TGF-beta receptor signaling activates SMADs

Pathway network for the TGF-beta receptor signaling activates SMADs SuperPath

Sources:
  • Reactome
  • WikiPathways

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

Disorders associated with TGF-beta receptor signaling activates SMADs SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFBN1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR211.34
2Loeys-dietz syndromeEnrichmentFBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR211.25
3Marfan syndromeEnrichmentFBN1, LTBP2, TGFB2, TGFBR1, TGFBR210.06
4Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR29.95
5Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR27.19
6Aortic aneurysmEnrichmentFBN1, SMAD3, TGFBR16.81
7Acromicric dysplasiaEnrichmentFBN1, LTBP34.93
8Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB34.93
9Weill-marchesani syndrome 1EnrichmentFBN1, LTBP24.45
10Geleophysic dysplasiaEnrichmentFBN1, LTBP34.45
11Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR24.44
12Weill-marchesani syndromeEnrichmentFBN1, LTBP24.15
13Connective tissue diseaseEnrichmentSMAD3, TGFBR23.95
14Multiple self-healing squamous epitheliomaEnrichmentTGFBR13.53
15Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR23.53
16Familial thoracic aortic aneurysm and dissectionEnrichmentFBN1, SMAD33.38
17Loeys-dietz syndrome 6EnrichmentSMAD23.29
18Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD23.29
19Heritable thoracic aortic diseaseEnrichmentSMAD43.29
20Camurati-engelmann disease 1EnrichmentTGFB13.23
21Microvascular complications of diabetes 5EnrichmentTGFBR23.23
22Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB13.23
23Camurati-engelmann diseaseEnrichmentTGFB13.23
24Pectus excavatumEnrichmentFBN1, TGFBR13.20
25Myhre syndromeEnrichmentSMAD42.99
26Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.99
27Loeys-dietz syndrome 3EnrichmentSMAD32.99
28Aortic aneurysm, familial thoracic 1EnrichmentFBN1, SMAD32.98
29Juvenile polyposis syndromeEnrichmentSMAD42.81
30Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB12.75
31Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB12.75
32Classic ehlers-danlos syndromeEnrichmentTGFBR12.75
33Colorectal cancer 3EnrichmentSMAD72.72
34Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.72
35Periventricular nodular heterotopia 7EnrichmentNEDD4L2.72
36Esophageal cancerEnrichmentTGFBR22.69
37Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD42.59
38Noonan syndrome 1EnrichmentCBL, PPP1CB2.55
39Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN12.46
40Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP22.46
41Glaucoma 3, primary congenital, dEnrichmentLTBP22.46
42Weill-marchesani syndrome 2EnrichmentFBN12.46
43Geleophysic dysplasia 2EnrichmentFBN12.46
44Protrusio acetabuliEnrichmentFBN12.46
45Weill-marchesani syndrome 3EnrichmentLTBP22.46
46Lymphoplasmacytic lymphomaEnrichmentFBN12.46
47Camurati-engelmann disease 2EnrichmentTGFB22.46
48Geleophysic dysplasia 3EnrichmentLTBP32.46
49Loeys-dietz syndrome 5EnrichmentTGFB32.46
50Cutis laxa, autosomal recessive, type iieEnrichmentLTBP12.46
51Amelogenesis imperfecta, type ihEnrichmentITGB62.46
52Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP22.46
53Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.46
54Neonatal marfan syndromeEnrichmentFBN12.46
55Gallbladder cancerEnrichmentSMAD42.44
56Hereditary hemorrhagic telangiectasiaEnrichmentSMAD42.44
57RasopathyEnrichmentCBL, PPP1CB2.44
58Spinocerebellar ataxia 48EnrichmentSTUB12.42
59Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB2.42
60Primary mediastinal large b-cell lymphomaEnrichmentXPO12.42
61Submucosal cleft palateEnrichmentUBB2.42
62Cleft hard palateEnrichmentUBB2.42
63Lynch syndromeEnrichmentTGFBR22.35
64Uvula, bifidEnrichmentUBB2.24
65Cleft soft palateEnrichmentUBB2.24
66Chromosome 5q14.3 deletion syndrome, distalEnrichmentNEDD4L2.24
67Stiff skin syndromeEnrichmentFBN12.16
68Ovarian germ cell cancerEnrichmentCBL2.16
69Cutis laxa, autosomal recessive, type icEnrichmentLTBP42.16
70Beaulieu-boycott-innes syndromeEnrichmentFBN12.16
71Aortic dissectionEnrichmentFBN12.16
72Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN12.16
73Malignant germ cell tumor of ovaryEnrichmentCBL2.16
74Lens subluxationEnrichmentFBN12.16
75Cystic fibrosisEnrichmentTGFB12.03
76Contractural arachnodactyly, congenitalEnrichmentFBN11.98
77Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.98
78AchondroplasiaEnrichmentFBN11.98
79Mccune-albright syndromeEnrichmentFBN11.98
80Exfoliation syndromeEnrichmentLTBP21.98
81Bleeding disorder, platelet-type, 16EnrichmentITGB31.98
82Muscular dystrophy, duchenne typeEnrichmentLTBP41.98
83Autosomal recessive cutis laxa type iEnrichmentLTBP11.98
84Isolated ectopia lentisEnrichmentFBN11.98
85Bleeding disorder, platelet-type, 24EnrichmentITGB31.98
86Alopecia - intellectual disability syndromeEnrichmentITGB61.98
87Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB11.94
88ThrombocytopeniaEnrichmentITGB3, SMAD41.92
89Pancreatic cancerEnrichmentSMAD41.89
90Amelogenesis imperfecta, type iiiaEnrichmentITGB61.86
91Glaucoma 3, primary infantile, bEnrichmentLTBP21.86
92Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL1.86
93Mitral valve insufficiencyEnrichmentFBN11.86
94Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN11.76
95Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.76
96Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN11.76
97Goldberg-shprintzen syndromeEnrichmentFBN11.76
98Glanzmann thrombasthenia 2EnrichmentITGB31.76
99Polycystic liver disease 1EnrichmentFBN11.76
100Myeloproliferative neoplasmEnrichmentCBL1.76
101Juvenile glaucomaEnrichmentLTBP21.76
102Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.76
103Aggressive systemic mastocytosisEnrichmentCBL1.76
104Familial cerebral saccular aneurysmEnrichmentTGFBR31.76
105Atrial septal defect 1EnrichmentTGFB21.69
106Glaucoma, primary open angleEnrichmentLTBP21.69
107Dental anomalies and short statureEnrichmentLTBP31.69
108Inguinal herniaEnrichmentFBN11.69
109Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.69
110Gastric cancerEnrichmentSMAD41.66
111Glaucoma 3, primary congenital, aEnrichmentLTBP21.62
112Brugada syndrome 1EnrichmentFBN11.62
113Glanzmann thrombasthenia 1EnrichmentITGB31.62
114Periventricular nodular heterotopiaEnrichmentNEDD4L1.58
115Renal hypodysplasia/aplasia 1EnrichmentITGA81.56
116Orthostatic intoleranceEnrichmentFBN11.56
117Renal agenesis, bilateralEnrichmentITGA81.51
118Dandy-walker syndromeEnrichmentPPP1CB1.49
119Amelogenesis imperfecta, type ieEnrichmentITGB61.47
120Stroke, ischemicEnrichmentFBN11.47
121MelanomaEnrichmentFBN11.47
122Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.47
123Juvenile myelomonocytic leukemiaEnrichmentCBL1.39
124Cutis laxaEnrichmentLTBP41.39
125Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB31.39
126Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB31.39
127Colorectal cancerEnrichmentSMAD41.36
128Diaphragmatic hernia, congenitalEnrichmentFBN11.36
129Neural tube defectsEnrichmentITGB11.36
130Amelogenesis imperfectaEnrichmentLTBP31.36
131Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB31.32
132MyopiaEnrichmentFBN11.29
133Noonan syndrome and noonan-related syndromeEnrichmentCBL1.29
134Perrault syndrome 1EnrichmentFBN11.27
135RhabdomyosarcomaEnrichmentCBL1.27
136Inherited cancer-predisposing syndromeEnrichmentSMAD41.18
137Myocardial infarctionEnrichmentITGB31.13
138ScoliosisEnrichmentFBN11.10
139Severe covid-19EnrichmentITGAV1.02
140MyopathyEnrichmentFBN10.89
141Dilated cardiomyopathyEnrichmentFBN10.61

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