Signaling by TGFB family members

Pathway network for the Signaling by TGFB family members SuperPath

Sources:
  • Reactome
  • Tocris

Pathways in the Signaling by TGFB family members SuperPath

#NameSourceGenes
1Signaling by TGFB family membersReactome
2Signaling by TGF-beta Receptor ComplexReactome
3Signaling by ActivinReactome
4TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)Reactome
5Regulation of CDH1 mRNA translation by microRNAsReactome
6Notch PathwayTocris
7TGFBR3 regulates activin signalingReactome
8Antagonism of Activin by FollistatinReactome

Gene overlap in member pathways for Signaling by TGFB family members SuperPath

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

Disorders associated with Signaling by TGFB family members SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Familial thoracic aortic aneurysm and aortic dissectionEnrichmentFBN1, SKI, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR210.74
2Loeys-dietz syndromeEnrichmentFBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR210.59
3Marfan syndromeEnrichmentFBN1, LTBP2, TGFB2, TGFBR1, TGFBR28.45
4Loeys-dietz syndrome 1EnrichmentSMAD2, TGFBR1, TGFBR26.49
5Alzheimer disease 4EnrichmentPSEN1, PSEN26.49
6Aortic aneurysmEnrichmentFBN1, SMAD3, TGFBR15.89
7Loeys-dietz syndrome 2EnrichmentTGFBR1, TGFBR25.88
8Early-onset autosomal dominant alzheimer diseaseEnrichmentPSEN1, PSEN25.64
9Heritable pulmonary arterial hypertensionEnrichmentACVRL1, BMPR2, GDF2, SMAD95.26
10Ehlers-danlos syndromeEnrichmentCOL1A2, SMAD3, TGFB2, TGFBR25.11
11Acromicric dysplasiaEnrichmentFBN1, LTBP34.32
12Loeys-dietz syndrome 4EnrichmentTGFB2, TGFB34.32
13Hereditary hemorrhagic telangiectasiaEnrichmentACVRL1, GDF2, SMAD44.28
14Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, TNRC6B4.07
15Craniosynostosis 7EnrichmentBMP2, SMAD63.87
16Weill-marchesani syndrome 1EnrichmentFBN1, LTBP23.85
17Geleophysic dysplasiaEnrichmentFBN1, LTBP33.85
18Familial isolated dilated cardiomyopathyEnrichmentPSEN1, PSEN23.83
19Weill-marchesani syndromeEnrichmentFBN1, LTBP23.55
20Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE1, WWTR13.55
21Ovary adenocarcinomaEnrichmentINHBA3.53
22Cardiomyopathy, dilated, 1vEnrichmentPSEN23.43
23Cardiomyopathy, dilated, 1uEnrichmentPSEN13.43
24Acne inversa, familial, 2, with or without dowling-degos diseaseEnrichmentPSENEN3.43
25Acne inversa, familial, 3EnrichmentPSEN13.43
26Huntington's disease-likeEnrichmentPSEN23.43
27Juvenile polyposis syndromeEnrichmentBMPR1A, SMAD43.40
28Transposition of the great arteries, dextro-loopedEnrichmentACVR1B, BMP23.40
29Pulmonary arterial hypertension associated with congenital heart diseaseEnrichmentBMPR2, SMAD93.40
30Pulmonary hypertension, primary, 1EnrichmentACVRL1, BMPR2, GDF23.39
31Pancreatic cancerEnrichmentACVR1B, SMAD43.36
32Goldberg-shprintzen syndromeEnrichmentFBN1, SKI3.33
33Aortic aneurysm, familial thoracic 1EnrichmentFBN1, SMAD3, SMAD63.29
34Classic ehlers-danlos syndromeEnrichmentCOL1A2, TGFBR13.15
35Burkitt lymphomaEnrichmentMYC3.13
36Alzheimer disease 3EnrichmentPSEN13.13
37Pick disease of brainEnrichmentPSEN13.13
38Megalencephaly-polydactyly syndromeEnrichmentMYCN3.13
39Familial retinoblastomaEnrichmentMYCN3.13
40Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B3.13
41Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A3.13
42Brachydactyly, type a2EnrichmentBMP2, BMPR1B3.10
43Persistent mullerian duct syndrome, types i and iiEnrichmentAMH, AMHR23.10
44Persistent mullerian duct syndromeEnrichmentAMH, AMHR23.10
45Multiple endocrine neoplasia, type iEnrichmentCDKN2B, MEN13.01
46RetinoblastomaEnrichmentMYCN2.96
47High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC2.96
48Heart, malformation ofEnrichmentCDK8, MAPK1, SMAD62.95
49Orofacial cleftEnrichmentFST2.93
50Orofacial clefting syndromeEnrichmentFST2.93
51Multiple self-healing squamous epitheliomaEnrichmentTGFBR12.93
52Retinitis pigmentosa 78EnrichmentARHGEF182.93
53Colorectal cancer, hereditary nonpolyposis, type 6EnrichmentTGFBR22.93
54Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.93
55Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.93
56Noonan syndrome 13EnrichmentMAPK12.90
57Loeys-dietz syndrome 6EnrichmentSMAD22.90
58Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.90
59Heritable thoracic aortic diseaseEnrichmentSMAD42.90
60Generalized juvenile polyposis/juvenile polyposis coliEnrichmentBMPR1A, SMAD42.88
61Connective tissue diseaseEnrichmentFBN1, SMAD3, TGFBR22.86
62Dowling-degos diseaseEnrichmentPSENEN2.83
632q23.1 microduplication syndromeEnrichmentACVR2A2.83
64Familial cerebral saccular aneurysmEnrichmentTGFBR32.83
65Premature ovarian failure 3EnrichmentAGO22.83
66Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO12.83
67Familial thoracic aortic aneurysm and dissectionEnrichmentFBN1, SMAD32.78
68Feingold syndrome 1EnrichmentMYCN2.73
69DementiaEnrichmentPSEN12.73
70Atrial septal defect 1EnrichmentBMP2, TGFB22.71
71Myopathy, centronuclear, 1EnrichmentMYF6, MYOD12.71
72Telangiectasia, hereditary hemorrhagic, type 1EnrichmentACVRL1, PSEN12.71
73Lessel-kreienkamp syndromeEnrichmentAGO22.66
74Camurati-engelmann disease 1EnrichmentTGFB12.63
75Microvascular complications of diabetes 5EnrichmentTGFBR22.63
76Inflammatory bowel disease, immunodeficiency, and encephalopathyEnrichmentTGFB12.63
77Camurati-engelmann diseaseEnrichmentTGFB12.63
78Submucosal cleft palateEnrichmentUBB2.63
79Cleft hard palateEnrichmentUBB2.63
80Myhre syndromeEnrichmentSMAD42.60
81Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD42.60
82Heterotaxy, visceral, 4, autosomalEnrichmentACVR2B2.60
83Loeys-dietz syndrome 3EnrichmentSMAD32.60
84Pectus excavatumEnrichmentFBN1, TGFBR12.60
85Semantic dementiaEnrichmentPSEN12.59
86NeuroblastomaEnrichmentMYCN2.53
87Progressive non-fluent aphasiaEnrichmentPSEN12.48
88Behavioral variant of frontotemporal dementiaEnrichmentPSEN12.48
89Diaphragmatic hernia, congenitalEnrichmentCDK8, FBN12.45
90Neural tube defectsEnrichmentITGB1, PARD32.45
91Chromosome 1p36 deletion syndromeEnrichmentPRKCZ, SKI2.45
92Uvula, bifidEnrichmentUBB2.45
93Cleft soft palateEnrichmentUBB2.45
94Frontotemporal dementia 1EnrichmentPSEN12.39
95Alzheimer's diseaseEnrichmentPSEN12.32
96Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.30
97Alzheimer disease, familial, 1EnrichmentPSEN12.20
98Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentTNRC6B2.18
99Ectopia lentis 1, isolated, autosomal dominantEnrichmentFBN12.16
100Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaEnrichmentLTBP22.16
101Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.16
102Intellectual developmental disorder, x-linked 99EnrichmentUSP9X2.16
103Glaucoma 3, primary congenital, dEnrichmentLTBP22.16
104Holoprosencephaly 4EnrichmentTGIF12.16
105Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI2.16
106Weill-marchesani syndrome 2EnrichmentFBN12.16
107Geleophysic dysplasia 2EnrichmentFBN12.16
108Protrusio acetabuliEnrichmentFBN12.16
109Weill-marchesani syndrome 3EnrichmentLTBP22.16
110Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.16
111Adrenal cortical adenomaEnrichmentMEN12.16
112Lymphoplasmacytic lymphomaEnrichmentFBN12.16
113Intellectual developmental disorder, x-linked 99, syndromic, female-restrictedEnrichmentUSP9X2.16
114Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.16
115Camurati-engelmann disease 2EnrichmentTGFB22.16
116Geleophysic dysplasia 3EnrichmentLTBP32.16
117Immunodeficiency 31aEnrichmentSTAT12.16
118Colorectal cancer 3EnrichmentSMAD72.16
119Immunodeficiency 31bEnrichmentSTAT12.16
120Loeys-dietz syndrome 5EnrichmentTGFB32.16
121Cutis laxa, autosomal recessive, type iieEnrichmentLTBP12.16
122Noonan syndrome-like disorder with loose anagen hair 2EnrichmentPPP1CB2.16
123Intellectual developmental disorder with hypertelorism and distinctive faciesEnrichmentCCNK2.16
124Periventricular nodular heterotopia 7EnrichmentNEDD4L2.16
125Amelogenesis imperfecta, type ihEnrichmentITGB62.16
126Female-restricted syndromic x-linked intellectual disability 99EnrichmentUSP9X2.16
127Glaucoma secondary to spherophakia/ectopia lentis and megalocorneaEnrichmentLTBP22.16
128Developmental dysplasia of the hip 4EnrichmentTRIM332.16
129Immune dysregulation, neurodevelopmental defects, and colitisEnrichmentITGAV2.16
130Adrenal adenomaEnrichmentMEN12.16
131Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.16
132Neonatal marfan syndromeEnrichmentFBN12.16
133Dislocation of the hip-dysmorphism syndromeEnrichmentTRIM332.16
134Hemihyperplasia, isolatedEnrichmentRHOA2.15
135Inflammatory bowel disease 25, autosomal recessiveEnrichmentTGFB12.15
136Il10-related early-onset inflammatory bowel diseaseEnrichmentTGFB12.15
137Esophageal cancerEnrichmentTGFBR22.08
138Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC2.07
139Gallbladder cancerEnrichmentSMAD42.06
140Noonan syndrome 1EnrichmentCBL, PPP1CB1.96
141Stapes ankylosis with broad thumbs and toesEnrichmentNOG1.93
142Tarsal-carpal coalition syndromeEnrichmentNOG1.93
143Telangiectasia, hereditary hemorrhagic, type 2EnrichmentACVRL11.93
144Polyposis syndrome, hereditary mixed, 2EnrichmentBMPR1A1.93
145Acromesomelic dysplasia 3EnrichmentBMPR1B1.93
146Brachydactyly, type b2EnrichmentNOG1.93
147Acne inversa, familial, 1EnrichmentNCSTN1.93
148Symphalangism, proximal, 1aEnrichmentNOG1.93
149Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS1.93
150Multiple synostoses syndrome 1EnrichmentNOG1.93
151Brachydactyly, type a1, dEnrichmentBMPR1B1.93
152Radioulnar synostosis, nonsyndromicEnrichmentSMAD61.93
153Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF31.93
154Winchester syndromeEnrichmentMMP141.93
155Tooth agenesis, selective, 9EnrichmentGREM21.93
156Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF31.93
157Ophthalmoplegia, external, with rib and vertebral anomaliesEnrichmentMYF51.93
158Oculopharyngodistal myopathy 2EnrichmentGIPC11.93
159Craniosynostosis 3EnrichmentTCF121.93
160Telangiectasia, hereditary hemorrhagic, type 5EnrichmentGDF21.93
161Pulmonary hypertension, primary, 2EnrichmentSMAD91.93
162Congenital myopathy 17EnrichmentMYOD11.93
163Corneal dystrophy, fuchs endothelial, 3EnrichmentTCF41.93
16420p12.3 microdeletion syndromeEnrichmentBMP21.93
165Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1EnrichmentBMP21.93
166TelangiectasisEnrichmentACVRL11.93
167Primary pulmonary hypertensionEnrichmentBMPR21.93
168Pulmonary hypertensionEnrichmentBMPR21.93
169Drug- or toxin-induced pulmonary arterial hypertensionEnrichmentBMPR21.93
170Hypogonadotropic hypogonadism 26 with or without anosmiaEnrichmentTCF121.93
171Pash syndromeEnrichmentNCSTN1.93
172Isolated congenital megalocorneaEnrichmentCHRDL11.93
173Septopreoptic holoprosencephalyEnrichmentFOXH1, TGIF11.89
174Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH1, TGIF11.89
175Specific learning disabilityEnrichmentMAPK11.86
176Bruck syndrome 1EnrichmentCOL1A21.86
177Stiff skin syndromeEnrichmentFBN11.86
178Ebstein anomalyEnrichmentCDK81.86
179Ovarian germ cell cancerEnrichmentCBL1.86
180Hyperparathyroidism 1EnrichmentMEN11.86
181Cutis laxa, autosomal recessive, type icEnrichmentLTBP41.86
182Beaulieu-boycott-innes syndromeEnrichmentFBN11.86
183Immunodeficiency 31cEnrichmentSTAT11.86
184Spinocerebellar ataxia 48EnrichmentSTUB11.86
185Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A21.86
186Menke-hennekam syndrome 2EnrichmentEP3001.86
187Noonan syndrome-like disorder with loose anagen hairEnrichmentPPP1CB1.86
188Aortic dissectionEnrichmentFBN11.86
189Marfanoid-progeroid-lipodystrophy syndromeEnrichmentFBN11.86
190Medullary thyroid carcinomaEnrichmentMEN11.86
191InsulinomaEnrichmentMEN11.86
192Intellectual developmental disorder with hypotonia and behavioral abnormalitiesEnrichmentCDK81.86
193Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A21.86
194Malignant germ cell tumor of ovaryEnrichmentCBL1.86
195Dentinogenesis imperfectaEnrichmentCOL1A21.86
196Primary mediastinal large b-cell lymphomaEnrichmentXPO11.86
197Lens subluxationEnrichmentFBN11.86
198Null pituitary adenomaEnrichmentMEN11.86
199Silent pituitary adenomaEnrichmentMEN11.86
200GigantismEnrichmentMEN11.86
201RasopathyEnrichmentCBL, PPP1CB1.86
202Microform holoprosencephalyEnrichmentFOXH1, TGIF11.84
203Lobar holoprosencephalyEnrichmentFOXH1, TGIF11.84
204Alobar holoprosencephalyEnrichmentFOXH1, TGIF11.79
205Lynch syndromeEnrichmentTGFBR21.76
206Semilobar holoprosencephalyEnrichmentFOXH1, TGIF11.74
207ThrombocytopeniaEnrichmentACVRL1, ITGB3, SMAD41.74
208Contractural arachnodactyly, congenitalEnrichmentFBN11.69
209Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentITGB31.69
210AchondroplasiaEnrichmentFBN11.69
211Mccune-albright syndromeEnrichmentFBN11.69
212Exfoliation syndromeEnrichmentLTBP21.69
213Bleeding disorder, platelet-type, 16EnrichmentITGB31.69
214Muscular dystrophy, duchenne typeEnrichmentLTBP41.69
215Chromosome 5q14.3 deletion syndrome, distalEnrichmentNEDD4L1.69
216Pituitary adenoma 1, multiple typesEnrichmentMEN11.69
217Autosomal recessive cutis laxa type iEnrichmentLTBP11.69
218Isolated ectopia lentisEnrichmentFBN11.69
219Cellular ependymomaEnrichmentMEN11.69
220Tanycytic ependymomaEnrichmentMEN11.69
221Papillary ependymomaEnrichmentMEN11.69
222Parathyroid adenomaEnrichmentMEN11.69
223Growth hormone secreting pituitary adenomaEnrichmentMEN11.69
224Aip familial isolated pituitary adenomasEnrichmentMEN11.69
225Familial isolated hyperparathyroidismEnrichmentMEN11.69
226High bone mass osteogenesis imperfectaEnrichmentCOL1A21.69
227Bleeding disorder, platelet-type, 24EnrichmentITGB31.69
228Clear cell ependymomaEnrichmentMEN11.69
229Alopecia - intellectual disability syndromeEnrichmentITGB61.69
230Hyperpigmentation of the skinEnrichmentUSP9X1.69
231Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentPSEN11.67
232CraniosynostosisEnrichmentSMAD6, TCF121.65
233Pulmonary venoocclusive disease 1, autosomal dominantEnrichmentBMPR21.64
234Fibrodysplasia ossificans progressivaEnrichmentBMPR21.64
235Pulmonary venoocclusive disease 1EnrichmentBMPR21.64
236Aortic valve disease 2EnrichmentSMAD61.64
237Proximal symphalangismEnrichmentNOG1.64
238Hereditary mixed polyposis syndromeEnrichmentBMPR1A1.64
239Radioulnar synostosisEnrichmentSMAD61.64
240B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.64
241Pulmonary venoocclusive diseaseEnrichmentBMPR21.64
242B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.64
243Juvenile polyposis of infancyEnrichmentBMPR1A1.64
244Idiopathic/heritable pulmonary arterial hypertensionEnrichmentBMPR21.64
245Visceral heterotaxyEnrichmentACVR2B1.56
246Myeloma, multipleEnrichmentNCOR2, RXRA, TCF31.56
247Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A21.56
248Amelogenesis imperfecta, type iiiaEnrichmentITGB61.56
249Glaucoma 3, primary infantile, bEnrichmentLTBP21.56
250Malignant epithelioid hemangioendotheliomaEnrichmentWWTR11.56
251Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL1.56
252ProlactinomaEnrichmentMEN11.56
253Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A21.56
254Mitral valve insufficiencyEnrichmentFBN11.56
255Primary hyperparathyroidismEnrichmentMEN11.56
256Benign ependymomaEnrichmentMEN11.56
257ScoliosisEnrichmentFBN1, MYF51.50
258Polycystic liver disease 1 with or without kidney cystsEnrichmentFBN11.47
259Arrhythmogenic right ventricular dysplasia, familial, 1EnrichmentTGFB31.47
260Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentFBN11.47
261Rubinstein-taybi syndrome 2EnrichmentEP3001.47
262Glanzmann thrombasthenia 2EnrichmentITGB31.47
263Polycystic liver disease 1EnrichmentFBN11.47
264Myeloproliferative neoplasmEnrichmentCBL1.47
265Juvenile glaucomaEnrichmentLTBP21.47
266Arrhythmogenic right ventricular dysplasia 1EnrichmentTGFB31.47
267Aggressive systemic mastocytosisEnrichmentCBL1.47
268Brachydactyly, type a1EnrichmentBMPR1B1.46
269Brachydactyly, type cEnrichmentBMPR1B1.46
270Acromesomelic dysplasia 2aEnrichmentBMPR1B1.46
271Acromesomelic dysplasia 2cEnrichmentBMPR1B1.46
272MegalocorneaEnrichmentCHRDL11.46
273Acromesomelic dysplasia 2bEnrichmentBMPR1B1.46
274Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP141.46
275Cystic fibrosisEnrichmentTGFB11.43
276Congenital nervous system abnormalityEnrichmentPSEN11.41
277Nervous system diseaseEnrichmentPSEN11.41
278Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A21.39
279Glaucoma, primary open angleEnrichmentLTBP21.39
280Developmental dysplasia of the hip 1EnrichmentTRIM331.39
281Osteogenesis imperfecta, type iEnrichmentCOL1A21.39
282Rubinstein-taybi syndrome 1EnrichmentEP3001.39
283Dental anomalies and short statureEnrichmentLTBP31.39
284Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3001.39
285Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB11.39
286Inguinal herniaEnrichmentFBN11.39
287Chronic mucocutaneous candidiasisEnrichmentSTAT11.39
288Fetomaternal alloimmune thrombocytopenia 1EnrichmentITGB31.39
289Hemophilia aEnrichmentACVRL11.34
290Pitt-hopkins syndromeEnrichmentTCF41.34
291Factor viii deficiencyEnrichmentACVRL11.34
292Multiple synostoses syndromeEnrichmentNOG1.34
293Non-syndromic bicoronal craniosynostosisEnrichmentTCF121.34
294Osteogenesis imperfecta, type iiEnrichmentCOL1A21.32
295Glaucoma 3, primary congenital, aEnrichmentLTBP21.32
296Brugada syndrome 1EnrichmentFBN11.32
297Glanzmann thrombasthenia 1EnrichmentITGB31.32
298Gastrointestinal stromal tumorEnrichmentMEN11.32
299Gastric cancerEnrichmentSMAD41.28
300Renal hypodysplasia/aplasia 1EnrichmentITGA81.27
301Orthostatic intoleranceEnrichmentFBN11.27
302Chondrosarcoma, extraskeletal myxoidEnrichmentTCF121.24
303Ventricular septal defect 1EnrichmentBMP21.24
304Cholangitis, primary sclerosingEnrichmentTCF41.24
305Fuchs' endothelial dystrophyEnrichmentTCF41.24
306Charge syndromeEnrichmentEP3001.22
307Renal agenesis, bilateralEnrichmentITGA81.22
308Amelogenesis imperfecta, type ieEnrichmentITGB61.17
309Stroke, ischemicEnrichmentFBN11.17
310MelanomaEnrichmentFBN11.17
311Autosomal dominant macrothrombocytopeniaEnrichmentITGB31.17
312Primary bone dysplasiaEnrichmentCOL1A21.17
313Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentHELLS1.17
314OsteochondrodysplasiaEnrichmentCOL1A21.13
315Diabetes mellitusEnrichmentMEN11.13
316Autism spectrum disorderEnrichmentTNRC6B1.11
317Oculopharyngodistal myopathy 1EnrichmentGIPC11.10
318Juvenile myelomonocytic leukemiaEnrichmentCBL1.10
319Cutis laxaEnrichmentLTBP41.10
320Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentTGFB31.10
321Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentTGFB31.10
322Osteogenesis imperfecta, type ivEnrichmentCOL1A21.06
323Amelogenesis imperfectaEnrichmentLTBP31.06
324Spastic paraplegia 4, autosomal dominantEnrichmentTCF41.05
325Hemochromatosis, type 1EnrichmentBMP21.05
326OsteoporosisEnrichmentCOL1A21.03
327Periventricular nodular heterotopiaEnrichmentNEDD4L1.03
328Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentTGFB31.03
329Polydactyly, postaxial, type a1EnrichmentEP3001.00
330Osteogenesis imperfecta, type iiiEnrichmentCOL1A21.00
331MyopiaEnrichmentFBN11.00
332Rare genetic intellectual disabilityEnrichmentEP3001.00
333Noonan syndrome and noonan-related syndromeEnrichmentCBL1.00
334Tooth agenesis, selective, 1EnrichmentBMPR21.00
335PolydactylyEnrichmentSMAD61.00
336Colorectal cancerEnrichmentSMAD40.98
337Hydrocephalus, congenital, 1EnrichmentCDK80.98
338Perrault syndrome 1EnrichmentFBN10.98
339HypertensionEnrichmentMEN10.98
340RhabdomyosarcomaEnrichmentCBL0.98
341Autosomal non-syndromic agammaglobulinemiaEnrichmentTCF30.96
342Melanoma, cutaneous malignant 1EnrichmentCDKN2B0.95
343Dandy-walker syndromeEnrichmentPPP1CB0.95
344Familial colorectal cancer type xEnrichmentBMPR1A0.92
345EpicanthusEnrichmentTCF40.88
346Aortic valve disease 1EnrichmentSMAD60.85
347Acute promyelocytic leukemiaEnrichmentRARA0.85
348Stereotypic movement disorderEnrichmentTCF40.85
349Myocardial infarctionEnrichmentITGB30.85
350MicrocephalyEnrichmentMAPK10.84
351Brittle bone disorderEnrichmentCOL1A20.83
352Inherited cancer-predisposing syndromeEnrichmentSMAD40.81
353Severe covid-19EnrichmentITGAV0.74
354Differentiated thyroid carcinomaEnrichmentTRIM330.74
355Arteriovenous malformations of the brainEnrichmentZFYVE160.70
356Non-syndromic x-linked intellectual disabilityEnrichmentUSP9X0.65
357Retinitis pigmentosaEnrichmentARHGEF180.65
358Tooth agenesisEnrichmentGREM20.64
359Skin diseaseEnrichmentNCSTN0.64
360MyopathyEnrichmentFBN10.61
361Hereditary retinal dystrophyEnrichmentARHGEF180.53
362Fundus dystrophyEnrichmentARHGEF180.53
363Hereditary breast ovarian cancer syndromeEnrichmentMEN10.50
364Fetal akinesia deformation sequence 1EnrichmentMYOD10.45
365Distal arthrogryposisEnrichmentMYOD10.41
366Breast cancerEnrichmentCDKN2B0.39
367Dilated cardiomyopathyEnrichmentFBN10.37
368Autosomal dominant non-syndromic intellectual disabilityEnrichmentTCF40.35
369Ovarian cancerEnrichmentBMPR1A0.16

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