Development_TGF-beta receptor signaling

No Pathway Network information available for Development_TGF-beta receptor signaling

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

Disorders associated with Development_TGF-beta receptor signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome 1EnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS28.76
2RasopathyEnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS28.42
3Noonan syndrome and noonan-related syndromeEnrichmentHRAS, MAP2K1, MAP2K2, RAF1, SOS17.98
4Loeys-dietz syndromeEnrichmentSMAD2, SMAD3, TGFBR1, TGFBR27.05
5Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSKI, SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR26.96
6Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR26.84
7Noonan syndrome 3EnrichmentHRAS, RAF1, SOS15.31
8Lung non-small cell carcinomaEnrichmentERBB2, HRAS, MAP2K14.64
9Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.56
10Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K23.78
11Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K23.78
12Aortic aneurysmEnrichmentSMAD3, TGFBR13.78
13Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.39
14Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.39
15Bladder cancerEnrichmentCDKN1A, ERBB2, HRAS3.32
16Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN2B3.24
17Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.24
18Melanocytic nevus syndrome, congenitalEnrichmentHRAS, RAF13.12
19Arteriovenous malformationEnrichmentHRAS, MAP2K13.01
20Marfan syndromeEnrichmentTGFBR1, TGFBR22.91
21Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K12.91
22Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.55
23Ehlers-danlos syndromeEnrichmentSMAD3, TGFBR22.35
24Paget disease, extramammaryEnrichmentERBB22.28
25Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.28
26Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP2.28
27Noonan syndrome 5EnrichmentRAF12.28
28Noonan syndrome 4EnrichmentSOS12.28
29Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.28
30Melorheostosis, isolatedEnrichmentMAP2K12.28
31Cardiomyopathy, dilated, 1nnEnrichmentRAF12.28
32Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.28
33Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.28
34Noonan syndrome 9EnrichmentSOS22.28
35Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI2.28
36Fetal encasement syndromeEnrichmentCHUK2.28
37Frontometaphyseal dysplasia 2EnrichmentMAP3K72.28
38Pulmonary hypertension, primary, 3EnrichmentCAV12.28
39Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.28
40Immunodeficiency 15bEnrichmentIKBKB2.28
41Noonan syndrome 13EnrichmentMAPK12.28
42Immunodeficiency 15aEnrichmentIKBKB2.28
43Immunodeficiency 92EnrichmentREL2.28
44Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.28
45Ferguson-bonni neurodevelopmental syndromeEnrichmentANAPC72.28
46Lipodystrophy, familial partial, type 7EnrichmentCAV12.28
47Developmental and epileptic encephalopathy 109EnrichmentFZR12.28
48MelorheostosisEnrichmentMAP2K12.28
49Rothmund-thomson syndrome, type 1EnrichmentANAPC12.28
50Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.28
51Leopard syndrome 2EnrichmentRAF12.28
52Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.28
53Loeys-dietz syndrome 6EnrichmentSMAD22.28
54Colorectal cancer 3EnrichmentSMAD72.28
55Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.28
56Immunodeficiency 53EnrichmentRELB2.28
57Bartsocas-papas syndrome 2EnrichmentCHUK2.28
58Menke-hennekam syndrome 1EnrichmentCREBBP2.28
59TrigonitisEnrichmentRAF12.28
60Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.28
61Heritable thoracic aortic diseaseEnrichmentSMAD42.28
62Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.28
63Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.28
64Menke-hennekam syndromeEnrichmentCREBBP2.28
65Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.28
66Phakomatosis pigmentokeratoticaEnrichmentHRAS2.28
67Serous carcinoma of the corpus uteriEnrichmentERBB22.28
68Fibromatosis, gingival, 1EnrichmentSOS11.98
69Myhre syndromeEnrichmentSMAD41.98
70Camurati-engelmann disease 1EnrichmentTGFB11.98
71Costello syndromeEnrichmentHRAS1.98
72Thumb deformityEnrichmentCREBBP1.98
73Pulmonic stenosisEnrichmentSOS11.98
74Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA1.98
75Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.98
76Microvascular complications of diabetes 5EnrichmentTGFBR21.98
77Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB11.98
78Immunodeficiency, common variable, 10EnrichmentNFKB21.98
79Loeys-dietz syndrome 3EnrichmentSMAD31.98
80Gabriele-de vries syndromeEnrichmentYY11.98
81Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA1.98
82Menke-hennekam syndrome 2EnrichmentEP3001.98
83Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB11.98
84Rela fusion-positive ependymomaEnrichmentRELA1.98
85Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP1.98
86Camurati-engelmann diseaseEnrichmentTGFB11.98
87Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA1.98
88Developmental and epileptic encephalopathy 78EnrichmentYY11.98
89InsulinomaEnrichmentYY11.98
90Common variable immunodeficiency 12EnrichmentNFKB11.98
91Tafro syndromeEnrichmentMAP2K21.98
92Wooly hair nevusEnrichmentHRAS1.98
93Colorectal cancerEnrichmentEP300, ERBB2, SMAD41.96
94Connective tissue diseaseEnrichmentSMAD3, TGFBR21.91
95Juvenile polyposis syndromeEnrichmentSMAD41.80
96Nuchal bleb, familialEnrichmentSOS11.80
97Langerhans cell histiocytosisEnrichmentMAP2K11.80
98Nasopharyngeal carcinomaEnrichmentNFKBIA1.80
99Tethered spinal cord syndromeEnrichmentCREBBP1.80
100Large congenital melanocytic nevusEnrichmentHRAS1.80
101Frontometaphyseal dysplasiaEnrichmentMAP3K71.80
102Intraocular pressure quantitative trait locusEnrichmentCREBBP1.80
103SpermatocytomaEnrichmentHRAS1.80
104Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.68
105Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.68
106Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.68
107Immunodeficiency, common variable, 1EnrichmentNFKB21.68
108Lymphoproliferative syndrome 2EnrichmentXIAP1.68
109Barrett esophagusEnrichmentERBB21.68
110Noonan syndrome with multiple lentiginesEnrichmentRAF11.68
111Epidermolytic nevusEnrichmentHRAS1.68
112Gingival fibromatosisEnrichmentSOS11.68
113Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.68
114Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.68
115Gastric cancerEnrichmentERBB2, SMAD41.66
116Goldberg-shprintzen syndromeEnrichmentSKI1.58
117Rubinstein-taybi syndrome 2EnrichmentEP3001.58
118Diffuse cutaneous systemic sclerosisEnrichmentCAV11.58
119Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.58
120Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.50
121Limited sclerodermaEnrichmentCAV11.50
122Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.50
123HypertrichosisEnrichmentCREBBP1.50
124Classic ehlers-danlos syndromeEnrichmentTGFBR11.50
125Esophageal cancerEnrichmentTGFBR21.44
126Nevus, epidermalEnrichmentHRAS1.44
127Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.44
128Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.44
129Gallbladder cancerEnrichmentSMAD41.44
130Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.44
131Pilomyxoid astrocytomaEnrichmentRAF11.44
132Follicular thyroid carcinomaEnrichmentHRAS1.44
133Glioma susceptibility 1EnrichmentERBB21.38
134Ewing sarcomaEnrichmentETV11.38
135Charge syndromeEnrichmentEP3001.33
136Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.33
137Ciliary dyskinesia, primary, 3EnrichmentNFKB11.29
138Pectus excavatumEnrichmentTGFBR11.25
139Heritable pulmonary arterial hypertensionEnrichmentCAV11.25
140Specific learning disabilityEnrichmentMAPK11.25
141Breast cancerEnrichmentCDKN2B, SHC11.22
142Lip and oral cavity carcinomaEnrichmentHRAS1.21
143Aortic valve disease 1EnrichmentSOS11.17
144Chromosome 1p36 deletion syndromeEnrichmentSKI1.17
145Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.14
146Lung cancer susceptibility 3EnrichmentERBB21.14
147Heart diseaseEnrichmentCREBBP1.14
14846,xy partial gonadal dysgenesisEnrichmentSOS11.14
149Polydactyly, postaxial, type a1EnrichmentEP3001.11
150Corpus callosum, agenesis ofEnrichmentCREBBP1.11
151Lynch syndromeEnrichmentTGFBR21.11
152Isolated corpus callosum agenesisEnrichmentCREBBP1.11
153Septopreoptic holoprosencephalyEnrichmentFOXH11.11
154Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.11
155Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH11.11
156RhabdomyosarcomaEnrichmentHRAS1.09
157GliosarcomaEnrichmentNFKBIA1.09
158Microform holoprosencephalyEnrichmentFOXH11.09
159Lobar holoprosencephalyEnrichmentFOXH11.09
160Melanoma, cutaneous malignant 1EnrichmentCDKN2B1.06
161Giant cell glioblastomaEnrichmentNFKBIA1.06
162Alobar holoprosencephalyEnrichmentFOXH11.06
163Heart, malformation ofEnrichmentMAPK11.04
164Semilobar holoprosencephalyEnrichmentFOXH11.04
165Diffuse large b-cell lymphomaEnrichmentCREBBP1.02
166Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.92
167Autoinflammatory diseaseEnrichmentXIAP0.92
168ScoliosisEnrichmentCREBBP0.92
169Pancreatic cancerEnrichmentSMAD40.90
170Hydrops fetalis, nonimmuneEnrichmentHRAS0.89
171MicrocephalyEnrichmentEP300, MAPK10.86
172Hirschsprung disease 1EnrichmentERBB20.84
173Differentiated thyroid carcinomaEnrichmentHRAS0.84
174Non-immune hydrops fetalisEnrichmentHRAS0.82
175Lung cancerEnrichmentERBB20.80
176Cystic fibrosisEnrichmentTGFB10.80
177Familial hypertrophic cardiomyopathyEnrichmentRAF10.79
178Severe combined immunodeficiencyEnrichmentIKBKB0.79
179Left ventricular noncompactionEnrichmentRAF10.77
180ThrombocytopeniaEnrichmentSMAD40.65
181Familial isolated dilated cardiomyopathyEnrichmentRAF10.61
182Myeloma, multipleEnrichmentCREBBP0.59
183Undetermined early-onset epileptic encephalopathyEnrichmentFZR10.59
184AutismEnrichmentCREBBP0.50
185Dilated cardiomyopathyEnrichmentRAF10.46
186Ovarian cancerEnrichmentERBB20.38
187Congenital nervous system abnormalityEnrichmentCREBBP0.36
188Nervous system diseaseEnrichmentCREBBP0.36
189Autism spectrum disorderEnrichmentMAP2K10.36
190Inherited cancer-predisposing syndromeEnrichmentSMAD40.30

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