmentGNAS1.73
128Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF41.73
129Ductal carcinoma in situEnrichmentTP531.73
130Familial cold autoinflammatory syndrome 3EnrichmentPLCG21.73
131Congenital heart defects and ectodermal dysplasiaEnrichmentPRKD11.73
132Fibromatosis, gingival, 5EnrichmentREST1.73
133Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.73
134Ovarian small cell carcinomaEnrichmentSMARCA41.73
135Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.73
136Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.73
137Bartsocas-papas syndrome 2EnrichmentCHUK1.73
138Sick sinus syndrome 4EnrichmentGNB21.73
139Menke-hennekam syndrome 1EnrichmentCREBBP1.73
140Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.73
141Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.73
142Neurodevelopmental disorder with neuromuscular and skeletal abnormalitiesEnrichmentNRCAM1.73
143Thyroid gland undifferentiated carcinomaEnrichmentTP531.73
144Auriculocondylar syndrome 2bEnrichmentPLCB41.73
145Developmental delay with variable intellectual impairment and behavioral abnormalitiesEnrichmentTCF201.73
146Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.73
147Intellectual developmental disorder, autosomal dominant 59EnrichmentCAMK2G1.73
148Tsh producing pituitary tumorEnrichmentCDH231.73
149Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP531.73
150Attention deficit-hyperactivity disorder 8EnrichmentCDH21.73
151Adenoid ameloblastomaEnrichmentCTNNB11.73
152Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.73
153Lrp5-related primary osteoporosisEnrichmentLRP51.73
154Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP531.73
155Immunodeficiency 112EnrichmentMAP3K141.73
156Breast lobular carcinomaEnrichmentCDH11.73
157Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A1.73
158Cerebral cavernous malformations 5EnrichmentMAP3K31.73
159Choroid plexus cancerEnrichmentTP531.73
160Familial adenomatous polyposisEnrichmentAPC1.73
161Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK1.73
162Menke-hennekam syndromeEnrichmentCREBBP1.73
163Pleomorphic xanthoastrocytomaEnrichmentTP531.73
164Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.73
165Monostotic fibrous dysplasiaEnrichmentGNAS1.73
166Gardner syndromeEnrichmentAPC1.73
167Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.73
168Medullary sponge kidneyEnrichmentHNF1B1.73
169Gnao1-related disorderEnrichmentGNAO11.73
1705q22 microdeletion syndromeEnrichmentAPC1.73
171Attenuated familial adenomatous polyposisEnrichmentAPC1.73
172Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.73
173Renal dysplasia, bilateralEnrichmentHNF1B1.73
174Premature agingEnrichmentVIM1.73
175Phakomatosis cesiomarmorataEnrichmentGNA111.73
176Unilateral multicystic dysplastic kidneyEnrichmentHNF1B1.73
177Malignant epithelial tumor of salivary glandsEnrichmentPRKD11.73
178Verrucous hemangiomaEnrichmentMAP3K31.73
179Kaposiform hemangioendotheliomaEnrichmentGNA141.73
180Renal dysplasia, unilateralEnrichmentHNF1B1.73
181Mazabraud syndromeEnrichmentGNAS1.73
182Inflammatory bowel disease-recurrent sinopulmonary infections syndromeEnrichmentNFAT51.73
183Nik deficiencyEnrichmentMAP3K141.73
184Microcystic stromal tumorEnrichmentCTNNB11.73
185Myeloma, multipleEnrichmentCCND1, CREBBP, TCF3, TP531.71
186DystoniaEnrichmentCAMK2B, GNAL, GNB11.58
187MicrocephalyEnrichmentCAMK2B, CTNNB1, GNAO1, GNB1, PSMC3, TCF41.58
188OsteoporosisEnrichmentLRP5, WNT11.58
189MedulloblastomaEnrichmentAPC, CTNNB11.58
190Renal cell carcinoma, nonpapillaryEnrichmentHNF1A, HNF1B1.52
191Corpus callosum, agenesis ofEnrichmentCDH2, CREBBP1.52
192Isolated corpus callosum agenesisEnrichmentCDH2, CREBBP1.52
193Rare genetic intellectual disabilityEnrichmentCREBBP, GNAO11.52
194Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH2, CREBBP1.52
195Tubulointerstitial kidney disease, autosomal dominant 1EnrichmentHNF1B1.44
196Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.44
197Blepharocheilodontic syndrome 1EnrichmentCDH11.44
198Burkitt lymphomaEnrichmentMYC1.44
199Renal cysts and diabetes syndromeEnrichmentHNF1B1.44
200Sveinsson chorioretinal atrophyEnrichmentTEAD11.44
201Congenital anomalies of kidney and urinary tract 2EnrichmentHNF1B1.44
202Mitral valve prolapse 1EnrichmentDCHS11.44
203Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.44
204Fibromatosis, gingival, 1EnrichmentREST1.44
205Pseudohypoparathyroidism, type iaEnrichmentGNAS1.44
206Tooth agenesis, selective, 4EnrichmentWNT10A1.44
207Adrenocortical carcinoma, hereditaryEnrichmentTP531.44
208Van buchem diseaseEnrichmentLRP51.44
209Pituitary adenoma 4, acth-secretingEnrichmentGNAI21.44
210Schopf-schulz-passarge syndromeEnrichmentWNT10A1.44
211Cutis marmorata telangiectatica congenitaEnrichmentGNA111.44
212Thumb deformityEnrichmentCREBBP1.44
213Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.44
214Bladder exstrophy and epispadias complexEnrichmentWNT31.44
215Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.44
216Van maldergem syndrome 1EnrichmentDCHS11.44
217Hypotrichosis, congenital, with juvenile macular dystrophyEnrichmentCDH31.44
218Cervical cancerEnrichmentTP531.44
219Odontoonychodermal dysplasiaEnrichmentWNT10A1.44
220Tetraamelia syndrome 1EnrichmentWNT31.44
221Histiocytoma, angiomatoid fibrousEnrichmentCREB11.44
222Pigmented nodular adrenocortical disease, primary, 1EnrichmentGNAS1.44
223Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisEnrichmentCLDN11.44
224PseudopseudohypoparathyroidismEnrichmentGNAS1.44
225Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.44
226Osteogenesis imperfecta, type xvEnrichmentWNT11.44
227Robinow syndrome, autosomal dominant 3EnrichmentFZD21.44
228Angioma, tuftedEnrichmentGNA141.44
229Night blindness, congenital stationary, type 1hEnrichmentGNB31.44
230Deafness, autosomal recessive 84aEnrichmentCDH231.44
231Spermatogenic failure 17EnrichmentPLCZ11.44
232Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.44
233Lymphoma, hodgkin, classicEnrichmentTP531.44
234Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB101.44
235Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.44
236Immunodeficiency 121 with autoinflammationEnrichmentPSMB101.44
237Birk-aharoni syndromeEnrichmentPSMC11.44
238Hyperuricemic nephropathy, familial juvenile, 3EnrichmentHNF1B1.44
239Childhood hepatocellular carcinomaEnrichmentCTNNB11.44
240Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.44
241Combined saposin deficiencyEnrichmentCDH231.44
242Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.44
243Split hand-foot malformationEnrichmentLEF11.44
244Autosomal dominant hypocalcemiaEnrichmentGNA111.44
245Cataract 30EnrichmentVIM1.44
246PseudohypoparathyroidismEnrichmentGNAS1.44
247Congenital fibrosarcomaEnrichmentTP531.44
248Li-fraumeni syndrome 1EnrichmentTP531.44
249SarcomaEnrichmentTP531.44
250Ocular melanomaEnrichmentPLCB41.44
251Otosclerosis 12EnrichmentSMARCA41.44
252Coffin-siris syndrome 4EnrichmentSMARCA41.44
253Periampullary adenomaEnrichmentAPC1.44
254Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.44
255Cervix carcinomaEnrichmentTP531.44
256Hodgkin's lymphomaEnrichmentTP531.44
257HypopituitarismEnrichmentGNAI21.44
258Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.44
259Combined psap deficiencyEnrichmentCDH231.44
260Mitochondrial dna depletion syndrome 15EnrichmentTFAM1.44
261Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.44
262B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.44
263Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC21.44
264Acth-independent macronodular adrenal hyperplasiaEnrichmentGNAS1.44
265HyperinsulinismEnrichmentHNF4A1.44
266TeratomaEnrichmentCTNNB11.44
267OsteosclerosisEnrichmentLRP51.44
268Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.44
269B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.44
270Familial isolated pituitary adenomaEnrichmentCDH231.44
271Pleomorphic rhabdomyosarcomaEnrichmentTP531.44
272Cerebral visual impairmentEnrichmentGNB11.44
273Submucosal cleft palateEnrichmentUBB1.44
274Phakomatosis cesioflammeaEnrichmentGNA111.44
275Cleft hard palateEnrichmentUBB1.44
276Cleft palate, isolatedEnrichmentGNB1, SMARCA41.42
277AutismEnrichmentCAMK2G, CREBBP, TCF20, TCF7L21.36
278Gastric cancerEnrichmentAPC, CDH1, TP531.35
279Congenital nervous system abnormalityEnrichmentCAMK2B, CREBBP, CTNNB1, GNAO1, GNB51.33
280Nervous system diseaseEnrichmentCAMK2B, CREBBP, CTNNB1, GNAO1, GNB51.33
281Diffuse large b-cell lymphomaEnrichmentCREBBP, TP531.33
282West syndromeEnrichmentCSNK1E, GNAO1, PLCB11.33
283Hereditary breast carcinomaEnrichmentAPC, CDH1, TP531.33
284Mccune-albright syndromeEnrichmentGNAS1.27
285Uvula, bifidEnrichmentUBB1.27
286Microphthalmia, syndromic 9EnrichmentWNT7B1.27
287Tooth agenesis, selective, 2EnrichmentWNT10A1.27
288Osteopetrosis, autosomal dominant 1EnrichmentLRP51.27
289Osteogenic sarcomaEnrichmentTP531.27
290Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB11.27
291Cleft soft palateEnrichmentUBB1.27
292Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB11.27
293Nasopharyngeal carcinomaEnrichmentTP531.27
294Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentGNA111.27
295Nephrotic syndrome, type 3EnrichmentPLCE11.27
296Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.27
297Cenani-lenz syndactyly syndromeEnrichmentAPC1.27
298Chromosome 17q12 deletion syndromeEnrichmentHNF1B1.27
299Anus, imperforateEnrichmentCTNNB11.27
300Exudative vitreoretinopathy 7EnrichmentCTNNB11.27
301Nephrotic syndrome, type 24EnrichmentDAAM21.27
302Keratoderma-ichthyosis-deafness syndrome, autosomal recessiveEnrichmentHNF1A1.27
303Tethered spinal cord syndromeEnrichmentCREBBP1.27
304High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.27
305Nail diseaseEnrichmentFZD61.27
306Atypical teratoid rhabdoid tumorEnrichmentTP531.27
307Anaplastic astrocytomaEnrichmentTP531.27
308Frontometaphyseal dysplasiaEnrichmentMAP3K71.27
309Squamous cell carcinomaEnrichmentTP531.27
310AdenocarcinomaEnrichmentTP531.27
311Bone osteosarcomaEnrichmentTP531.27
312Butterfly-shaped pigment dystrophyEnrichmentCTNNA11.27
313Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentGNAS1.27
314Tetraamelia syndromeEnrichmentWNT31.27
315Colon adenocarcinomaEnrichmentAPC1.27
316Advanced sleep phase syndromeEnrichmentCSNK1D1.27
317Melanoma of soft tissueEnrichmentCREB11.27
318Thyroid hemiagenesisEnrichmentPSMD31.27
319Apc-associated polyposis conditionsEnrichmentAPC1.27
320Attention deficit-hyperactivity disorderEnrichmentGNB5, TCF201.21
321Brittle bone disorderEnrichmentLRP5, WNT11.18
322Congenital stationary night blindnessEnrichmentGNAT1, GNB31.18
323Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.14
324Small cell cancer of the lungEnrichmentTP531.14
325Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.14
326Thyroid cancer, nonmedullary, 1EnrichmentTP531.14
327Pseudohypoparathyroidism, type ibEnrichmentGNAS1.14
328Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA11.14
329Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.14
330Pitt-hopkins syndromeEnrichmentTCF41.14
331PilomatrixomaEnrichmentCTNNB11.14
332Developmental and epileptic encephalopathy 12EnrichmentPLCB11.14
333Pituitary adenoma 5, multiple typesEnrichmentCDH231.14
334Alazami syndromeEnrichmentCTNNB11.14
335Mantle cell lymphomaEnrichmentCCND11.14
336Lung sarcomatoid carcinomaEnrichmentTP531.14
337Orofacial cleftEnrichmentLRP61.14
338Hereditary ataxiaEnrichmentPRKCG1.14
339Ectodermal dysplasiaEnrichmentWNT10A1.14
340Embryonal rhabdomyosarcomaEnrichmentTP531.14
341ProlactinomaEnrichmentCDH231.14
342Corneal dystrophyEnrichmentZEB11.14
343Eyelid colobomaEnrichmentFZD51.14
344Vacterl associationEnrichmentCDH131.14
345Non-syndromic bicoronal craniosynostosisEnrichmentTCF121.14
346VitreoretinopathyEnrichmentLRP51.14
347Orofacial clefting syndromeEnrichmentLRP61.14
348Clear cell papillary renal cell carcinomaEnrichmentHNF1A1.14
349Gingival fibromatosisEnrichmentREST1.14
350Lens colobomaEnrichmentFZD51.14
351Familial sick sinus syndromeEnrichmentGNB21.14
352Developmental and epileptic encephalopathy 1EnrichmentCSNK1E, GNAO11.11
353Capillary malformations, congenitalEnrichmentGNA111.05
354Vater/vacterl associationEnrichmentCDH131.05
355Von hippel-lindau syndromeEnrichmentCCND11.05
356Norrie diseaseEnrichmentFZD41.05
357Rhabdomyosarcoma 2EnrichmentTP531.05
358Chondrosarcoma, extraskeletal myxoidEnrichmentTCF121.05
359Night blindness, congenital stationary, type 1cEnrichmentGNAT11.05
360Familial adenomatous polyposis 1EnrichmentAPC1.05
361Cholangitis, primary sclerosingEnrichmentTCF41.05
362LymphomaEnrichmentTP531.05
363Persistent hyperplastic primary vitreousEnrichmentFZD41.05
364Histiocytoid hemangiomaEnrichmentVIM1.05
365Acute megakaryocytic leukemiaEnrichmentTP531.05
366Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A1.05
367Coloboma of choroid and retinaEnrichmentFZD51.05
368Inherited cancer-predisposing syndromeEnrichmentAPC, CDH1, CTNNA1, SMARCA4, TP531.01
369Bladder cancerEnrichmentCTNNB1, TP531.00
370Developmental dysplasia of the hip 1EnrichmentPSMC30.98
371Li-fraumeni syndromeEnrichmentTP530.98
372Coloboma of optic nerveEnrichmentFZD50.98
373Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB10.98
374Weyers acrofacial dysostosisEnrichmentCTNNB10.98
375Rubinstein-taybi syndrome 1EnrichmentCREBBP0.98
376Split-hand/foot malformation 1EnrichmentLEF10.98
377Hemihyperplasia, isolatedEnrichmentRHOA0.98
378Type 1 diabetes mellitusEnrichmentHNF1A0.98
379Usher syndrome, type idEnrichmentCDH230.98
380Deafness, autosomal recessive 12EnrichmentCDH230.98
381Renal dysplasia, cysticEnrichmentWNT9B0.98
382Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP0.98
383Renal hypoplasiaEnrichmentWNT9B0.98
384DiarrheaEnrichmentWNT2B0.98
385Patent ductus arteriosusEnrichmentPSMC30.98
386Clear cell renal cell carcinomaEnrichmentHNF1A0.98
387Breast adenocarcinomaEnrichmentTP530.98
388HypertrichosisEnrichmentCREBBP0.98
389Multicystic kidney dysplasiaEnrichmentFZD30.98
390Syndromic rod-cone dystrophyEnrichmentCDH230.98
391Cleft lip with or without cleft palateEnrichmentCDH10.98
392Multicystic dysplastic kidneyEnrichmentFZD30.98
393Esophageal cancerEnrichmentTP530.91
394Meniere diseaseEnrichmentCDH230.91
395Squamous cell carcinoma, head and neckEnrichmentTP530.91
396Coats diseaseEnrichmentFZD40.91
397Usher syndrome, type iiaEnrichmentCDH230.91
398BrachydactylyEnrichmentGNAS0.91
399Essential thrombocythemiaEnrichmentTP530.91
400B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP530.91
401Genetic steroid-resistant nephrotic syndromeEnrichmentDAAM2, PLCE10.89
402Glioma susceptibility 1EnrichmentTP530.86
403Renal hypodysplasia/aplasia 1EnrichmentWNT9B0.86
404Lymphoma, non-hodgkin, familialEnrichmentTP530.86
405Lennox-gastaut syndromeEnrichmentMAPK100.86
406HypothyroidismEnrichmentGNB10.86
407NeuroblastomaEnrichmentSMARCA40.86
408Choreatic diseaseEnrichmentGNAO10.86
409Autism spectrum disorderEnrichmentGNB1, TCF12, TCF20, TCF40.85
410Nephrotic syndrome, type 1EnrichmentPLCE10.81
411Inflammatory bowel disease 1EnrichmentPRKCQ0.81
412Developmental and epileptic encephalopathy 14EnrichmentPLCB10.81
413Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC10.81
414Ventricular septal defectEnrichmentSMARCA40.81
415Colonic benign neoplasmEnrichmentAPC0.81
416Hypotrichosis simplexEnrichmentCDH30.81
417Renal agenesis, bilateralEnrichmentWNT9B0.81
418Cerebral palsyEnrichmentGNB1, SMARCA40.79
419Cat eye syndromeEnrichmentFZD50.77
420Cataract 30, multiple typesEnrichmentVIM0.77
421Omenn syndromeEnrichmentPSMB100.77
422Stroke, ischemicEnrichmentPRKCH0.77
423PolymicrogyriaEnrichmentPSMC30.77
424AchromatopsiaEnrichmentGNAT20.77
425Familial colorectal cancerEnrichmentTP530.77
426Autosomal non-syndromic agammaglobulinemiaEnrichmentTCF30.77
427Pectus excavatumEnrichmentTCF200.73
428Leukemia, acute lymphoblasticEnrichmentGNB10.73
429Usher syndrome type 2EnrichmentCDH230.73
430Atrial heart septal defectEnrichmentSMARCA40.73
43146,xy complete gonadal dysgenesisEnrichmentMAP3K10.73
432Movement diseaseEnrichmentGNAO10.73
433Diabetes mellitusEnrichmentHNF1A0.73
434Interatrial communicationEnrichmentSMARCA40.73
435Complex neurodevelopmental disorderEnrichmentGNB2, NRCAM, TCF20, TCF7L20.71
436EpicanthusEnrichmentTCF40.70
437Digeorge syndromeEnrichmentHNF1A0.70
438Lip and oral cavity carcinomaEnrichmentTP530.70
439Microphthalmia/coloboma 12EnrichmentFZD50.67
440Hypercholesterolemia, familial, 1EnrichmentSMARCA40.67
441Osteogenesis imperfecta, type ivEnrichmentWNT10.67
442Chromosome 1p36 deletion syndromeEnrichmentPRKCZ0.67
443Stereotypic movement disorderEnrichmentTCF40.67
444Chronic kidney diseaseEnrichmentWNT9B0.67
445Cone-rod dystrophy 6EnrichmentGNAT20.64
446Lung cancer susceptibility 3EnrichmentTP530.64
447Heart diseaseEnrichmentCREBBP0.64
448Cleft lip/palateEnrichmentCDH10.64
449Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH20.64
45046,xy partial gonadal dysgenesisEnrichmentMAP3K10.64
451Coloboma of maculaEnrichmentFZD50.61
452Coffin-siris syndrome 1EnrichmentSMARCA40.61
453Wilms tumor 1EnrichmentREST0.61
454Osteogenesis imperfecta, type iiiEnrichmentWNT10.61
455Usher syndrome, type iEnrichmentCDH230.61
456HydrocephalusEnrichmentFZD30.61
457Familial hypercholesterolemiaEnrichmentSMARCA40.61
458RhabdomyosarcomaEnrichmentTP530.59
459GliosarcomaEnrichmentTP530.59
460Hereditary breast ovarian cancer syndromeEnrichmentCTNNA1, TP530.57
461Hypertension, essentialEnrichmentGNB30.57
462Giant cell glioblastomaEnrichmentTP530.57
463Patent foramen ovaleEnrichmentPSMC30.55
464Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.55
465Hereditary retinal dystrophyEnrichmentCDH23, CDH3, CTNNA1, FZD4, GNAT1, GNAT2, LRP50.54
466Fundus dystrophyEnrichmentCDH23, CDH3, CTNNA1, FZD4, GNAT1, GNAT2, LRP50.54
467Arteriovenous malformations of the brainEnrichmentCDH20.53
468Macs syndromeEnrichmentWNT7B0.51
469Focal segmental glomerulosclerosisEnrichmentPLCE10.51
470Cardiomyopathy, dilated, 1aEnrichmentNFATC20.49
471Endometrial cancerEnrichmentCDH10.49
472Myocardial infarctionEnrichmentPSMA60.47
473MicrophthalmiaEnrichmentWNT7B0.47
474Diamond-blackfan anemia 1EnrichmentTP530.46
475Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.46
476Ear malformationEnrichmentCDH230.44
477Cone dystrophyEnrichmentGNAT20.44
478Autoinflammatory diseaseEnrichmentPSMB80.44
479ScoliosisEnrichmentCREBBP0.44
480Pancreatic cancerEnrichmentTP530.43
481Hydrops fetalis, nonimmuneEnrichmentFZD60.42
482Auditory neuropathyEnrichmentCDH20.42
483StrabismusEnrichmentGNB10.40
484Isolated joubert syndromeEnrichmentCBY10.37
485Non-immune hydrops fetalisEnrichmentFZD60.36
486Lung cancerEnrichmentMAP3K80.35
487Usher syndromeEnrichmentCDH230.34
488CakutEnrichmentHNF1B0.33
489Eye diseaseEnrichmentGNAT20.32
490Developmental and epileptic encephalopathyEnrichmentGNAO10.31
491Diamond-blackfan anemiaEnrichmentTP530.31
492Non-syndromic genetic deafnessEnrichmentCDH230.31
493Leukemia, acute myeloidEnrichmentTP530.28
494Benign epilepsy with centrotemporal spikesEnrichmentPLCB10.27
495Distal arthrogryposisEnrichmentFZD30.27
496Nonsyndromic hearing lossEnrichmentCDH230.27
497Centralopathic epilepsyEnrichmentPLCB10.26
498Nephrotic syndromeEnrichmentPLCE10.26
499Sensorineural hearing lossEnrichmentCDH230.23
500Joubert syndrome 1EnrichmentCBY10.22
501Body mass index quantitative trait locus 11EnrichmentGNAS0.22
502Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentREST0.21
503Undetermined early-onset epileptic encephalopathyEnrichmentPPP3CA0.19
504Deafness, autosomal recessiveEnrichmentCDH230.16
505Autosomal recessive nonsyndromic deafnessEnrichmentCDH230.16
506Retinitis pigmentosaEnrichmentCDH23, CDH3, GNAT10.12
507Rare genetic deafnessEnrichmentCDH230.11
508Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCDH230.09

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