SMAD Signaling Network

No Pathway Network information available for SMAD Signaling Network

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

Disorders associated with SMAD Signaling Network SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA2, FLNA, SKI, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR210.38
2Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR210.19
3Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR26.17
4Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR24.11
5Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.11
6Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB4, PSMB94.11
7Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B4.11
8Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB34.11
9Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.11
10Connective tissue diseaseEnrichmentACTA2, FLNB, SMAD3, TGFBR23.76
11Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB4, PSMB83.64
12Proteosome-associated autoinflammatory syndromeEnrichmentPSMB4, PSMB83.64
13Aortic aneurysmEnrichmentSMAD3, TGFBR13.34
14Pseudomyogenic hemangioendotheliomaEnrichmentACTB, FOSB3.34
15Patent foramen ovaleEnrichmentFLNA, FLNC, PSMC33.30
16Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR23.23
17Ventricular septal defect 1EnrichmentBMP2, BMP73.12
18Histiocytoid hemangiomaEnrichmentFOS, FOSB3.12
19Atrial septal defect 1EnrichmentBMP2, TGFB22.94
20Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3002.94
21Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3002.94
22Patent ductus arteriosusEnrichmentFLNA, PSMC32.94
23Hemochromatosis, type 1EnrichmentBMP2, BMP62.68
24Fanconi anemia, complementation group cEnrichmentFLNA, HDAC82.68
25Nemaline myopathyEnrichmentACTA1, FLNC2.48
26MicrocephalyEnrichmentACTB, ACTG1, EP300, HDAC8, PSMC32.33
27Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.12
28Septopreoptic holoprosencephalyEnrichmentFOXH1, TGIF12.12
29Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH1, TGIF12.12
30Microform holoprosencephalyEnrichmentFOXH1, TGIF12.07
31Lobar holoprosencephalyEnrichmentFOXH1, TGIF12.07
32Boomerang dysplasiaEnrichmentFLNB2.05
33Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaEnrichmentHDAC62.05
34Baraitser-winter syndrome 1EnrichmentACTB2.05
35Otopalatodigital syndrome, type iEnrichmentFLNA2.05
36Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linkedEnrichmentFLNA2.05
37Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.05
38Atelosteogenesis, type iiiEnrichmentFLNB2.05
39Atelosteogenesis, type iEnrichmentFLNB2.05
40Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.05
41Holoprosencephaly 4EnrichmentTGIF12.05
42Johanson-blizzard syndromeEnrichmentUBR12.05
43Spastic paraplegia and psychomotor retardation with or without seizuresEnrichmentHACE12.05
44Myopathy, scapulohumeroperonealEnrichmentACTA12.05
45Caudal duplication anomalyEnrichmentAXIN12.05
46Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI2.05
47Kaufman oculocerebrofacial syndromeEnrichmentUBE3B2.05
48Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.05
49Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.05
50Auriculocondylar syndrome 4EnrichmentHDAC92.05
51Terminal osseous dysplasiaEnrichmentFLNA2.05
52Cornelia de lange syndrome 5EnrichmentHDAC82.05
53Ovarian dysgenesis 2EnrichmentBMP152.05
54Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.05
55Fg syndrome 2EnrichmentFLNA2.05
56Microphthalmia, syndromic 6EnrichmentBMP42.05
57Orofacial cleft 11EnrichmentBMP42.05
58Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC32.05
59Camurati-engelmann disease 2EnrichmentTGFB22.05
60Otopalatodigital syndrome spectrum disorderEnrichmentFLNA2.05
61Becker nevus syndromeEnrichmentACTB2.05
62Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.05
63Dystonia-deafness syndrome 1EnrichmentACTB2.05
64Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.05
65Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.05
66Iron overloadEnrichmentBMP62.05
67Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.05
68Proteasome-associated autoinflammatory syndrome 6EnrichmentPSMB92.05
69Achromatopsia 7EnrichmentATF62.05
70Loeys-dietz syndrome 6EnrichmentSMAD22.05
71Autosomal dominant familial visceral neuropathyEnrichmentACTG22.05
72Loeys-dietz syndrome 5EnrichmentTGFB32.05
73Cardiac, facial, and digital anomalies with developmental delayEnrichmentTRAF72.05
7420p12.3 microdeletion syndromeEnrichmentBMP22.05
75X-linked ehlers-danlos syndromeEnrichmentFLNA2.05
76Neurodevelopmental disorder with absent speech and movement and behavioral abnormalitiesEnrichmentUBE3C2.05
77Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.05
78Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP22.05
79Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.05
80Menke-hennekam syndrome 1EnrichmentCREBBP2.05
81Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.05
82Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.05
83Immature teratoma of ovaryEnrichmentBMP152.05
84Spastic paraplegia-severe developmental delay-epilepsy syndromeEnrichmentHACE12.05
85Baraitser-winter syndromeEnrichmentACTB2.05
86Heritable thoracic aortic diseaseEnrichmentSMAD42.05
87Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.05
88Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.05
89Neurodevelopmental disorder with speech delay and behavioral abnormalitiesEnrichmentUBR52.05
90Chromosome 15q24 deletion syndromeEnrichmentSIN3A2.05
91Flnb-related disordersEnrichmentFLNB2.05
92Traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndromeEnrichmentTRAF72.05
93Zebra body myopathyEnrichmentACTA12.05
94Congenital smooth muscle hamartomaEnrichmentACTB2.05
95Aplasia cutis-enamel dysplasia syndromeEnrichmentFOSL22.05
96Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.05
97Menke-hennekam syndromeEnrichmentCREBBP2.05
9815q11q13 microduplication syndromeEnrichmentUBE3A2.05
99X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndromeEnrichmentFLNA2.05
100Actin-accumulation myopathyEnrichmentACTA12.05
101Myopathic intestinal pseudoobstructionEnrichmentACTG22.05
102Actg2 visceral myopathyEnrichmentACTG22.05
103Alobar holoprosencephalyEnrichmentFOXH1, TGIF12.01
104Semilobar holoprosencephalyEnrichmentFOXH1, TGIF11.97
105Myhre syndromeEnrichmentSMAD41.75
106Camurati-engelmann disease 1EnrichmentTGFB11.75
107Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentFLNA1.75
108Thumb deformityEnrichmentCREBBP1.75
109Otopalatodigital syndrome, type iiEnrichmentFLNA1.75
110Melnick-needles syndromeEnrichmentFLNA1.75
111Frontometaphyseal dysplasia 1EnrichmentFLNA1.75
112Aortic aneurysm, familial thoracic 2EnrichmentACTA21.75
113Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.75
114Microvascular complications of diabetes 5EnrichmentTGFBR21.75
115Deafness, autosomal dominant 20EnrichmentACTG11.75
116Smooth muscle dysfunction syndromeEnrichmentACTA21.75
117Aortic aneurysm, familial thoracic 6EnrichmentACTA21.75
118Baraitser-winter syndrome 2EnrichmentACTG11.75
119Osteogenesis imperfecta, type xiiiEnrichmentBMP11.75
120Moyamoya disease 5EnrichmentACTA21.75
121Syndactyly, type iiiEnrichmentHDAC81.75
122Neurodevelopmental disorder with hypotonia, seizures, and absent languageEnrichmentHECW21.75
123Loeys-dietz syndrome 3EnrichmentSMAD31.75
124Proteasome-associated autoinflammatory syndrome 5EnrichmentPSMB101.75
125Immunodeficiency 121 with autoinflammationEnrichmentPSMB101.75
126Birk-aharoni syndromeEnrichmentPSMC11.75
127Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.75
128Cardiac valvular dysplasia, x-linkedEnrichmentFLNA1.75
129Spondyloepiphyseal dysplasia, nishimura typeEnrichmentWWP21.75
130Spinocerebellar ataxia 48EnrichmentSTUB11.75
131Menke-hennekam syndrome 2EnrichmentEP3001.75
132Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.75
133Wilson-turner syndromeEnrichmentHDAC81.75
134Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.75
135Cardiovascular system diseaseEnrichmentFLNC1.75
136Camurati-engelmann diseaseEnrichmentTGFB11.75
137Craniosynostosis 7EnrichmentBMP21.75
138Blepharophimosis - intellectual disability syndromeEnrichmentUBE3B1.75
139Multifocal pattern dystrophy simulating fundus flavimaculatusEnrichmentUBR21.75
140Primary mediastinal large b-cell lymphomaEnrichmentXPO11.75
141Angelman syndrome due to maternal 15q11q13 deletionEnrichmentUBE3A1.75
142Intestinal obstructionEnrichmentACTG21.75
143Prune belly syndromeEnrichmentFLNA1.58
144Larsen syndromeEnrichmentFLNB1.58
145Juvenile polyposis syndromeEnrichmentSMAD41.58
146Arterial tortuosity syndromeEnrichmentFLNA1.58
147Periventricular nodular heterotopia 1EnrichmentFLNA1.58
148Myopathy, myofibrillar, 5EnrichmentFLNC1.58
149Transposition of the great arteries, dextro-loopedEnrichmentBMP21.58
150Spondylocarpotarsal synostosis syndromeEnrichmentFLNB1.58
151Congenital short bowel syndromeEnrichmentFLNA1.58
152Myopathy, distal, 4EnrichmentFLNC1.58
153Tethered spinal cord syndromeEnrichmentCREBBP1.58
154Frontometaphyseal dysplasiaEnrichmentFLNA1.58
155Intraocular pressure quantitative trait locusEnrichmentCREBBP1.58
156High bone mass osteogenesis imperfectaEnrichmentBMP11.58
157Melanoma of soft tissueEnrichmentATF11.58
158Thyroid hemiagenesisEnrichmentPSMD31.58
159Angelman syndrome due to imprinting defect in 15q11-q13EnrichmentUBE3A1.58
160Brachydactyly, type a2EnrichmentBMP21.46
161Nemaline myopathy 2EnrichmentACTA11.46
162Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.46
163Autoimmune lymphoproliferative syndromeEnrichmentACTA21.46
164Microtia-anotiaEnrichmentBMP51.46
165Aminoacylase 1 deficiencyEnrichmentACTB1.46
166Cardiomyopathy, familial hypertrophic, 26EnrichmentFLNC1.46
167Congenital generalized lipodystrophyEnrichmentFOS1.46
168Intermediate nemaline myopathyEnrichmentACTA11.46
169Hemifacial hyperplasiaEnrichmentFLNC1.36
170Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.36
171Visceral myopathy 1EnrichmentACTG21.36
172Congenital myopathy 3 with rigid spineEnrichmentACTA11.36
173Atrioventricular septal defectEnrichmentBMP51.36
174Goldberg-shprintzen syndromeEnrichmentSKI1.36
175Rubinstein-taybi syndrome 2EnrichmentEP3001.36
176Congenital heart defects, multiple types, 4EnrichmentBMP71.36
177Heart conduction diseaseEnrichmentFLNC1.36
178Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.36
179Coloboma of choroid and retinaEnrichmentACTG11.36
180Severe congenital nemaline myopathyEnrichmentACTA11.36
181Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.36
182Angelman syndromeEnrichmentUBE3A1.28
183Developmental dysplasia of the hip 1EnrichmentPSMC31.28
184Wolf-hirschhorn syndromeEnrichmentCTBP11.28
185Moyamoya disease 1EnrichmentACTA21.28
186Anterior segment dysgenesis 5EnrichmentBMP41.28
187Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.28
188Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB11.28
189Intestinal pseudo-obstructionEnrichmentACTG21.28
190Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.28
191HypertrichosisEnrichmentCREBBP1.28
192Classic ehlers-danlos syndromeEnrichmentTGFBR11.28
193Inherited arrhythmogenic cardiomyopathyEnrichmentFLNC1.28
194Typical nemaline myopathyEnrichmentACTA11.28
195Esophageal cancerEnrichmentTGFBR21.22
196Gallbladder cancerEnrichmentSMAD41.22
197Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.22
198Myofibrillar myopathyEnrichmentFLNC1.22
199Childhood-onset nemaline myopathyEnrichmentACTA11.22
200Familial isolated restrictive cardiomyopathyEnrichmentFLNC1.22
201NeuroblastomaEnrichmentHACE11.16
202Cornelia de lange syndrome 1EnrichmentHDAC81.11
203Charge syndromeEnrichmentEP3001.11
204Adult hepatocellular carcinomaEnrichmentAXIN11.11
205Cornelia de lange syndromeEnrichmentHDAC81.11
206Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.11
207Cat eye syndromeEnrichmentACTG11.07
208Peters-plus syndromeEnrichmentBMP41.07
209Omenn syndromeEnrichmentPSMB101.07
210Stickler syndromeEnrichmentBMP41.07
211PolymicrogyriaEnrichmentPSMC31.07
212AchromatopsiaEnrichmentATF61.07
213Pectus excavatumEnrichmentTGFBR11.03
214Atrial heart septal defectEnrichmentHDAC81.03
215Interatrial communicationEnrichmentHDAC81.03
216Cardiac conduction defectEnrichmentFLNC0.99
217Renal hypodysplasia/aplasia 3EnrichmentBMP40.99
218MeningiomaEnrichmentTRAF70.99
219Restrictive cardiomyopathyEnrichmentFLNC0.99
22046 xx gonadal dysgenesisEnrichmentBMP150.99
221Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB30.99
222Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB30.99
223Chromosome 1p36 deletion syndromeEnrichmentSKI0.96
224Aortic aneurysm, familial thoracic 1EnrichmentSMAD30.93
225Lung cancer susceptibility 3EnrichmentACTA20.93
226Periventricular nodular heterotopiaEnrichmentFLNA0.93
227Heart diseaseEnrichmentCREBBP0.93
228Cleft lip/palateEnrichmentBMP40.93
229Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB30.93
230Polydactyly, postaxial, type a1EnrichmentEP3000.90
231Congenital myopathy 4a, autosomal dominantEnrichmentACTA10.90
232Corpus callosum, agenesis ofEnrichmentCREBBP0.90
233Osteogenesis imperfecta, type iiiEnrichmentBMP10.90
234Lynch syndromeEnrichmentTGFBR20.90
235Isolated corpus callosum agenesisEnrichmentCREBBP0.90
236Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP0.90
237Arrhythmogenic right ventricular cardiomyopathyEnrichmentFLNC0.88
238Cleft palate, isolatedEnrichmentFLNA0.85
239Neuromuscular diseaseEnrichmentACTA10.83
240Polycystic kidney diseaseEnrichmentHDAC80.83
241Diffuse large b-cell lymphomaEnrichmentCREBBP0.81
242Congenital myopathyEnrichmentACTA10.81
243Dilated cardiomyopathyEnrichmentACTA1, FLNC0.80
244Cardiomyopathy, dilated, 1aEnrichmentFLNC0.77
245LissencephalyEnrichmentACTG10.77
246Centronuclear myopathyEnrichmentACTA10.77
247Hepatocellular carcinomaEnrichmentAXIN10.75
248Myocardial infarctionEnrichmentPSMA60.75
249Visceral heterotaxyEnrichmentLEFTY20.75
250Colorectal cancerEnrichmentEP300, SMAD40.75
251Brittle bone disorderEnrichmentBMP10.73
252Cardiomyopathy, familial hypertrophic, 1EnrichmentFLNC0.72
253Autoinflammatory diseaseEnrichmentPSMB80.72
254ScoliosisEnrichmentCREBBP0.72
255Pancreatic cancerEnrichmentSMAD40.70
256Tetralogy of fallotEnrichmentFLNC0.69
257Hydrops fetalis, nonimmuneEnrichmentACTA10.69
258Non-immune hydrops fetalisEnrichmentACTA10.62
259Congenital nervous system abnormalityEnrichmentCREBBP, HECW20.62
260Nervous system diseaseEnrichmentCREBBP, HECW20.62
261Lung cancerEnrichmentACTA20.61
262Cystic fibrosisEnrichmentTGFB10.61
263Familial hypertrophic cardiomyopathyEnrichmentFLNC0.59
264CakutEnrichmentACTG10.58
265Non-syndromic genetic deafnessEnrichmentACTG10.56
266Fetal akinesia deformation sequence 1EnrichmentACTA10.55
267MyopathyEnrichmentACTA10.52
268Distal arthrogryposisEnrichmentACTA10.51
269Nonsyndromic hearing lossEnrichmentACTG10.51
270Gastric cancerEnrichmentSMAD40.50
271ThrombocytopeniaEnrichmentSMAD40.46
272Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.43
273Spastic ataxiaEnrichmentFLNC0.42
274Myeloma, multipleEnrichmentCREBBP0.41
275Primary ovarian insufficiencyEnrichmentBMP60.39
276Cone-rod dystrophy 2EnrichmentATF60.34
277AutismEnrichmentCREBBP0.32
278Breast cancerEnrichmentJUN0.31
279Rare genetic deafnessEnrichmentACTG10.30
280Inherited cancer-predisposing syndromeEnrichmentSMAD40.16
281Hereditary retinal dystrophyEnrichmentATF6, UBR20.14
282Fundus dystrophyEnrichmentATF6, UBR20.14

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