Search results for bmp4

718 hits were found for bmp4

# Family MCID Name MIFTS Score
1
c MCR251 Microphthalmia, Syndromic 6 48 42.676
2
c ORF027 Orofacial Cleft 11 35 41.351
3
P ORF002 Orofacial Cleft 43 18.230
4
P CLR023 Colorectal Cancer 100 17.112
5
CLF001 Cleft Lip 54 16.877
6
MCR013 Microphthalmia 59 15.938
7
P BRS047 Breast Cancer 97 15.473
8
TTH002 Tooth Agenesis 61 15.206
9
P PRS040 Prostate Cancer 95 14.906
10
P PLM037 Pulmonary Hypertension 69 13.889
11
CLF027 Cleft Palate, Isolated 64 13.755
12
EMB004 Embryonal Carcinoma 55 13.224
13
FBR011 Fibrodysplasia Ossificans Progressiva 67 11.981
14
NRL016 Neural Tube Defects 80 11.730
15
P HRT032 Heart Disease 84 11.480
16
P OPN001 Open-Angle Glaucoma 55 11.434
17
P OST002 Osteoporosis 76 11.340
18
P RHB003 Rhabdomyosarcoma 66 11.247
19
P PHC003 Pheochromocytoma 70 10.519
20
CKT002 Cakut 48 10.516
21
BRR014 Barrett Esophagus 66 10.381
22
CLF004 Cleft Lip/palate 56 10.029
23
P DBT009 Diabetes Mellitus 67 9.769
24
P OTS001 Otosclerosis 49 9.674
25
PTT001 Pituitary Hypoplasia 34 9.538
26
P SCL018 Scoliosis 57 9.521
27
P STR020 Strabismus 56 9.351
28
P APL001 Aplastic Anemia 72 9.335
29
P SHR029 Short Syndrome 59 9.303
30
INT323 Intraocular Pressure Quantitative Trait Locus 63 9.303
31
PTR032 Peters-Plus Syndrome 63 9.267
32
P STC001 Stickler Syndrome 60 9.248
33
P SYN165 Syndromic Microphthalmia 34 9.227
34
OSS012 Osseous Heteroplasia, Progressive 61 9.204
35
CLF056 Cleft Lip with or Without Cleft Palate 43 8.891
36
BRN032 Brain Glioma 45 8.838
37
P CTR002 Cataract 59 8.740
38
c BSL007 Basal Cell Carcinoma 67 8.651
39
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 8.623
40
ANK001 Ankylosis 50 8.588
41
c ART115 Aortic Valve Disease 1 72 8.544
42
PLM026 Pilomatrixoma 57 8.544
43
P FBR025 Fibrochondrogenesis 55 8.437
44
BLL004 Bullous Keratopathy 48 8.437
45
c RNL122 Renal Hypodysplasia/aplasia 3 45 8.315
46
CLB026 Colobomatous Microphthalmia 48 8.315
47
P RNL100 Renal Hypodysplasia/aplasia 1 63 7.806
48
P ANT088 Anterior Segment Dysgenesis 54 7.645
49
CHR619 Chromosome 2q35 Duplication Syndrome 64 7.556
50
P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52 7.404
51
P PRX021 Proximal Symphalangism 50 7.214
52
HRT011 Heart Septal Defect 49 7.182
53
P HLP001 Holoprosencephaly 68 7.166
54
DGR001 Digeorge Syndrome 62 7.098
55
FND002 Fundus Dystrophy 54 7.015
56
P ATR010 Atrial Heart Septal Defect 58 6.974
57
CLB010 Coloboma of Macula 53 6.935
58
OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 48 6.908
59
c DPH024 Diaphragmatic Hernia, Congenital 63 6.894
60
c VSC019 Vesicoureteral Reflux 1 56 6.848
61
P SYN075 Syngnathia 43 6.756
62
ULN003 Ulnar-Mammary Syndrome 56 6.707
63
P TTR001 Tetralogy of Fallot 69 6.645
64
BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41 6.645
65
MYS001 Myositis Ossificans 44 6.645
66
ORF053 Orofacial Clefting Syndrome 31 6.455
67
P ANR048 Aniridia 1 66 6.269
68
TTH032 Tooth Size 35 6.249
69
BLR002 Bile Reflux 38 6.180
70
P AXN002 Axenfeld-Rieger Syndrome 62 6.180
71
BRN003 Branchiooculofacial Syndrome 52 6.117
72
P VND007 Van Der Woude Syndrome 1 60 6.073
73
DBL002 Double Outlet Right Ventricle 56 6.073
74
P BRN006 Branchiootorenal Syndrome 51 6.073
75
P ATR001 Atrioventricular Septal Defect 54 5.966
76
c BRC079 Brachydactyly, Type A2 51 5.966
77
CRZ001 Crouzon Syndrome 64 5.966
78
SRS007 Sorsby Fundus Dystrophy 51 5.966
79
LYM004 Lymphoid Interstitial Pneumonia 49 5.966
80
BRT054 Brittle Bone Disorder 74 5.966
81
c BRC080 Brachydactyly, Type A1, B 38 5.966
82
P JVN014 Juvenile Polyposis Syndrome 65 5.966
83
P RTN008 Retinitis Pigmentosa 79 5.966
84
HYL004 Hyaline Fibromatosis Syndrome 67 5.966
85
P BND014 Bone Development Disease 33 5.966
86
PHY002 Physical Disorder 40 5.966
87
CHR490 Chromosome 10q23 Deletion Syndrome 26 5.966
88
P HRD144 Hereditary Mixed Polyposis Syndrome 54 5.966
89
CLC011 Cloacal Exstrophy 34 5.966
90
OST015 Osteochondrodysplasia 60 5.966
91
CHR096 Chronic Pulmonary Heart Disease 41 5.966
92
DSS008 Disease of Mental Health 74 5.966
93
RSP023 Rasopathy 54 5.966
94
GRM005 Germ Cell Cancer 46 5.966
95
GRM001 Germ Cell and Embryonal Cancer 28 5.966
96
DFF006 Diffuse Idiopathic Skeletal Hyperostosis 50 5.966
97
HRD016 Hereditary Retinal Dystrophy 33 5.966
98
SYN031 Synovial Chondromatosis 42 5.966
99
OLG020 Oligoarticular Juvenile Idiopathic Arthritis 46 5.966
100
P HPT023 Hepatocellular Carcinoma 95 3.467
101
GLM045 Glioma 62 2.888
102
GLL048 Glial Tumor 51 2.888
103
GLB002 Glioblastoma 67 2.450
104
c PLM164 Pulmonary Hypertension, Primary, 1 75 2.323
105
P PLY006 Polydactyly 58 2.307
106
HYP266 Hypoxia 56 2.268
107
HLX001 Helix Syndrome 47 2.218
108
P OVR042 Ovarian Cancer 88 2.212
109
FRY006 Fryns Microphthalmia Syndrome 52 2.086
110
P LNG032 Lung Cancer 98 1.966
111
DFC004 Deficiency Anemia 74 1.925
112
c MCR133 Microvascular Complications of Diabetes 4 41 1.925
113
c MCR113 Microvascular Complications of Diabetes 3 52 1.925
114
c MCR130 Microvascular Complications of Diabetes 6 41 1.925
115
c MCR120 Microvascular Complications of Diabetes 7 47 1.925
116
P ADN016 Adenocarcinoma 63 1.882
117
P LNG064 Lung Cancer Susceptibility 3 69 1.873
118
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.864
119
P INF032 Infertility 60 1.848
120
P MLN007 Male Infertility 56 1.831
121
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 1.711
122
P BLD134 Bladder Cancer 79 1.568
123
HYD002 Hydronephrosis 58 1.534
124
HGH043 High Grade Glioma 46 1.519
125
P NRB001 Neuroblastoma 66 1.483
126
P GST053 Gastric Cancer 82 1.460
127
P OVR082 Overgrowth Syndrome 41 1.449
128
c SML038 Small Cell Cancer of the Lung 68 1.427
129
P TRT010 Teratoma 50 1.416
130
SVR004 Severe Combined Immunodeficiency 70 1.404
131
P VSC007 Vascular Disease 62 1.397
132
AZS001 Azoospermia 45 1.380
133
SQM006 Squamous Cell Carcinoma 59 1.368
134
P MYP006 Myopia 55 1.368
135
P CRD119 Cardiac Arrest 68 1.361
136
PRT036 Peritonitis 65 1.361
137
P VNT002 Ventricular Septal Defect 58 1.328
138
P HYP083 Hypopituitarism 51 1.328
140
48X005 48,xyyy 39 1.302
141
RTN017 Retinal Detachment 60 1.292
142
RNL078 Renal Dysplasia 46 1.284
143
c LKM061 Leukemia, Acute Myeloid 83 1.281
144
TRC035 Tracheal Agenesis 31 1.259
145
PLY150 Polykaryocytosis Inducer 29 1.248
146
P PLY011 Polycystic Ovary Syndrome 57 1.248
147
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 1.237
148
c SYM022 Symphalangism, Proximal, 1a 29 1.237
149
c BRC052 Brachydactyly, Type B2 40 1.225
150
STP011 Stapes Ankylosis with Broad Thumbs and Toes 28 1.225
151
P MSC005 Muscular Dystrophy 66 1.225
152
P PRD008 Periodontitis 63 1.213
153
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.200
154
P SNS001 Sensorineural Hearing Loss 60 1.200
155
P ALZ034 Alzheimer Disease 87 1.187
156
P MYL006 Myeloid Leukemia 60 1.187
157
P SCL047 Sclerocornea 32 1.174
158
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.174
159
P PLY147 Polydactyly, Postaxial, Type A1 52 1.174
160
P PNC035 Pancreatic Cancer 87 1.173
161
MSC157 Muscular Dystrophy, Duchenne Type 78 1.161
162
LNG039 Lung Squamous Cell Carcinoma 57 1.161
163
ATH013 Atherosclerosis Susceptibility 63 1.147
164
OST159 Osteogenic Sarcoma 66 1.143
165
PLM129 Pulmonary Disease, Chronic Obstructive 74 1.117
166
BRN028 Brain Cancer 73 1.117
167
c GLC092 Glaucoma, Primary Open Angle 60 1.101
168
c HPT073 Hepatitis C Virus 70 1.100
169
PPL052 Papillomatosis, Confluent and Reticulated 34 1.085
170
HRW001 Hair Whorl 35 1.074
171
P HYP086 Hypothyroidism 68 1.067
172
ACT098 Acute Erythroid Leukemia 55 1.067
173
c INH030 Inherited Retinal Disorder 28 1.049
174
HYP066 Hyperglycemia 60 1.030
175
IDP070 Idiopathic Scoliosis 41 1.029
176
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 1.029
177
P MLN008 Melanoma 75 1.029
178
c TYP009 Type 2 Diabetes Mellitus 91 1.018
179
MYL069 Myeloma, Multiple 76 1.018
180
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 1.006
181
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 1.006
182
PST106 Post-Cardiac Arrest Syndrome 31 1.006
183
CYT002 Cytokine Deficiency 43 1.006
184
CNT061 Conotruncal Heart Malformations 66 0.994
185
BNR002 Bone Resorption Disease 47 0.982
186
PRT251 Proteinuria, Chronic Benign 58 0.969
187
P RTN024 Retinoblastoma 72 0.956
188
c LKM063 Leukemia, Chronic Myeloid 70 0.956
189
ISC004 Ischemia 61 0.956
190
P ESP024 Esophagitis 60 0.956
191
SKN019 Skin Melanoma 70 0.942
192
P LKM002 Leukemia 65 0.928
193
ADN018 Adenoma 58 0.928
194
P HYP040 Hypospadias 51 0.928
195
P HYD006 Hydrocephalus 62 0.928
196
P BCL017 B-Cell Lymphoma 57 0.928
197
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 0.914
198
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.914
199
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.914
200
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.914
201
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.914
202
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.914
203
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.914
204
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 0.914
205
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.914
206
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.914
207
SMN007 Seminoma 42 0.914
208
HYP043 Hyperandrogenism 47 0.914
209
MCH006 Mechanical Strabismus 40 0.914
210
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.898
212
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 39 0.898
213
c HYP595 Hypertension, Essential 84 0.898
214
c PRC016 Pre-Eclampsia 64 0.898
215
P ART022 Arthritis 70 0.898
216
ORL004 Oral Submucous Fibrosis 56 0.898
217
SX2004 Sox2 Disorder 13 0.898
218
HLT001 Holt-Oram Syndrome 66 0.883
219
P SPR119 Spermatogenic Failure, X-Linked, 1 36 0.883
220
c MCR115 Microvascular Complications of Diabetes 5 65 0.883
221
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.866
222
P LKM062 Leukemia, Acute Lymphoblastic 69 0.849
223
RTN020 Retinal Vascular Disease 45 0.849
224
DMY004 Demyelinating Disease 50 0.849
225
GLC003 Glucose Intolerance 53 0.849
226
CYS021 Cystic Adenomatoid Malformation of Lung 33 0.849
227
FTT001 Fatty Liver Disease 61 0.849
228
P THL005 Thalassemia 56 0.849
229
OVR094 Ovarian Epithelial Cancer 39 0.849
230
HYP056 Hypoglycemia 65 0.849
231
PRM013 Premature Menopause 57 0.830
232
MSC086 Mesocardia 14 0.830
233
THY029 Thyroid Carcinoma 55 0.830
234
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.811
235
c PNC106 Pancreatic Agenesis 1 51 0.811
236
PNC034 Pancreas Disease 49 0.811
237
P MYP004 Myopathy 67 0.811
238
OCL006 Ocular Hypertension 53 0.811
239
CNG608 Congenital Hypopituitarism 29 0.811
240
MLT084 Multicystic Dysplastic Kidney 42 0.811
241
IRN008 Iron Overload in Africa 50 0.797
242
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.797
243
RJS001 Ruijs-Aalfs Syndrome 47 0.797
244
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.797
245
ADL096 Adult Hepatocellular Carcinoma 60 0.797
246
HPT079 Hepatoid Adenocarcinoma 39 0.797
247
PDT042 Pediatric Hepatocellular Carcinoma 51 0.797
248
P LNG021 Lung Occult Small Cell Carcinoma 20 0.797
249
LNG019 Lung Combined Type Small Cell Carcinoma 34 0.797
250
FBR086 Fibrolamellar Carcinoma 59 0.797
251
HPT011 Hepatocellular Clear Cell Carcinoma 46 0.797
252
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.797
253
PTY007 Pityriasis Rotunda 27 0.797
254
FBR054 Fibroma 44 0.790
255
SCK003 Sickle Cell Anemia 74 0.790
256
P KLN006 Koolen-De Vries Syndrome 51 0.790
257
c BTT014 Beta-Thalassemia 72 0.790
258
PNC001 Pancytopenia 52 0.790
259
P ART005 Arteriovenous Malformation 64 0.790
260
ODN005 Odontogenic Myxoma 32 0.790
261
GRW007 Growth Hormone Deficiency 47 0.790
262
SYN112 Syndromic Microphthalmia-Anophthalmia-Coloboma 13 0.790
263
AMG001 Amegakaryocytic Thrombocytopenia, Congenital 55 0.767
264
P PTS002 Ptosis 52 0.767
265
CHR072 Chordoma 56 0.767
266
CRC014 Carcinoid Tumors, Intestinal 46 0.767
267
AST006 Astigmatism 46 0.767
268
AGN016 Aging 53 0.767
269
c HMC039 Hemochromatosis, Type 1 73 0.767
270
c EXS019 Exostoses, Multiple, Type I 54 0.767
271
DNT006 Dental Pulp Necrosis 43 0.767
272
P THR014 Thrombocytopenia 66 0.767
273
ISL075 Isolated Pierre Robin Sequence 29 0.767
274
SPL018 Splenomegaly 47 0.767
275
CHN065 Choanal Atresia, Posterior 48 0.742
276
GST092 Gastroesophageal Reflux 59 0.742
277
TND004 Tendinopathy 45 0.742
278
TND005 Tendinitis 53 0.742
279
CHR615 Chromosome 19q13.11 Deletion Syndrome, Proximal 13 0.742
280
CHR103 Charge Syndrome 65 0.742
281
SPN369 Spinal Disease 43 0.742
282
P AML002 Amelogenesis Imperfecta 56 0.742
283
CNN005 Connective Tissue Disease 66 0.742
284
BRN056 Bronchopulmonary Dysplasia 57 0.742
285
P SPN237 Spina Bifida Aperta 19 0.742
286
ACH004 Achondroplasia 65 0.713
287
P SCL057 Scoliosis, Isolated 1 40 0.713
288
FRS007 Frias Syndrome 28 0.713
289
ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 35 0.713
290
HYP748 Hypertelorism 46 0.713
291
AML029 Ameloblastoma 46 0.713
292
P ECT006 Ectodermal Dysplasia 62 0.713
293
BLD130 Bladder Exstrophy 44 0.713
294
47X002 47,xyy 47 0.713
295
ORL011 Oral Cancer 60 0.713
296
DWR001 Dwarfism 44 0.713
297
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 53 0.679
298
P PRR016 Pierre Robin Syndrome 50 0.679
299
P PTN014 Patent Ductus Arteriosus 1 59 0.679
300
P MYS005 Myositis 55 0.679
301
BLD170 Bladder Exstrophy and Epispadias Complex 43 0.679
302
CLR108 Colorectal Adenoma 63 0.679
303
P ART021 Arteriosclerosis 53 0.679
304
NRL005 Neurilemmoma 60 0.679
305
P TCD001 Tic Disorder 50 0.679
306
P FBR017 Fibrosarcoma 55 0.679
307
P SMP003 Simpson-Golabi-Behmel Syndrome 49 0.679
308
P HYP658 Hypoplastic Amelogenesis Imperfecta 29 0.679
309
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.634
310
c HYP836 Hypercholesterolemia, Familial, 1 73 0.634
311
GST010 Gestational Trophoblastic Neoplasm 52 0.634
312
CRN027 Corneal Neovascularization 47 0.634
313
SFT003 Soft Tissue Sarcoma 43 0.634
314
P BND020 Bone Disease 60 0.587
315
DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 55 0.527
316
c DVL103 Developmental and Epileptic Encephalopathy 80 30 0.527
317
AGN012 Agnathia-Otocephaly Complex 52 0.527
319
SPN186 Spinal Cord Injury 60 0.514
320
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.502
321
P CRN037 Craniosynostosis 67 0.491
322
c PRG020 Paragangliomas 3 39 0.442
323
P SCL048 Sclerosteosis 58 0.429
324
CNG034 Congestive Heart Failure 69 0.415
325
END086 End Stage Renal Disease 54 0.386
326
HRT015 Heritable Pulmonary Arterial Hypertension 46 0.386
327
KHN001 Kuhnt-Junius Degeneration 48 0.371
328
c DLT002 Dilated Cardiomyopathy 79 0.371
329
c TYP008 Type 1 Diabetes Mellitus 77 0.355
330
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52 0.355
331
OST003 Osteonecrosis 60 0.355
332
OST012 Osteoarthritis 77 0.355
333
SRC027 Sarcoma, Synovial 58 0.339
334
P CRB188 Cerebral Arteriopathy, Autosomal Recessive, with Subcortical Infarcts and Leukoencephalopathy 38 0.339
335
ESP021 Esophageal Cancer 84 0.339
336
P RSP003 Respiratory Failure 73 0.339
337
ALV005 Alveolar Soft Part Sarcoma 61 0.321
338
TTH030 Teeth, Supernumerary 32 0.321
339
P MLT020 Multiple Sclerosis 79 0.321
340
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.321
341
P PTT006 Pituitary Adenoma 55 0.321
342
TRT001 Teratocarcinoma 41 0.321
343
CRT013 Carotid Stenosis 51 0.321
344
ART010 Arteriolosclerosis 37 0.321
345
P ALP008 Alopecia 53 0.321
346
P VTR007 Vitreoretinopathy 45 0.321
347
P CLC063 Celiac Disease 1 65 0.303
348
c NPH055 Nephrotic Syndrome, Type 1 52 0.303
349
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.303
350
c HPT001 Hepatitis C 61 0.303
351
CNS004 Constipation 56 0.303
352
CRB004 Cerebral Artery Occlusion 45 0.303
353
P ACT010 Acth-Secreting Pituitary Adenoma 60 0.303
354
SRN002 Sirenomelia 28 0.303
355
P RHM011 Rheumatoid Arthritis 81 0.283
356
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.283
357
CMB007 Combined Immunodeficiency 56 0.283
358
ALL014 Allergic Encephalomyelitis 34 0.283
359
c WLM013 Wilms Tumor 1 65 0.262
360
HYP025 Hyperphosphatemia 47 0.262
361
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.262
362
HLC007 Helicobacter Pylori Infection 67 0.262
363
PGM003 Pigmentation Disease 45 0.262
364
HMS001 Hemosiderosis 48 0.262
365
BRN004 Brain Edema 54 0.262
366
P LTR001 Lateral Sclerosis 57 0.262
367
P OVR049 Ovarian Disease 50 0.262
368
ESP020 Esophageal Atresia 59 0.262
369
P RRH023 Rare Hereditary Hemochromatosis 52 0.262
370
IDP092 Idiopathic/heritable Pulmonary Arterial Hypertension 44 0.262
371
P CLD001 Cleidocranial Dysplasia 64 0.240
372
c BRN108 Branchiootic Syndrome 1 63 0.240
373
P FML011 Familial Adenomatous Polyposis 70 0.240
374
c ART101 Aortic Valve Disease 2 65 0.240
375
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.240
376
P GLM040 Glioma Susceptibility 1 70 0.240
377
P PRK039 Parkinsonism 55 0.240
378
HYP080 Hypogonadism 49 0.240
379
SPN035 Spindle Cell Sarcoma 51 0.240
380
TST014 Testicular Cancer 51 0.240
381
SRC014 Sarcoma 64 0.240
382
P MSC003 Muscular Atrophy 52 0.240
383
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 20 0.240
384
P RNL123 Renal Agenesis, Bilateral 37 0.240
385
MYL020 Myelomeningocele 51 0.214
386
APR006 Apert Syndrome 69 0.214
387
WLF002 Wolf-Hirschhorn Syndrome 57 0.214
388
c SPN225 Spondyloarthropathy 1 70 0.214
389
INS024 Insulin-Like Growth Factor I 77 0.214
390
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.214
391
EWN003 Ewing Sarcoma 69 0.214
392
MSC007 Muscle Hypertrophy 64 0.214
393
P STS008 Sotos Syndrome 1 62 0.214
394
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.214
396
ATM095 Autoimmune Disease 61 0.214
397
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 52 0.214
398
P ORT004 Orthostatic Intolerance 61 0.214
399
MCS002 Mucositis 55 0.214
400
P RCT021 Rectum Cancer 54 0.214
401
CRB037 Cerebral Palsy 66 0.214
402
P HYP730 Hypogonadotropic Hypogonadism 57 0.214
403
c HMC009 Hemochromatosis Type 2 58 0.214
404
CNT033 Central Nervous System Cancer 47 0.214
405
SPN051 Spondylitis 51 0.214
406
MTR002 Mitral Valve Insufficiency 51 0.214
407
RNL025 Renal Hypoplasia 46 0.214
408
CRN036 Craniopharyngioma 63 0.214
409
P MCR010 Microcephaly 59 0.214
410
INF009 Inflammatory Spondylopathy 30 0.214
411
CHR074 Choriocarcinoma 46 0.214
412
c JVN010 Juvenile Rheumatoid Arthritis 52 0.214
413
P INS002 in Situ Carcinoma 52 0.214
414
P SCK005 Sickle Cell Disease 56 0.214
415
STS002 Situs Inversus 44 0.214
416
c CHR684 Chronic Kidney Disease 73 0.214
417
P ENC008 Encephalocele 46 0.214
418
P AVS003 Avascular Necrosis 41 0.214
419
TRC052 Trichofolliculoma 18 0.214
420
c ATS007 Autism Spectrum Disorder 71 0.186
421
AND014 Androgenic Alopecia 46 0.186
422
UVL009 Uvula, Bifid 28 0.186
423
c SYS001 Systemic Lupus Erythematosus 85 0.186
424
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68 0.186
425
P MDL005 Medulloblastoma 75 0.186
426
OPT070 Optic Nerve Hypoplasia, Bilateral 55 0.186
427
MCK005 Mckusick-Kaufman Syndrome 61 0.186
428
P ALP061 Alopecia, Androgenetic, 1 48 0.186
429
P PSD087 Pseudoxanthoma Elasticum 66 0.186
430
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61 0.186
431
P SPP010 Suppressor of Tumorigenicity 3 50 0.186
432
ANN002 Anencephaly 57 0.186
433
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 68 0.186
434
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.186
435
CHL065 Cholangiocarcinoma 57 0.186
436
PMP006 Pemphigus Vulgaris, Familial 57 0.186
437
c SPL067 Split-Hand/foot Malformation 1 46 0.186
438
c TTH012 Tooth Agenesis, Selective, 3 25 0.186
439
ADR040 Adrenal Gland Pheochromocytoma 45 0.186
440
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.186
441
DNT012 Dental Caries 53 0.186
442
P OST001 Osteopetrosis 70 0.186
443
CHL068 Cholestasis 61 0.186
444
c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24 0.186
445
P EYD002 Eye Disease 57 0.186
446
LPD008 Lipid Metabolism Disorder 61 0.186
447
PRP016 Paraplegia 52 0.186
448
P END044 Endometriosis 62 0.186
449
NRM005 Neuromuscular Disease 62 0.186
450
P PLM036 Pulmonary Fibrosis 65 0.186
451
PPL009 Papillary Craniopharyngioma 29 0.186
452
INT079 Intrahepatic Cholangiocarcinoma 51 0.186
453
NNT004 Neonatal Respiratory Failure 36 0.186
454
P NRF002 Neurofibromatosis 60 0.186
455
P PMP001 Pemphigus 54 0.186
456
KLD004 Keloid Disorder 38 0.186
457
P RTN016 Retinal Degeneration 52 0.186
458
P LPS004 Lupus Erythematosus 61 0.186
459
RTN123 Retinochoroidal Coloboma 19 0.186
460
PRT049 Partial Deletion of Y 33 0.186
461
MD2001 Med23 19 0.186
462
FCL090 Facial Cleft 32 0.186
463
ISL121 Isolated Split Hand-Split Foot Malformation 42 0.186
464
PRM334 Primary Bone Dysplasia with Increased Bone Density 15 0.186
465
OST115 Osteonecrosis of the Jaw 40 0.186
466
CLT003 Colitis 63 0.152
467
c BRN128 Branchiootic Syndrome 3 27 0.152
468
P BRN042 Branchiootic Syndrome 34 0.152
469
P ATS364 Autism 72 0.152
470
LRW001 Leri-Weill Dyschondrosteosis 43 0.152
471
DMN031 Dementia, Lewy Body 65 0.152
472
c SCL052 Scleroderma, Familial Progressive 60 0.152
473
c MCR263 Microphthalmia, Syndromic 1 49 0.152
474
P CRB154 Cerebrocostomandibular Syndrome 55 0.152
475
P FRN036 Frontonasal Dysplasia 1 43 0.152
476
ATS010 Autosomal Recessive Disease 42 0.152
477
c ORF047 Orofacial Cleft 15 24 0.152
478
ECT070 Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 62 0.152
479
P UTR058 Uterine Anomalies 47 0.152
480
LNG040 Langer Mesomelic Dysplasia 36 0.152
482
JVN004 Juvenile Myelomonocytic Leukemia 66 0.152
483
c ATR087 Atrial Standstill 1 74 0.152
484
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.152
485
c NPH049 Nephrotic Syndrome, Type 2 49 0.152
486
c PRM212 Primary Microcephaly 40 0.152
487
OBS082 Obstructive Nephropathy 41 0.152
488
MGC001 Megacolon 48 0.152
489
DPH001 Diphtheria 59 0.152
490
P PRS049 Persistent Mullerian Duct Syndrome 51 0.152
491
P GCH001 Gaucher's Disease 69 0.152
492
P LMY004 Leiomyosarcoma 62 0.152
493
P SPN046 Spinal Muscular Atrophy 62 0.152
494
URT010 Ureteral Obstruction 44 0.152
495
IRN002 Iron Metabolism Disease 56 0.152
496
RTR008 Root Resorption 44 0.152
497
P CRN025 Corneal Dystrophy 49 0.152
498
c HPT016 Hepatitis B 62 0.152
499
P ART023 Arthropathy 59 0.152
500
ANV001 Anovulation 46 0.152
501
SYN005 Synostosis 43 0.152
502
P EMR001 Emery-Dreifuss Muscular Dystrophy 62 0.152
503
LMY002 Leiomyoma 51 0.152
504
VGN020 Vaginal Disease 49 0.152
505
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.152
506
P RTN018 Retinal Disease 53 0.152
507
P KLL001 Kallmann Syndrome 65 0.152
508
CLR003 Clear Cell Adenocarcinoma 49 0.152
509
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.152
510
LNG099 Lung Disease 62 0.152
512
P HMP007 Hemophilia 52 0.152
513
PLG004 Plagiocephaly 40 0.152
514
CHR178 Chromosomal Triplication 33 0.152
515
HTR025 Htra1 Disorder 11 0.152
516
CNT108 Central Polydactyly 14 0.152
517
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.152
518
ISL109 Isolated Cleft Lip 33 0.152
519
FML211 Familial Papillary or Follicular Thyroid Carcinoma 25 0.152
520
EST002 Estrogen-Receptor Negative Breast Cancer 45 0.107
521
CRT006 Cartilage Cancer 20 0.107
522
P RBN002 Robinow Syndrome 56 0.107
523
ACT119 Acute Promyelocytic Leukemia 62 0.107
524
c TTH025 Tooth Agenesis, Selective, 9 18 0.107
525
P ATR011 Atrial Fibrillation 66 0.107
526
P MLT072 Multiple Synostoses Syndrome 45 0.107
527
RNL077 Renal Fibrosis 46 0.107
528
P LYM118 Lymphoma 66 0.107
529
CHM005 Chemical Colitis 34 0.107
530
SNT005 Sinoatrial Node Disease 48 0.107
531
P TWN003 Townes-Brocks Syndrome 55 0.107
532
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.107
533
c CNG513 Congenital Ptosis 43 0.107
534
P INF037 Inflammatory Bowel Disease 53 0.107
535
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.107
536
c LNG044 Long Qt Syndrome 1 66 0.107
537
c MCR241 Microphthalmia, Syndromic 3 56 0.107
538
c FRS014 Fraser Syndrome 1 56 0.107
539
WLL001 Williams-Beuren Syndrome 60 0.107
540
ANS023 Anus, Imperforate 56 0.107
541
CYS044 Cystic Disease of Lung 19 0.107
542
PRN011 Pernicious Anemia 52 0.107
543
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 63 0.107
544
OTT002 Otitis Media 70 0.107
545
P CRN231 Corneal Dystrophy, Posterior Polymorphous, 1 46 0.107
546
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63 0.107
547
MCC012 Mccune-Albright Syndrome 69 0.107
548
P ART028 Aortic Aneurysm, Familial Thoracic 4 61 0.107
549
HND015 Hand Skill, Relative 29 0.107
550
P HRS035 Hirschsprung Disease 1 66 0.107
551
CRD223 Cardiac Arrhythmia 63 0.107
552
ANK020 Ankyloglossia with or Without Tooth Anomalies 45 0.107
553
P MCH002 Machado-Joseph Disease 62 0.107
554
BSL036 Basal Cell Nevus Syndrome 73 0.107
555
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56 0.107
556
ABR009 Abruzzo-Erickson Syndrome 45 0.107
557
OPT054 Opitz-Kaveggia Syndrome 52 0.107
558
DST033 Distichiasis 35 0.107
559
TRD003 Taurodontism 29 0.107
560
c MCR261 Microphthalmia, Syndromic 2 50 0.107
561
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.107
562
PRP027 Peripheral Vascular Disease 71 0.107
563
c CNG006 Congenital Hypothyroidism 63 0.107
564
P BRC006 Brachydactyly 52 0.107
565
c PRM032 Primary Congenital Glaucoma 40 0.107
566
P SHR126 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies 2 24 0.107
567
c 46X055 46,xy Sex Reversal 3 40 0.107
568
DNR002 Duane-Radial Ray Syndrome 53 0.107
569
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.107
570
P LYS001 Loeys-Dietz Syndrome 65 0.107
572
PLY001 Polycythemia Vera 69 0.107
573
c THY107 Thymoma, Familial 42 0.107
574
OGD001 Ogden Syndrome 41 0.107
575
P ATX030 Ataxia-Telangiectasia 80 0.107
576
P JBR020 Joubert Syndrome 1 74 0.107
577
DDN011 Duodenal Atresia 47 0.107
578
c CRP023 Carpenter Syndrome 1 59 0.107
579
c CRD176 Cardiomyopathy, Familial Restrictive, 1 42 0.107
580
c MLT059 Multiple Synostoses Syndrome 1 32 0.107
581
TRS002 Tarsal-Carpal Coalition Syndrome 44 0.107
582
GRG001 Greig Cephalopolysyndactyly Syndrome 64 0.107
583
P HYP058 Hypervitaminosis a 47 0.107
584
SCH016 Schimke Immunoosseous Dysplasia 53 0.107
585
MGL003 Megalocornea 47 0.107
586
MYL005 Myelofibrosis 70 0.107
587
P MYM013 Moyamoya Disease 1 59 0.107
588
SMT004 Smith-Lemli-Opitz Syndrome 69 0.107
589
P FRG001 Fragile X Syndrome 70 0.107
590
FRN006 Frontotemporal Dementia 68 0.107
591
c NRP039 Neuropathy, Hereditary Sensory, Type Id 41 0.107
592
P MYC007 Myocardial Infarction 69 0.107
593
c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 35 0.107
594
P GRF003 Graft-Versus-Host Disease 71 0.107
595
MCR354 Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures 31 0.107
596
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 0.107
597
c PCH010 Pachyonychia Congenita 3 43 0.107
598
c MCR252 Microphthalmia, Syndromic 5 38 0.107
599
P OCL013 Oculodentodigital Dysplasia 66 0.107
600
CHR101 Char Syndrome 52 0.107
601
EPC005 Epicanthus 35 0.107
602
LYM029 Lymphedema-Distichiasis Syndrome 52 0.107
603
c FNC043 Fanconi Anemia, Complementation Group E 62 0.107
604
c MCR256 Microphthalmia, Syndromic 9 60 0.107
605
P FNC044 Fanconi Anemia, Complementation Group C 56 0.107
606
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.107
607
c LNG109 Lung Cancer Susceptibility 1 26 0.107
608
c HLP022 Holoprosencephaly 8 23 0.107
609
c SPR118 Spermatogenic Failure 1 36 0.107
610
CRV035 Cervical Cancer 72 0.107
611
END057 Endometrial Cancer 76 0.107
612
c CLR083 Colorectal Cancer 8 20 0.107
613
c CLR084 Colorectal Cancer 9 15 0.107
614
c CLR077 Colorectal Cancer 10 32 0.107
615
c CLR078 Colorectal Cancer 11 15 0.107
616
P FTL001 Fetal Alcohol Syndrome 55 0.107
617
FBR009 Fibrous Dysplasia 48 0.107
618
DFF005 Diffuse Large B-Cell Lymphoma 55 0.107
619
c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 44 0.107
620
c HRD202 Hereditary Lymphedema I 54 0.107
621
P CRN024 Corneal Disease 43 0.107
622
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 53 0.107
623
P NPH012 Nephrotic Syndrome 61 0.107
624
BLP004 Blepharophimosis 36 0.107
625
P RNV001 Renovascular Hypertension 48 0.107
626
P HYP069 Hyperparathyroidism 62 0.107
627
P ESS003 Essential Thrombocythemia 68 0.107
628
MYL031 Myeloproliferative Neoplasm 66 0.107
629
P THY023 Thymoma 64 0.107
630
BRN012 Bronchiolitis Obliterans 56 0.107
631
P LNG028 Long Qt Syndrome 63 0.107
632
c HRD010 Hereditary Spastic Paraplegia 65 0.107
633
PPL022 Papilloma 53 0.107
634
BCT002 Bacterial Vaginosis 52 0.107
635
P HRD001 Hereditary Multiple Exostoses 48 0.107
636
P SCK002 Sick Sinus Syndrome 55 0.107
637
CRN022 Corneal Degeneration 33 0.107
638
NRN004 Neuroendocrine Tumor 55 0.107
639
CLN044 Colon Adenoma 44 0.107
640
P ECL001 Eclampsia 52 0.107
641
P HYP087 Hypotrichosis 41 0.107
642
MYL075 Myelodysplastic/myeloproliferative Neoplasm 51 0.107
643
TRC005 Tracheal Stenosis 43 0.107
644
PTT009 Pituitary Gland Disease 52 0.107
645
P DYS154 Dystonia 64 0.107
646
P MTR014 Motor Neuron Disease 65 0.107
647
P CND004 Candidiasis 57 0.107
648
IRN001 Iron Deficiency Anemia 58 0.107
649
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.107
650
P URN019 Urinary Tract Infection 48 0.107
651
SQM002 Squamous Cell Papilloma 45 0.107
652
BRN002 Bronchiolitis 57 0.107
653
P KDN017 Kidney Cancer 60 0.107
654
EXS001 Exostosis 49 0.107
655
PLC005 Placental Insufficiency 55 0.107
656
P GST044 Gastritis 55 0.107
657
DDN004 Duodenogastric Reflux 31 0.107
658
c SCN007 Secondary Hyperparathyroidism 50 0.107
659
LYS002 Lysosomal Storage Disease 51 0.107
660
ART016 Aortic Aneurysm 68 0.107
661
URM002 Uremia 47 0.107
662
P DNT011 Dentinogenesis Imperfecta 51 0.107
663
P GRV001 Graves' Disease 54 0.107
664
RCK004 Rickets 64 0.107
665
P RNL015 Renal Hypertension 45 0.107
666
P FCL005 Focal Segmental Glomerulosclerosis 57 0.107
667
MCR011 Microinvasive Gastric Cancer 41 0.107
668
CRT017 Cartilage Disease 52 0.107
669
PPT001 Peptic Esophagitis 51 0.107
670
PRM024 Primary Angle-Closure Glaucoma 38 0.107
671
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.107
672
P KRT007 Keratoconus 49 0.107
673
TLN003 Telangiectasis 51 0.107
674
P SLP005 Sleep Disorder 61 0.107
675
MLG077 Malignant Peripheral Nerve Sheath Tumor 53 0.107
676
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.107
677
OVR059 Ovary Adenocarcinoma 49 0.107
678
GST040 Gastric Adenocarcinoma 66 0.107
679
SKN016 Skin Disease 63 0.107
680
CRB039 Cerebrovascular Disease 65 0.107
681
OCL010 Ocular Hypotension 37 0.107
682
DSM007 Desmoplastic Small Round Cell Tumor 54 0.107
683
P CMP008 Compartment Syndrome 49 0.107
684
PLY024 Polymicrogyria 48 0.107
685
c 46X011 46, Xy Disorders of Sexual Development 20 0.107
686
P ATR005 Atrophic Gastritis 50 0.107
687
P PLY018 Polycythemia 56 0.107
688
HRP004 Herpes Zoster 60 0.107
689
PLY012 Polyhydramnios 46 0.107
690
CHC001 Chickenpox 56 0.107
691
HRD104 Hereditary Multiple Osteochondromas 43 0.107
692
P SPS012 Spastic Paraplegia 3a 33 0.107
693
1Q2003 1q21.1 Recurrent Microdeletion 21 0.107
694
P HYP076 Hyperthyroidism 53 0.107
695
c CNG216 Congenital Hydrocephalus 50 0.107
696
FBR019 Fibromatosis 44 0.107
697
HYP572 Hypoganglionosis 28 0.107
698
LMB009 Lambdoid Synostosis 19 0.107
699
ANR040 Aneurysm 60 0.107
700
c SPS036 Spastic Paraplegia 3 32 0.107
701
PTT041 Pituitary Stalk Interruption Syndrome 54 0.107
702
RFR003 Refractive Error 41 0.107
703
PNS014 Penis Agenesis 38 0.107
704
LJN002 Lujan Syndrome 20 0.107
705
GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 17 0.107
706
TRM010 Traumatic Brain Injury 50 0.107
707
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 42 0.107
708
TRC037 Tracheobronchomalacia 24 0.107
709
c MNS014 Monosomy 22 34 0.107
710
P PLY188 Polyendocrinopathy 29 0.107
711
EXN003 Exencephaly 30 0.107
712
P FML364 Familial Thoracic Aortic Aneurysm and Aortic Dissection 70 0.107
713
FTL029 Fetal Thalidomide Syndrome 27 0.107
714
LMB014 Limb-Body Wall Complex 30 0.107
715
IMM204 Immuno-Osseous Dysplasia 20 0.107
716
PST092 Posttransplant Acute Limbic Encephalitis 29 0.107
717
OCC011 Occipital Encephalocele 27 0.107
718
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 44 0.107
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