Overlap between signal transduction pathways contributing to LMNA laminopathies

No Pathway Network information available for Overlap between signal transduction pathways contributing to LMNA laminopathies

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

Disorders associated with Overlap between signal transduction pathways contributing to LMNA laminopathies SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB25.26
2Familial partial lipodystrophyEnrichmentLMNA, PPARG5.14
312q14 microdeletion syndromeEnrichmentHMGA2, LEMD34.78
4Desmoid disease, hereditaryEnrichmentAPC, CTNNB14.66
5Restrictive dermopathy 1EnrichmentLMNA, ZMPSTE244.66
6Desmoid tumorEnrichmentAPC, CTNNB14.66
7Restrictive dermopathyEnrichmentLMNA, ZMPSTE244.66
8Hepatocellular carcinomaEnrichmentAPC, AXIN1, CTNNB14.56
9Familial thoracic aortic aneurysm and aortic dissectionEnrichmentNOTCH1, SMAD2, SMAD3, TGFB24.50
10Hutchinson-gilford progeria syndromeEnrichmentLMNA, ZMPSTE244.36
11Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentEMD, LMNA4.36
12Emery-dreifuss muscular dystrophyEnrichmentEMD, LMNA4.36
13CraniopharyngiomaEnrichmentAPC, CTNNB14.36
14Dedifferentiated liposarcomaEnrichmentCDK4, HMGA24.30
15Well-differentiated liposarcomaEnrichmentCDK4, HMGA24.30
16Colorectal cancerEnrichmentAPC, CCND1, CTNNB1, PPARG4.05
17Type 2 diabetes mellitusEnrichmentPPARG, SLC2A4, TCF7L23.70
18Inherited cancer-predisposing syndromeEnrichmentAPC, CDK4, CEBPA, DICER1, RB13.68
19Bladder cancerEnrichmentCDKN1A, CTNNB1, RB13.65
20Atrial septal defect 1EnrichmentBMP2, TGFB23.60
21Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB13.59
22Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA, TOR1AIP13.33
23MedulloblastomaEnrichmentAPC, CTNNB13.19
24Ovarian cancerEnrichmentAPC, CTNNB1, DICER1, RB13.10
25Neuromuscular diseaseEnrichmentEMD, LMNA2.97
26Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentEMD, LMNA2.92
27HepatoblastomaEnrichmentAPC, CTNNB12.83
28Aortic aneurysm, familial thoracic 1EnrichmentNOTCH1, SMAD32.83
29Rhabdomyosarcoma, embryonal, 2EnrichmentDICER12.56
30Mucoepithelial dysplasia, hereditaryEnrichmentSREBF12.56
31Split-hand/foot malformation 6EnrichmentWNT10B2.56
32Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.56
33Caudal duplication anomalyEnrichmentAXIN12.56
34Tooth agenesis, selective, 8EnrichmentWNT10B2.56
35Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.56
36Silver-russell syndrome 5EnrichmentHMGA22.56
37Ifap syndrome 2EnrichmentSREBF12.56
38Dicer1 syndromeEnrichmentDICER12.56
39Pleuropulmonary blastomaEnrichmentDICER12.56
40Global developmental delay, lung cysts, overgrowth, and wilms tumorEnrichmentDICER12.56
41Stature quantitative trait locus 9EnrichmentHMGA22.56
42Atypical werner syndromeEnrichmentLMNA2.56
43Malignant sertoli-leydig cell tumor of ovaryEnrichmentDICER12.56
44Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.56
45Adenoid ameloblastomaEnrichmentCTNNB12.56
46Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.56
47Mandibuloacral dysplasiaEnrichmentLMNA2.56
48Atrioventricular blockEnrichmentLMNA2.56
49Supratentorial primitive neuroectodermal tumorEnrichmentDICER12.56
50Familial adenomatous polyposisEnrichmentAPC2.56
51GynandroblastomaEnrichmentDICER12.56
52Dicer1 tumor predispositionEnrichmentDICER12.56
53Acute myeloid leukemia with mutated cebpaEnrichmentCEBPA2.56
54Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA2.56
55Gardner syndromeEnrichmentAPC2.56
565q22 microdeletion syndromeEnrichmentAPC2.56
57Attenuated familial adenomatous polyposisEnrichmentAPC2.56
58Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA2.56
59Microcystic stromal tumorEnrichmentCTNNB12.56
60Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA2.56
61LaminopathyEnrichmentLMNA2.56
62Ehlers-danlos syndromeEnrichmentSMAD3, TGFB22.56
63Buschke-ollendorff syndromeEnrichmentLEMD32.38
64Baraitser-winter syndrome 1EnrichmentACTB2.38
65PycnodysostosisEnrichmentCTSK2.38
66Melanoma, cutaneous malignant 3EnrichmentCDK42.38
67Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.38
68Brunner syndromeEnrichmentMAOA2.38
69Camurati-engelmann disease 2EnrichmentTGFB22.38
70Becker nevus syndromeEnrichmentACTB2.38
71Dystonia-deafness syndrome 1EnrichmentACTB2.38
72Congenital myopathy 17EnrichmentMYOD12.38
73Loeys-dietz syndrome 6EnrichmentSMAD22.38
7420p12.3 microdeletion syndromeEnrichmentBMP22.38
75Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.38
76Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.38
77Menke-hennekam syndrome 1EnrichmentCREBBP2.38
78Melorheostosis with osteopoikilosisEnrichmentLEMD32.38
79Trilateral retinoblastomaEnrichmentRB12.38
80Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.38
81Baraitser-winter syndromeEnrichmentACTB2.38
82Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.38
83Congenital smooth muscle hamartomaEnrichmentACTB2.38
84Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.38
85Menke-hennekam syndromeEnrichmentCREBBP2.38
86Isolated osteopoikilosisEnrichmentLEMD32.38
87Lung oat cell carcinomaEnrichmentRB12.38
88ScoliosisEnrichmentCREBBP, CTSK2.36
89Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF12.26
90Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX22.26
91Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA2.26
92Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.26
93Carotid intimal medial thickness 1EnrichmentPPARG2.26
94Myopathy, x-linked, with postural muscle atrophyEnrichmentEMD2.26
95Premature ovarian failure 3EnrichmentAGO22.26
96Heart-hand syndrome, slovenian typeEnrichmentLMNA2.26
97Salivary gland adenoma, pleomorphicEnrichmentHMGA22.26
98Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA2.26
99Goiter, multinodular 1, with or without sertoli-leydig cell tumorsEnrichmentDICER12.26
100Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA2.26
101Cardiomyopathy, dilated, 1dEnrichmentLMNA2.26
102Restrictive dermopathy 2EnrichmentLMNA2.26
103Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA2.26
104Vertebral anomalies and variable endocrine and t-cell dysfunctionEnrichmentDICER12.26
105Childhood hepatocellular carcinomaEnrichmentCTNNB12.26
106Split hand-foot malformationEnrichmentLEF12.26
107Mandibuloacral dysplasia with type b lipodystrophyEnrichmentZMPSTE242.26
108Lipodystrophy, familial partial, type 1EnrichmentLMNA2.26
109PineoblastomaEnrichmentDICER12.26
110Periampullary adenomaEnrichmentAPC2.26
111Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC2.26
112Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.26
113TeratomaEnrichmentCTNNB12.26
114Malignant granulosa cell tumor of the ovaryEnrichmentDICER12.26
115Charcot-marie-tooth disease type 2b1EnrichmentLMNA2.26
116X-linked emery-dreifuss muscular dystrophyEnrichmentEMD2.26
117Connective tissue diseaseEnrichmentNOTCH1, SMAD32.12
118Cleidocranial dysplasia 1EnrichmentRUNX22.09
119Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF12.09
120Adiponectin deficiencyEnrichmentADIPOQ2.09
121Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB12.09
122Lipodystrophy, familial partial, type 2EnrichmentLMNA2.09
123Cenani-lenz syndactyly syndromeEnrichmentAPC2.09
124Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA2.09
125Anus, imperforateEnrichmentCTNNB12.09
126Myopathy, autosomal recessive, with rigid spine and distal joint contracturesEnrichmentTOR1AIP12.09
127Exudative vitreoretinopathy 7EnrichmentCTNNB12.09
128Cleidocranial dysplasiaEnrichmentRUNX22.09
129Lessel-kreienkamp syndromeEnrichmentAGO22.09
130Colon adenocarcinomaEnrichmentAPC2.09
131Apc-associated polyposis conditionsEnrichmentAPC2.09
132Camurati-engelmann disease 1EnrichmentTGFB12.08
133Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11B2.08
134Thumb deformityEnrichmentCREBBP2.08
135Adams-oliver syndrome 5EnrichmentNOTCH12.08
136Chromosome 13q14 deletion syndromeEnrichmentRB12.08
137Muscle hypertrophyEnrichmentMSTN2.08
138Loeys-dietz syndrome 3EnrichmentSMAD32.08
139Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.08
140Myostatin-related muscle hypertrophyEnrichmentMSTN2.08
141Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.08
142Camurati-engelmann diseaseEnrichmentTGFB12.08
143OsteopoikilosisEnrichmentLEMD32.08
144Loeys-dietz syndrome 4EnrichmentTGFB22.08
145Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB2.08
146Craniosynostosis 7EnrichmentBMP22.08
147Familial retinoblastomaEnrichmentRB12.08
148Microtia-anotiaEnrichmentLMNA1.96
149Lipodystrophy, familial partial, type 3EnrichmentPPARG1.96
150PilomatrixomaEnrichmentCTNNB11.96
151Leptin deficiency or dysfunctionEnrichmentPPARG1.96
152Alazami syndromeEnrichmentCTNNB11.96
153Congenital generalized lipodystrophyEnrichmentPPARG1.96
154Mantle cell lymphomaEnrichmentCCND11.96
155Embryonal rhabdomyosarcomaEnrichmentDICER11.96
156Sick sinus syndromeEnrichmentLMNA1.96
157Silver-russell syndrome due to a point mutationEnrichmentHMGA21.96
158Pediatric systemic lupus erythematosusEnrichmentSPP11.96
159RetinoblastomaEnrichmentRB11.91
160Microphthalmia, syndromic 9EnrichmentWNT7B1.91
161Osteogenic sarcomaEnrichmentRB11.91
162Transposition of the great arteries, dextro-loopedEnrichmentBMP21.91
163Woolly hair, autosomal recessive 3EnrichmentRB11.91
164Hypotrichosis 8EnrichmentRB11.91
165Tethered spinal cord syndromeEnrichmentCREBBP1.91
166Nail disorder, nonsyndromic congenital, 9EnrichmentCTSK1.91
167Loeys-dietz syndrome 1EnrichmentSMAD21.91
168Squamous cell carcinomaEnrichmentRB11.91
169Intraocular pressure quantitative trait locusEnrichmentCREBBP1.91
170Bone osteosarcomaEnrichmentRB11.91
171KeratoacanthomaEnrichmentNOTCH11.91
172Gastric cancerEnrichmentAPC, CDK41.87
173Exudative vitreoretinopathy 1EnrichmentCTNNB11.87
174Von hippel-lindau syndromeEnrichmentCCND11.87
175Familial adenomatous polyposis 1EnrichmentAPC1.87
176Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA1.87
177Histiocytoid hemangiomaEnrichmentLMNA1.87
178Inherited acute myeloid leukemiaEnrichmentCEBPA1.87
179Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentCEBPA1.87
180Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA1.79
181Weyers acrofacial dysostosisEnrichmentCTNNB11.79
182Muscular dystrophy, limb-girdle, autosomal recessive 1EnrichmentTOR1AIP11.79
183Split-hand/foot malformation 1EnrichmentLEF11.79
184Adrenocortical carcinomaEnrichmentCTNNB11.79
185Brachydactyly, type a2EnrichmentBMP21.78
186Small cell cancer of the lungEnrichmentRB11.78
187Chondrocalcinosis 2EnrichmentTNFRSF11B1.78
188Aminoacylase 1 deficiencyEnrichmentACTB1.78
189Lynch syndrome 4EnrichmentRB11.78
190Aortic aneurysmEnrichmentSMAD31.78
191Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.78
192Bethlem myopathy 1aEnrichmentLMNA1.72
193Silver-russell syndrome 1EnrichmentHMGA21.72
194Gallbladder cancerEnrichmentCTNNB11.72
195Dilated cardiomyopathyEnrichmentEMD, LMNA1.70
196Familial isolated dilated cardiomyopathyEnrichmentLMNA, TMPO1.70
197Ventricular septal defect 1EnrichmentBMP21.69
198Exudative vitreoretinopathyEnrichmentCTNNB11.67
199Congenital muscular dystrophyEnrichmentLMNA1.67
200MyocarditisEnrichmentLMNA1.67
201Isolated split hand-split foot malformationEnrichmentWNT10B1.67
202Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA1.61
203Colonic benign neoplasmEnrichmentAPC1.61
204Myopathy, centronuclear, 1EnrichmentMYOD11.61
205Rubinstein-taybi syndrome 1EnrichmentCREBBP1.61
206Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP1.61
207Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.61
208Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.61
209HypertrichosisEnrichmentCREBBP1.61
210Leukemia, chronic lymphocyticEnrichmentCCND11.57
211Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.54
212Adams-oliver syndromeEnrichmentNOTCH11.54
213Cardiac conduction defectEnrichmentLMNA1.49
214Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA1.49
215Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA1.49
216Hemochromatosis, type 1EnrichmentBMP21.49
217Hypoplastic left heart syndromeEnrichmentNOTCH11.49
218AutismEnrichmentCREBBP, TCF7L21.45
219Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.44
220Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA1.43
221Marfan syndromeEnrichmentTGFB21.39
222Primary bone dysplasiaEnrichmentCTSK1.39
223Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA1.37
224RhabdomyosarcomaEnrichmentDICER11.37
225GliosarcomaEnrichmentPPARG1.37
226OsteochondrodysplasiaEnrichmentCTSK1.35
227Complex neurodevelopmental disorderEnrichmentAGO2, TCF7L21.35
228Cardiomyopathy, dilated, 1eEnrichmentLMNA1.34
229Polycystic liver diseaseEnrichmentCTNNB11.34
230Giant cell glioblastomaEnrichmentPPARG1.34
231Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.34
232Lip and oral cavity carcinomaEnrichmentRB11.31
233Aortic valve disease 1EnrichmentNOTCH11.28
234Cardiomyopathy, dilated, 1aEnrichmentLMNA1.25
235Centronuclear myopathyEnrichmentTOR1AIP11.25
236Lung cancer susceptibility 3EnrichmentRB11.25
237Heart diseaseEnrichmentCREBBP1.25
238Tooth agenesisEnrichmentWNT10B1.23
239Corpus callosum, agenesis ofEnrichmentCREBBP1.22
240Isolated corpus callosum agenesisEnrichmentCREBBP1.22
241Rare genetic intellectual disabilityEnrichmentCREBBP1.22
242Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.22
243Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA1.20
244Muscular dystrophyEnrichmentLMNA1.20
245Melanoma, cutaneous malignant 1EnrichmentCDK41.17
246Brugada syndromeEnrichmentLMNA1.16
247Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB11.15
248Nervous system diseaseEnrichmentCREBBP, CTNNB11.15
249Arteriovenous malformations of the brainEnrichmentLEMD31.12
250Diffuse large b-cell lymphomaEnrichmentCREBBP1.12
251Hirschsprung disease 1EnrichmentSREBF11.12
252Differentiated thyroid carcinomaEnrichmentPPARG1.12
253Macs syndromeEnrichmentWNT7B1.10
254Long qt syndromeEnrichmentLMNA1.09
255Primary autosomal recessive microcephalyEnrichmentCDK61.08
256Peripheral nervous system diseaseEnrichmentLMNA1.08
257NeuropathyEnrichmentLMNA1.08
258MicrophthalmiaEnrichmentWNT7B1.06
259Left ventricular noncompactionEnrichmentLMNA1.04
260MicrocephalyEnrichmentACTB, CTNNB11.04
261Systemic lupus erythematosusEnrichmentSPP10.99
262Tetralogy of fallotEnrichmentNOTCH10.99
263Leukemia, acute myeloidEnrichmentCEBPA0.98
264MyopathyEnrichmentEMD0.98
265Charcot-marie-tooth diseaseEnrichmentLMNA0.97
266Nephrotic syndromeEnrichmentRUNX20.95
267Hereditary breast carcinomaEnrichmentAPC0.95
268Cystic fibrosisEnrichmentTGFB10.91
269Body mass index quantitative trait locus 11EnrichmentPPARG0.89
270Fetal akinesia deformation sequence 1EnrichmentMYOD10.85
271Myeloma, multipleEnrichmentCCND10.85
272Distal arthrogryposisEnrichmentMYOD10.80
273Breast cancerEnrichmentAPC0.73

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