Search results for SMAD4

325 hits were found for SMAD4

# Family MCID Name MIFTS Score
1
GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 34 15.773
2
INH023 Inherited Cancer-Predisposing Syndrome 46 10.687
3
P JVN014 Juvenile Polyposis Syndrome 68 6.748
4
P PNC035 Pancreatic Cancer 84 5.108
5
MYH012 Myhre Syndrome 43 5.084
6
P CLR023 Colorectal Cancer 99 4.845
7
JVN012 Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome 52 4.799
8
P BRS047 Breast Cancer 97 3.763
9
RRC013 Rare Carcinoma of Pancreas 31 3.643
10
P ADN016 Adenocarcinoma 64 3.523
11
P HRD008 Hereditary Hemorrhagic Telangiectasia 63 3.379
12
P GST053 Gastric Cancer 83 3.259
13
PNC129 Pancreatic Adenocarcinoma 68 3.146
14
P HPT023 Hepatocellular Carcinoma 100 2.989
15
P PRS040 Prostate Cancer 97 2.970
16
P OVR042 Ovarian Cancer 88 2.950
17
P LNG032 Lung Cancer 98 2.905
18
END057 Endometrial Cancer 74 2.866
19
P PLM037 Pulmonary Hypertension 67 2.819
20
GST040 Gastric Adenocarcinoma 70 2.814
21
SQM006 Squamous Cell Carcinoma 60 2.770
22
ESP021 Esophageal Cancer 90 2.762
23
CRV035 Cervical Cancer 76 2.710
24
ADN018 Adenoma 59 2.710
25
P BLD062 Bile Duct Cancer 67 2.521
26
CLT003 Colitis 62 2.521
27
P LNG064 Lung Cancer Susceptibility 3 78 2.453
28
SQM013 Squamous Cell Carcinoma, Head and Neck 80 2.355
29
P FML011 Familial Adenomatous Polyposis 72 2.298
30
ART016 Aortic Aneurysm 69 2.285
31
BRS099 Breast Ductal Carcinoma 62 2.257
32
CLN015 Colon Adenocarcinoma 65 2.241
33
ART017 Aortic Disease 49 2.241
34
P RHB003 Rhabdomyosarcoma 63 2.224
35
PNC013 Pancreatic Ductal Carcinoma 48 2.224
36
P NSP012 Nasopharyngeal Carcinoma 66 2.205
37
c CWD006 Cowden Syndrome 1 78 2.183
38
P HRT032 Heart Disease 75 2.183
39
ULC004 Ulcerative Colitis 73 2.183
40
P PNC044 Pancreatitis 61 2.183
41
P GLL018 Gallbladder Cancer 57 2.183
42
CLR003 Clear Cell Adenocarcinoma 50 2.183
43
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.150
44
TLN003 Telangiectasis 52 2.144
45
P FML364 Familial Thoracic Aortic Aneurysm and Aortic Dissection 66 1.980
46
SPP011 Suppression of Tumorigenicity 12 59 1.958
47
P RRB004 Rare Breast Tumor 43 1.947
48
ANR040 Aneurysm 59 1.866
49
CHL065 Cholangiocarcinoma 68 1.849
50
ART074 Aortic Dissection 52 1.849
51
INT079 Intrahepatic Cholangiocarcinoma 51 1.849
52
BLR013 Biliary Tract Cancer 42 1.830
53
P CWD010 Cowden Syndrome 67 1.808
54
MSC007 Muscle Hypertrophy 64 1.808
55
ACT119 Acute Promyelocytic Leukemia 63 1.808
56
P BRC006 Brachydactyly 53 1.808
57
CLN044 Colon Adenoma 44 1.808
58
c ART115 Aortic Valve Disease 1 75 1.783
59
PTZ001 Peutz-Jeghers Syndrome 70 1.783
60
P TTR001 Tetralogy of Fallot 70 1.783
61
LNG039 Lung Squamous Cell Carcinoma 66 1.783
62
BRR014 Barrett Esophagus 65 1.783
63
c LCL006 Localized Scleroderma 62 1.783
64
P MCR010 Microcephaly 59 1.783
65
P MLN069 Melanoma, Uveal 59 1.783
66
c PYR010 Peyronie's Disease 50 1.783
67
P SML016 Small Intestine Cancer 50 1.783
68
VPM001 Vipoma 50 1.783
69
ADN009 Adenosquamous Carcinoma 47 1.783
70
ACN001 Acinar Cell Carcinoma 44 1.783
71
MCN008 Mucinous Cystadenocarcinoma 40 1.783
72
AMP013 Ampulla of Vater Cancer 39 1.783
73
P LRG016 Large Intestine Adenocarcinoma 36 1.783
74
HRT036 Heritable Thoracic Aortic Disease 35 1.392
75
P ART067 Aortic Aneurysm, Familial Thoracic 1 61 1.360
76
P LYN001 Lynch Syndrome 77 1.319
77
PLM134 Pulmonary Fibrosis, Idiopathic 77 1.319
78
P LYS001 Loeys-Dietz Syndrome 65 1.319
79
OVR059 Ovary Adenocarcinoma 53 1.319
80
P LFR001 Li-Fraumeni Syndrome 72 1.294
81
P HRD144 Hereditary Mixed Polyposis Syndrome 51 1.294
82
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 67 1.260
83
c LYS021 Loeys-Dietz Syndrome 3 58 1.260
84
c SML009 Small Intestine Adenocarcinoma 57 1.260
85
OVR012 Ovarian Serous Cystadenocarcinoma 56 1.260
86
c SPN395 Spinal Muscular Atrophy, Type Ii 55 1.260
87
c HMC009 Hemochromatosis Type 2 50 1.260
88
NPH018 Nephrogenic Systemic Fibrosis 50 1.260
89
c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 49 1.260
90
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 49 1.260
91
DDN010 Duodenum Cancer 46 1.260
92
CLN045 Colonic Benign Neoplasm 46 1.260
93
c SPN398 Spinal Muscular Atrophy, Type Iv 45 1.260
94
INT253 Intestinal Benign Neoplasm 45 1.260
95
APP010 Appendix Cancer 44 1.260
96
OVR047 Ovarian Cystadenocarcinoma 38 1.260
97
c FML311 Familial Colorectal Cancer Type X 37 1.260
98
DDN027 Duodenum Disease 37 1.260
99
APP018 Appendix Disease 31 1.260
100
TMR001 Tumor of Exocrine Pancreas 30 1.260
101
BRT013 Baritosis 29 1.260
102
CHL155 Childhood Spinal Muscular Atrophy 29 1.260
103
c ATS417 Autosomal Dominant Non-Syndromic Intellectual Disability 19 28 1.260
104
CRD007 Cardiovascular Organ Benign Neoplasm 27 1.260
105
MCN005 Mucinous Intrahepatic Cholangiocarcinoma 24 1.260
106
CLL012 Cell Type Benign Neoplasm 21 1.260
107
GST038 Gastrointestinal Adenoma 20 1.260
108
c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 54 0.352
109
P ART005 Arteriovenous Malformation 65 0.165
110
ORL015 Oral Squamous Cell Carcinoma 43 0.113
111
P SPP010 Suppressor of Tumorigenicity 3 51 0.106
112
P BLD134 Bladder Cancer 79 0.098
113
c BRN108 Branchiootic Syndrome 1 62 0.098
114
THY029 Thyroid Carcinoma 59 0.098
115
RNL077 Renal Fibrosis 47 0.098
116
c THY109 Thyroid Cancer, Nonmedullary, 1 56 0.090
117
c MCR113 Microvascular Complications of Diabetes 3 52 0.090
118
c MCR120 Microvascular Complications of Diabetes 7 47 0.090
119
c MCR130 Microvascular Complications of Diabetes 6 41 0.090
120
c MCR133 Microvascular Complications of Diabetes 4 41 0.090
121
MRF001 Marfan Syndrome 77 0.080
122
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.080
123
OST159 Osteogenic Sarcoma 66 0.080
124
P SKN015 Skin Carcinoma 66 0.080
125
P PLM036 Pulmonary Fibrosis 65 0.080
126
P GLM045 Glioma 63 0.080
127
IRN002 Iron Metabolism Disease 57 0.080
128
GLL048 Glial Tumor 45 0.080
129
PLY073 Polyposis, Gastric 24 0.080
130
c SML038 Small Cell Cancer of the Lung 65 0.069
131
P BND020 Bone Disease 59 0.069
132
MCR013 Microphthalmia 57 0.069
133
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.069
134
HYP266 Hypoxia 57 0.069
135
PRS045 Prostatic Hypertrophy 53 0.069
136
P RCT021 Rectum Cancer 52 0.069
137
PRS129 Prostatic Hyperplasia, Benign 49 0.069
138
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.057
139
P SCH015 Schizophrenia 74 0.057
140
P NRB001 Neuroblastoma 72 0.057
141
DFC004 Deficiency Anemia 70 0.057
142
ADN011 Adenoid Cystic Carcinoma 70 0.057
143
P LVR013 Liver Disease 68 0.057
144
c PRC016 Pre-Eclampsia 63 0.057
145
P END044 Endometriosis 63 0.057
146
ATM095 Autoimmune Disease 62 0.057
147
c WLM018 Wilms Tumor 5 61 0.057
148
P CTR002 Cataract 60 0.057
149
IRN001 Iron Deficiency Anemia 59 0.057
150
ISC004 Ischemia 58 0.057
151
TRN018 Transitional Cell Carcinoma 56 0.057
152
PRP030 Purpura 54 0.057
153
P ALP008 Alopecia 54 0.057
154
ECH003 Echinococcosis 53 0.057
155
P EMB005 Embryonal Rhabdomyosarcoma 53 0.057
156
THR004 Thrombocytosis 51 0.057
157
PRS021 Prostatic Adenoma 51 0.057
158
47X002 47,xyy 49 0.057
159
BNR002 Bone Resorption Disease 48 0.057
160
PPL002 Papillary Carcinoma 47 0.057
161
CHR074 Choriocarcinoma 47 0.057
162
SGN002 Signet Ring Cell Adenocarcinoma 45 0.057
163
URT010 Ureteral Obstruction 45 0.057
164
MCR011 Microinvasive Gastric Cancer 43 0.057
165
P RRT020 Rare Tumor 41 0.057
166
PLM052 Pulmonary Arteriovenous Malformation 39 0.057
167
LKP003 Leukoplakia 39 0.057
168
ORL012 Oral Leukoplakia 39 0.057
169
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.057
170
OVR094 Ovarian Epithelial Cancer 38 0.057
171
PLM151 Pulmonary Arteriovenous Fistulas 34 0.057
172
c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22 0.057
173
c LKM061 Leukemia, Acute Myeloid 84 0.040
174
c FNC027 Fanconi Anemia, Complementation Group a 81 0.040
175
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.040
176
IMM167 Immune Deficiency Disease 78 0.040
177
c HMC039 Hemochromatosis, Type 1 74 0.040
178
c MNN043 Meningioma, Familial 74 0.040
179
CRH001 Crohn's Disease 74 0.040
180
SVR004 Severe Combined Immunodeficiency 73 0.040
181
BRT054 Brittle Bone Disorder 72 0.040
182
c HPT073 Hepatitis C Virus 72 0.040
183
P MYC007 Myocardial Infarction 70 0.040
184
DWN001 Down Syndrome 70 0.040
185
P MYP004 Myopathy 70 0.040
186
P OCL013 Oculodentodigital Dysplasia 69 0.040
187
P LKM062 Leukemia, Acute Lymphoblastic 69 0.040
188
P LYM118 Lymphoma 68 0.040
189
c BSL007 Basal Cell Carcinoma 68 0.040
190
P LKM002 Leukemia 68 0.040
191
P THR014 Thrombocytopenia 67 0.040
192
P HPT021 Hepatitis 67 0.040
193
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.040
194
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.040
195
GRG001 Greig Cephalopolysyndactyly Syndrome 66 0.040
196
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.040
197
P CLD001 Cleidocranial Dysplasia 65 0.040
198
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.040
199
CLF027 Cleft Palate, Isolated 64 0.040
200
c JVN010 Juvenile Rheumatoid Arthritis 64 0.040
201
CNG510 Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi 64 0.040
202
c GST103 Gastric Cancer, Hereditary Diffuse 64 0.040
203
P VSC007 Vascular Disease 63 0.040
204
P CRN300 Coronary Heart Disease 1 63 0.040
205
PTR032 Peters-Plus Syndrome 63 0.040
206
LPD008 Lipid Metabolism Disorder 62 0.040
207
c HPT001 Hepatitis C 62 0.040
208
P ART023 Arthropathy 62 0.040
209
MNN042 Meningioma, Radiation-Induced 62 0.040
210
LVR012 Liver Cirrhosis 62 0.040
211
FTT001 Fatty Liver Disease 61 0.040
212
OSS012 Osseous Heteroplasia, Progressive 61 0.040
213
RTN017 Retinal Detachment 61 0.040
214
P NPH012 Nephrotic Syndrome 60 0.040
215
c JVN061 Juvenile Arthritis 60 0.040
216
P VNT002 Ventricular Septal Defect 60 0.040
217
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.040
218
THR100 Thrombocytopenic Purpura, Autoimmune 60 0.040
219
P SNS001 Sensorineural Hearing Loss 60 0.040
220
P FTT008 Fatty Liver Disease, Nonalcoholic 1 60 0.040
221
ORL011 Oral Cancer 60 0.040
222
HYD002 Hydronephrosis 60 0.040
223
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.040
224
c HPT016 Hepatitis B 59 0.040
225
P BRS044 Breast Adenocarcinoma 59 0.040
226
HLC007 Helicobacter Pylori Infection 59 0.040
227
P PLY006 Polydactyly 59 0.040
228
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.040
229
ANT024 Anthrax Disease 58 0.040
230
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.040
231
CNS004 Constipation 58 0.040
232
c THY102 Thyroid Cancer, Nonmedullary, 2 58 0.040
233
P INF032 Infertility 57 0.040
234
P GLM007 Glomerulonephritis 57 0.040
235
BRN056 Bronchopulmonary Dysplasia 57 0.040
236
P EXN002 Exanthem 57 0.040
237
SKN022 Skin Squamous Cell Carcinoma 57 0.040
238
ERY051 Erythroleukemia, Familial 56 0.040
239
P NRP001 Neuropathy 56 0.040
240
SFT003 Soft Tissue Sarcoma 56 0.040
241
PRS047 Prostatitis 56 0.040
242
DBL002 Double Outlet Right Ventricle 56 0.040
243
CYS008 Cystic Echinococcosis 56 0.040
244
P NRF002 Neurofibromatosis 56 0.040
245
c MCR256 Microphthalmia, Syndromic 9 56 0.040
246
P PNM006 Pneumoconiosis 56 0.040
247
P RST002 Restrictive Cardiomyopathy 56 0.040
248
GNG005 Gangliocytoma 55 0.040
249
HNC001 Henoch-Schoenlein Purpura 55 0.040
250
HYP060 Hyperinsulinism 54 0.040
251
GLC003 Glucose Intolerance 54 0.040
252
P INF037 Inflammatory Bowel Disease 54 0.040
253
PRC013 Pericarditis 54 0.040
254
HMS001 Hemosiderosis 54 0.040
255
SNS003 Sensory Peripheral Neuropathy 54 0.040
256
NNL006 Non-Alcoholic Steatohepatitis 54 0.040
257
FRZ001 Frozen Shoulder 53 0.040
258
P ACT008 Actinic Keratosis 53 0.040
259
P ANT088 Anterior Segment Dysgenesis 52 0.040
260
GNG002 Ganglioneuroma 52 0.040
261
c VRL010 Viral Hepatitis 52 0.040
262
P HYP730 Hypogonadotropic Hypogonadism 52 0.040
263
P MSC003 Muscular Atrophy 52 0.040
264
P TRT010 Teratoma 52 0.040
265
KRT009 Keratosis 51 0.040
266
CLR109 Colorectal Adenocarcinoma 51 0.040
267
LNG031 Lung Benign Neoplasm 51 0.040
268
SPN021 Spinal Meningioma 50 0.040
269
HRT011 Heart Septal Defect 50 0.040
270
HYP080 Hypogonadism 50 0.040
271
MCN001 Mucinous Adenocarcinoma 49 0.040
272
ALV002 Alveolar Echinococcosis 49 0.040
273
MCR004 Macroglobulinemia 49 0.040
274
VCC001 Vaccinia 49 0.040
275
END062 Endometrial Hyperplasia 48 0.040
276
IGG001 Iga Glomerulonephritis 48 0.040
277
VLV034 Vulva Squamous Cell Carcinoma 48 0.040
278
ANT018 Anthracosis 48 0.040
279
HLX001 Helix Syndrome 47 0.040
280
THY128 Thyroid Tumor 47 0.040
281
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 47 0.040
282
GST071 Gastrointestinal Carcinoma 47 0.040
283
P CRC039 Coarctation of Aorta 47 0.040
284
P PRC019 Precocious Puberty 46 0.040
285
RTN020 Retinal Vascular Disease 46 0.040
286
c LFR007 Li-Fraumeni Syndrome 2 45 0.040
287
CYN002 Cyanosis, Transient Neonatal 45 0.040
288
PRT019 Protein-Losing Enteropathy 45 0.040
289
P DFF019 Diffuse Gastric Cancer 45 0.040
290
APP009 Appendix Adenocarcinoma 44 0.040
291
c PCH010 Pachyonychia Congenita 3 44 0.040
292
DWR001 Dwarfism 44 0.040
293
LRY018 Laryngeal Squamous Cell Carcinoma 44 0.040
294
TNG009 Tongue Squamous Cell Carcinoma 44 0.040
295
SMN007 Seminoma 43 0.040
296
HYP457 Hypertrophic Scars 42 0.040
297
TRP009 Triple X Syndrome 42 0.040
298
49X006 49, Xxxxy Syndrome 41 0.040
299
P RRH023 Rare Hereditary Hemochromatosis 41 0.040
300
HYP466 Hyperplastic Polyposis Syndrome 41 0.040
301
SCR001 Secretory Meningioma 41 0.040
302
VLL006 Villous Adenoma 40 0.040
303
KLD004 Keloid Disorder 40 0.040
304
c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 39 0.040
305
P CRN074 Coronary Artery Aneurysm 39 0.040
306
ERM002 Ear Malformation 39 0.040
307
CRN006 Coronary Aneurysm 39 0.040
308
c PRG020 Paragangliomas 3 39 0.040
309
RVL002 Ruvalcaba Syndrome 37 0.040
310
PLC006 Placental Choriocarcinoma 36 0.040
311
P ADT009 Auditory Neuropathy Spectrum Disorder 36 0.040
312
OVR011 Ovarian Mucinous Adenocarcinoma 36 0.040
313
HRW001 Hair Whorl 36 0.040
314
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.040
315
c FML053 Familial Colorectal Cancer 35 0.040
316
PPL052 Papillomatosis, Confluent and Reticulated 33 0.040
317
OVR109 Ovarian Germ Cell Teratoma 32 0.040
318
c DNT047 Dentinogenesis Imperfecta Type 2 31 0.040
319
CHL078 Childhood-Onset Schizophrenia 30 0.040
320
MTY003 Mutyh Polyposis 30 0.040
321
TRT017 Teratoma, Ovarian 29 0.040
322
c PNC103 Pancreatic Cancer 4 28 0.040
323
INT358 Intestinal Polyposis Syndrome 25 0.040
324
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 21 0.040
325
MCN019 Mucinous Adenocarcinoma of Ovary 16 0.040
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