Signaling by WNT

No Pathway Network information available for Signaling by WNT

Pathways in the Signaling by WNT SuperPath

#NameSourceGenes
1Signaling by WNTReactome
(see all 316) (see less)
2TCF dependent signaling in response to WNTReactome

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

Disorders associated with Signaling by WNT SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Robinow syndrome, autosomal recessive 1EnrichmentDVL1, DVL3, FZD2, ROR2, WNT5A8.18
2Autosomal recessive robinow syndromeEnrichmentDVL1, DVL3, FZD2, ROR2, WNT5A7.41
3Robinow syndrome, autosomal dominant 1EnrichmentDVL1, DVL3, FZD2, WNT5A7.20
4Autosomal dominant robinow syndromeEnrichmentDVL1, DVL3, FZD2, WNT5A7.20
5Osteoporosis, juvenileEnrichmentDKK1, WNT1, WNT3A5.39
6Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C95.39
7Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, CSNK2A1, CUL3, GNB2, H4C3, H4C5, H4C9, PPP2CA, PSMD12, RAC3, TCF7L2, TNRC6B5.20
8Exudative vitreoretinopathy 1EnrichmentCTNNB1, FZD4, LRP54.40
9Robinow syndrome, autosomal dominant 2EnrichmentDVL1, DVL3, FZD24.40
10Nonsyndromic 46,xx testicular disorders/differences of sex developmentEnrichmentSOX3, SOX9, SRY4.40
11Adrenocortical carcinomaEnrichmentCTNNB1, TERT, ZNRF34.11
12Polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP6, RUVBL13.89
13Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, LRP5, LRP6, RUVBL13.89
14Exudative vitreoretinopathyEnrichmentCTNNB1, FZD4, LRP53.67
15Van buchem diseaseEnrichmentLRP5, SOST3.59
16Osteopathia striata with cranial sclerosisEnrichmentAMER1, CTNNB13.59
17Hyperparathyroidism 1EnrichmentCDC73, MEN13.59
18Robinow syndrome, autosomal dominant 3EnrichmentDVL3, FZD23.59
19Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C33.59
20Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C113.59
21Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.59
22Rare genetic intellectual disabilityEnrichmentCHD8, CREBBP, EP300, GNAO13.49
23Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB1, TERT3.43
24Colorectal cancerEnrichmentAKT1, AMER1, APC, AXIN2, CTNNB1, EP300, SOX93.32
25Catecholaminergic polymorphic ventricular tachycardiaEnrichmentCALM1, CALM2, CALM33.19
26Isolated split hand-split foot malformationEnrichmentBTRC, SEM1, WNT10B3.19
27Desmoid disease, hereditaryEnrichmentAPC, CTNNB13.12
2846,xx sex reversal 1EnrichmentSOX9, SRY3.12
29Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.12
30Desmoid tumorEnrichmentAPC, CTNNB13.12
31Parathyroid adenomaEnrichmentCDC73, MEN13.12
32Tetraamelia syndromeEnrichmentRSPO2, WNT33.12
33Familial isolated hyperparathyroidismEnrichmentCDC73, MEN13.12
34Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, CLTC, CSNK2B, GNB1, PPP3CA, YWHAZ2.99
35Retinopathy of prematurityEnrichmentFZD4, LRP52.82
36CraniopharyngiomaEnrichmentAPC, CTNNB12.82
37Tooth agenesisEnrichmentAXIN2, LRP6, WNT10A, WNT10B2.82
38Neural tube defectsEnrichmentDACT1, SCRIB, VANGL22.52
39Lung sarcomatoid carcinomaEnrichmentKRAS, TERT2.50
40Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.44
41Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.44
42HepatoblastomaEnrichmentAPC, CTNNB1, TERT2.36
43Long qt syndrome 1EnrichmentCALM1, CALM2, CALM3, ITPR32.31
44Multiple endocrine neoplasia, type iEnrichmentCDC73, MEN12.29
45Cleft palate, isolatedEnrichmentAMER1, GNB1, SMARCA42.18
46Glioma susceptibility 1EnrichmentH3-3A, H3C12.17
47Breast adenocarcinomaEnrichmentAKT1, KRAS2.12
48Charge syndromeEnrichmentEP300, KMT2D2.07
49Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB12.07
50Noonan syndrome 3EnrichmentCLTC, KRAS1.98
51Gallbladder cancerEnrichmentCTNNB1, KRAS1.98
52Macs syndromeEnrichmentPORCN, SOX2, WNT7B1.97
5346,xy complete gonadal dysgenesisEnrichmentSOX9, SRY1.89
54Heritable pulmonary arterial hypertensionEnrichmentCAV1, SOX171.89
55Septooptic dysplasiaEnrichmentSOX2, SOX31.82
56MeningiomaEnrichmentAKT1, TERT1.82
57Chiari malformation type iEnrichmentDKK11.80
58Proteus syndromeEnrichmentAKT11.80
59Endosteal hyperostosis, autosomal dominantEnrichmentLRP51.80
60Craniodiaphyseal dysplasia, autosomal dominantEnrichmentSOST1.80
61Nail disorder, nonsyndromic congenital, 1EnrichmentFZD61.80
62Mullerian aplasia and hyperandrogenismEnrichmentWNT41.80
63Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT21.80
64Panhypopituitarism, x-linkedEnrichmentSOX31.80
65Bone mineral density quantitative trait locus 1EnrichmentLRP51.80
66Exudative vitreoretinopathy 4EnrichmentLRP51.80
67Sclerosteosis 1EnrichmentSOST1.80
68Oligodontia-colorectal cancer syndromeEnrichmentAXIN21.80
69Branchial cleft anomaliesEnrichmentKMT2D1.80
70Lipodystrophy, congenital generalized, type 3EnrichmentCAV11.80
7146,xx sex reversal with dysgenesis of kidneys, adrenals, and lungsEnrichmentWNT41.80
72Parathyroid carcinomaEnrichmentCDC731.80
73Omodysplasia 2EnrichmentFZD21.80
74Hyperparathyroidism 2 with jaw tumorsEnrichmentCDC731.80
75Pseudohypoaldosteronism, type iieEnrichmentCUL31.80
76Tooth agenesis, selective, 7EnrichmentLRP61.80
77Sessile serrated polyposis cancer syndromeEnrichmentRNF431.80
78Caudal duplication anomalyEnrichmentAXIN11.80
79Vesicoureteral reflux 3EnrichmentSOX171.80
80Ectodermal dysplasia 13, hair/tooth typeEnrichmentKREMEN11.80
81Bone mineral density quantitative trait locus 17EnrichmentLGR41.80
82Pulmonary hypertension, primary, 3EnrichmentCAV11.80
83Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF11.80
84Exudative vitreoretinopathy 8EnrichmentLRP61.80
85Intellectual developmental disorder with speech delay and dysmorphic faciesEnrichmentSOX41.80
86Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.80
8746,xy sex reversal 10EnrichmentSOX91.80
88Humerofemoral hypoplasia with radiotibial ray deficiencyEnrichmentRSPO21.80
89Tolchin-le caignec syndromeEnrichmentSOX61.80
90Houge-janssens syndrome 4EnrichmentPPP2R5C1.80
9146,xx sex reversal 2EnrichmentSOX91.80
92Stankiewicz-isidor syndromeEnrichmentPSMD121.80
93Adrenal cortical adenomaEnrichmentMEN11.80
94Intellectual developmental disorder, x-linked, with panhypopituitarismEnrichmentSOX31.80
95Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversalEnrichmentRSPO11.80
96Osteoporosis-pseudoglioma syndromeEnrichmentLRP51.80
97Lipodystrophy, familial partial, type 7EnrichmentCAV11.80
98Coronary artery disease, autosomal dominant 2EnrichmentLRP61.80
99Bone mineral density quantitative trait locus 16EnrichmentWNT11.80
100Houge-janssens syndrome 2EnrichmentPPP2R1A1.80
101Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.80
102Spinocerebellar ataxia 40EnrichmentCCDC88C1.80
103Polycystic liver disease 4 with or without kidney cystsEnrichmentLRP51.80
104Cowden syndrome 6EnrichmentAKT11.80
105Microphthalmia/coloboma 11EnrichmentFZD51.80
106Cdc73-related disordersEnrichmentCDC731.80
107Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndromeEnrichmentKMT2D1.80
108Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.80
109Ovarian small cell carcinomaEnrichmentSMARCA41.80
110Deafness, autosomal dominant 75EnrichmentTRRAP1.80
111Neurodevelopmental disorder with or without autism or seizuresEnrichmentCUL31.80
112Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.80
113Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.80
114Townes-brocks syndrome 2EnrichmentDACT11.80
115Tetraamelia syndrome 2EnrichmentRSPO21.80
116Menke-hennekam syndrome 1EnrichmentCREBBP1.80
117Hyperplastic polyposis syndromeEnrichmentRNF431.80
118Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP1.80
119Autosomal recessive dyskeratosis congenita 4EnrichmentTERT1.80
120Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN11.80
121CraniorachischisisEnrichmentDACT11.80
122Adenoid ameloblastomaEnrichmentCTNNB11.80
12345,x/46,xy mixed gonadal dysgenesisEnrichmentSRY1.80
124Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.80
125Autosomal recessive spastic paraplegia type 59EnrichmentUSP81.80
126Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.80
127Lrp5-related primary osteoporosisEnrichmentLRP51.80
128Pulmonary hypertension, primary, 7EnrichmentSOX171.80
129Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndromeEnrichmentRSPO11.80
130Familial adenomatous polyposisEnrichmentAPC1.80
131Adrenal adenomaEnrichmentMEN11.80
132Menke-hennekam syndromeEnrichmentCREBBP1.80
133Gardner syndromeEnrichmentAPC1.80
134Osteosclerosis-developmental delay-craniosynostosis syndromeEnrichmentLRP51.80
1355q22 microdeletion syndromeEnrichmentAPC1.80
136Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.80
137Attenuated familial adenomatous polyposisEnrichmentAPC1.80
138Microcystic stromal tumorEnrichmentCTNNB11.80
139Akt2-related familial partial lipodystrophyEnrichmentAKT21.80
140Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC1, TNRC6B1.76
141Hereditary breast carcinomaEnrichmentAKT1, APC, CDC73, KRAS1.72
142OsteoporosisEnrichmentLRP5, WNT11.69
143MedulloblastomaEnrichmentAPC, CTNNB11.69
14446,xy partial gonadal dysgenesisEnrichmentSOX9, SRY1.69
145Anhidrosis, isolated, with normal sweat glandsEnrichmentITPR21.63
146Brachydactyly, type b1EnrichmentROR21.63
147Cardiospondylocarpofacial syndromeEnrichmentMAP3K71.63
148Oculoectodermal syndromeEnrichmentKRAS1.63
149Hypocalciuric hypercalcemia, familial, type iiiEnrichmentAP2S11.63
150Microphthalmia, syndromic 8EnrichmentSNX31.63
151Focal dermal hypoplasiaEnrichmentPORCN1.63
152Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosisEnrichmentRAC21.63
153Split-hand/foot malformation 6EnrichmentWNT10B1.63
154Amyotrophic lateral sclerosis 18EnrichmentPFN11.63
155Tooth agenesis, selective, 8EnrichmentWNT10B1.63
156Retinitis pigmentosa 57EnrichmentPDE6G1.63
157Parkinson disease 17EnrichmentVPS351.63
158Aortic aneurysm, familial thoracic 8EnrichmentPRKG11.63
159Neurodevelopmental disorder with involuntary movementsEnrichmentGNAO11.63
160Frontometaphyseal dysplasia 2EnrichmentMAP3K71.63
161Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B1.63
162Neurodevelopmental disorder with hypotonia and dysmorphic faciesEnrichmentGNB21.63
163Spondylometaphyseal dysplasia, pagnamenta typeEnrichmentPRKG21.63
164Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB31.63
165Deafness, autosomal recessive 108EnrichmentROR11.63
166Charcot-marie-tooth disease, demyelinating, type 1jEnrichmentITPR31.63
167Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A1.63
168Developmental and epileptic encephalopathy 91EnrichmentPPP3CA1.63
169Neurodevelopmental disorder with structural brain anomalies and dysmorphic faciesEnrichmentRAC31.63
170Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual developmentEnrichmentPPP3CA1.63
171Diarrhea 9EnrichmentWNT2B1.63
172Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaEnrichmentRAC21.63
173Cardiofaciocutaneous syndrome 2EnrichmentKRAS1.63
174Developmental and epileptic encephalopathy 17EnrichmentGNAO11.63
175Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmiaEnrichmentGNB51.63
176Spinocerebellar ataxia 14EnrichmentPRKCG1.63
177Santos syndromeEnrichmentWNT7A1.63
178Long qt syndrome 16EnrichmentCALM31.63
179Charcot-marie-tooth disease, dominant intermediate fEnrichmentGNB41.63
180Retinitis pigmentosa 43EnrichmentPDE6A1.63
181Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A1.63
182Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA1.63
183Intellectual developmental disorder, autosomal dominant 42EnrichmentGNB11.63
184Sick sinus syndrome 4EnrichmentGNB21.63
185Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA1.63
186Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A1.63
187Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopeniaEnrichmentRAC21.63
188Long qt syndrome 15EnrichmentCALM21.63
189Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathyEnrichmentITPR31.63
190Congenital pulmonary airway malformationEnrichmentKRAS1.63
191Infantile lad-like disease due to rac2 deficiencyEnrichmentRAC21.63
192Reticular dysgenesis-like severe combined immunodeficiencyEnrichmentRAC21.63
193Gnao1-related disorderEnrichmentGNAO11.63
194Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC11.63
195Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndromeEnrichmentRAC21.63
196Coffin-siris syndrome 1EnrichmentSMARCA4, SOX41.63
197AutismEnrichmentCHD8, CREBBP, KMT2D, TCF7L21.55
198Bladder cancerEnrichmentCTNNB1, KRAS, TERT1.53
199Breast cancerEnrichmentAKT1, APC, CDC73, GNG3, KRAS1.52
200Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF11.50
201Burkitt lymphomaEnrichmentMYC1.50
202Campomelic dysplasiaEnrichmentSOX91.50
203Craniodiaphyseal dysplasiaEnrichmentSOST1.50
204Pituitary adenoma 4, acth-secretingEnrichmentUSP81.50
205Thumb deformityEnrichmentCREBBP1.50
206Bladder exstrophy and epispadias complexEnrichmentWNT31.50
207Hypertrichosis, congenital generalized, 2EnrichmentSOX31.50
208Tetraamelia syndrome 1EnrichmentWNT31.50
209Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.50
210Pseudohypoaldosteronism, type i, autosomal dominantEnrichmentCUL31.50
211Complement component c1s deficiencyEnrichmentKMT2D1.50
212Osteogenesis imperfecta, type xvEnrichmentWNT11.50
213Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT1.50
214Choanal atresia, posteriorEnrichmentKMT2D1.50
215Houge-janssens syndrome 1EnrichmentPPP2R5D1.50
216Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.50
217Immunodeficiency, common variable, 15EnrichmentRUVBL11.50
218Birk-aharoni syndromeEnrichmentPSMC11.50
219Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.50
22046,xy sex reversal 1EnrichmentSRY1.50
221Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.50
222Menke-hennekam syndrome 2EnrichmentEP3001.50
223Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.50
224SclerosteosisEnrichmentSOST1.50
225Childhood hepatocellular carcinomaEnrichmentCTNNB11.50
226Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.50
227Townes-brocks syndromeEnrichmentDACT11.50
228Delayed puberty, self-limitedEnrichmentLGR41.50
229Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.50
230Split hand-foot malformationEnrichmentLEF11.50
231Medullary thyroid carcinomaEnrichmentMEN11.50
232Melanoma, cutaneous malignant 9EnrichmentTERT1.50
233Otosclerosis 12EnrichmentSMARCA41.50
234Coffin-siris syndrome 4EnrichmentSMARCA41.50
235Periampullary adenomaEnrichmentAPC1.50
236Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.50
237InsulinomaEnrichmentMEN11.50
238Chromosome 2p16.1-p15 deletion syndromeEnrichmentUSP341.50
23914q11.2 microduplication syndromeEnrichmentCHD81.50
240Idiopathic interstitial pneumoniaEnrichmentTERT1.50
24117q24.2 microdeletion syndromeEnrichmentPSMD121.50
242Houge-janssens syndrome 3EnrichmentPPP2CA1.50
243Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.50
244TeratomaEnrichmentCTNNB11.50
245Primary mediastinal large b-cell lymphomaEnrichmentXPO11.50
246OsteosclerosisEnrichmentLRP51.50
247Bladder exstrophy-epispadias-cloacal exstrophy complexEnrichmentWNT31.50
248Null pituitary adenomaEnrichmentMEN11.50
249Silent pituitary adenomaEnrichmentMEN11.50
250Submucosal cleft palateEnrichmentUBB1.50
251Campomelic dysplasia and related disordersEnrichmentSOX91.50
252Cleft hard palateEnrichmentUBB1.50
253GigantismEnrichmentMEN11.50
254Lung cancerEnrichmentKMT2D, KRAS, PPP2R1B1.42
255Cone-rod dystrophy 6EnrichmentGNAT2, PDE6B1.39
256Myeloma, multipleEnrichmentCREBBP, H3C1, KMT2D, KRAS1.39
257Autism spectrum disorderEnrichmentCHD8, CSNK2A1, CSNK2B, CUL3, GNB1, TNRC6B1.38
258Spinocerebellar ataxia 29EnrichmentITPR11.34
259Tooth agenesis, selective, 4EnrichmentWNT10A1.34
260Schopf-schulz-passarge syndromeEnrichmentWNT10A1.34
261Ulna and fibula, absence of, with severe limb deficiencyEnrichmentWNT7A1.34
262Odontoonychodermal dysplasiaEnrichmentWNT10A1.34
263Premature ovarian failure 3EnrichmentAGO21.34
264Ventricular tachycardia, catecholaminergic polymorphic, 4EnrichmentCALM11.34
265Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.34
266Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS1.34
267Night blindness, congenital stationary, type 1hEnrichmentGNB31.34
268Fibular aplasia or hypoplasia, femoral bowing, and poly-, syn-, and oligodactylyEnrichmentWNT7A1.34
269Long qt syndrome 14EnrichmentCALM11.34
270Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC11.34
271Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.34
272Acromesomelic dysplasia 4EnrichmentPRKG21.34
273Zaki syndromeEnrichmentWLS1.34
274Intellectual developmental disorder, autosomal dominant 60, with seizuresEnrichmentAP2M11.34
275Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmiaEnrichmentGNB51.34
276Isolated anencephalyEnrichmentVANGL21.34
277Isolated exencephalyEnrichmentVANGL21.34
278Cerebral visual impairmentEnrichmentGNB11.34
279HydrocephalusEnrichmentCCDC88C, FZD31.33
280Prognathism, mandibularEnrichmentCSNK2B1.33
281Pseudohypoaldosteronism, type iiaEnrichmentCUL31.33
282Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.33
283Nail disorder, nonsyndromic congenital, 4EnrichmentRSPO41.33
284Uvula, bifidEnrichmentUBB1.33
285Pituitary hormone deficiency, combined, 2EnrichmentSOX31.33
286Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomaliesEnrichmentWNT41.33
287Osteopetrosis, autosomal dominant 1EnrichmentLRP51.33
288Cleft soft palateEnrichmentUBB1.33
289Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.33
290Pituitary adenoma 1, multiple typesEnrichmentMEN11.33
291Cenani-lenz syndactyly syndromeEnrichmentAPC1.33
292Anus, imperforateEnrichmentCTNNB11.33
293Neurodevelopmental disorder with progressive spasticity and brain abnormalitiesEnrichmentRUVBL11.33
294Exudative vitreoretinopathy 7EnrichmentCTNNB11.33
295Tethered spinal cord syndromeEnrichmentCREBBP1.33
296High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.33
297Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.33
298Interstitial lung diseaseEnrichmentTERT1.33
299Nail diseaseEnrichmentFZD61.33
300Cellular ependymomaEnrichmentMEN11.33
301Tanycytic ependymomaEnrichmentMEN11.33
302Macrocytic anemiaEnrichmentTERT1.33
303Papillary ependymomaEnrichmentMEN11.33
304Intraocular pressure quantitative trait locusEnrichmentCREBBP1.33
305Familial vesicoureteral refluxEnrichmentSOX171.33
306Growth hormone secreting pituitary adenomaEnrichmentMEN11.33
307Aip familial isolated pituitary adenomasEnrichmentMEN11.33
308Occipital encephaloceleEnrichmentDACT11.33
309Colon adenocarcinomaEnrichmentAPC1.33
310Clear cell ependymomaEnrichmentMEN11.33
311Thyroid hemiagenesisEnrichmentPSMD31.33
312Apc-associated polyposis conditionsEnrichmentAPC1.33
313Brittle bone disorderEnrichmentLRP5, WNT11.29
314Inherited cancer-predisposing syndromeEnrichmentAPC, AXIN2, CDC73, MEN1, SMARCA41.22
315Acyl-coa dehydrogenase, very long-chain, deficiency ofEnrichmentDVL21.20
316Microphthalmia, syndromic 3EnrichmentSOX21.20
317Microtia-anotiaEnrichmentKMT2D1.20
318PilomatrixomaEnrichmentCTNNB11.20
319Alazami syndromeEnrichmentCTNNB11.20
320Intellectual developmental disorder, autosomal dominant 26EnrichmentKMT2D1.20
321EnophthalmosEnrichmentCSNK2B1.20
322SyndactylyEnrichmentCSNK2B1.20
323Intellectual developmental disorder with autism and macrocephalyEnrichmentCHD81.20
324Orofacial cleftEnrichmentLRP61.20
325Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.20
326ProlactinomaEnrichmentMEN11.20
327Eyelid colobomaEnrichmentFZD51.20
328Primary hyperparathyroidismEnrichmentMEN11.20
329VitreoretinopathyEnrichmentLRP51.20
330Benign ependymomaEnrichmentMEN11.20
331Orofacial clefting syndromeEnrichmentLRP61.20
332Lens colobomaEnrichmentFZD51.20
333MicrocephalyEnrichmentCTNNB1, EP300, GNAO1, GNB1, KMT2D, PSMC31.17
334Night blindness, congenital stationary, autosomal dominant 2EnrichmentPDE6B1.17
335Gillespie syndromeEnrichmentITPR11.17
336Microphthalmia, syndromic 9EnrichmentWNT7B1.17
337Tooth agenesis, selective, 2EnrichmentWNT10A1.17
338Retinitis pigmentosa 40EnrichmentPDE6B1.17
339Epilepsy, progressive myoclonic, 1bEnrichmentPRICKLE11.17
340Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC1.17
341Frontometaphyseal dysplasiaEnrichmentMAP3K71.17
342Lessel-kreienkamp syndromeEnrichmentAGO21.17
343Norrie diseaseEnrichmentFZD41.11
344Familial adenomatous polyposis 1EnrichmentAPC1.11
345Rubinstein-taybi syndrome 2EnrichmentEP3001.11
346AmblyopiaEnrichmentKMT2D1.11
347LymphomaEnrichmentKMT2D1.11
348Congenital ptosisEnrichmentCHD81.11
349Persistent hyperplastic primary vitreousEnrichmentFZD41.11
350Coloboma of choroid and retinaEnrichmentFZD51.11
351Diffuse cutaneous systemic sclerosisEnrichmentCAV11.11
352Idiopathic aplastic anemiaEnrichmentTERT1.11
353Ovarian cancerEnrichmentAKT1, APC, AXIN2, CTNNB11.10
354West syndromeEnrichmentCSNK1E, GNAO1, PLCB11.08
355Schimmelpenning-feuerstein-mims syndromeEnrichmentKRAS1.05
356Cardiofaciocutaneous syndrome 1EnrichmentKRAS1.05
357Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.05
358Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentWNT10A1.05
359Spastic paraplegia 17, autosomal dominantEnrichmentGNG31.05
360Lipodystrophy, congenital generalized, type 2EnrichmentGNG31.05
361Spinocerebellar ataxia 15EnrichmentITPR11.05
362Developmental and epileptic encephalopathy 12EnrichmentPLCB11.05
363Achromatopsia 4EnrichmentGNAT21.05
364Cardiofaciocutaneous syndromeEnrichmentKRAS1.05
365Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS1.05
366Hereditary ataxiaEnrichmentPRKCG1.05
367Ectodermal dysplasiaEnrichmentWNT10A1.05
368Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC1.05
369Pilocytic astrocytomaEnrichmentKRAS1.05
370GliomaEnrichmentVPS351.05
371Familial sick sinus syndromeEnrichmentGNB21.05
372MicrophthalmiaEnrichmentSOX2, WNT7B1.04
373Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT1.04
374Developmental dysplasia of the hip 1EnrichmentPSMC31.04
375Coloboma of optic nerveEnrichmentFZD51.04
376Kabuki syndrome 1EnrichmentKMT2D1.04
377Weyers acrofacial dysostosisEnrichmentCTNNB11.04
378Wolf-hirschhorn syndromeEnrichmentCTBP11.04
379Split-hand/foot malformation 1EnrichmentLEF11.04
380Pierre robin syndromeEnrichmentSOX91.04
381Patent ductus arteriosusEnrichmentPSMC31.04
382Pulmonary fibrosisEnrichmentTERT1.04
383Limited sclerodermaEnrichmentCAV11.04
384Hoyeraal-hreidarsson syndromeEnrichmentTERT1.04
385HypertrichosisEnrichmentCREBBP1.04
38646,xy disorder of sex developmentEnrichmentSRY1.04
387Kidney clear cell sarcomaEnrichmentTERT1.04
388Congenital stationary night blindnessEnrichmentGNB3, PDE6B1.00
389Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB1, GNAO1, GNB5, KMT2D0.99
390Nervous system diseaseEnrichmentCREBBP, CTNNB1, GNAO1, GNB5, KMT2D0.99
391Coats diseaseEnrichmentFZD40.97
392Gastrointestinal stromal tumorEnrichmentMEN10.97
393Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT0.97
394Congenital hydrocephalusEnrichmentCCDC88C0.97
395Overgrowth syndromeEnrichmentCHD80.97
396Albinism, oculocutaneous, type iiEnrichmentPDE6B0.95
397Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentWNT10A0.95
398Developmental and epileptic encephalopathy 1EnrichmentCSNK1E, GNAO10.94
399NeuroblastomaEnrichmentSMARCA40.92
400StrabismusEnrichmentGNB1, KMT2D0.89
401Hemihyperplasia, isolatedEnrichmentRHOA0.88
402Renal dysplasia, cysticEnrichmentWNT9B0.88
403Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathyEnrichmentCALM10.88
404Spinocerebellar ataxia, autosomal recessive 16EnrichmentITPR10.88
405Inflammatory myofibroblastic tumorEnrichmentCLTC0.88
406Renal hypoplasiaEnrichmentWNT9B0.88
407DiarrheaEnrichmentWNT2B0.88
408Lung squamous cell carcinomaEnrichmentKRAS0.88
409Multicystic kidney dysplasiaEnrichmentFZD30.88
410Multicystic dysplastic kidneyEnrichmentFZD30.88
411Tooth agenesis, selective, 1EnrichmentAXIN20.87
412Primary hyperaldosteronismEnrichmentUSP80.87
413Ventricular septal defectEnrichmentSMARCA40.87
414Colonic benign neoplasmEnrichmentAPC0.87
415Cowden syndromeEnrichmentAKT10.87
416Type 2 diabetes mellitusEnrichmentAKT2, TCF7L20.84
417Differentiated thyroid carcinomaEnrichmentKRAS, TERT0.84
418Cat eye syndromeEnrichmentFZD50.83
419Aplastic anemiaEnrichmentTERT0.83
420PolymicrogyriaEnrichmentPSMC30.83
421Nevus, epidermalEnrichmentKRAS0.82
422Capillary malformation-arteriovenous malformation 1EnrichmentKRAS0.82
423Leukemia, chronic myeloidEnrichmentKRAS0.82
424Renal cell carcinoma with mit translocationsEnrichmentCLTC0.82
425Pilomyxoid astrocytomaEnrichmentKRAS0.82
426Long qt syndromeEnrichmentCALM1, CALM20.79
427Non-immune hydrops fetalisEnrichmentFZD6, KRAS0.79
428NanophthalmosEnrichmentSOX20.79
429Atrial heart septal defectEnrichmentSMARCA40.79
430Diabetes mellitusEnrichmentMEN10.79
431Interatrial communicationEnrichmentSMARCA40.79
432Renal hypodysplasia/aplasia 1EnrichmentWNT9B0.76
433Catecholaminergic polymorphic ventricular tachycardia 1EnrichmentCALM10.76
434HypothyroidismEnrichmentGNB10.76
435Choreatic diseaseEnrichmentGNAO10.76
436Microphthalmia/coloboma 12EnrichmentFZD50.72
437Hypercholesterolemia, familial, 1EnrichmentSMARCA40.72
438Osteogenesis imperfecta, type ivEnrichmentWNT10.72
439Pulmonary hypertension, primary, 1EnrichmentSOX170.72
440Nk-cell enteropathyEnrichmentCUL30.72
441Myoclonic-atonic epilepsyEnrichmentAP2M10.72
442Developmental and epileptic encephalopathy 14EnrichmentPLCB10.72
443Renal agenesis, bilateralEnrichmentWNT9B0.72
444Heart diseaseEnrichmentCREBBP0.69
445AchromatopsiaEnrichmentGNAT20.68
446Coloboma of maculaEnrichmentFZD50.67
447Polydactyly, postaxial, type a1EnrichmentEP3000.67
448Corpus callosum, agenesis ofEnrichmentCREBBP0.67
449Osteogenesis imperfecta, type iiiEnrichmentWNT10.67
450Familial hypercholesterolemiaEnrichmentSMARCA40.67
451Isolated corpus callosum agenesisEnrichmentCREBBP0.67
452Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.67
453Male infertility with spermatogenesis disorderEnrichmentKMT2D0.67
454Hydrocephalus, congenital, 1EnrichmentCCDC88C0.64
455HypertensionEnrichmentMEN10.64
456Leukemia, acute lymphoblasticEnrichmentGNB10.64
457Myelodysplastic syndromeEnrichmentGNB10.64
458Lung non-small cell carcinomaEnrichmentKRAS0.64
459Movement diseaseEnrichmentGNAO10.64
460Cerebral palsyEnrichmentGNB1, SMARCA40.64
461Leukemia, acute myeloidEnrichmentKRAS, TERT0.62
462Melanoma, cutaneous malignant 1EnrichmentTERT0.62
463Interstitial lung disease 2EnrichmentTERT0.62
464Dandy-walker syndromeEnrichmentKMT2D0.62
465Juvenile myelomonocytic leukemiaEnrichmentKRAS0.61
466Congenital long qt syndromeEnrichmentITPR30.61
467Benign epilepsy with centrotemporal spikesEnrichmentPLCB1, PRICKLE10.61
468Patent foramen ovaleEnrichmentPSMC30.60
469Distal arthrogryposisEnrichmentFZD3, ROR20.59
470Chronic kidney diseaseEnrichmentWNT9B0.58
471Diffuse large b-cell lymphomaEnrichmentCREBBP0.58
472Dyskeratosis congenitaEnrichmentTERT0.58
473Centralopathic epilepsyEnrichmentPLCB1, PRICKLE10.58
474Gastric cancerEnrichmentAPC, KRAS0.58
475Multiple sclerosisEnrichmentITPR10.55
476Myoclonic epilepsy of unverricht and lundborgEnrichmentPRICKLE10.55
477Lung cancer susceptibility 3EnrichmentKRAS0.55
478Anterior segment dysgenesisEnrichmentITPR10.53
479Lynch syndromeEnrichmentKRAS0.53
480Noonan syndrome and noonan-related syndromeEnrichmentKRAS0.53
481Myocardial infarctionEnrichmentPSMA60.52
482Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.51
483ScoliosisEnrichmentCREBBP0.49
484Hypertension, essentialEnrichmentGNB30.48
485Sudden infant death syndromeEnrichmentCALM20.48
486Hydrops fetalis, nonimmuneEnrichmentFZD60.47
487Early infantile developmental and epileptic encephalopathyEnrichmentGNAO10.46
488Spastic ataxiaEnrichmentCCDC88C, ITPR10.45
489Arteriovenous malformations of the brainEnrichmentKRAS0.44
490Hereditary breast ovarian cancer syndromeEnrichmentKRAS, MEN10.43
491Hirschsprung disease 1EnrichmentAXIN20.43
492Undetermined early-onset epileptic encephalopathyEnrichmentCLTC, PPP3CA0.42
493Isolated joubert syndromeEnrichmentCBY10.42
494Connective tissue diseaseEnrichmentSOX90.39
495Attention deficit-hyperactivity disorderEnrichmentGNB50.39
496Noonan syndrome 1EnrichmentKRAS0.38
497Parkinson disease, late-onsetEnrichmentVPS350.36
498Cone dystrophyEnrichmentGNAT20.36
499Pancreatic cancerEnrichmentKRAS0.35
500RasopathyEnrichmentKRAS0.34
501Joubert syndrome 1EnrichmentCBY10.26
502DystoniaEnrichmentGNB10.25
503Eye diseaseEnrichmentGNAT20.25
504Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentTRRAP0.25
505Developmental and epileptic encephalopathyEnrichmentGNAO10.24
506Fetal akinesia deformation sequence 1EnrichmentROR20.23
507Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentLEO10.23
508Familial thoracic aortic aneurysm and aortic dissectionEnrichmentPRKG10.19
509Leber plus diseaseEnrichmentPDE6A, PDE6B0.19
510Hereditary retinal dystrophyEnrichmentFZD4, GNAT2, LRP5, PDE6A, PDE6B, PDE6G0.17
511Fundus dystrophyEnrichmentFZD4, GNAT2, LRP5, PDE6A, PDE6B, PDE6G0.17
512Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPFN10.13
513Cone-rod dystrophy 2EnrichmentPDE6B0.10
514Retinitis pigmentosaEnrichmentPDE6A, PDE6B, PDE6G0.06
515Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentROR10.06

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