TGF-beta receptor signaling in skeletal dysplasias

No Pathway Network information available for TGF-beta receptor signaling in skeletal dysplasias

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

Disorders associated with TGF-beta receptor signaling in skeletal dysplasias SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Loeys-dietz syndromeEnrichmentFBN1, SMAD2, SMAD3, TGFBR1, TGFBR29.73
2Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFBN1, SKI, SMAD2, SMAD3, SMAD4, TGFBR1, TGFBR29.16
3Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR27.20
4Geleophysic dysplasiaEnrichmentADAMTSL2, FBN1, LTBP37.11
5Aortic aneurysmEnrichmentFBN1, SMAD3, TGFBR16.51
6Marfan syndromeEnrichmentFBN1, TGFBR1, TGFBR25.04
7Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR24.79
8Acromicric dysplasiaEnrichmentFBN1, LTBP34.73
9Aortic aneurysm, familial thoracic 1EnrichmentFBN1, SMAD3, SMAD64.56
10Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, STAT34.32
11Weill-marchesani syndrome 1EnrichmentADAMTS10, FBN14.25
12Weill-marchesani syndromeEnrichmentADAMTS10, FBN13.95
13Generalized juvenile polyposis/juvenile polyposis coliEnrichmentENG, SMAD43.80
14Familial cerebral saccular aneurysmEnrichmentENG, TGFBR33.80
15Goldberg-shprintzen syndromeEnrichmentFBN1, SKI3.73
16Rubinstein-taybi syndrome 1EnrichmentCREBBP, EP3003.62
17Chromosome 16p13.3 deletion syndrome, proximalEnrichmentCREBBP, EP3003.62
18Gallbladder cancerEnrichmentCTNNB1, SMAD43.48
19Hereditary hemorrhagic telangiectasiaEnrichmentENG, SMAD43.48
20Connective tissue diseaseEnrichmentFBN1, SMAD3, TGFBR23.45
21Melanocytic nevus syndrome, congenitalEnrichmentHRAS, ZEB23.35
22Systemic lupus erythematosusEnrichmentENG, SPP1, TNF3.28
23Adult hepatocellular carcinomaEnrichmentCTNNB1, EGF3.24
24Familial thoracic aortic aneurysm and dissectionEnrichmentFBN1, SMAD33.18
25Heritable pulmonary arterial hypertensionEnrichmentENG, SMAD93.06
26Pectus excavatumEnrichmentFBN1, TGFBR13.00
27Rare genetic intellectual disabilityEnrichmentCREBBP, EP3002.79
28Septopreoptic holoprosencephalyEnrichmentFOXH1, TGIF12.79
29Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH1, TGIF12.79
30Microform holoprosencephalyEnrichmentFOXH1, TGIF12.73
31Lobar holoprosencephalyEnrichmentFOXH1, TGIF12.73
32Alobar holoprosencephalyEnrichmentFOXH1, TGIF12.68
33Semilobar holoprosencephalyEnrichmentFOXH1, TGIF12.63
34Diffuse large b-cell lymphomaEnrichmentCREBBP, STAT32.58
35Ehlers-danlos syndromeEnrichmentSMAD3, TGFBR22.58
36Stapes ankylosis with broad thumbs and toesEnrichmentNOG2.39
37Tarsal-carpal coalition syndromeEnrichmentNOG2.39
38Hypomagnesemia 4, renalEnrichmentEGF2.39
39Brachydactyly, type b2EnrichmentNOG2.39
40Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.39
41Holoprosencephaly 4EnrichmentTGIF12.39
42Symphalangism, proximal, 1aEnrichmentNOG2.39
43Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI2.39
44Multiple synostoses syndrome 1EnrichmentNOG2.39
45Radioulnar synostosis, nonsyndromicEnrichmentSMAD62.39
46Ectodermal dysplasia 17 with or without limb malformationsEnrichmentLEF12.39
47Immunodeficiency 69EnrichmentIFNG2.39
48Renal cell carcinoma, xp11-associatedEnrichmentTFE32.39
49Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse faciesEnrichmentTFE32.39
50Microphthalmia, syndromic 6EnrichmentBMP42.39
51Orofacial cleft 11EnrichmentBMP42.39
52T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.39
53Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.39
54Bone mineral density quantitative trait locus 16EnrichmentWNT12.39
55Ovary adenocarcinomaEnrichmentINHBA2.39
56Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.39
57Immunodeficiency 31aEnrichmentSTAT12.39
58Nephronophthisis 14EnrichmentZNF4232.39
59Pulmonary hypertension, primary, 2EnrichmentSMAD92.39
60Loeys-dietz syndrome 6EnrichmentSMAD22.39
61Colorectal cancer 3EnrichmentSMAD72.39
62Immunodeficiency 31bEnrichmentSTAT12.39
63Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.39
64Cutis laxa, autosomal recessive, type iieEnrichmentLTBP12.39
65Menke-hennekam syndrome 1EnrichmentCREBBP2.39
66Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.39
67Adenoid ameloblastomaEnrichmentCTNNB12.39
68Amelogenesis imperfecta, type ihEnrichmentITGB62.39
69Heritable thoracic aortic diseaseEnrichmentSMAD42.39
70Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP2.39
71Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.39
72Menke-hennekam syndromeEnrichmentCREBBP2.39
73Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.39
74Phakomatosis pigmentokeratoticaEnrichmentHRAS2.39
75Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.39
76Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.39
77Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.39
78Microcystic stromal tumorEnrichmentCTNNB12.39
79Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN12.36
80Geleophysic dysplasia 1EnrichmentADAMTSL22.36
81Lethal short-limb skeletal dysplasia, al gazali typeEnrichmentADAMTSL22.36
82Weill-marchesani syndrome 2EnrichmentFBN12.36
83Geleophysic dysplasia 2EnrichmentFBN12.36
84Protrusio acetabuliEnrichmentFBN12.36
85Lymphoplasmacytic lymphomaEnrichmentFBN12.36
86Geleophysic dysplasia 3EnrichmentLTBP32.36
87Neonatal marfan syndromeEnrichmentFBN12.36
88ScoliosisEnrichmentCREBBP, FBN12.32
89Colorectal cancerEnrichmentCTNNB1, EP300, SMAD42.28
90Bladder cancerEnrichmentCTNNB1, HRAS2.21
91Ectrodactyly and ectodermal dysplasia without cleft lip/palateEnrichmentLEF12.09
92Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX22.09
93Myhre syndromeEnrichmentSMAD42.09
94Camurati-engelmann disease 1EnrichmentTGFB12.09
95Costello syndromeEnrichmentHRAS2.09
96Thumb deformityEnrichmentCREBBP2.09
97Mowat-wilson syndromeEnrichmentZEB22.09
98Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.09
99Alveolar soft part sarcomaEnrichmentTFE32.09
100Pulmonary arteriovenous fistulasEnrichmentENG2.09
101Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.09
102Microvascular complications of diabetes 5EnrichmentTGFBR22.09
103Osteogenesis imperfecta, type xvEnrichmentWNT12.09
104Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.09
105Loeys-dietz syndrome 3EnrichmentSMAD32.09
106Immunodeficiency 31cEnrichmentSTAT12.09
107Menke-hennekam syndrome 2EnrichmentEP3002.09
108Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.09
109Immunodeficiency 127EnrichmentTNF2.09
110Childhood hepatocellular carcinomaEnrichmentCTNNB12.09
111Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP2.09
112Split hand-foot malformationEnrichmentLEF12.09
113Camurati-engelmann diseaseEnrichmentTGFB12.09
114Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.09
115Aortic valve disease 2EnrichmentSMAD62.09
116Proximal symphalangismEnrichmentNOG2.09
117Craniosynostosis 7EnrichmentSMAD62.09
118Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.09
119Radioulnar synostosisEnrichmentSMAD62.09
120TeratomaEnrichmentCTNNB12.09
121Common variable immunodeficiency 12EnrichmentNFKB12.09
122Wooly hair nevusEnrichmentHRAS2.09
123Stiff skin syndromeEnrichmentFBN12.06
124Ehlers-danlos syndrome, dermatosparaxis typeEnrichmentADAMTSL22.06
125Beaulieu-boycott-innes syndromeEnrichmentFBN12.06
126Aortic dissectionEnrichmentFBN12.06
127Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN12.06
128Lens subluxationEnrichmentFBN12.06
129Congenital nervous system abnormalityEnrichmentCREBBP, CTNNB1, ZEB22.04
130Nervous system diseaseEnrichmentCREBBP, CTNNB1, ZEB22.04
131Cleidocranial dysplasia 1EnrichmentRUNX21.92
132Desmoid disease, hereditaryEnrichmentCTNNB11.92
133Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.92
134Juvenile polyposis syndromeEnrichmentSMAD41.92
135Tuberous sclerosis 1EnrichmentIFNG1.92
136Osteoporosis, juvenileEnrichmentWNT11.92
137Psoriatic arthritisEnrichmentTNF1.92
138Hepatitis c virusEnrichmentIFNG1.92
139Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.92
140Tuberous sclerosis 2EnrichmentIFNG1.92
141Anus, imperforateEnrichmentCTNNB11.92
142Exudative vitreoretinopathy 7EnrichmentCTNNB11.92
143Tethered spinal cord syndromeEnrichmentCREBBP1.92
144Large congenital melanocytic nevusEnrichmentHRAS1.92
145Autosomal recessive cutis laxa type iEnrichmentLTBP11.92
146Desmoid tumorEnrichmentCTNNB11.92
147Hyper ige syndromeEnrichmentSTAT31.92
148Cleidocranial dysplasiaEnrichmentRUNX21.92
149Intraocular pressure quantitative trait locusEnrichmentCREBBP1.92
150Migraine without auraEnrichmentTNF1.92
151SpermatocytomaEnrichmentHRAS1.92
152Alopecia - intellectual disability syndromeEnrichmentITGB61.92
153Renal cell carcinomaEnrichmentTFE31.92
154Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentSMAD91.92
155Contractural arachnodactyly, congenitalEnrichmentFBN11.89
156AchondroplasiaEnrichmentFBN11.89
157Mccune-albright syndromeEnrichmentFBN11.89
158Isolated ectopia lentisEnrichmentFBN11.89
159Amelogenesis imperfecta, type iiiaEnrichmentITGB61.79
160Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS1.79
161PilomatrixomaEnrichmentCTNNB11.79
162Alazami syndromeEnrichmentCTNNB11.79
163Congenital generalized lipodystrophyEnrichmentFOS1.79
164Multiple synostoses syndromeEnrichmentNOG1.79
165Malignant epithelioid hemangioendotheliomaEnrichmentTFE31.79
166Orofacial cleftEnrichmentFST1.79
167CraniopharyngiomaEnrichmentCTNNB11.79
168Epidermolytic nevusEnrichmentHRAS1.79
169Cerebral malariaEnrichmentTNF1.79
170Pediatric systemic lupus erythematosusEnrichmentSPP11.79
171Orofacial clefting syndromeEnrichmentFST1.79
172Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.79
173Mitral valve insufficiencyEnrichmentFBN11.76
174Exudative vitreoretinopathy 1EnrichmentCTNNB11.70
175Rubinstein-taybi syndrome 2EnrichmentEP3001.70
176Histiocytoid hemangiomaEnrichmentFOS1.70
177Vascular dementiaEnrichmentTNF1.70
178Idiopathic aplastic anemiaEnrichmentIFNG1.70
179Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN11.67
180Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN11.67
181Polycystic liver disease 1EnrichmentFBN11.67
182Weyers acrofacial dysostosisEnrichmentCTNNB11.62
183Telangiectasia, hereditary hemorrhagic, type 1EnrichmentENG1.62
184Split-hand/foot malformation 1EnrichmentLEF11.62
185Anterior segment dysgenesis 5EnrichmentBMP41.62
186Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB11.62
187Adrenocortical carcinomaEnrichmentCTNNB11.62
188Chronic mucocutaneous candidiasisEnrichmentSTAT11.62
189Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB11.62
190HypertrichosisEnrichmentCREBBP1.62
191Classic ehlers-danlos syndromeEnrichmentTGFBR11.62
192Dental anomalies and short statureEnrichmentLTBP31.59
193Inguinal herniaEnrichmentFBN11.59
194Esophageal cancerEnrichmentTGFBR21.55
195Nevus, epidermalEnrichmentHRAS1.55
196Thyroid cancer, nonmedullary, 2EnrichmentHRAS1.55
197Arima syndromeEnrichmentZNF4231.55
198Noonan syndrome 3EnrichmentHRAS1.55
199Renal cell carcinoma with mit translocationsEnrichmentTFE31.55
200MegacolonEnrichmentZEB21.55
201Common variable immunodeficiencyEnrichmentNFKB11.55
202Follicular thyroid carcinomaEnrichmentHRAS1.55
203Brugada syndrome 1EnrichmentFBN11.52
204Exudative vitreoretinopathyEnrichmentCTNNB11.50
205Permanent neonatal diabetes mellitusEnrichmentSTAT31.50
206Infantile nephronophthisisEnrichmentZNF4231.50
207Orthostatic intoleranceEnrichmentFBN11.46
208Charge syndromeEnrichmentEP3001.44
209PolydactylyEnrichmentSMAD61.44
210Arteriovenous malformationEnrichmentHRAS1.44
211Peters-plus syndromeEnrichmentBMP41.40
212Amelogenesis imperfecta, type ieEnrichmentITGB61.40
213Myopathy, x-linked, with excessive autophagyEnrichmentHRAS1.40
214Ciliary dyskinesia, primary, 3EnrichmentNFKB11.40
215Aplastic anemiaEnrichmentIFNG1.40
216Stickler syndromeEnrichmentBMP41.40
217Stroke, ischemicEnrichmentFBN11.37
218MelanomaEnrichmentFBN11.37
219AsthmaEnrichmentTNF1.36
220Lung non-small cell carcinomaEnrichmentHRAS1.36
221Renal hypodysplasia/aplasia 3EnrichmentBMP41.32
222Lip and oral cavity carcinomaEnrichmentHRAS1.32
223Aortic valve disease 1EnrichmentSMAD61.29
224Osteogenesis imperfecta, type ivEnrichmentWNT11.29
225Pulmonary hypertension, primary, 1EnrichmentENG1.29
226Acute promyelocytic leukemiaEnrichmentSTAT31.29
227Alzheimer's diseaseEnrichmentTNF1.29
228Chromosome 1p36 deletion syndromeEnrichmentSKI1.29
229Diaphragmatic hernia, congenitalEnrichmentFBN11.26
230Amelogenesis imperfectaEnrichmentLTBP31.26
231OsteoporosisEnrichmentWNT11.26
232MedulloblastomaEnrichmentCTNNB11.26
233Heart diseaseEnrichmentCREBBP1.26
234Cleft lip/palateEnrichmentBMP41.26
235Polydactyly, postaxial, type a1EnrichmentEP3001.23
236Corpus callosum, agenesis ofEnrichmentCREBBP1.23
237Osteogenesis imperfecta, type iiiEnrichmentWNT11.23
238Lynch syndromeEnrichmentTGFBR21.23
239Isolated corpus callosum agenesisEnrichmentCREBBP1.23
240Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP1.23
241Noonan syndrome and noonan-related syndromeEnrichmentHRAS1.23
242RhabdomyosarcomaEnrichmentHRAS1.20
243MyopiaEnrichmentFBN11.20
244Polycystic liver diseaseEnrichmentCTNNB11.18
245Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.18
246Perrault syndrome 1EnrichmentFBN11.17
247Heart, malformation ofEnrichmentSMAD61.15
248Human immunodeficiency virus type 1EnrichmentIFNG1.15
249Arteriovenous malformations of the brainEnrichmentENG1.13
250CraniosynostosisEnrichmentSMAD61.11
251HepatoblastomaEnrichmentCTNNB11.09
252Hepatocellular carcinomaEnrichmentCTNNB11.07
253Visceral heterotaxyEnrichmentLEFTY21.07
254MicrocephalyEnrichmentCTNNB1, EP3001.05
255Noonan syndrome 1EnrichmentHRAS1.05
256Brittle bone disorderEnrichmentWNT11.05
257MalariaEnrichmentTNF1.05
258Pancreatic cancerEnrichmentSMAD41.01
259Hydrops fetalis, nonimmuneEnrichmentHRAS1.00
260RasopathyEnrichmentHRAS1.00
261Differentiated thyroid carcinomaEnrichmentHRAS0.95
262Non-immune hydrops fetalisEnrichmentHRAS0.93
263Cystic fibrosisEnrichmentTGFB10.91
264MyopathyEnrichmentFBN10.80
265Gastric cancerEnrichmentSMAD40.79
266Nephrotic syndromeEnrichmentRUNX20.79
267ThrombocytopeniaEnrichmentSMAD40.75
268Myeloma, multipleEnrichmentCREBBP0.69
269Primary ovarian insufficiencyEnrichmentTHBS10.67
270AutismEnrichmentCREBBP0.59
271Breast cancerEnrichmentJUN0.58
272Dilated cardiomyopathyEnrichmentFBN10.53
273Ovarian cancerEnrichmentCTNNB10.47
274Inherited cancer-predisposing syndromeEnrichmentSMAD40.38

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