Regulation of nuclear SMAD2/3 signaling

No Pathway Network information available for Regulation of nuclear SMAD2/3 signaling

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

Disorders associated with Regulation of nuclear SMAD2/3 signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Witteveen-kolk syndromeEnrichmentSIN3A, SIN3B4.53
2Familial thoracic aortic aneurysm and aortic dissectionEnrichmentSKI, SMAD2, SMAD3, SMAD44.03
3Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN2B3.22
4Breast cancerEnrichmentAKT1, CDKN2B, ESR1, JUN3.13
5Loeys-dietz syndromeEnrichmentSMAD2, SMAD32.99
6Septopreoptic holoprosencephalyEnrichmentFOXH1, TGIF12.53
7Midline interhemispheric variant of holoprosencephalyEnrichmentFOXH1, TGIF12.53
8Microform holoprosencephalyEnrichmentFOXH1, TGIF12.47
9Lobar holoprosencephalyEnrichmentFOXH1, TGIF12.47
10Alobar holoprosencephalyEnrichmentFOXH1, TGIF12.42
11Semilobar holoprosencephalyEnrichmentFOXH1, TGIF12.37
12Ehlers-danlos syndromeEnrichmentCOL1A2, SMAD32.33
13Proteus syndromeEnrichmentAKT12.26
14Atrial septal defect 7 with or without atrioventricular conduction defectsEnrichmentNKX2-52.26
15Ehlers-danlos syndrome, cardiac valvular typeEnrichmentCOL1A22.26
16Prostate cancer, hereditary, x-linked 3EnrichmentAR2.26
17Hypothyroidism, congenital, nongoitrous, 5EnrichmentNKX2-52.26
18Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalitiesEnrichmentGSC2.26
19Androgen insensitivity, partialEnrichmentAR2.26
20Spermatogenic failure, x-linked, 9EnrichmentRBBP72.26
21Holoprosencephaly 4EnrichmentTGIF12.26
22Immunodeficiency 39 viral infectionsEnrichmentIRF72.26
23Glucocorticoid resistance, generalizedEnrichmentNR3C12.26
24Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngEnrichmentHNF4A2.26
25Shprintzen-goldberg craniosynostosis syndromeEnrichmentSKI2.26
26Agammaglobulinemia 8b, autosomal recessiveEnrichmentTCF32.26
27Combined osteogenesis imperfecta and ehlers-danlos syndrome 2EnrichmentCOL1A22.26
28Renal cell carcinoma, xp11-associatedEnrichmentTFE32.26
29Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse faciesEnrichmentTFE32.26
30Graft-versus-host diseaseEnrichmentIL102.26
31Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.26
32Immunodeficiency 39EnrichmentIRF72.26
33Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.26
34Agammaglobulinemia 8a, autosomal dominantEnrichmentTCF32.26
35Ventricular septal defect 3EnrichmentNKX2-52.26
36Polydactyly-macrocephaly syndromeEnrichmentMAX2.26
37Cowden syndrome 6EnrichmentAKT12.26
38Congenital myopathy 17EnrichmentMYOD12.26
39Loeys-dietz syndrome 6EnrichmentSMAD22.26
40Colorectal cancer 3EnrichmentSMAD72.26
41Hypoplastic left heart syndrome 2EnrichmentNKX2-52.26
42Congenital heart defects, multiple types, 8, with or without heterotaxyEnrichmentSMAD22.26
43Heritable thoracic aortic diseaseEnrichmentSMAD42.26
44RicketsEnrichmentVDR2.26
45Chromosome 15q24 deletion syndromeEnrichmentSIN3A2.26
46Hyperinsulinism due to hnf4a deficiencyEnrichmentHNF4A2.26
475q14.3 microdeletion syndromeEnrichmentMEF2C2.26
48Aortic arch interruptionEnrichmentNKX2-52.26
49Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.26
50Foxg1 syndrome due to intragenic alterationEnrichmentFOXG12.26
51Complete androgen insensitivity syndromeEnrichmentAR2.26
52Atrial heart septal defect 7EnrichmentNKX2-52.26
53Foxg1 syndrome due to 14q12 microdeletionEnrichmentFOXG12.26
54Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.26
55Mef2c-related disorderEnrichmentMEF2C2.26
56Burkitt lymphomaEnrichmentMYC1.96
57Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndromeEnrichmentGATA31.96
58Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyEnrichmentRUNX21.96
59Maturity-onset diabetes of the young, type 1EnrichmentHNF4A1.96
60Myhre syndromeEnrichmentSMAD41.96
61Storage pool platelet diseaseEnrichmentRUNX11.96
62Bruck syndrome 1EnrichmentCOL1A21.96
63Galactosemia iiEnrichmentNR3C11.96
64Spinal and bulbar muscular atrophy, x-linked 1EnrichmentAR1.96
65Alveolar soft part sarcomaEnrichmentTFE31.96
66Histiocytoma, angiomatoid fibrousEnrichmentCREB11.96
67Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeEnrichmentSMAD41.96
68Loeys-dietz syndrome 3EnrichmentSMAD31.96
69Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeEnrichmentCTBP11.96
7046,xy sex reversal 1EnrichmentAR1.96
71Androgen insensitivity syndromeEnrichmentAR1.96
72Ehlers-danlos syndrome, arthrochalasia type, 2EnrichmentCOL1A21.96
73Menke-hennekam syndrome 2EnrichmentEP3001.96
74Hypospadias 1, x-linkedEnrichmentAR1.96
75Cleidocranial dysplasia 2EnrichmentCBFB1.96
76Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizuresEnrichmentSNIP11.96
77B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentGATA31.96
78Hypoparathyroidism-deafness-renal disease syndromeEnrichmentGATA31.96
79Familial isolated congenital aspleniaEnrichmentNKX2-51.96
80Ehlers-danlos/osteogenesis imperfecta syndromeEnrichmentCOL1A21.96
81B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)EnrichmentTCF31.96
82Autosomal dominant nonsyndromic deafnessEnrichmentGATA31.96
83Deletion 5q35EnrichmentNKX2-51.96
84Posterior hypospadiasEnrichmentAR1.96
85HyperinsulinismEnrichmentHNF4A1.96
86Hyperinsulinism due to hnf1a deficiencyEnrichmentHNF4A1.96
87Dentinogenesis imperfectaEnrichmentCOL1A21.96
88B-lymphoblastic leukemia/lymphoma with t(17;19)EnrichmentTCF31.96
89Tafro syndromeEnrichmentRUNX11.96
90Colorectal cancerEnrichmentAKT1, EP300, SMAD41.92
91Cleidocranial dysplasia 1EnrichmentRUNX21.79
92Juvenile polyposis syndromeEnrichmentSMAD41.79
93Platelet disorder, familial, with associated myeloid malignancyEnrichmentRUNX11.79
94Estrogen resistanceEnrichmentESR11.79
95High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.79
96Loeys-dietz syndrome 1EnrichmentSMAD21.79
97Cleidocranial dysplasiaEnrichmentRUNX21.79
98Migraine without auraEnrichmentESR11.79
99End stage renal diseaseEnrichmentGATA31.79
100High bone mass osteogenesis imperfectaEnrichmentCOL1A21.79
101Melanoma of soft tissueEnrichmentCREB11.79
102Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1EnrichmentRUNX11.79
103Renal cell carcinomaEnrichmentTFE31.79
104Ehlers-danlos syndrome, arthrochalasia type, 1EnrichmentCOL1A21.66
105Maturity-onset diabetes of the young, type 3EnrichmentHNF4A1.66
106Congenital generalized lipodystrophyEnrichmentFOS1.66
107Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR11.66
108Malignant epithelioid hemangioendotheliomaEnrichmentTFE31.66
109Aortic aneurysmEnrichmentSMAD31.66
110Blood platelet diseaseEnrichmentRUNX11.66
111Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentCBFB1.66
112Hereditary progressive cardiac conduction defectEnrichmentNKX2-51.66
113Osteogenesis imperfecta with normal sclerae, dominant formEnrichmentCOL1A21.66
114Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.66
115Hereditary breast carcinomaEnrichmentAKT1, ESR11.62
116Vitamin d-dependent rickets, type 2aEnrichmentVDR1.57
117Rhabdomyosarcoma 2EnrichmentFOXO11.57
118Goldberg-shprintzen syndromeEnrichmentSKI1.57
119Rubinstein-taybi syndrome 2EnrichmentEP3001.57
120Histiocytoid hemangiomaEnrichmentFOS1.57
121Aggressive systemic mastocytosisEnrichmentRUNX11.57
122Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentRUNX11.57
123Persistent truncus arteriosusEnrichmentNKX2-51.57
124Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSMAD41.57
125ThrombocytopeniaEnrichmentRUNX1, SMAD41.55
126Ehlers-danlos syndrome, classic type, 1EnrichmentCOL1A21.49
127Osteogenesis imperfecta, type iEnrichmentCOL1A21.49
128Myopathy, centronuclear, 1EnrichmentMYOD11.49
129Wolf-hirschhorn syndromeEnrichmentCTBP11.49
130Conotruncal heart malformationsEnrichmentNKX2-51.49
131Rubinstein-taybi syndrome 1EnrichmentEP3001.49
132Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3001.49
133PancytopeniaEnrichmentRUNX11.49
134Double outlet right ventricleEnrichmentNKX2-51.49
135Il10-related early-onset inflammatory bowel diseaseEnrichmentIL101.49
136Breast adenocarcinomaEnrichmentAKT11.49
137Classic ehlers-danlos syndromeEnrichmentCOL1A21.49
138Inherited cancer-predisposing syndromeEnrichmentMAX, RUNX1, SMAD41.45
139Osteogenesis imperfecta, type iiEnrichmentCOL1A21.43
140Hypothyroidism, congenital, nongoitrous, 2EnrichmentNKX2-51.43
141Rett syndromeEnrichmentFOXG11.43
142Leukemia, chronic myeloidEnrichmentRUNX11.43
143Renal cell carcinoma with mit translocationsEnrichmentTFE31.43
144Gallbladder cancerEnrichmentSMAD41.43
145Hereditary hemorrhagic telangiectasiaEnrichmentSMAD41.43
146Rett syndrome, congenital variantEnrichmentFOXG11.37
147Hypoplastic left heart syndromeEnrichmentNKX2-51.37
148Difference of sex developmentEnrichmentAR1.37
149Rheumatoid arthritisEnrichmentIL101.32
150Charge syndromeEnrichmentEP3001.32
151Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentRUNX11.32
152Primary hyperaldosteronismEnrichmentNR3C11.32
153Cowden syndromeEnrichmentAKT11.32
154Familial thoracic aortic aneurysm and dissectionEnrichmentSMAD31.32
155Optic nerve diseaseEnrichmentFOXG11.27
156Autosomal non-syndromic agammaglobulinemiaEnrichmentTCF31.27
157Primary bone dysplasiaEnrichmentCOL1A21.27
158Migraine with or without aura 1EnrichmentESR11.23
159Atrial heart septal defectEnrichmentNKX2-51.23
16046,xy complete gonadal dysgenesisEnrichmentAR1.23
161OsteochondrodysplasiaEnrichmentCOL1A21.23
162Interatrial communicationEnrichmentNKX2-51.23
163MeningiomaEnrichmentAKT11.20
164Aortic valve disease 1EnrichmentNKX2-51.16
165Osteogenesis imperfecta, type ivEnrichmentCOL1A21.16
166Pulmonary disease, chronic obstructiveEnrichmentVDR1.16
167Chromosome 1p36 deletion syndromeEnrichmentSKI1.16
168Stereotypic movement disorderEnrichmentFOXG11.16
169OsteoporosisEnrichmentCOL1A21.13
170PheochromocytomaEnrichmentMAX1.13
171Aortic aneurysm, familial thoracic 1EnrichmentSMAD31.13
172Heart diseaseEnrichmentNKX2-51.13
173Polydactyly, postaxial, type a1EnrichmentEP3001.10
174Osteogenesis imperfecta, type iiiEnrichmentCOL1A21.10
175Rare genetic intellectual disabilityEnrichmentEP3001.10
176Isolated congenital microcephalyEnrichmentFOXG11.08
177Melanoma, cutaneous malignant 1EnrichmentCDKN2B1.05
178Polycystic liver diseaseEnrichmentHNF4A1.05
179Autosomal dominant polycystic liver diseaseEnrichmentHNF4A1.05
180Human immunodeficiency virus type 1EnrichmentIL101.03
181Patent foramen ovaleEnrichmentNKX2-51.03
182Behcet syndromeEnrichmentIL101.01
183Diffuse large b-cell lymphomaEnrichmentFOXO11.01
184Maturity-onset diabetes of the youngEnrichmentHNF4A0.98
185Ovarian cancerEnrichmentAKT1, AR0.98
186LissencephalyEnrichmentFOXG10.96
187Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.96
188Hepatocellular carcinomaEnrichmentVDR0.95
189Myocardial infarctionEnrichmentESR10.95
190Multisystem inflammatory syndrome in childrenEnrichmentIFNB10.95
191Brittle bone disorderEnrichmentCOL1A20.93
192Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC0.93
193Familial atrial fibrillationEnrichmentNKX2-50.91
194Pancreatic cancerEnrichmentSMAD40.89
195Tetralogy of fallotEnrichmentNKX2-50.88
196StrabismusEnrichmentFOXG10.86
197Bladder cancerEnrichmentCDKN1A0.83
198Prostate cancerEnrichmentAR0.83
199Connective tissue diseaseEnrichmentSMAD30.79
200Male infertilityEnrichmentAR0.77
201CakutEnrichmentGATA30.77
202Left ventricular noncompactionEnrichmentNKX2-50.76
203Fetal akinesia deformation sequence 1EnrichmentMYOD10.74
204Systemic lupus erythematosusEnrichmentIL100.72
205Leukemia, acute myeloidEnrichmentRUNX10.71
206Benign epilepsy with centrotemporal spikesEnrichmentSNIP10.70
207Type 2 diabetes mellitusEnrichmentHNF4A0.69
208Distal arthrogryposisEnrichmentMYOD10.69
209Centralopathic epilepsyEnrichmentSNIP10.68
210Gastric cancerEnrichmentSMAD40.68
211Nephrotic syndromeEnrichmentRUNX20.68
212Myeloma, multipleEnrichmentTCF30.58
213Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentAR0.58
214Undetermined early-onset epileptic encephalopathyEnrichmentFOXG10.58
215Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.56
216Dilated cardiomyopathyEnrichmentNKX2-50.45
217Congenital nervous system abnormalityEnrichmentFOXG10.36
218Nervous system diseaseEnrichmentFOXG10.36
219Autism spectrum disorderEnrichmentMEF2C0.35
220MicrocephalyEnrichmentEP3000.31

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