Search results for tcf4

511 hits were found for tcf4

# Family MCID Name MIFTS Score
1
P PTT014 Pitt-Hopkins Syndrome 63 78.640
2
FCH001 Fuchs' Endothelial Dystrophy 48 33.482
3
c CRN120 Corneal Dystrophy, Fuchs Endothelial, 3 27 32.006
4
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 25.848
5
P MCR010 Microcephaly 59 24.045
6
P CLR023 Colorectal Cancer 100 23.372
7
P CRN025 Corneal Dystrophy 49 21.654
8
DSS008 Disease of Mental Health 74 21.069
9
P HPT023 Hepatocellular Carcinoma 95 17.708
10
EPC005 Epicanthus 36 16.421
11
c CHL119 Cholangitis, Primary Sclerosing 57 16.098
12
P SCH015 Schizophrenia 74 15.573
13
P ANG001 Angelman Syndrome 65 11.875
14
P ATS364 Autism 72 11.673
15
P NNS031 Non-Syndromic Intellectual Disability 32 11.631
16
P RTT002 Rett Syndrome 79 11.194
17
P EYD002 Eye Disease 57 10.935
18
CNS004 Constipation 56 10.725
19
P SYN057 Syndromic Intellectual Disability 37 8.680
20
BLS007 Blastic Plasmacytoid Dendritic Cell 37 8.463
21
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 45 7.799
22
c DFN036 Deafness, X-Linked 2 44 7.126
23
EPD014 Epididymis Adenocarcinoma 29 7.126
24
SBG006 Subglottis Benign Neoplasm 28 7.126
25
c EXD012 Exudative Vitreoretinopathy 7 36 7.126
26
EPD017 Epididymis Cancer 28 7.126
27
DNC002 Diencephalic Neoplasm 24 7.126
28
c TYP032 Type 1 Diabetes Mellitus 6 21 7.126
29
DNC009 Diencephalic Astrocytoma 23 7.126
30
INT041 Intratubular Embryonal Carcinoma 26 7.126
31
HLX001 Helix Syndrome 47 5.268
32
END057 Endometrial Cancer 71 3.826
33
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 3.820
34
SKN022 Skin Squamous Cell Carcinoma 54 3.820
35
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 3.820
36
MLN065 Melanocytic Nevus Syndrome, Congenital 61 3.627
37
GLM045 Glioma 62 3.626
38
P LNG032 Lung Cancer 98 3.489
39
P PRS040 Prostate Cancer 95 3.470
40
P LNG064 Lung Cancer Susceptibility 3 70 3.208
41
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 3.104
42
P FML011 Familial Adenomatous Polyposis 71 2.675
43
P TMR010 Tumor Predisposition Syndrome 69 2.666
44
LNG039 Lung Squamous Cell Carcinoma 57 2.614
45
P GST053 Gastric Cancer 82 2.442
46
P BRS047 Breast Cancer 97 2.307
47
c GLM043 Glioma Susceptibility 9 30 2.267
48
c GLM047 Glioma Susceptibility 3 32 2.267
49
c GLM025 Glioma Susceptibility 2 29 2.267
50
P GLM040 Glioma Susceptibility 1 70 2.267
51
MNN043 Meningioma, Familial 79 2.267
52
SKN019 Skin Melanoma 70 2.267
53
c LKM061 Leukemia, Acute Myeloid 83 2.216
54
c ATS007 Autism Spectrum Disorder 72 2.086
55
OST012 Osteoarthritis 77 2.060
56
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.901
57
GST040 Gastric Adenocarcinoma 66 1.901
58
IRN008 Iron Overload in Africa 51 1.785
59
RJS001 Ruijs-Aalfs Syndrome 47 1.785
60
ADN011 Adenoid Cystic Carcinoma 68 1.785
61
BLD173 Bladder Small Cell Carcinoma 44 1.785
62
HPT079 Hepatoid Adenocarcinoma 39 1.785
63
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 1.785
64
c HPT073 Hepatitis C Virus 71 1.785
65
ADL096 Adult Hepatocellular Carcinoma 60 1.785
66
ADN089 Adenosquamous Lung Carcinoma 49 1.785
67
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 1.785
68
PDT042 Pediatric Hepatocellular Carcinoma 50 1.785
69
PTY007 Pityriasis Rotunda 26 1.785
70
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 1.785
71
FBR086 Fibrolamellar Carcinoma 59 1.785
72
HPT011 Hepatocellular Clear Cell Carcinoma 45 1.785
73
P OLG002 Oligodendroglioma 66 1.739
74
SQM006 Squamous Cell Carcinoma 59 1.701
75
P CRN233 Corneal Dystrophy, Fuchs Endothelial, 1 36 1.673
76
ESP021 Esophageal Cancer 84 1.638
77
ESP020 Esophageal Atresia 60 1.612
78
CRV035 Cervical Cancer 72 1.591
79
P LKM002 Leukemia 66 1.579
80
OCL069 Ocular Motor Apraxia 57 1.495
81
PYL006 Pyloric Stenosis 48 1.495
82
OCL015 Oculomotor Apraxia 39 1.495
83
ADN018 Adenoma 58 1.481
84
P OVR042 Ovarian Cancer 88 1.405
85
P MLN008 Melanoma 75 1.389
86
GLL048 Glial Tumor 52 1.359
87
c MJR024 Major Affective Disorder 9 40 1.341
88
c MJR022 Major Affective Disorder 8 37 1.341
89
P BPL003 Bipolar Disorder 56 1.341
90
CLN015 Colon Adenocarcinoma 64 1.337
91
DND018 Dendritic Cell Tumor 41 1.337
92
P SCL009 Sclerosing Cholangitis 46 1.323
93
P CHL066 Cholangitis 51 1.323
94
P MDL005 Medulloblastoma 75 1.309
95
P NRB001 Neuroblastoma 66 1.309
96
P MYL006 Myeloid Leukemia 60 1.294
97
c PRG020 Paragangliomas 3 39 1.263
98
P ADN016 Adenocarcinoma 63 1.212
99
P CRN026 Corneal Edema 42 1.212
100
GLB002 Glioblastoma 67 1.142
101
c CRN147 Corneal Dystrophy, Fuchs Endothelial, 6 23 1.104
102
MNT002 Mental Depression 56 1.090
103
THY029 Thyroid Carcinoma 54 1.090
104
c ATR087 Atrial Standstill 1 74 1.076
105
MYL009 Myelodysplastic Syndrome 67 1.076
106
P KDN017 Kidney Cancer 60 1.062
107
P SKN015 Skin Carcinoma 71 1.032
108
PSY004 Psychotic Disorder 66 1.032
109
MWT001 Mowat-Wilson Syndrome 57 1.016
110
HGH043 High Grade Glioma 46 1.016
111
c SML038 Small Cell Cancer of the Lung 69 0.999
112
P HYP265 Hypotonia 42 0.982
113
48X005 48,xyyy 39 0.982
114
P PNC035 Pancreatic Cancer 86 0.972
115
P LYN001 Lynch Syndrome 76 0.964
116
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.964
117
P BCL017 B-Cell Lymphoma 57 0.964
118
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.945
119
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.945
120
P LYM118 Lymphoma 69 0.945
121
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.945
122
c DPH024 Diaphragmatic Hernia, Congenital 64 0.945
123
DFF005 Diffuse Large B-Cell Lymphoma 55 0.926
124
P BND020 Bone Disease 60 0.926
125
OVR094 Ovarian Epithelial Cancer 39 0.926
126
ULC004 Ulcerative Colitis 74 0.926
127
P LKM062 Leukemia, Acute Lymphoblastic 69 0.904
128
OPT003 Opiate Dependence 49 0.904
129
P RCT021 Rectum Cancer 54 0.904
130
RCK004 Rickets 65 0.881
131
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.881
132
OST159 Osteogenic Sarcoma 66 0.881
133
P SZR006 Seizure Disorder 69 0.881
134
INH023 Inherited Cancer-Predisposing Syndrome 53 0.881
135
RNL078 Renal Dysplasia 46 0.881
136
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 0.881
137
P OST002 Osteoporosis 77 0.857
138
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.857
139
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.857
140
c FML346 Familial Adenomatous Polyposis 1 65 0.857
141
P SBS003 Substance Abuse 54 0.857
142
APC006 Apc-Associated Polyposis Conditions 22 0.857
143
P ADL017 Adult T-Cell Leukemia 54 0.829
144
INT029 Interleukin-7 Receptor Alpha Deficiency 28 0.829
145
ORL015 Oral Squamous Cell Carcinoma 43 0.829
146
P HRS035 Hirschsprung Disease 1 66 0.829
147
CYN002 Cyanosis, Transient Neonatal 43 0.829
148
P EPL164 Epilepsy 70 0.829
149
CLT003 Colitis 63 0.829
150
c ACT073 Acute Leukemia 59 0.829
151
P ENC018 Encephalopathy 62 0.829
152
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.829
153
CPM001 Cap Myopathy 44 0.829
154
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 0.829
155
c LKM005 Leukemia, T-Cell, Chronic 33 0.829
156
ALV005 Alveolar Soft Part Sarcoma 61 0.798
157
P CRN024 Corneal Disease 43 0.798
158
TNG009 Tongue Squamous Cell Carcinoma 43 0.798
159
P CTR002 Cataract 59 0.798
160
CLR030 Clear Cell Renal Cell Carcinoma 54 0.798
161
P RTN024 Retinoblastoma 72 0.761
162
c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 23 0.761
163
c CRN121 Corneal Dystrophy, Fuchs Endothelial, 5 14 0.761
164
c CRN218 Corneal Dystrophy, Fuchs Endothelial, 8 19 0.761
165
RNL051 Renal Cysts and Diabetes Syndrome 57 0.761
166
VCC001 Vaccinia 49 0.761
167
ATN005 Autonomic Dysfunction 45 0.761
168
MYL069 Myeloma, Multiple 77 0.748
169
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.713
170
KPS004 Kaposi Sarcoma 76 0.713
171
P OPN001 Open-Angle Glaucoma 55 0.597
172
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.597
173
c GLC092 Glaucoma, Primary Open Angle 61 0.597
174
P ALP008 Alopecia 53 0.597
175
P ALP009 Alopecia Areata 59 0.597
176
P MYT002 Myotonic Dystrophy 51 0.520
177
BLL004 Bullous Keratopathy 47 0.479
178
KRT008 Keratopathy 46 0.479
179
P NSP012 Nasopharyngeal Carcinoma 60 0.465
180
PLM021 Pilomyxoid Astrocytoma 42 0.441
181
P MYP006 Myopia 55 0.435
182
TRM010 Traumatic Brain Injury 50 0.419
183
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.403
184
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.385
185
CLN044 Colon Adenoma 44 0.385
186
P MJR001 Major Depressive Disorder 68 0.385
187
ALL029 Allergic Disease 61 0.385
188
DPR016 Depression 65 0.385
189
P INF037 Inflammatory Bowel Disease 53 0.368
190
CRH001 Crohn's Disease 80 0.368
191
CLR109 Colorectal Adenocarcinoma 50 0.349
192
CHR382 Chromosome 18q Deletion Syndrome 40 0.349
193
P CHR345 Chronic Pain 50 0.349
194
IQS001 Iqsec2 19 0.349
195
P BLD134 Bladder Cancer 79 0.307
196
LMB062 Limb Ischemia 55 0.307
197
P MSC005 Muscular Dystrophy 66 0.307
198
CLR108 Colorectal Adenoma 63 0.285
199
CHR074 Choriocarcinoma 46 0.285
200
MSC157 Muscular Dystrophy, Duchenne Type 79 0.285
201
P GST044 Gastritis 55 0.285
202
UND011 Undetermined Early-Onset Epileptic Encephalopathy 46 0.285
203
P ATR005 Atrophic Gastritis 50 0.285
204
P ALZ034 Alzheimer Disease 87 0.260
205
c TYP009 Type 2 Diabetes Mellitus 92 0.260
206
HLC007 Helicobacter Pylori Infection 67 0.260
207
P SPP010 Suppressor of Tumorigenicity 3 51 0.260
208
c PCH010 Pachyonychia Congenita 3 43 0.260
209
P SCL018 Scoliosis 57 0.260
210
CHL065 Cholangiocarcinoma 58 0.260
211
P STR020 Strabismus 56 0.260
212
P NNS032 Non-Syndromic X-Linked Intellectual Disability 46 0.260
213
LMY002 Leiomyoma 51 0.260
214
INT079 Intrahepatic Cholangiocarcinoma 51 0.260
215
SVR004 Severe Combined Immunodeficiency 71 0.260
216
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.260
217
MCH006 Mechanical Strabismus 40 0.260
218
GST092 Gastroesophageal Reflux 60 0.232
219
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 30 0.232
220
c DVL052 Developmental and Epileptic Encephalopathy 26 37 0.232
221
PRT013 Portal Hypertension 59 0.232
222
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.232
223
c SYS001 Systemic Lupus Erythematosus 86 0.232
224
P MNT185 Mental Retardation, Autosomal Dominant 7 44 0.232
225
c WLM013 Wilms Tumor 1 65 0.232
226
BRX001 Bruxism 51 0.232
227
P GLM007 Glomerulonephritis 59 0.232
228
HYP266 Hypoxia 56 0.232
229
P LPS004 Lupus Erythematosus 61 0.232
230
DYR003 Dyrk1a Syndrome 31 0.232
231
P ZNC008 Zinc Finger Protein 1 22 0.201
232
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.201
233
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 57 0.201
234
BRR014 Barrett Esophagus 66 0.201
235
MCS002 Mucositis 55 0.201
236
IMM167 Immune Deficiency Disease 77 0.201
237
ILT001 Ileitis 49 0.201
238
CHR174 Christianson Syndrome 47 0.201
239
c SPN304 Spinocerebellar Ataxia 8 47 0.201
240
HMN044 Human Immunodeficiency Virus Type 1 76 0.201
241
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.201
242
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.201
243
GLT019 Glut1 Deficiency Syndrome 2 38 0.201
244
P HNT016 Huntington Disease 73 0.201
245
ATM095 Autoimmune Disease 61 0.201
246
P MLN066 Melanoma, Cutaneous Malignant 1 66 0.201
247
ALZ030 Alazami Syndrome 35 0.201
248
P FRG001 Fragile X Syndrome 70 0.201
249
P WSK001 Wiskott-Aldrich Syndrome 72 0.201
250
BWN001 Bowen-Conradi Syndrome 54 0.201
251
SRC014 Sarcoma 64 0.201
252
CRD223 Cardiac Arrhythmia 63 0.201
253
c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 34 0.201
254
P VSC007 Vascular Disease 62 0.201
255
PPL022 Papilloma 53 0.201
256
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.201
257
SQM002 Squamous Cell Papilloma 45 0.201
258
P PLM036 Pulmonary Fibrosis 65 0.201
259
P MLT074 Multiple Endocrine Neoplasia 58 0.201
260
MYF001 Myofibroma 42 0.201
261
PST011 Pustulosis of Palm and Sole 52 0.201
262
RST023 Resting Heart Rate, Variation in 40 0.201
263
P SYS005 Systemic Scleroderma 73 0.201
264
P INS002 in Situ Carcinoma 53 0.201
265
P PSR002 Psoriasis 63 0.201
267
MTH021 Methylmalonic Acidemia with Homocystinuria 44 0.201
268
PRX086 Paroxysmal Exertion-Induced Dyskinesia 27 0.201
270
HRD224 Hereditary Nonpolyposis Colon Cancer 51 0.201
271
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.164
272
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.164
273
ANX010 Anxiety 70 0.164
274
c LKM063 Leukemia, Chronic Myeloid 71 0.164
275
c DVL078 Developmental and Epileptic Encephalopathy 54 26 0.164
276
P SML001 Small Cell Carcinoma 52 0.164
277
LWG006 Low Grade Glioma 41 0.164
278
BNR002 Bone Resorption Disease 47 0.164
279
P DVL113 Developmental and Epileptic Encephalopathy 45 0.164
280
DDN010 Duodenum Cancer 52 0.164
281
THY111 Thyroid Carcinoma, Familial Medullary 67 0.164
282
RNL077 Renal Fibrosis 46 0.164
283
P ERL057 Early Infantile Epileptic Encephalopathy 61 0.164
284
c TRN032 Transient Neonatal Diabetes Mellitus 47 0.164
285
MND031 Mandibuloacral Dysplasia Progeroid Syndrome 33 0.164
286
c OVR114 Ovarian Cancer 1 60 0.164
287
LNG108 Langerhans Cell Histiocytosis 57 0.164
288
c PRS074 Prostate Cancer, Hereditary, 10 15 0.164
289
c CLR079 Colorectal Cancer 2 30 0.164
290
LMY014 Leiomyoma, Uterine 55 0.164
291
c SCL052 Scleroderma, Familial Progressive 60 0.164
292
EWN003 Ewing Sarcoma 70 0.164
293
GLS018 Glass Syndrome 60 0.164
294
P RSP003 Respiratory Failure 74 0.164
295
P ALC033 Alcohol Use Disorder 67 0.164
296
CHR100 Chronic Ulcer of Skin 57 0.164
297
LVR012 Liver Cirrhosis 62 0.164
298
ESP025 Esophagus Adenocarcinoma 36 0.164
299
P PRP019 Peripheral Nervous System Disease 57 0.164
300
PST028 Post-Traumatic Stress Disorder 59 0.164
301
MYL031 Myeloproliferative Neoplasm 66 0.164
302
ALC006 Alcoholic Hepatitis 61 0.164
303
DPH001 Diphtheria 59 0.164
304
P NNT058 Neonatal Diabetes 52 0.164
305
PNC129 Pancreatic Adenocarcinoma 65 0.164
306
HST010 Histiocytosis 49 0.164
307
HYP066 Hyperglycemia 60 0.164
308
TRT001 Teratocarcinoma 41 0.164
309
DMY004 Demyelinating Disease 50 0.164
310
ADL023 Adult Medulloblastoma 42 0.164
311
THY125 Thyroid Gland Medullary Carcinoma 48 0.164
312
c SCH080 Schizophrenia 3 27 0.164
313
NRM005 Neuromuscular Disease 63 0.164
314
SPN035 Spindle Cell Sarcoma 51 0.164
315
P MSC003 Muscular Atrophy 52 0.164
316
c CHR684 Chronic Kidney Disease 74 0.164
317
BRN071 Brain Injury 50 0.164
318
OHT001 Ohtahara Syndrome 39 0.164
319
CRC021 Carcinosarcoma 62 0.164
320
P HLP001 Holoprosencephaly 69 0.164
321
HPT022 Hepatoblastoma 54 0.164
322
MBD001 Mbd5 Haploinsufficiency 41 0.164
323
P NRP001 Neuropathy 59 0.164
324
P NRF002 Neurofibromatosis 60 0.164
325
c FML053 Familial Colorectal Cancer 47 0.164
326
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.164
327
FBR019 Fibromatosis 44 0.164
329
NNS057 Non-Severe Combined Immunodeficiency 13 0.164
330
P VTR007 Vitreoretinopathy 45 0.164
331
P MJR007 Major Affective Disorder 1 42 0.116
332
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.116
333
CYS001 Cystic Fibrosis 77 0.116
334
MNT310 Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 35 0.116
335
c OTP006 Otopalatodigital Syndrome, Type I 60 0.116
336
AGN016 Aging 54 0.116
337
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 27 0.116
338
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61 0.116
339
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 67 0.116
340
c DVL027 Developmental and Epileptic Encephalopathy 9 45 0.116
341
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 0.116
343
c DVL039 Developmental and Epileptic Encephalopathy 11 41 0.116
344
c WRB002 Warburg Micro Syndrome 1 51 0.116
345
TTR014 Tetrasomy 18p 30 0.116
346
MCR096 Macrocephaly/autism Syndrome 44 0.116
347
c MNT151 Mental Retardation, Autosomal Recessive 18 21 0.116
348
c DVL058 Developmental and Epileptic Encephalopathy 32 27 0.116
349
DSN002 Desanto-Shinawi Syndrome 35 0.116
350
c MNT337 Mental Retardation, Autosomal Dominant 58 23 0.116
351
NRD059 Neurodegeneration, Childhood-Onset, with Cerebellar Atrophy 24 0.116
352
LPS021 Lopes-Maciel-Rodan Syndrome 22 0.116
353
GBR007 Gabriele-De Vries Syndrome 33 0.116
354
PRT251 Proteinuria, Chronic Benign 58 0.116
355
NRN005 Neuronal Ceroid-Lipofuscinoses 61 0.116
356
WST001 West Syndrome 64 0.116
357
MNT001 Mantle Cell Lymphoma 65 0.116
358
P GRF003 Graft-Versus-Host Disease 71 0.116
359
c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 34 0.116
360
P PRS049 Persistent Mullerian Duct Syndrome 52 0.116
361
GLC003 Glucose Intolerance 53 0.116
362
PNC126 Pancreatic Squamous Cell Carcinoma 14 0.116
363
P PLY041 Polymyositis 59 0.116
364
P KLF001 Kleefstra Syndrome 45 0.116
365
MDD018 Middle East Respiratory Syndrome 44 0.116
366
P DRM010 Dermatomyositis 61 0.116
367
c MGR028 Migraine with or Without Aura 1 64 0.116
368
PLY150 Polykaryocytosis Inducer 29 0.116
369
ALC007 Alcohol Dependence 65 0.116
370
c ART115 Aortic Valve Disease 1 72 0.116
371
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.116
372
BRK010 Burkitt Lymphoma 66 0.116
373
c WLF013 Wolfram Syndrome 1 60 0.116
374
P SLV027 Silver-Russell Syndrome 1 52 0.116
375
P RHM011 Rheumatoid Arthritis 81 0.116
376
CYS044 Cystic Disease of Lung 19 0.116
377
MCK005 Mckusick-Kaufman Syndrome 61 0.116
378
P SLV026 Salivary Gland Carcinoma 60 0.116
379
P CTN015 Cutaneous T Cell Lymphoma 48 0.116
380
EST002 Estrogen-Receptor Negative Breast Cancer 45 0.116
381
P WRB001 Warburg Micro Syndrome 41 0.116
382
CRH005 Crohn's Colitis 53 0.116
383
CRV043 Cervical Dystonia 45 0.116
384
P CTN003 Cutaneous Lupus Erythematosus 52 0.116
385
P SCL048 Sclerosteosis 58 0.116
386
c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 47 0.116
387
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 52 0.116
388
SYN089 Syndromic X-Linked Intellectual Disability Snyder Type 34 0.116
389
P FLL037 Follicular Lymphoma 73 0.116
390
c BNG023 Benign Familial Infantile Epilepsy 57 0.116
391
c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 42 0.116
392
c EPS048 Episodic Ataxia, Type 9 25 0.116
393
c LSS005 Lissencephaly 1 57 0.116
394
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 42 0.116
395
c SZR007 Seizures, Benign Familial Infantile, 3 45 0.116
396
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 50 0.116
397
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.116
398
CHD004 Chudley-Mccullough Syndrome 47 0.116
399
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 0.116
400
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.116
401
HYP748 Hypertelorism 46 0.116
402
KBG001 Kbg Syndrome 54 0.116
403
P NNN008 Noonan Syndrome 1 76 0.116
404
MCC012 Mccune-Albright Syndrome 69 0.116
405
c DYS056 Dystonia 12 63 0.116
406
FLT006 Floating-Harbor Syndrome 52 0.116
407
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55 0.116
408
NRL016 Neural Tube Defects 81 0.116
409
c DVL042 Developmental and Epileptic Encephalopathy 14 52 0.116
410
c CLR094 Ciliary Dyskinesia, Primary, 28 32 0.116
411
c DVL038 Developmental and Epileptic Encephalopathy 7 48 0.116
412
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.116
413
RTT008 Rett Syndrome, Congenital Variant 33 0.116
414
c DVL041 Developmental and Epileptic Encephalopathy 13 43 0.116
415
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 0.116
416
P CNG436 Congenital Disorder of Deglycosylation 51 0.116
417
HLS003 Helsmoortel-Van Der Aa Syndrome 48 0.116
418
MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 26 0.116
419
PHL006 Phelan-Mcdermid Syndrome 62 0.116
420
c MNT158 Mental Retardation, Autosomal Dominant 22 31 0.116
421
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 50 0.116
422
P SHR029 Short Syndrome 58 0.116
423
c DVL035 Developmental and Epileptic Encephalopathy 4 38 0.116
424
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.116
425
c HYP522 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 28 0.116
426
c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 32 0.116
427
GST103 Gastric Cancer, Hereditary Diffuse 68 0.116
428
P PRD006 Prader-Willi Syndrome 60 0.116
429
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.116
430
P TTR001 Tetralogy of Fallot 69 0.116
431
c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 32 0.116
432
NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 20 0.116
433
LWC001 Low Compliance Bladder 44 0.116
434
ISC004 Ischemia 61 0.116
435
END041 Endometrial Adenocarcinoma 63 0.116
436
P CCK001 Cockayne Syndrome 68 0.116
437
SVR001 Severe Acute Respiratory Syndrome 68 0.116
438
BRS099 Breast Ductal Carcinoma 61 0.116
439
LRY018 Laryngeal Squamous Cell Carcinoma 47 0.116
440
PLM009 Pleomorphic Adenoma Carcinoma 33 0.116
441
BRN024 Bronchitis 67 0.116
442
P MVM001 Movement Disease 61 0.116
443
ACT084 Acute Stress Disorder 53 0.116
444
UTR024 Uterine Carcinosarcoma 58 0.116
445
P DYS154 Dystonia 64 0.116
446
c HPT016 Hepatitis B 62 0.116
447
P LTR001 Lateral Sclerosis 58 0.116
448
P ATR010 Atrial Heart Septal Defect 58 0.116
449
P HPT021 Hepatitis 68 0.116
450
NRN004 Neuroendocrine Tumor 55 0.116
451
HRT011 Heart Septal Defect 49 0.116
452
ISL001 Islet Cell Tumor 55 0.116
453
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.116
454
P VNT002 Ventricular Septal Defect 58 0.116
455
P NTR004 Neutropenia 62 0.116
456
CRN027 Corneal Neovascularization 47 0.116
457
SLC006 Silicosis 55 0.116
458
P PLY011 Polycystic Ovary Syndrome 57 0.116
459
INT066 Interstitial Lung Disease 60 0.116
460
PSD009 Pseudohermaphroditism 47 0.116
461
EMB004 Embryonal Carcinoma 55 0.116
462
MDD011 Mood Disorder 62 0.116
463
P GLL018 Gallbladder Cancer 53 0.116
464
SPP011 Suppression of Tumorigenicity 12 61 0.116
465
PHN003 Phenylketonuria 76 0.116
466
DRV001 Dravet Syndrome 70 0.116
467
c DBT064 Diabetes Mellitus, Transient Neonatal, 1 31 0.116
468
SQM013 Squamous Cell Carcinoma, Head and Neck 75 0.116
469
STC008 Stocco Dos Santos Syndrome 19 0.116
470
TCL008 T-Cell Lymphoma 1a 17 0.116
471
WLL004 Wallerian Degeneration 38 0.116
472
STX005 Stxbp1 Encephalopathy 23 0.116
473
PNC013 Pancreatic Ductal Carcinoma 48 0.116
474
c PRM212 Primary Microcephaly 40 0.116
475
c DVL053 Developmental and Epileptic Encephalopathy 27 29 0.116
476
CYT002 Cytokine Deficiency 43 0.116
477
MLG120 Malignant Migrating Partial Seizures of Infancy 44 0.116
478
P SMP003 Simpson-Golabi-Behmel Syndrome 50 0.116
479
P TRM003 Tremor 50 0.116
480
INF065 Infantile Hypotonia 21 0.116
481
PTT037 Pituitary Tumors 44 0.116
482
P LCH002 Lichen Planus 55 0.116
484
LNG099 Lung Disease 62 0.116
485
CLN019 Colonic Disease 47 0.116
486
PLM014 Pleomorphic Adenoma 51 0.116
487
P ART022 Arthritis 70 0.116
488
CCN002 Cocaine Abuse 49 0.116
489
MNC006 Monoclonal Gammopathy of Uncertain Significance 48 0.116
492
IRR002 Irritable Bowel Syndrome 65 0.116
493
P DBT009 Diabetes Mellitus 67 0.116
494
MD2001 Med23 18 0.116
495
DNC004 Diencephalic Syndrome 36 0.116
497
STX004 Stxbp1 Encephalopathy with Epilepsy 14 0.116
498
RDT005 Radiation Induced Cancer 21 0.116
499
c PSD047 Pseudo-Turner Syndrome 52 0.116
500
DFF036 Differentiated Thyroid Carcinoma 51 0.116
501
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.116
502
CMP097 Complex Chromosomal Rearrangement 23 0.116
503
c UNP012 Uniparental Disomy of Chromosome 7 14 0.116
504
PCH007 Pouchitis 42 0.116
505
XLN236 X-Linked Intellectual Disability-Epilepsy Syndrome 22 0.116
506
SQM014 Squamous Cell Carcinoma of Pancreas 14 0.116
507
DGS009 Digestive Tract Malformation 7 0.116
508
PRM329 Premature Aging 36 0.116
509
INT358 Intestinal Polyposis Syndrome 25 0.116
510
c MTR067 Maternal Uniparental Disomy of Chromosome 16 16 0.116
511
MTR087 Maternal Uniparental Disomy 27 0.116
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