Signaling by TGFBR3

Pathway network for the Signaling by TGFBR3 SuperPath

Sources:
  • Reactome

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

Disorders associated with Signaling by TGFBR3 SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndromeEnrichmentTGFB2, TGFBR1, TGFBR27.95
2Marfan syndromeEnrichmentTGFB2, TGFBR1, TGFBR27.79
3Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR26.52
4Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSMAD3, SMAD4, TGFB2, TGFBR1, TGFBR26.45
5Loeys-dietz syndrome 1EnrichmentTGFBR1, TGFBR26.04
6Alzheimer disease 4EnrichmentPSEN1, PSEN25.75
7Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN24.90
8Ehlers-danlos syndromeEnrichmentSMAD3, TGFB2, TGFBR24.47
9Myopathy, centronuclear, 1EnrichmentMYF6, MYOD14.31
10Aortic aneurysmEnrichmentSMAD3, TGFBR14.17
11Multiple self-healing squamous epitheliomaEnrichmentTGFBR13.23
12Camurati-engelmann disease 2EnrichmentTGFB23.23
13Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR23.23
14Oculopharyngodistal myopathy 2EnrichmentGIPC13.23
15Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN23.09
16Acne inversa, familial, 1EnrichmentNCSTN3.09
17Winchester syndromeEnrichmentMMP143.09
18Cardiomyopathy, dilated, 1vEnrichmentPSEN23.09
19Cardiomyopathy, dilated, 1uEnrichmentPSEN13.09
20Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN3.09
21Acne inversa, familial, 3EnrichmentPSEN13.09
22Pash syndromeEnrichmentNCSTN3.09
23Huntington's disease-likeEnrichmentPSEN23.09
24Autism spectrum disorderEnrichmentTCF12, TCF4, TNRC6B2.99
25Camurati-engelmann disease 1EnrichmentTGFB12.93
26Microvascular complications of diabetes 5EnrichmentTGFBR22.93
27Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.93
28Camurati-engelmann diseaseEnrichmentTGFB12.93
29Loeys-dietz syndrome 4EnrichmentTGFB22.93
30Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, TNRC6B2.83
31Alzheimer disease 3EnrichmentPSEN12.79
32Pick disease of brainEnrichmentPSEN12.79
33Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS2.73
34Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B2.73
35Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF32.73
36Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF32.73
37Ophthalmoplegia, external, with rib and vertebral anomaliesEnrichmentMYF52.73
38Craniosynostosis 3EnrichmentTCF122.73
39Congenital myopathy 17EnrichmentMYOD12.73
40Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF42.73
41Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A2.73
42Heritable thoracic aortic diseaseEnrichmentSMAD42.73
43Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF122.73
44Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP142.61
45Familial cerebral saccular aneurysmEnrichmentTGFBR32.53
46Dowling-degos diseaseEnrichmentPSENEN2.49
47Ovary adenocarcinomaEnrichmentINHBA2.47
48Atrial septal defect 1EnrichmentTGFB22.45
49Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB12.45
50Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB12.45
51Classic ehlers-danlos syndromeEnrichmentTGFBR12.45
52Myhre syndromeEnrichmentSMAD42.43
53Premature ovarian failure 3EnrichmentAGO22.43
54Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.43
55Loeys-dietz syndrome 3EnrichmentSMAD32.43
56Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO12.43
57Menke-hennekam syndrome 2EnrichmentEP3002.43
58Megalencephaly-polydactyly syndromeEnrichmentMYCN2.43
59B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF32.43
60Familial retinoblastomaEnrichmentMYCN2.43
61B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF32.43
62DementiaEnrichmentPSEN12.39
63Esophageal cancerEnrichmentTGFBR22.38
64Oculopharyngodistal myopathy 1EnrichmentGIPC12.38
65Myeloma, multipleEnrichmentRXRA, TCF32.33
66Telangiectasia, hereditary hemorrhagic, type 1EnrichmentPSEN12.31
67Connective tissue diseaseEnrichmentSMAD3, TGFBR22.28
68RetinoblastomaEnrichmentMYCN2.26
69Juvenile polyposis syndromeEnrichmentSMAD42.26
70Lessel-kreienkamp syndromeEnrichmentAGO22.26
71Semantic dementiaEnrichmentPSEN12.25
72Pectus excavatumEnrichmentTGFBR12.19
73Progressive non-fluent aphasiaEnrichmentPSEN12.14
74Behavioral variant of frontotemporal dementiaEnrichmentPSEN12.14
75Pitt-hopkins syndromeEnrichmentTCF42.13
76Non-syndromic bicoronal craniosynostosisEnrichmentTCF122.13
77Lynch syndromeEnrichmentTGFBR22.05
78Frontotemporal dementia 1EnrichmentPSEN12.05
79Feingold syndrome 1EnrichmentMYCN2.04
80Chondrosarcoma, extraskeletal myxoidEnrichmentTCF122.04
81Rubinstein-taybi syndrome 2EnrichmentEP3002.04
82Cholangitis, primary sclerosingEnrichmentTCF42.04
83Fuchs' endothelial dystrophyEnrichmentTCF42.04
84Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD42.04
85Alzheimer's diseaseEnrichmentPSEN11.98
86Rubinstein-taybi syndrome 1EnrichmentEP3001.96
87Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3001.96
88Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentHELLS1.96
89Colorectal cancerEnrichmentEP300, SMAD41.96
90Gallbladder cancerEnrichmentSMAD41.89
91Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.89
92Alzheimer disease, familial, 1EnrichmentPSEN11.86
93Spastic paraplegia 4, autosomal dominantEnrichmentTCF41.83
94NeuroblastomaEnrichmentMYCN1.83
95Charge syndromeEnrichmentEP3001.78
96Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentTNRC6B1.78
97Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.78
982q23.1 microduplication syndromeEnrichmentACVR2A1.77
99Skin diseaseEnrichmentNCSTN1.75
100Autosomal non-syndromic agammaglobulinemiaEnrichmentTCF31.74
101Cystic fibrosisEnrichmentTGFB11.73
102MicrocephalyEnrichmentEP300, TCF41.67
103EpicanthusEnrichmentTCF41.66
104Acute promyelocytic leukemiaEnrichmentRARA1.63
105Stereotypic movement disorderEnrichmentTCF41.63
106Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.59
107Polydactyly, postaxial, type a1EnrichmentEP3001.56
108Rare genetic intellectual disabilityEnrichmentEP3001.56
109CraniosynostosisEnrichmentTCF121.44
110ScoliosisEnrichmentMYF51.36
111Pancreatic cancerEnrichmentSMAD41.35
112Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN11.34
113Fetal akinesia deformation sequence 1EnrichmentMYOD11.18
114Distal arthrogryposisEnrichmentMYOD11.13
115Gastric cancerEnrichmentSMAD41.12
116Congenital nervous system abnormalityEnrichmentPSEN11.08
117Nervous system diseaseEnrichmentPSEN11.08
118ThrombocytopeniaEnrichmentSMAD41.07
119Autosomal dominant non-syndromic intellectual disabilityEnrichmentTCF41.05
120Inherited cancer-predisposing syndromeEnrichmentSMAD40.66

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