TGF-beta receptor signaling

No Pathway Network information available for TGF-beta receptor signaling

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

Disorders associated with TGF-beta receptor signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFB3, TGFBR1, TGFBR210.08
2Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD2, SMAD3, SMAD4, TGFB3, TGFBR1, TGFBR27.93
3Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR27.33
4Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.88
5Aortic aneurysmEnrichmentSMAD3, TGFBR14.10
6Diffuse cutaneous systemic sclerosisEnrichmentCAV1, CCN23.88
7Limited sclerodermaEnrichmentCAV1, CCN23.70
8Gallbladder cancerEnrichmentCTNNB1, SMAD43.56
9Adult hepatocellular carcinomaEnrichmentAXIN1, CTNNB13.33
10Marfan syndromeEnrichmentTGFBR1, TGFBR23.23
11Ehlers-danlos syndromeEnrichmentSMAD3, TGFBR22.66
12Hepatocellular carcinomaEnrichmentAXIN1, CTNNB12.53
13Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.43
14Pseudo-torch syndrome 1EnrichmentOCLN2.43
15Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP2.43
16Noonan syndrome 4EnrichmentSOS12.43
17Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.43
18Char syndromeEnrichmentTFAP2B2.43
19Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual developmentEnrichmentYAP12.43
20Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.43
21Caudal duplication anomalyEnrichmentAXIN12.43
22Frontometaphyseal dysplasia 2EnrichmentMAP3K72.43
23Pulmonary hypertension, primary, 3EnrichmentCAV12.43
24Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.43
25Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN12.43
26Lipodystrophy, familial partial, type 7EnrichmentCAV12.43
27Uveal coloboma-cleft lip and palate-intellectual disabilityEnrichmentYAP12.43
28Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH2.43
29Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.43
30Loeys-dietz syndrome 6EnrichmentSMAD22.43
31Colorectal cancer 3EnrichmentSMAD72.43
32Patent ductus arteriosus 2EnrichmentTFAP2B2.43
33Loeys-dietz syndrome 5EnrichmentTGFB32.43
34Periventricular nodular heterotopia 7EnrichmentNEDD4L2.43
35Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.43
36Craniometadiaphyseal osteosclerosis with hip dysplasiaEnrichmentAXIN12.43
37Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.43
38Adenoid ameloblastomaEnrichmentCTNNB12.43
39Heritable thoracic aortic diseaseEnrichmentSMAD42.43
40Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH2.43
41Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.43
42Microcystic stromal tumorEnrichmentCTNNB12.43
43Connective tissue diseaseEnrichmentSMAD3, TGFBR22.21
44Fibromatosis, gingival, 1EnrichmentSOS12.13
45Myhre syndromeEnrichmentSMAD42.13
46Camurati-engelmann disease 1EnrichmentTGFB12.13
47Kyphomelic dysplasiaEnrichmentCCN22.13
48Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.13
49Pulmonic stenosisEnrichmentSOS12.13
50Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.13
51Microvascular complications of diabetes 5EnrichmentTGFBR22.13
52Loeys-dietz syndrome 3EnrichmentSMAD32.13
53Spondyloepimetaphyseal dysplasia, li-shao-li typeEnrichmentCCN22.13
54Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.13
55Childhood hepatocellular carcinomaEnrichmentCTNNB12.13
56Camurati-engelmann diseaseEnrichmentTGFB12.13
57Loeys-dietz syndrome 4EnrichmentTGFB32.13
58Houge-janssens syndrome 3EnrichmentPPP2CA2.13
59Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.13
60TeratomaEnrichmentCTNNB12.13
61Familial patent arterial ductEnrichmentTFAP2B2.13
62Desmoid disease, hereditaryEnrichmentCTNNB11.96
63Juvenile polyposis syndromeEnrichmentSMAD41.96
64Nuchal bleb, familialEnrichmentSOS11.96
65Chromosome 5q14.3 deletion syndrome, distalEnrichmentNEDD4L1.96
66Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.96
67Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.96
68Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.96
69Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.96
70Anus, imperforateEnrichmentCTNNB11.96
71Exudative vitreoretinopathy 7EnrichmentCTNNB11.96
72Desmoid tumorEnrichmentCTNNB11.96
73Frontometaphyseal dysplasiaEnrichmentMAP3K71.96
74PilomatrixomaEnrichmentCTNNB11.83
75Lymphoproliferative syndrome 2EnrichmentXIAP1.83
76Alazami syndromeEnrichmentCTNNB11.83
77Malignant epithelioid hemangioendotheliomaEnrichmentYAP11.83
78CraniopharyngiomaEnrichmentCTNNB11.83
79Gingival fibromatosisEnrichmentSOS11.83
80Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.74
81Exudative vitreoretinopathy 1EnrichmentCTNNB11.74
82Pervasive developmental disorderEnrichmentSPTBN11.74
83Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.74
84Endometrial stromal sarcomaEnrichmentYWHAE1.74
85Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.74
86Rare pervasive developmental disorderEnrichmentSPTBN11.74
87Familial cerebral saccular aneurysmEnrichmentTGFBR31.74
88Weyers acrofacial dysostosisEnrichmentCTNNB11.66
89Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.66
90Intestinal pseudo-obstructionEnrichmentTFAP2B1.66
91Adrenocortical carcinomaEnrichmentCTNNB11.66
92Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.66
93Classic ehlers-danlos syndromeEnrichmentTGFBR11.66
94Kidney clear cell sarcomaEnrichmentYWHAE1.66
95Esophageal cancerEnrichmentTGFBR21.59
96Noonan syndrome 3EnrichmentSOS11.59
97Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.59
98Exudative vitreoretinopathyEnrichmentCTNNB11.54
99Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.49
100Pectus excavatumEnrichmentTGFBR11.40
101Heritable pulmonary arterial hypertensionEnrichmentCAV11.40
102Colorectal cancerEnrichmentCTNNB1, SMAD41.39
103Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB31.36
104Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB31.36
105Aortic valve disease 1EnrichmentSOS11.33
106Microphthalmia/coloboma 12EnrichmentYAP11.33
107Acute promyelocytic leukemiaEnrichmentPML1.33
108MedulloblastomaEnrichmentCTNNB11.30
109Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.30
110Periventricular nodular heterotopiaEnrichmentNEDD4L1.30
111Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB31.30
11246,xy partial gonadal dysgenesisEnrichmentSOS11.30
113Coloboma of maculaEnrichmentYAP11.27
114Lynch syndromeEnrichmentTGFBR21.27
115Noonan syndrome and noonan-related syndromeEnrichmentSOS11.27
116Isolated congenital microcephalyEnrichmentOCLN1.24
117Polycystic liver diseaseEnrichmentCTNNB11.22
118Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.22
119Arteriovenous malformations of the brainEnrichmentZFYVE161.17
120CraniosynostosisEnrichmentTFAP2B1.15
121HepatoblastomaEnrichmentCTNNB11.13
122Complex neurodevelopmental disorderEnrichmentPPP2CA, SPTBN11.12
123Noonan syndrome 1EnrichmentSOS11.09
124Autoinflammatory diseaseEnrichmentXIAP1.07
125Pancreatic cancerEnrichmentSMAD41.05
126RasopathyEnrichmentSOS11.04
127Bladder cancerEnrichmentCTNNB10.99
128Cystic fibrosisEnrichmentTGFB10.95
129Gastric cancerEnrichmentSMAD40.83
130ThrombocytopeniaEnrichmentSMAD40.79
131Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A0.77
132Myeloma, multipleEnrichmentYAP10.73
133Breast cancerEnrichmentSHC10.62
134Ovarian cancerEnrichmentCTNNB10.51
135Congenital nervous system abnormalityEnrichmentCTNNB10.49
136Nervous system diseaseEnrichmentCTNNB10.49
137MicrocephalyEnrichmentCTNNB10.44
138Inherited cancer-predisposing syndromeEnrichmentSMAD40.41

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