Cell-cell junction organization

Pathway network for the Cell-cell junction organization SuperPath

Sources:
  • Reactome

Pathways in the Cell-cell junction organization SuperPath

#NameSourceGenes
1Cell-cell junction organizationReactome
(see all 272) (see less)
2Cell-Cell communicationReactome
(see all 334) (see less)
3Cell junction organizationReactome
(see all 298) (see less)
4Adherens junctions interactionsReactome
5Regulation of Homotypic Cell-Cell AdhesionReactome
6Regulation of Expression and Function of Type I Classical CadherinsReactome
7Regulation of CDH1 Expression and FunctionReactome

Gene overlap in member pathways for Cell-cell junction organization SuperPath

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

Disorders associated with Cell-cell junction organization SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Junctional epidermolysis bullosaEnrichmentCOL17A1, ITGA6, ITGB4, LAMA3, LAMB3, LAMC28.07
2Epidermolysis bullosa, junctional 1a, intermediateEnrichmentCOL17A1, ITGB4, LAMA3, LAMB3, LAMC27.53
3Junctional epidermolysis bullosa non-herlitz typeEnrichmentCOL17A1, ITGB4, LAMA3, LAMB3, LAMC27.53
4Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C95.49
5Patent foramen ovaleEnrichmentACTC1, FLNA, FLNC, PSMC3, PTPN114.24
6Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, CSNK2A1, H4C3, H4C5, H4C9, PSMD12, TNRC6B, ZMYM24.03
7Skin diseaseEnrichmentCOL17A1, ITGB4, KRT14, LAMB3, LAMC24.02
8Epidermolysis bullosa simplex 1c, localizedEnrichmentITGB4, KRT14, KRT53.99
9Epidermolysis bullosaEnrichmentITGA6, KRT5, LAMB33.99
10Genetic steroid-resistant nephrotic syndromeEnrichmentACTN4, CD2AP, MAGI2, NPHS1, NPHS2, WT13.80
11Epidermolysis bullosa, junctional 1b, severeEnrichmentLAMA3, LAMB3, LAMC23.70
12Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C33.66
13Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C113.66
14Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG13.66
15Bryant-li-bhoj neurodevelopmental syndrome 2EnrichmentH3-3A, H3-3B3.66
16Familial retinoblastomaEnrichmentMYCN, RB13.66
17Patent ductus arteriosusEnrichmentFLNA, PSMC3, PTPN113.55
18Epidermolysis bullosa simplexEnrichmentITGB4, KRT14, KRT53.46
19Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisEnrichmentCLDN1, CLDN163.40
20Hypomagnesemia 5, renal, with or without ocular involvementEnrichmentCLDN16, CLDN193.40
21Renal hypomagnesemia 5 with ocular involvementEnrichmentCLDN16, CLDN193.40
22Amelogenesis imperfecta, type iaEnrichmentCOL17A1, LAMB33.32
23Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT14, KRT53.32
24Localized junctional epidermolysis bullosa, non-herlitz typeEnrichmentCOL17A1, ITGB43.32
25RetinoblastomaEnrichmentMYCN, RB13.19
26Weaver syndromeEnrichmentEZH2, SUZ123.19
27Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C53.19
28Nephrotic syndrome, type 1EnrichmentKIRREL2, NPHS1, NPHS22.95
29Non-syndromic bicoronal craniosynostosisEnrichmentTCF12, TWIST12.89
30Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R12.75
31Vacterl associationEnrichmentCDH13, FOXF12.74
32Polycystic liver diseaseEnrichmentCTNNB1, GANAB, PRKCSH2.73
33Autosomal dominant polycystic liver diseaseEnrichmentCTNNB1, GANAB, PRKCSH2.73
34Muscular dystrophy-dystroglycanopathy , type a, 1EnrichmentPOMT1, POMT22.67
35Congenital muscular dystrophy with intellectual disabilityEnrichmentPOMT1, POMT22.67
36Epidermolysis bullosa simplex 1b, generalized intermediateEnrichmentKRT14, KRT52.55
37Epidermolysis bullosa simplex generalized typeEnrichmentKRT14, KRT52.55
38Corneal dystrophyEnrichmentCOL17A1, ZEB12.55
39Vater/vacterl associationEnrichmentCDH13, FOXF12.52
40Congenital muscular dystrophy with cerebellar involvementEnrichmentPOMT1, POMT22.50
41Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R22.45
42Epidermolysis bullosa simplex 2f, with mottled pigmentationEnrichmentKRT14, KRT52.34
43Epidermolysis bullosa simplex 1a, generalized severeEnrichmentKRT14, KRT52.34
44Waardenburg syndrome, type 2eEnrichmentSNAI2, SOX102.29
45Bladder cancerEnrichmentARID1A, CTNNB1, PIK3CA, RB12.28
46Glioma susceptibility 1EnrichmentH3-3A, H3C12.24
47NeuroblastomaEnrichmentMYCN, SMARCA42.24
48Arrhythmogenic right ventricular cardiomyopathyEnrichmentACTN2, FLNC, JUP2.19
49Epidermolysis bullosa, junctional 5b, with pyloric atresiaEnrichmentITGA6, ITGB42.17
50Ventricular septal defectEnrichmentFOXF1, SMARCA42.07
51Cat eye syndromeEnrichmentACTG1, TFAP2A2.04
52Muscle eye brain diseaseEnrichmentPOMT1, POMT22.04
53MicrocephalyEnrichmentACTB, ACTG1, ARID1A, CTNNB1, MAPK1, PSMC32.00
54Gallbladder cancerEnrichmentCTNNB1, PIK3CA1.93
55Focal segmental glomerulosclerosisEnrichmentNPHS1, NPHS2, WT11.91
56Dilated cardiomyopathyEnrichmentACTA1, ACTC1, ACTN2, FLNC, JUP, VCL1.86
57Keratolytic winter erythemaEnrichmentCTSB1.83
58Barber-say syndromeEnrichmentTWIST21.83
59Baraitser-winter syndrome 1EnrichmentACTB1.83
60Spermatogenic failure, x-linked, 9EnrichmentRBBP71.83
61Arrhythmogenic right ventricular dysplasia, familial, 12EnrichmentJUP1.83
62Macular dystrophy, patterned, 2EnrichmentCTNNA11.83
63Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA11.83
64Focal facial dermal dysplasia 2, brauer-setleis typeEnrichmentTWIST21.83
65Intellectual developmental disorder, autosomal recessive 37EnrichmentANK31.83
66Focal facial dermal dysplasia 3, setleis typeEnrichmentTWIST21.83
67Congenital disorder of glycosylation, type iw, autosomal recessiveEnrichmentSTT3A1.83
68Charcot-marie-tooth disease, dominant intermediate bEnrichmentDNM21.83
69Myopathy, scapulohumeroperonealEnrichmentACTA11.83
70Muscular dystrophy-dystroglycanopathy , type b, 1EnrichmentPOMT11.83
71Accelerated tumor formationEnrichmentMDM21.83
72Ablepharon-macrostomia syndromeEnrichmentTWIST21.83
73Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B1.83
74Naxos diseaseEnrichmentJUP1.83
75Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG21.83
76Noonan syndrome 13EnrichmentMAPK11.83
77Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB11.83
78Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.83
79Lessel-kubisch syndromeEnrichmentMDM21.83
80Stankiewicz-isidor syndromeEnrichmentPSMD121.83
81Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB1.83
82Imagawa-matsumoto syndromeEnrichmentSUZ121.83
83Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC31.83
84Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalitiesEnrichmentZMYM21.83
85Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.83
86Cardiomyopathy, dilated, 1wEnrichmentVCL1.83
87Muscular dystrophy-dystroglycanopathy , type c, 1EnrichmentPOMT11.83
88Becker nevus syndromeEnrichmentACTB1.83
89Dystonia-deafness syndrome 1EnrichmentACTB1.83
90Meacham syndromeEnrichmentWT11.83
91Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG21.83
92Lethal congenital contracture syndrome 5EnrichmentDNM21.83
93Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL1.83
94Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA11.83
95Congenital disorder of glycosylation, type irEnrichmentDDOST1.83
96Craniosynostosis 3EnrichmentTCF121.83
97Cleft palate, psychomotor retardation, and distinctive facial featuresEnrichmentKDM1A1.83
98Autosomal dominant familial visceral neuropathyEnrichmentACTG21.83
99Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA41.83
100Ovarian small cell carcinomaEnrichmentSMARCA41.83
101Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A1.83
102Thrombocytopenia 6EnrichmentSRC1.83
103Cohen-gibson syndromeEnrichmentEED1.83
104Bryant-li-bhoj neurodevelopmental syndrome 1EnrichmentH3-3A1.83
105Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A11.83
106Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA11.83
107Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB1.83
108Trilateral retinoblastomaEnrichmentRB11.83
109Adenoid ameloblastomaEnrichmentCTNNB11.83
110Baraitser-winter syndromeEnrichmentACTB1.83
111Congenital disorder of glycosylation iwEnrichmentSTT3A1.83
112Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeEnrichmentKDM1A1.83
113Autosomal dominant charcot-marie-tooth disease type 2mEnrichmentDNM21.83
114Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B1.83
115Non-acquired combined pituitary hormone deficiencyEnrichmentFOXA21.83
116Acth-independent macronodular adrenal hyperplasia 3EnrichmentKDM1A1.83
117Zebra body myopathyEnrichmentACTA11.83
118Congenital smooth muscle hamartomaEnrichmentACTB1.83
119Developmental malformations-deafness-dystonia syndromeEnrichmentACTB1.83
1207q31 microdeletion syndromeEnrichmentFOXP21.83
121Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.83
122Actin-accumulation myopathyEnrichmentACTA11.83
123Myopathic intestinal pseudoobstructionEnrichmentACTG21.83
124Microcystic stromal tumorEnrichmentCTNNB11.83
125Actg2 visceral myopathyEnrichmentACTG21.83
126Lung oat cell carcinomaEnrichmentRB11.83
127Elsahy-waters syndromeEnrichmentCDH111.80
128Teebi hypertelorism syndrome 2EnrichmentCDH111.80
129Progressive myoclonus epilepsy 10EnrichmentPRDM81.80
130Epilepsy, progressive myoclonic, 10EnrichmentPRDM81.80
131Plasma triglyceride level quantitative trait locusEnrichmentANGPTL41.80
132Atresia of urethraEnrichmentFOXF11.80
133NephrocalcinosisEnrichmentCLDN16, CLDN191.79
134NephrolithiasisEnrichmentCLDN16, CLDN191.79
135MedulloblastomaEnrichmentANK3, CTNNB11.75
136Lung cancer susceptibility 3EnrichmentACTA2, RB11.75
137Walker-warburg syndromeEnrichmentPOMT1, POMT21.75
138Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndromeEnrichmentCDH31.75
139Cleft lip/palate-ectodermal dysplasia syndromeEnrichmentNECTIN11.75
140Intellectual developmental disorder, autosomal dominant 3EnrichmentCDH151.75
141Agenesis of corpus callosum, cardiac, ocular, and genital syndromeEnrichmentCDH21.75
142Orofacial cleft 7EnrichmentNECTIN11.75
143HypotrichosisEnrichmentCDH31.75
144Arrhythmogenic right ventricular dysplasia, familial, 14EnrichmentCDH21.75
145Charcot-marie-tooth disease, axonal, type 2ffEnrichmentCADM31.75
146Ectodermal dysplasia-syndactyly syndrome 1EnrichmentNECTIN41.75
147Attention deficit-hyperactivity disorder 8EnrichmentCDH21.75
148Amelogenesis imperfecta, type ieEnrichmentCOL17A1, LAMB31.72
149Nemaline myopathyEnrichmentACTA1, FLNC1.72
150Adult hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA1.71
151Hypomagnesemia 3, renalEnrichmentCLDN161.70
152Helix syndromeEnrichmentCLDN101.70
153Deafness, autosomal recessive 116EnrichmentCLDN91.70
154Azoospermia, obstructive, with nephrolithiasisEnrichmentCLDN21.70
155Leukodystrophy, hypomyelinating, 22EnrichmentCLDN111.70
156Primary hypomagnesemiaEnrichmentCLDN161.70
157Coffin-siris syndrome 1EnrichmentARID1A, SMARCA41.69
158Colorectal cancerEnrichmentARID1A, CTNNA1, CTNNB1, PIK3CA, PIK3R1, SRC1.69
159Dermatopathia pigmentosa reticularisEnrichmentKRT141.66
160Otopalatodigital syndrome, type iEnrichmentFLNA1.66
161Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA1.66
162Raph blood group systemEnrichmentCD1511.66
163Naegeli-franceschetti-jadassohn syndromeEnrichmentKRT141.66
164Terminal osseous dysplasiaEnrichmentFLNA1.66
165Fg syndrome 2EnrichmentFLNA1.66
166Intellectual developmental disorder, x-linked 46EnrichmentARHGEF61.66
167Otopalatodigital syndrome spectrum disorderEnrichmentFLNA1.66
168Epidermolysis bullosa simplex 7, with nephropathy and deafnessEnrichmentCD1511.66
169Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongueEnrichmentLIMS21.66
170Bleeding disorder, platelet-type, 15EnrichmentACTN11.66
171X-linked ehlers-danlos syndromeEnrichmentFLNA1.66
172Late-onset junctional epidermolysis bullosaEnrichmentCOL17A11.66
173Autosomal recessive limb-girdle muscular dystrophy type 2wEnrichmentLIMS21.66
174X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA1.66
175Autism spectrum disorderEnrichmentCSNK2A1, CSNK2B, EED, TCF12, TNRC6B1.64
176Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R1, TCF31.62
177MacrodactylyEnrichmentPIK3CA1.61
178MetachondromatosisEnrichmentPTPN111.61
179Focal segmental glomerulosclerosis 1EnrichmentACTN41.61
180Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompactionEnrichmentACTN21.61
181Megalencephaly, autosomal dominantEnrichmentPIK3CA1.61
182Leopard syndrome 1EnrichmentPTPN111.61
183Developmental and epileptic encephalopathy 5EnrichmentSPTAN11.61
184Cowden syndrome 5EnrichmentPIK3CA1.61
185Cerebral cavernous malformations 4EnrichmentPIK3CA1.61
186Interstitial lung disease 1EnrichmentSFTPA11.61
187Congenital myopathy 8EnrichmentACTN21.61
188Short syndromeEnrichmentPIK3R11.61
189Thrombocytopenia 3EnrichmentFYB11.61
190Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN11.61
191Hemifacial myohyperplasiaEnrichmentPIK3CA1.61
192Actn3 deficiencyEnrichmentACTN31.61
193Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA1.61
194Focal segmental glomerulosclerosis 3EnrichmentCD2AP1.61
195Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R11.61
196Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R11.61
197Congenital autosomal recessive small-platelet thrombocytopeniaEnrichmentFYB11.61
198Myopathy, distal, 6, adult-onset, autosomal dominantEnrichmentACTN21.61
199Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA1.61
200Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN11.61
201Developmental delay with or without epilepsyEnrichmentSPTAN11.61
202Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN11.61
203HypospadiasEnrichmentPIK3CA1.61
204Cask-related intellectual disabilityEnrichmentCASK1.61
205Rare venous malformationEnrichmentPIK3CA1.61
206Vegetative pyoderma gangrenosumEnrichmentPTPN61.61
207Bullous pyoderma gangrenosumEnrichmentPTPN61.61
208Diaphragmatic eventrationEnrichmentPIK3CA1.61
209Pustular pyoderma gangrenosumEnrichmentPTPN61.61
210Familial nephrotic syndromeEnrichmentNPHS11.61
211Pik3ca-related overgrowth spectrumEnrichmentPIK3CA1.61
212Rare combined vascular malformationEnrichmentPIK3CA1.61
213Cavernous lymphangiomaEnrichmentPIK3CA1.61
214Pik3ca-related overgrowth syndromeEnrichmentPIK3CA1.61
215Classic pyoderma gangrenosumEnrichmentPTPN61.61
216Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA1.61
217Eccrine angiomatous hamartomaEnrichmentPIK3CA1.61
218Macrodactyly of toeEnrichmentPIK3CA1.61
219Malignant astrocytomaEnrichmentPTPN111.61
220Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentCDH2, JUP1.61
221Hydrops fetalis, nonimmuneEnrichmentACTA1, ARID1A, PTPN111.60
222Specific learning disabilityEnrichmentMAPK1, PTPN111.54
223Blepharocheilodontic syndrome 1EnrichmentCTNND11.53
224Burkitt lymphomaEnrichmentMYC1.53
225Robinow-sorauf syndromeEnrichmentTWIST11.53
226Mowat-wilson syndromeEnrichmentZEB21.53
227Denys-drash syndromeEnrichmentWT11.53
228Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.53
229Nephrotic syndrome, type 4EnrichmentWT11.53
230Lethal congenital contracture syndrome 3EnrichmentPIP5K1C1.53
231Congenital disorder of glycosylation, type iibEnrichmentMOGS1.53
232Aortic aneurysm, familial thoracic 2EnrichmentACTA21.53
233Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.53
234Premature ovarian failure 3EnrichmentAGO21.53
235Cardiomyopathy, dilated, 1rEnrichmentACTC11.53
236Piebald traitEnrichmentSNAI21.53
237Deafness, autosomal dominant 20EnrichmentACTG11.53
238Cardiomyopathy, familial hypertrophic, 11EnrichmentACTC11.53
239Smooth muscle dysfunction syndromeEnrichmentACTA21.53
240Aortic aneurysm, familial thoracic 6EnrichmentACTA21.53
241Baraitser-winter syndrome 2EnrichmentACTG11.53
242Frasier syndromeEnrichmentWT11.53
243Muscular dystrophy-dystroglycanopathy , type c, 12EnrichmentPOMT11.53
244Muscular dystrophy-dystroglycanopathy , type c, 2EnrichmentPOMT21.53
245Chromosome 13q14 deletion syndromeEnrichmentRB11.53
246Muscular dystrophy-dystroglycanopathy , type a, 2EnrichmentPOMT21.53
247Moyamoya disease 5EnrichmentACTA21.53
248Atrial septal defect 5EnrichmentACTC11.53
249Blepharocheilodontic syndrome 2EnrichmentCTNND11.53
250Sweeney-cox syndromeEnrichmentTWIST11.53
251Birk-aharoni syndromeEnrichmentPSMC11.53
252Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.53
253Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.53
254Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.53
255Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.53
256Childhood hepatocellular carcinomaEnrichmentCTNNB11.53
257Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.53
258Muscular dystrophy-dystroglycanopathy , type b, 2EnrichmentPOMT21.53
259Megalencephaly-polydactyly syndromeEnrichmentMYCN1.53
260Otosclerosis 12EnrichmentSMARCA41.53
261Coffin-siris syndrome 4EnrichmentSMARCA41.53
262Congenital disorder of glycosylation, type iw, autosomal dominantEnrichmentSTT3A1.53
263EsotropiaEnrichmentTFAP2A1.53
26417q24.2 microdeletion syndromeEnrichmentPSMD121.53
265Polycystic kidney disease 3EnrichmentGANAB1.53
266Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.53
267B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.53
268TeratomaEnrichmentCTNNB11.53
269Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)EnrichmentRPN11.53
270Non-syndromic sagittal craniosynostosisEnrichmentTWIST11.53
271B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.53
272Lens subluxationEnrichmentTFAP2A1.53
273Desmoplastic small round cell tumorEnrichmentWT11.53
274Intestinal obstructionEnrichmentACTG21.53
275Submucosal cleft palateEnrichmentUBB1.53
276Cleft hard palateEnrichmentUBB1.53
277Autosomal recessive limb-girdle muscular dystrophyEnrichmentPOMT1, POMT21.50
278Waardenburg syndrome, type 4cEnrichmentSOX101.50
279Pyloric stenosis, infantile hypertrophic, 5EnrichmentFOXF11.50
280Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentSOX101.50
281Idiopathic/heritable pulmonary arterial hypertensionEnrichmentFOXF11.50
282Neural tube defectsEnrichmentITGB1, PARD31.50
283Amelogenesis imperfectaEnrichmentCOL17A1, LAMB31.50
284EpicanthusEnrichmentPTPN11, TFAP2A1.47
285Lip and oral cavity carcinomaEnrichmentPIK3CA, RB11.47
286CraniosynostosisEnrichmentCTNNA1, TCF121.46
287Hypotrichosis, congenital, with juvenile macular dystrophyEnrichmentCDH31.46
288Multiple sclerosisEnrichmentDST, ITGB41.43
289Centronuclear myopathyEnrichmentACTA1, DNM21.42
290Deafness, autosomal recessive 29EnrichmentCLDN141.40
291Non-immune hydrops fetalisEnrichmentACTA1, ARID1A, PTPN111.40
292Amelogenesis imperfecta, type ibEnrichmentCOL17A11.36
293Epidermolysis bullosa, junctional 2c, laryngoonychocutaneousEnrichmentLAMA31.36
294Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA1.36
295Otopalatodigital syndrome, type iiEnrichmentFLNA1.36
296Melnick-needles syndromeEnrichmentFLNA1.36
297Frontometaphyseal dysplasia 1EnrichmentFLNA1.36
298Epidermolysis bullosa simplex 2e, with migratory circinate erythemaEnrichmentKRT51.36
299Epithelial recurrent erosion dystrophyEnrichmentCOL17A11.36
300Epidermolysis bullosa, junctional 3b, severeEnrichmentLAMC21.36
301Epidermolysis bullosa, junctional 3a, intermediateEnrichmentLAMC21.36
302Epidermolysis bullosa, junctional 4, intermediateEnrichmentCOL17A11.36
303Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessiveEnrichmentKRT51.36
304Epidermolysis bullosa, junctional 2a, intermediateEnrichmentLAMA31.36
305Epidermolysis bullosa, junctional 5a, intermediateEnrichmentITGB41.36
306Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.36
307Sjogren-larsson syndromeEnrichmentKRT141.36
308Cardiovascular system diseaseEnrichmentFLNC1.36
309Epidermolysis bullosa, junctional 2b, severeEnrichmentLAMA31.36
310Epidermolysis bullosa simplex 2a, generalized severeEnrichmentKRT51.36
311Desmoid disease, hereditaryEnrichmentCTNNB11.36
312Craniosynostosis 1EnrichmentTWIST11.36
313Prognathism, mandibularEnrichmentCSNK2B1.36
314Mesothelioma, malignantEnrichmentWT11.36
315Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.36
316Uvula, bifidEnrichmentUBB1.36
317Myopathy, centronuclear, x-linkedEnrichmentDNM21.36
318Osteogenic sarcomaEnrichmentRB11.36
319Corneal dystrophy, posterior polymorphous, 3EnrichmentZEB11.36
320Cleft soft palateEnrichmentUBB1.36
321Corneal dystrophy, fuchs endothelial, 6EnrichmentZEB11.36
322Epidermolysis bullosa, lethal acantholyticEnrichmentJUP1.36
323Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.36
324Woolly hair, autosomal recessive 3EnrichmentRB11.36
325Anus, imperforateEnrichmentCTNNB11.36
326Exudative vitreoretinopathy 7EnrichmentCTNNB11.36
327Hypotrichosis 8EnrichmentRB11.36
328Coffin-siris syndrome 2EnrichmentARID1A1.36
329Desmoid tumorEnrichmentCTNNB11.36
330High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.36
331Dedifferentiated liposarcomaEnrichmentMDM21.36
332Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.36
333Congenital muscular dystrophy-dystroglycanopathy type aEnrichmentPOMT21.36
334Squamous cell carcinomaEnrichmentRB11.36
335Intraocular pressure quantitative trait locusEnrichmentZEB11.36
336Periventricular leukomalaciaEnrichmentARID1A1.36
337Bone osteosarcomaEnrichmentRB11.36
338Lessel-kreienkamp syndromeEnrichmentAGO21.36
339Butterfly-shaped pigment dystrophyEnrichmentCTNNA11.36
340Childhood apraxia of speechEnrichmentFOXP21.36
341Cushing syndrome due to bilateral macronodular adrenocortical diseaseEnrichmentKDM1A1.36
342Well-differentiated liposarcomaEnrichmentMDM21.36
343Thyroid hemiagenesisEnrichmentPSMD31.36
344Inherited cancer-predisposing syndromeEnrichmentCTNNA1, EZH2, RB1, SMARCA4, WT11.33
345Familial hypertrophic cardiomyopathyEnrichmentACTC1, ACTN2, FLNC1.33
346Waardenburg syndrome, type 2aEnrichmentSOX101.33
347Alveolar capillary dysplasia with misalignment of pulmonary veinsEnrichmentFOXF11.33
348Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1EnrichmentTYROBP1.31
349Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.31
350Nephrotic syndrome, type 2EnrichmentNPHS21.31
351Fg syndrome 4EnrichmentCASK1.31
352Keratosis, seborrheicEnrichmentPIK3CA1.31
353Intellectual developmental disorder, autosomal dominant 4EnrichmentKIRREL31.31
354Noonan syndrome 8EnrichmentPIK3CA1.31
355Werner syndromeEnrichmentPTPN111.31
356Nephrotic syndrome, type 15EnrichmentMAGI21.31
357Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.31
358Syndromic x-linked intellectual disabilityEnrichmentCASK1.31
359Nephrotic syndrome, type 23EnrichmentKIRREL11.31
360Genetic nephrotic syndromeEnrichmentNPHS21.31
361Idiopathic nephrotic syndromeEnrichmentNPHS21.31
362Kidney diseaseEnrichmentNPHS1, WT11.29
363Amyotrophic lateral sclerosis 9EnrichmentANG1.28
364Cleft palate, isolatedEnrichmentFLNA, SMARCA41.28
365Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentARID1A, CASK1.24
366Aniridia 1EnrichmentWT11.24
367Branchiooculofacial syndromeEnrichmentTFAP2A1.24
368Diffuse gastric and lobular breast cancer syndromeEnrichmentCTNNA11.24
369Small cell cancer of the lungEnrichmentRB11.24
370Nemaline myopathy 2EnrichmentACTA11.24
371Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.24
372Polyposis syndrome, hereditary mixed, 1EnrichmentCTNNA11.24
373Autoimmune lymphoproliferative syndromeEnrichmentACTA21.24
374Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.24
375Saethre-chotzen syndromeEnrichmentTWIST11.24
376PilomatrixomaEnrichmentCTNNB11.24
377Aminoacylase 1 deficiencyEnrichmentACTB1.24
378Lynch syndrome 4EnrichmentRB11.24
379Alazami syndromeEnrichmentCTNNB11.24
380EnophthalmosEnrichmentCSNK2B1.24
381SyndactylyEnrichmentCSNK2B1.24
382CraniopharyngiomaEnrichmentCTNNB11.24
383Intermediate nemaline myopathyEnrichmentACTA11.24
384Congenital muscular dystrophy without intellectual disabilityEnrichmentPOMT11.24
385Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.24
386Thrombocytopenia 5EnrichmentCLDN161.23
387Arachnoid cystEnrichmentPALS11.23
388Interstitial lung disease 2EnrichmentSFTPA1, SFTPA21.19
389Prune belly syndromeEnrichmentFLNA1.19
390Arterial tortuosity syndromeEnrichmentFLNA1.19
391Periventricular nodular heterotopia 1EnrichmentFLNA1.19
392Myopathy, myofibrillar, 5EnrichmentFLNC1.19
393Congenital short bowel syndromeEnrichmentFLNA1.19
394Myopathy, distal, 4EnrichmentFLNC1.19
395Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiencyEnrichmentDST1.19
396Epidermolysis bullosa, junctional 6, with pyloric atresiaEnrichmentITGA61.19
397Epidermolysis bullosa simplex 2b, generalized intermediateEnrichmentKRT51.19
398Frontometaphyseal dysplasiaEnrichmentFLNA1.19
399Epidermolysis bullosa simplex 2c, localizedEnrichmentKRT51.19
400Cleft lip and alveolusEnrichmentNECTIN11.16
401Neuromuscular diseaseEnrichmentACTA1, SPTAN11.15
402Polycystic liver disease 1 with or without kidney cystsEnrichmentPRKCSH1.14
403Feingold syndrome 1EnrichmentMYCN1.14
404Visceral myopathy 1EnrichmentACTG21.14
405Exudative vitreoretinopathy 1EnrichmentCTNNB11.14
406Polycystic kidney disease 3 with or without polycystic liver diseaseEnrichmentGANAB1.14
407Congenital myopathy 3 with rigid spineEnrichmentACTA11.14
408Chondrosarcoma, extraskeletal myxoidEnrichmentTCF121.14
409Leber congenital amaurosis 10EnrichmentWT11.14
410Fuchs' endothelial dystrophyEnrichmentZEB11.14
411AmblyopiaEnrichmentTFAP2A1.14
412Polycystic liver disease 1EnrichmentPRKCSH1.14
413Coloboma of choroid and retinaEnrichmentACTG11.14
414Endometrial stromal sarcomaEnrichmentSUZ121.14
415Severe congenital nemaline myopathyEnrichmentACTA11.14
416Pompe disease, infantile-onsetEnrichmentPIK3CA1.14
417Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentCASK1.14
418Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.14
419Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.14
420Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.14
421Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.14
422Nephrotic syndrome, type 24EnrichmentNPHS21.14
423Intrinsic cardiomyopathyEnrichmentACTN21.14
424Syndromic x-linked intellectual disability najm typeEnrichmentCASK1.14
425Cerebellar diseaseEnrichmentCASK1.14
426Immunodeficiency 14EnrichmentPIK3R11.14
427Tricuspid valve insufficiencyEnrichmentPTPN111.14
428KeratoacanthomaEnrichmentPIK3CA1.14
429Congenital nervous system abnormalityEnrichmentANK3, CTNNB1, POMT1, ZEB21.14
430Nervous system diseaseEnrichmentANK3, CTNNB1, POMT1, ZEB21.14
431Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentSOX101.11
432Dowling-degos disease 1EnrichmentKRT51.07
433Epidermolysis bullosa simplex 5c, with pyloric atresiaEnrichmentITGB41.07
434Neuropathy, hereditary sensory and autonomic, type viEnrichmentDST1.07
435Cardiomyopathy, familial hypertrophic, 26EnrichmentFLNC1.07
436Dowling-degos diseaseEnrichmentKRT51.07
437Cleft upper lipEnrichmentNECTIN11.07
438Developmental dysplasia of the hip 1EnrichmentPSMC31.07
439Li-fraumeni syndromeEnrichmentMDM21.07
440Branchiootorenal syndrome 1EnrichmentTFAP2A1.07
441Myopathy, centronuclear, 1EnrichmentDNM21.07
442Corneal dystrophy, posterior polymorphous, 1EnrichmentZEB11.07
443Weyers acrofacial dysostosisEnrichmentCTNNB11.07
444Wolf-hirschhorn syndromeEnrichmentCTBP11.07
445Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentWT11.07
446Moyamoya disease 1EnrichmentACTA21.07
447Wilms tumor 5EnrichmentWT11.07
448Intestinal pseudo-obstructionEnrichmentACTG21.07
449Adrenocortical carcinomaEnrichmentCTNNB11.07
450Typical nemaline myopathyEnrichmentACTA11.07
451Cleft lip with or without cleft palateEnrichmentCTNND11.07
452Nephrotic syndromeEnrichmentKIRREL2, NPHS1, NPHS21.05
453Hypertrophic cardiomyopathyEnrichmentACTC1, ACTN2, PTPN111.05
454CakutEnrichmentACTG1, ZMYM21.05
455Waardenburg syndrome, type 4aEnrichmentSOX101.04
456Waardenburg syndromeEnrichmentSOX101.04
457Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.02
458Cerebrovascular diseaseEnrichmentPIK3CA1.02
459Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN111.02
460Noonan syndrome with multiple lentiginesEnrichmentPTPN111.02
461Familial cerebral cavernous malformationsEnrichmentPIK3CA1.02
462Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.02
463MyelofibrosisEnrichmentSRC1.00
464Branchiootorenal syndromeEnrichmentTFAP2A1.00
465MegacolonEnrichmentZEB21.00
466Childhood-onset nemaline myopathyEnrichmentACTA11.00
467Hepatocellular carcinomaEnrichmentCTNNB1, PIK3CA1.00
468Hemifacial hyperplasiaEnrichmentFLNC0.98
469Heart conduction diseaseEnrichmentFLNC0.98
470Aplasia cutis congenitaEnrichmentITGB40.98
471Waardenburg syndrome, type 1EnrichmentSOX100.97
472Melanocytic nevus syndrome, congenitalEnrichmentZEB20.95
473Exudative vitreoretinopathyEnrichmentCTNNB10.95
474Isolated split hand-split foot malformationEnrichmentSEM10.95
475Difference of sex developmentEnrichmentWT10.95
476Combined pituitary hormone deficiencyEnrichmentFOXA20.95
477ThrombocytopeniaEnrichmentACTN1, PTPN11, SRC0.94
478AnxietyEnrichmentPALS10.94
479Capillary malformations, congenitalEnrichmentPIK3CA0.93
480Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentCASK0.93
481Pervasive developmental disorderEnrichmentSPTBN10.93
482LymphomaEnrichmentPTPN110.93
483HemimegalencephalyEnrichmentPIK3CA0.93
484Rare pervasive developmental disorderEnrichmentSPTBN10.93
485MyopathyEnrichmentACTA1, DNM20.93
486Inherited arrhythmogenic cardiomyopathyEnrichmentFLNC0.90
487Autosomal dominant non-syndromic intellectual disabilityEnrichmentCDH15, CSNK2B, KIRREL30.90
488Leukemia, acute lymphoblastic 3EnrichmentWT10.90
489Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentTNRC6B0.90
490Distal arthrogryposisEnrichmentACTA1, ACTC10.89
491PolymicrogyriaEnrichmentPSMC30.86
492Klippel-trenaunay-weber syndromeEnrichmentPIK3CA0.86
493Cowden syndrome 1EnrichmentPIK3CA0.86
494Hemihyperplasia, isolatedEnrichmentPIK3CA0.86
495Breast adenocarcinomaEnrichmentPIK3CA0.86
496Lung squamous cell carcinomaEnrichmentPIK3CA0.86
497Familial isolated dilated cardiomyopathyEnrichmentACTC1, ACTN2, VCL0.85
498Myofibrillar myopathyEnrichmentFLNC0.84
499Familial isolated restrictive cardiomyopathyEnrichmentFLNC0.84
500Hypotrichosis simplexEnrichmentCDH30.83
501Perrault syndromeEnrichmentCLDN140.82
502Atrial heart septal defectEnrichmentSMARCA40.82
50346,xy complete gonadal dysgenesisEnrichmentWT10.82
504Interatrial communicationEnrichmentSMARCA40.82
505Myeloma, multipleEnrichmentH3C1, PIK3R2, TCF30.80
506Nevus, epidermalEnrichmentPIK3CA0.80
507Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA0.80
508Noonan syndrome 3EnrichmentPTPN110.80
509Focal epilepsyEnrichmentSPTAN10.80
510Overgrowth syndromeEnrichmentPIK3R10.80
511Fanconi anemia, complementation group cEnrichmentFLNA0.79
512Septooptic dysplasiaEnrichmentARID1A0.78
513Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentJUP0.78
514Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentJUP0.78
515Hypercholesterolemia, familial, 1EnrichmentSMARCA40.75
516Frontotemporal dementia 1EnrichmentANG0.75
517Cerebral palsyEnrichmentPALS1, SMARCA40.74
518Lung cancerEnrichmentACTA2, PIK3CA0.73
519OsteoporosisEnrichmentSRC0.72
52046,xy partial gonadal dysgenesisEnrichmentWT10.72
521Ovarian cancerEnrichmentCTNNB1, RB1, WT10.72
522Autosomal dominant macrothrombocytopeniaEnrichmentACTN10.70
523Wilms tumor 1EnrichmentWT10.70
524Congenital myopathy 4a, autosomal dominantEnrichmentACTA10.70
525Familial hypercholesterolemiaEnrichmentSMARCA40.70
526Autosomal dominant polycystic kidney diseaseEnrichmentGANAB0.70
527Arteriovenous malformationEnrichmentPIK3CA0.70
528Cowden syndromeEnrichmentPIK3CA0.70
529Wolff-parkinson-white syndromeEnrichmentJUP0.67
530Hydrocephalus, congenital, 1EnrichmentPOMT10.67
531Left ventricular noncompactionEnrichmentACTC1, ACTN20.67
532Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA0.66
533Cleft lip/palateEnrichmentNECTIN10.66
534Non-syndromic x-linked intellectual disabilityEnrichmentARHGEF6, CASK0.65
535Charcot-marie-tooth diseaseEnrichmentDNM2, DST0.64
536Cardiac conduction defectEnrichmentFLNC0.63
537Restrictive cardiomyopathyEnrichmentFLNC0.63
538Corpus callosum, agenesis ofEnrichmentCDH20.63
539Isolated corpus callosum agenesisEnrichmentCDH20.63
540Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCDH20.63
541Heart, malformation ofEnrichmentMAPK10.63
542Pectus excavatumEnrichmentPTPN110.62
543Lung non-small cell carcinomaEnrichmentPIK3CA0.62
544Congenital myopathyEnrichmentACTA10.61
545Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, FLNA0.60
546Juvenile myelomonocytic leukemiaEnrichmentPTPN110.59
547MeningiomaEnrichmentPIK3CA0.59
548Congenital long qt syndromeEnrichmentPTPN110.59
549Periventricular nodular heterotopiaEnrichmentFLNA0.57
550LissencephalyEnrichmentACTG10.57
551HepatoblastomaEnrichmentCTNNB10.57
552Chronic kidney diseaseEnrichmentNPHS20.56
553Nk-cell enteropathyEnrichmentPIK3CB0.56
554Myocardial infarctionEnrichmentPSMA60.55
555MicrophthalmiaEnrichmentTFAP2A0.55
556Arteriovenous malformations of the brainEnrichmentCDH20.54
557Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.54
558Muscular dystrophyEnrichmentPOMT20.52
559Kallmann syndromeEnrichmentSOX100.51
560Lynch syndromeEnrichmentPIK3CA0.51
561Noonan syndrome and noonan-related syndromeEnrichmentPTPN110.51
562Isolated congenital microcephalyEnrichmentCASK0.48
563Rare genetic deafnessEnrichmentACTG1, SOX100.44
564Early infantile developmental and epileptic encephalopathyEnrichmentCASK0.44
565HypertelorismEnrichmentPIK3CA, TFAP2A0.43
566Auditory neuropathyEnrichmentCDH20.43
567Cardiomyopathy, dilated, 1aEnrichmentFLNC0.43
568Hirschsprung disease 1EnrichmentSOX100.43
569Spastic ataxiaEnrichmentFLNC, SPTAN10.42
570Connective tissue diseaseEnrichmentACTA20.42
571Endometrial cancerEnrichmentPIK3CA0.39
572Cardiomyopathy, familial hypertrophic, 1EnrichmentFLNC0.38
573Non-syndromic genetic deafnessEnrichmentACTG10.38
574Fetal akinesia deformation sequence 1EnrichmentACTA10.37
575Noonan syndrome 1EnrichmentPTPN110.36
576Tetralogy of fallotEnrichmentFLNC0.36
577ScoliosisEnrichmentPTPN110.35
578Jeune thoracic dystrophyEnrichmentSPTAN10.33
579Nonsyndromic hearing lossEnrichmentACTG10.33
580RasopathyEnrichmentPTPN110.32
581StrabismusEnrichmentPTPN110.31
582Male infertilityEnrichmentCLDN20.30
583Asphyxiating thoracic dystrophyEnrichmentSPTAN10.30
584Prostate cancerEnrichmentPIK3CA0.29
585Long qt syndrome 1EnrichmentPTPN110.28
586Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.27
587Hereditary breast ovarian cancer syndromeEnrichmentCTNNA10.25
588Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.25
589DystoniaEnrichmentCASK0.23
590Primary ovarian insufficiencyEnrichmentWT10.23
591Developmental and epileptic encephalopathyEnrichmentSPTAN10.23
592Sensorineural hearing lossEnrichmentCLDN140.21
593Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.19
594Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentANG0.19
595Hereditary spastic paraplegiaEnrichmentSPTAN10.19
596Centralopathic epilepsyEnrichmentSPTAN10.18
597Gastric cancerEnrichmentPIK3CA0.18
598West syndromeEnrichmentSPTAN10.18
599Hereditary breast carcinomaEnrichmentPIK3CA0.18
600Deafness, autosomal recessiveEnrichmentCLDN140.14
601Autosomal recessive nonsyndromic deafnessEnrichmentCLDN140.14
602Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.12
603Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentCLDN140.08
604Breast cancerEnrichmentPIK3CA0.07
605Hereditary retinal dystrophyEnrichmentCDH3, CTNNA10.01
606Fundus dystrophyEnrichmentCDH3, CTNNA10.01
607Retinitis pigmentosaEnrichmentCDH30.01

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