Search results for notch1

1121 hits were found for notch1

# Family MCID Name MIFTS Score
1
P ADM011 Adams-Oliver Syndrome 59 70.712
2
c ADM010 Adams-Oliver Syndrome 5 33 70.676
3
c ART115 Aortic Valve Disease 1 72 48.574
4
P FML364 Familial Thoracic Aortic Aneurysm and Aortic Dissection 71 24.424
5
P BRS047 Breast Cancer 97 21.454
6
P LKM002 Leukemia 66 21.287
7
CNN005 Connective Tissue Disease 66 20.837
8
P LNG032 Lung Cancer 98 20.797
9
ADN011 Adenoid Cystic Carcinoma 68 20.080
10
P TTR001 Tetralogy of Fallot 69 20.078
11
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 19.602
12
P HYP055 Hypoplastic Left Heart Syndrome 65 19.367
13
SQM006 Squamous Cell Carcinoma 59 19.189
14
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 18.377
15
P LKM062 Leukemia, Acute Lymphoblastic 69 17.935
16
P CLR023 Colorectal Cancer 100 17.611
17
P HPT023 Hepatocellular Carcinoma 95 17.362
18
P GST053 Gastric Cancer 82 16.769
19
P PRS040 Prostate Cancer 95 16.482
20
P ART028 Aortic Aneurysm, Familial Thoracic 4 61 16.409
21
c HYP543 Hypoplastic Left Heart Syndrome 1 46 15.913
22
P HRT032 Heart Disease 84 15.712
23
P OVR042 Ovarian Cancer 88 15.563
24
P PNC035 Pancreatic Cancer 86 15.074
25
P LKM071 Leukemia, Chronic Lymphocytic 74 15.064
26
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 14.206
27
CRV035 Cervical Cancer 72 13.828
28
OLV002 Oliver Syndrome 41 12.959
29
P HMN010 Hemangioma 61 12.422
30
ART016 Aortic Aneurysm 69 12.361
31
c ACT073 Acute Leukemia 59 12.215
32
LYM040 Lymphoblastic Lymphoma 53 12.059
33
P SKN015 Skin Carcinoma 71 11.639
34
TNG007 Tongue Carcinoma 55 11.388
35
P ALZ034 Alzheimer Disease 87 11.190
36
SVR004 Severe Combined Immunodeficiency 71 10.870
37
HRT038 Heart, Malformation of 36 10.856
38
MRF001 Marfan Syndrome 76 10.826
39
c WLM013 Wilms Tumor 1 65 10.767
40
CMB007 Combined Immunodeficiency 56 10.752
41
P NRB001 Neuroblastoma 66 10.585
42
INT079 Intrahepatic Cholangiocarcinoma 51 10.429
43
ANR040 Aneurysm 60 10.210
44
TNG009 Tongue Squamous Cell Carcinoma 43 10.170
45
CLR030 Clear Cell Renal Cell Carcinoma 54 10.103
46
MNT001 Mantle Cell Lymphoma 65 10.089
47
P MDL005 Medulloblastoma 75 10.045
48
CLN015 Colon Adenocarcinoma 64 10.010
49
LNG039 Lung Squamous Cell Carcinoma 57 9.923
50
LYM143 Lymphoma, Non-Hodgkin, Familial 79 9.728
51
P ALG028 Alagille Syndrome 1 73 9.660
52
P VNT002 Ventricular Septal Defect 58 9.530
53
c BSL007 Basal Cell Carcinoma 68 9.467
54
RCH001 Richter's Syndrome 44 9.436
55
BRN028 Brain Cancer 73 9.178
56
CRC014 Carcinoid Tumors, Intestinal 46 9.169
57
ACT119 Acute Promyelocytic Leukemia 62 9.165
58
MCP006 Mucoepidermoid Carcinoma 48 9.083
59
HMT002 Hematologic Cancer 61 9.080
60
MYL009 Myelodysplastic Syndrome 67 9.068
61
P PHC003 Pheochromocytoma 70 9.068
62
P FCL005 Focal Segmental Glomerulosclerosis 57 9.055
63
ART074 Aortic Dissection 53 9.042
64
MRK001 Merkel Cell Carcinoma 65 9.001
65
P APL001 Aplastic Anemia 73 8.918
66
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 8.907
67
ART017 Aortic Disease 49 8.845
68
PRP036 Peripheral T-Cell Lymphoma 52 8.831
69
LPP008 Lipoprotein Quantitative Trait Locus 65 8.801
70
BRN032 Brain Glioma 45 8.801
71
LCR006 Lacrimal Gland Adenoid Cystic Carcinoma 28 8.785
72
INV004 Invasive Bladder Transitional Cell Carcinoma 31 8.768
73
c LKM061 Leukemia, Acute Myeloid 83 8.593
74
ANP005 Anaplastic Astrocytoma 59 8.340
75
P BNC003 Bone Cancer 58 8.255
76
MCR013 Microphthalmia 60 8.185
77
LNG030 Lung Adenoma 37 8.185
78
P KLF001 Kleefstra Syndrome 45 8.154
79
P OSS001 Ossifying Fibroma 42 8.154
80
MTH009 Mouth Disease 57 8.154
81
P HLP001 Holoprosencephaly 69 8.113
82
MYL069 Myeloma, Multiple 77 8.061
83
P FRD001 Friedreich Ataxia 62 8.015
84
END081 Endosteal Hyperostosis, Autosomal Dominant 54 8.015
85
P PRN023 Prion Disease 60 8.015
86
P HYD006 Hydrocephalus 63 8.015
87
ADN002 Adenoiditis 36 7.744
88
SHN001 Shone Complex 15 7.033
89
NDL013 Nodular Regenerative Hyperplasia 46 6.941
90
HRT011 Heart Septal Defect 49 6.930
91
MLG169 Malignant Astrocytoma 57 6.859
92
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 6.841
93
P PRP019 Peripheral Nervous System Disease 57 6.666
94
SRT004 Serotonin Syndrome 54 6.497
95
TCL024 T-Cell Non-Hodgkin Lymphoma 39 6.438
96
PLS025 Plasmablastic Lymphoma 56 6.421
97
DBL002 Double Outlet Right Ventricle 57 6.403
98
SPL060 Splenic Diffuse Red Pulp Small B-Cell Lymphoma 29 6.340
99
BNS004 Bone Squamous Cell Carcinoma 33 6.282
100
GLM045 Glioma 62 6.128
101
P LFT003 Left Ventricular Noncompaction 57 5.927
102
HJD001 Hajdu-Cheney Syndrome 61 5.908
103
c SPN297 Spondylocostal Dysostosis 3, Autosomal Recessive 53 5.908
104
P LYS001 Loeys-Dietz Syndrome 65 5.864
105
P ATR010 Atrial Heart Septal Defect 58 5.864
106
P DWL001 Dowling-Degos Disease 44 5.837
107
P RTN008 Retinitis Pigmentosa 79 5.806
108
ORP003 Oropharynx Cancer 54 5.806
109
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 5.766
110
BSL036 Basal Cell Nevus Syndrome 73 5.668
111
WLS003 Wilson-Turner X-Linked Mental Retardation Syndrome 47 5.668
112
c ORF016 Orofacial Cleft 8 41 5.668
113
RSP023 Rasopathy 54 5.668
114
MYL062 Myeloid and Lymphoid Neoplasms Associated with Fgfr1 Abnormalities 25 5.668
115
CRD007 Cardiovascular Organ Benign Neoplasm 25 5.668
116
c MNT242 Mental Retardation, Autosomal Dominant 40 42 5.668
117
c ORF023 Orofacial Cleft 4 24 5.668
118
SCL046 Scalp-Ear-Nipple Syndrome 49 5.668
119
c EXD006 Exudative Vitreoretinopathy 5 40 5.668
120
TNG004 Tongue Disease 43 5.668
121
DSS008 Disease of Mental Health 74 5.668
122
INF039 Infratentorial Cancer 38 5.668
123
c ADL015 Adult Liposarcoma 31 5.668
124
BRS022 Breast Liposarcoma 23 5.668
125
CRB033 Cerebral Degeneration 36 5.668
126
UTR030 Uterine Adnexa Cancer 21 5.668
127
P PTN014 Patent Ductus Arteriosus 1 59 5.668
128
P BLR006 Biliary Tract Disease 46 5.668
129
BNM001 Bone Marrow Cancer 45 5.668
130
TNS004 Tonsil Cancer 44 5.668
131
GLL048 Glial Tumor 52 5.173
132
GLB002 Glioblastoma 67 4.487
133
c LKM005 Leukemia, T-Cell, Chronic 33 4.194
134
ESP021 Esophageal Cancer 84 3.923
135
P MLN008 Melanoma 75 3.910
136
SQM013 Squamous Cell Carcinoma, Head and Neck 75 3.806
137
HYP266 Hypoxia 56 3.735
138
ORL015 Oral Squamous Cell Carcinoma 43 3.708
139
P LNG064 Lung Cancer Susceptibility 3 70 3.699
140
P LYM118 Lymphoma 69 3.670
141
c SML038 Small Cell Cancer of the Lung 69 3.527
142
P BLD134 Bladder Cancer 79 3.361
143
CHR178 Chromosomal Triplication 34 3.272
144
P BCL017 B-Cell Lymphoma 57 3.159
145
CRB004 Cerebral Artery Occlusion 46 3.033
146
END057 Endometrial Cancer 71 2.987
147
P ADN016 Adenocarcinoma 63 2.949
148
RNL114 Renal Cell Carcinoma, Nonpapillary 79 2.946
149
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 2.909
150
ISC004 Ischemia 61 2.908
151
P GLM040 Glioma Susceptibility 1 70 2.879
152
c HPT016 Hepatitis B 62 2.705
153
THY029 Thyroid Carcinoma 54 2.692
154
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 2.636
155
SKN022 Skin Squamous Cell Carcinoma 54 2.636
156
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 2.636
157
OST159 Osteogenic Sarcoma 66 2.524
158
P PLM036 Pulmonary Fibrosis 65 2.486
159
CHL065 Cholangiocarcinoma 58 2.414
160
P NSP012 Nasopharyngeal Carcinoma 60 2.321
161
LRY018 Laryngeal Squamous Cell Carcinoma 47 2.321
162
c MCR133 Microvascular Complications of Diabetes 4 41 2.289
163
c MCR113 Microvascular Complications of Diabetes 3 52 2.289
164
c MCR130 Microvascular Complications of Diabetes 6 41 2.289
165
c MCR120 Microvascular Complications of Diabetes 7 47 2.289
166
OVR094 Ovarian Epithelial Cancer 39 2.245
167
P THY023 Thymoma 64 2.175
168
c THY107 Thymoma, Familial 42 2.175
169
HLX001 Helix Syndrome 47 2.147
170
P RTN024 Retinoblastoma 72 2.120
171
HYP066 Hyperglycemia 60 2.099
172
P MYC007 Myocardial Infarction 69 2.093
173
MRF007 Marfanoid Hypermobility Syndrome 50 2.070
174
STR067 Stroke, Ischemic 79 2.062
175
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.062
176
P MYL006 Myeloid Leukemia 60 2.062
177
DFF005 Diffuse Large B-Cell Lymphoma 55 2.021
178
ORL011 Oral Cancer 60 1.992
179
LYM133 Lymphoma, Hodgkin, Classic 74 1.986
180
DCT002 Ductal Carcinoma in Situ 58 1.983
181
PLM129 Pulmonary Disease, Chronic Obstructive 74 1.973
182
c CWD006 Cowden Syndrome 1 79 1.963
183
c ART101 Aortic Valve Disease 2 65 1.958
184
CLB026 Colobomatous Microphthalmia 46 1.931
185
GST040 Gastric Adenocarcinoma 66 1.895
186
HGH043 High Grade Glioma 46 1.865
187
48X005 48,xyyy 39 1.831
188
P INS002 in Situ Carcinoma 53 1.824
189
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.822
190
c PRC016 Pre-Eclampsia 64 1.817
191
BRN071 Brain Injury 50 1.794
192
P HPT021 Hepatitis 68 1.791
193
BRS099 Breast Ductal Carcinoma 61 1.777
194
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 1.715
195
P SPP010 Suppressor of Tumorigenicity 3 51 1.712
196
P TCD001 Tic Disorder 50 1.712
197
c PCH010 Pachyonychia Congenita 3 43 1.677
198
PLM026 Pilomatrixoma 57 1.676
199
GST103 Gastric Cancer, Hereditary Diffuse 68 1.676
200
SKN019 Skin Melanoma 70 1.654
201
CYT002 Cytokine Deficiency 43 1.653
202
47X002 47,xyy 48 1.644
203
ADN018 Adenoma 58 1.638
204
THY006 Thymus Lymphoma 27 1.636
205
LKP003 Leukoplakia 39 1.627
206
OST012 Osteoarthritis 77 1.619
207
THY121 Thyroid Gland Anaplastic Carcinoma 66 1.619
208
PRT251 Proteinuria, Chronic Benign 58 1.610
209
SPN186 Spinal Cord Injury 61 1.610
210
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 1.601
211
P EPL164 Epilepsy 70 1.592
212
SML009 Small Intestine Adenocarcinoma 57 1.591
213
P EPD083 Epidermodysplasia Verruciformis 1 57 1.582
214
NRN004 Neuroendocrine Tumor 55 1.532
215
ALL014 Allergic Encephalomyelitis 34 1.507
216
INT029 Interleukin-7 Receptor Alpha Deficiency 28 1.489
217
THY111 Thyroid Carcinoma, Familial Medullary 67 1.471
218
P ADL017 Adult T-Cell Leukemia 54 1.452
219
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.452
220
RCS008 Recessive Dystrophic Epidermolysis Bullosa-Generalized Other 27 1.444
221
SRC014 Sarcoma 64 1.432
222
DMY004 Demyelinating Disease 50 1.432
223
SPN035 Spindle Cell Sarcoma 51 1.432
224
c CLR087 Colorectal Cancer 12 34 1.415
225
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 60 1.415
226
ALL006 Allergic Asthma 56 1.412
227
BNR002 Bone Resorption Disease 47 1.388
228
BLD173 Bladder Small Cell Carcinoma 44 1.375
229
ESP020 Esophageal Atresia 60 1.365
230
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 46 1.365
231
PYL006 Pyloric Stenosis 48 1.365
232
P CWD010 Cowden Syndrome 71 1.361
233
PPL022 Papilloma 53 1.361
234
SQM002 Squamous Cell Papilloma 45 1.361
235
PST011 Pustulosis of Palm and Sole 52 1.361
236
P PSR002 Psoriasis 63 1.361
237
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.360
238
c THY109 Thyroid Cancer, Nonmedullary, 1 55 1.352
239
P ART005 Arteriovenous Malformation 65 1.352
240
DGN001 Degenerative Disc Disease 48 1.352
241
STT001 Status Epilepticus 58 1.344
242
P ART022 Arthritis 70 1.343
243
BRT002 Birt-Hogg-Dube Syndrome 64 1.334
244
FTT001 Fatty Liver Disease 61 1.334
245
P ANP001 Anaplastic Large Cell Lymphoma 61 1.315
246
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 1.305
247
P END044 Endometriosis 62 1.293
248
c ATR087 Atrial Standstill 1 74 1.284
249
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 1.284
250
KPS004 Kaposi Sarcoma 76 1.274
251
ORL012 Oral Leukoplakia 35 1.274
252
END041 Endometrial Adenocarcinoma 63 1.270
253
LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 36 1.263
254
P OST002 Osteoporosis 77 1.252
255
P CTN015 Cutaneous T Cell Lymphoma 48 1.252
256
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 1.252
257
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 1.252
258
c PLM164 Pulmonary Hypertension, Primary, 1 80 1.229
259
P OLG002 Oligodendroglioma 66 1.221
260
CRC006 Carcinoid Syndrome 55 1.201
261
P TMP001 Temporal Lobe Epilepsy 49 1.191
262
ECC004 Eccrine Porocarcinoma 40 1.179
263
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 1.178
264
9Q2001 9q22.3 Microdeletion 24 1.167
265
P UVT001 Uveitis 57 1.163
266
MNN043 Meningioma, Familial 79 1.163
267
CHL061 Childhood Leukemia 47 1.150
268
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.143
269
BRK010 Burkitt Lymphoma 66 1.143
270
P LRY044 Larynx Cancer 53 1.143
271
TRM010 Traumatic Brain Injury 50 1.143
272
EPD081 Epidermoid Brain Cyst 24 1.143
273
SPL018 Splenomegaly 47 1.134
274
ANG020 Angiosarcoma 63 1.133
275
DFC004 Deficiency Anemia 74 1.133
276
RMB001 Rombo Syndrome 29 1.131
277
P TRC095 Trichoepithelioma, Multiple Familial, 1 32 1.131
278
ALL003 Allergic Rhinitis 66 1.122
279
P RHN004 Rhinitis 57 1.122
280
AGN016 Aging 54 1.112
281
ATH013 Atherosclerosis Susceptibility 63 1.104
282
ATM095 Autoimmune Disease 61 1.100
283
P OVR082 Overgrowth Syndrome 42 1.100
284
c PRK075 Porokeratosis 7, Multiple Types 27 1.093
285
P PRK067 Porokeratosis 8, Disseminated Superficial Actinic Type 24 1.093
286
c PRK080 Porokeratosis 3, Multiple Types 33 1.093
287
c MLG049 Malignant Syringoma 37 1.093
288
PRT013 Portal Hypertension 59 1.089
289
HST010 Histiocytosis 49 1.089
290
PRP030 Purpura 54 1.089
291
c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 51 1.081
292
PPL049 Papillon-Lefevre Syndrome 65 1.081
293
c PLM159 Palmoplantar Keratoderma, Punctate Type Ia 38 1.081
294
ICH035 Ichthyosis, Hystrix-Like, with Deafness 29 1.081
295
MLG048 Malignant Acrospiroma 34 1.081
296
P EPD009 Epidermolysis Bullosa Dystrophica 66 1.081
297
CHL152 Childhood Acute Lymphocytic Leukemia 50 1.077
298
AML029 Ameloblastoma 46 1.065
299
LNG108 Langerhans Cell Histiocytosis 57 1.065
300
P KDN017 Kidney Cancer 60 1.065
302
THY128 Thyroid Tumor 33 1.065
303
P FLL037 Follicular Lymphoma 73 1.059
304
P AST005 Asthma 76 1.053
305
ADR040 Adrenal Gland Pheochromocytoma 45 1.053
306
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 1.053
307
CLT003 Colitis 63 1.053
308
MYC006 Mycosis Fungoides 65 1.040
309
THR100 Thrombocytopenic Purpura, Autoimmune 60 1.040
310
HRT012 Heart Valve Disease 53 1.040
311
P TMR010 Tumor Predisposition Syndrome 69 1.040
312
CLF027 Cleft Palate, Isolated 64 1.027
313
FBR012 Fabry Disease 71 1.027
314
SKN016 Skin Disease 62 1.027
315
SFT003 Soft Tissue Sarcoma 57 1.027
316
CLL010 Cellular Ependymoma 58 1.023
317
RNL077 Renal Fibrosis 46 1.022
318
c TYP009 Type 2 Diabetes Mellitus 92 1.013
319
RPD005 Rapidly Involuting Congenital Hemangioma 48 1.013
320
PLY150 Polykaryocytosis Inducer 29 0.998
321
P MYC084 Mycobacterium Tuberculosis 1 68 0.998
322
P GST044 Gastritis 55 0.998
323
LNG099 Lung Disease 62 0.998
324
c ALB010 Albinism, Oculocutaneous, Type Ib 52 0.972
325
c CHR711 Chronic Asthma 41 0.967
326
c RTN041 Retinitis Pigmentosa 11 43 0.967
327
LMY014 Leiomyoma, Uterine 55 0.959
328
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.950
329
ACT098 Acute Erythroid Leukemia 55 0.950
330
P LTR001 Lateral Sclerosis 58 0.950
331
MYL031 Myeloproliferative Neoplasm 66 0.950
332
P MXD050 Mixed Phenotype Acute Leukemia 45 0.950
333
CRT015 Carotid Artery Occlusion 45 0.950
334
c MSM022 Mismatch Repair Cancer Syndrome 1 69 0.943
335
c GLM043 Glioma Susceptibility 9 30 0.943
336
c GLM047 Glioma Susceptibility 3 32 0.943
337
c GLM025 Glioma Susceptibility 2 29 0.943
338
PTY007 Pityriasis Rotunda 26 0.943
339
ULC004 Ulcerative Colitis 74 0.936
340
P PLM037 Pulmonary Hypertension 69 0.932
341
BCT022 Bacterial Infectious Disease 56 0.932
342
P MYP004 Myopathy 67 0.932
343
NRN001 Neuroendocrine Carcinoma 47 0.925
344
P RHB003 Rhabdomyosarcoma 66 0.920
345
P RTH006 Rothmund-Thomson Syndrome, Type 2 67 0.913
346
THY125 Thyroid Gland Medullary Carcinoma 48 0.913
348
P LYM033 Lymphoproliferative Syndrome 59 0.892
349
SNG003 Single Ventricular Heart 30 0.892
350
c MCR115 Microvascular Complications of Diabetes 5 65 0.892
351
P INF037 Inflammatory Bowel Disease 53 0.892
352
APL023 Aplasia Cutis Congenita, Nonsyndromic 46 0.892
353
TLN003 Telangiectasis 51 0.892
354
P LFR001 Li-Fraumeni Syndrome 73 0.883
355
P SML001 Small Cell Carcinoma 52 0.880
356
P PRK001 Porokeratosis 54 0.880
357
RHB024 Rhabdomyosarcoma 2 65 0.878
358
P ATX030 Ataxia-Telangiectasia 80 0.868
359
P GLM007 Glomerulonephritis 59 0.868
360
CNN003 Conn's Syndrome 77 0.866
361
CRB039 Cerebrovascular Disease 65 0.856
362
P VSC007 Vascular Disease 62 0.856
363
KLD004 Keloid Disorder 39 0.856
364
ADN089 Adenosquamous Lung Carcinoma 49 0.850
365
IGG001 Iga Glomerulonephritis 50 0.843
366
ALC006 Alcoholic Hepatitis 61 0.843
367
CHR074 Choriocarcinoma 46 0.843
368
P FML011 Familial Adenomatous Polyposis 71 0.829
369
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59 0.829
370
P RRT020 Rare Tumor 39 0.829
371
ESP027 Esophagus Squamous Cell Carcinoma 45 0.825
372
c LKM063 Leukemia, Chronic Myeloid 71 0.816
373
P RHM011 Rheumatoid Arthritis 81 0.816
374
LMB062 Limb Ischemia 55 0.816
375
CLR108 Colorectal Adenoma 63 0.816
376
c SYS001 Systemic Lupus Erythematosus 86 0.816
377
MNC006 Monoclonal Gammopathy of Uncertain Significance 48 0.816
378
CLL014 Cll/sll 45 0.801
379
P ECL001 Eclampsia 52 0.801
380
P LVR013 Liver Disease 68 0.801
381
RSD004 Rosai-Dorfman Disease 49 0.801
382
P HRP006 Herpes Simplex 65 0.801
383
DBT010 Diabetic Neuropathy 54 0.801
384
GLM044 Glomerular Disease 34 0.801
385
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 0.800
386
ART140 Arteries, Anomalies of 52 0.786
387
c THY102 Thyroid Cancer, Nonmedullary, 2 54 0.786
388
c SPN225 Spondyloarthropathy 1 70 0.786
389
CLR109 Colorectal Adenocarcinoma 50 0.786
390
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.786
391
HYP060 Hyperinsulinism 53 0.786
392
SPN051 Spondylitis 51 0.786
393
URM002 Uremia 47 0.786
394
INF009 Inflammatory Spondylopathy 30 0.786
395
INS001 Insulinoma 59 0.786
396
KRT003 Keratinizing Squamous Cell Carcinoma 36 0.786
397
NNL006 Non-Alcoholic Steatohepatitis 54 0.770
398
c ADM005 Adams-Oliver Syndrome 1 40 0.770
399
P SCL018 Scoliosis 57 0.770
400
c ADM012 Adams-Oliver Syndrome 6 23 0.770
401
c TBR025 Tuberous Sclerosis 1 84 0.770
402
P TBR001 Tuberous Sclerosis 69 0.770
403
TBR011 Tuberculous Meningitis 48 0.770
404
CRV002 Cervix Uteri Carcinoma in Situ 48 0.770
405
CRV045 Cervical Intraepithelial Neoplasia 38 0.770
406
P DBT009 Diabetes Mellitus 67 0.770
407
PRL017 Prolymphocytic Leukemia 47 0.753
408
P MLT020 Multiple Sclerosis 79 0.753
409
P MYP006 Myopia 55 0.753
410
P DRR001 Diarrhea 55 0.753
411
P INF032 Infertility 60 0.753
412
P ART018 Aortic Valve Insufficiency 52 0.753
413
TRN018 Transitional Cell Carcinoma 56 0.753
414
ALL029 Allergic Disease 61 0.753
415
TCL005 T-Cell Prolymphocytic Leukemia 48 0.753
416
c ATM075 Autoimmune Encephalitis 39 0.753
417
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.746
418
RTC012 Reticuloendotheliosis, X-Linked 35 0.735
419
c HYP836 Hypercholesterolemia, Familial, 1 73 0.735
420
c DMN023 Diamond-Blackfan Anemia 1 68 0.735
421
PRP009 Peripartum Cardiomyopathy 54 0.735
422
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.735
423
HYP014 Hyperuricemia 51 0.735
424
P PTT006 Pituitary Adenoma 55 0.735
425
PPL002 Papillary Carcinoma 46 0.735
426
DPR016 Depression 65 0.735
427
SGN002 Signet Ring Cell Adenocarcinoma 46 0.735
428
P LPS004 Lupus Erythematosus 61 0.735
429
c ACT075 Acute Myocardial Infarction 55 0.735
430
P MNN013 Meningitis 65 0.735
431
P HYP098 Hypereosinophilic Syndrome 66 0.735
432
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 34 0.735
433
c NPH049 Nephrotic Syndrome, Type 2 52 0.716
434
ALG016 Alagille Syndrome 2 34 0.716
435
STR103 Streptococcus Pneumonia 47 0.716
436
P CRC039 Coarctation of Aorta 46 0.716
437
PNC001 Pancytopenia 52 0.716
438
KRT001 Keratoconjunctivitis Sicca 49 0.716
439
P EMB005 Embryonal Rhabdomyosarcoma 53 0.716
440
P HYP040 Hypospadias 51 0.716
441
KRT002 Keratomalacia 54 0.716
442
MCL006 Macular Retinal Edema 56 0.716
443
P PNM007 Pneumonia 64 0.716
444
PRQ002 Paraquat Poisoning 28 0.716
445
MXD026 Mixed Glioma 45 0.711
446
PRS129 Prostatic Hyperplasia, Benign 48 0.695
447
c PRS134 Prostate Cancer, Hereditary, 3 20 0.695
448
c ADM007 Adams-Oliver Syndrome 2 33 0.695
449
XRP001 Xerophthalmia 42 0.695
450
P PRK057 Parkinson Disease, Late-Onset 79 0.695
451
P MLN069 Melanoma, Uveal 59 0.695
452
c ATS007 Autism Spectrum Disorder 72 0.695
453
OCL008 Oculopharyngeal Muscular Dystrophy 53 0.695
454
P CRB048 Cerebral Cavernous Malformations 63 0.695
455
P BND020 Bone Disease 60 0.695
456
PRS021 Prostatic Adenoma 43 0.695
457
PRS045 Prostatic Hypertrophy 52 0.695
458
DRM006 Dermatitis 62 0.695
459
STM007 Stomatitis 52 0.695
460
CLC010 Calcifying Epithelial Odontogenic Tumor 28 0.695
461
P ALP008 Alopecia 53 0.695
462
LYM052 Lymphomatoid Papulosis 37 0.695
463
LNG019 Lung Combined Type Small Cell Carcinoma 32 0.687
464
P LNG021 Lung Occult Small Cell Carcinoma 20 0.687
465
ADN027 Adenomyosis 59 0.672
466
MYC071 Myoclonic-Atonic Epilepsy 32 0.672
467
MLD018 Mild Cognitive Impairment 48 0.672
468
c FNC027 Fanconi Anemia, Complementation Group a 81 0.672
469
P DRM053 Dermatitis, Atopic 65 0.672
470
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.672
471
P ATS364 Autism 72 0.672
472
P CHL002 Childhood Absence Epilepsy 63 0.672
473
EXS001 Exostosis 49 0.672
474
P CHR285 Chronic Myelomonocytic Leukemia 59 0.672
475
c HRD202 Hereditary Lymphedema I 55 0.672
476
INT060 Intestinal Atresia 40 0.672
477
LMY002 Leiomyoma 51 0.672
478
ACQ007 Acquired Immunodeficiency Syndrome 58 0.672
479
c INF023 Inflammatory Breast Carcinoma 48 0.672
480
P CRV039 Cervicitis 52 0.672
481
P BNG032 Benign Mesothelioma 53 0.672
482
SPP011 Suppression of Tumorigenicity 12 61 0.672
483
c CHR085 Chronic Cervicitis 32 0.672
484
DBT006 Diabetic Macular Edema 48 0.672
485
P BLD062 Bile Duct Cancer 68 0.670
486
PPL004 Papillary Squamous Carcinoma 39 0.667
487
LNG012 Lung Occult Squamous Cell Carcinoma 20 0.646
488
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 20 0.646
489
LNR004 Linear Porokeratosis 33 0.646
490
ANX010 Anxiety 70 0.646
491
P END033 Endocarditis 58 0.646
492
INF034 Infective Endocarditis 53 0.646
493
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 42 0.646
494
CRD132 Cardiac Conduction Defect 59 0.646
495
P RTN018 Retinal Disease 53 0.646
496
SYN007 Synovitis 54 0.646
497
ACR007 Acromegaly 70 0.646
498
ISL001 Islet Cell Tumor 55 0.646
499
PLC002 Plica Syndrome 35 0.646
500
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.646
501
PRC002 Paracoccidioidomycosis 53 0.646
502
BRS004 Breast Angiosarcoma 36 0.646
503
MLG079 Malignant Pleural Mesothelioma 42 0.646
504
HYP056 Hypoglycemia 65 0.646
505
HRT036 Heritable Thoracic Aortic Disease 36 0.646
506
P NRP001 Neuropathy 59 0.646
507
CNG009 Congenital Aortic Valve Stenosis 21 0.646
508
NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 41 0.646
509
CRN270 Coronary Artery Dissection, Spontaneous 32 0.615
510
c EXS019 Exostoses, Multiple, Type I 54 0.615
511
NRL016 Neural Tube Defects 81 0.615
512
GLS001 Gliosarcoma 63 0.615
513
P MLT074 Multiple Endocrine Neoplasia 58 0.615
514
PLS011 Plasmacytoma 56 0.615
515
EPT001 Epithelioid Cell Melanoma 21 0.615
516
c CRB094 Cerebral Cavernous Malformations 3 41 0.615
517
HYP223 Hypoplastic Right Heart Syndrome 32 0.615
518
DYS073 Dysphagia 53 0.615
519
SYN036 Syncope 44 0.615
520
SPR008 Supratentorial Primitive Neuroectodermal Tumor 42 0.615
521
c HPT073 Hepatitis C Virus 71 0.593
522
MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 42 0.574
523
GLC003 Glucose Intolerance 53 0.574
524
NDL024 Nodal Marginal Zone Lymphoma 37 0.574
525
c HPT003 Hepatitis a 63 0.574
526
c ATM011 Autoimmune Hepatitis 62 0.574
527
DBT007 Diabetic Cataract 35 0.574
528
c CRB191 Cerebral Cavernous Malformations 2 45 0.574
529
GST045 Gastroenteritis 58 0.574
530
P CTR002 Cataract 59 0.574
531
DFF012 Differentiating Neuroblastoma 27 0.574
532
P PLM034 Pulmonary Emphysema 58 0.574
533
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.574
534
P SCH015 Schizophrenia 74 0.547
535
HRY003 Hairy Cell Leukemia 61 0.508
536
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.483
537
HMP005 Hemiplegia 53 0.476
538
BRN004 Brain Edema 54 0.476
539
P INH011 Inherited Bone Marrow Failure Syndromes 34 0.476
540
VNH007 Von Hippel-Lindau Syndrome 73 0.471
541
P SLV026 Salivary Gland Carcinoma 60 0.471
542
c ADL052 Adult Acute Lymphocytic Leukemia 45 0.439
543
OVR105 Ovarian Serous Carcinoma 37 0.426
544
URT010 Ureteral Obstruction 45 0.416
545
c PRS070 Prostate Cancer, Hereditary, 12 22 0.408
546
c PRS071 Prostate Cancer, Hereditary, 13 25 0.408
547
c PRS117 Prostate Cancer, Hereditary, 11 24 0.408
548
c PRS114 Prostate Cancer, Hereditary, 2 33 0.408
549
c PRS097 Prostate Cancer, Hereditary, 1 38 0.408
550
PRS015 Prostate Signet Ring Cell Adenocarcinoma 25 0.408
551
CRV013 Cervical Adenoid Cystic Carcinoma 33 0.408
552
GST019 Gastrointestinal Stromal Tumor 78 0.406
553
BRR014 Barrett Esophagus 66 0.404
554
c HPT001 Hepatitis C 61 0.392
555
MRG003 Marginal Zone B-Cell Lymphoma 52 0.380
556
DST001 Distal Biliary Tract Carcinoma 24 0.373
557
MLT003 Multilocular Clear Cell Renal Cell Carcinoma 32 0.373
558
PRL048 Proliferative Verrucous Leukoplakia 29 0.373
559
MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28 0.373
560
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.363
561
c ATM099 Autoimmune Uveitis 44 0.340
562
BNG091 Benign Chronic Pemphigus 56 0.340
563
P LMY004 Leiomyosarcoma 62 0.334
564
IRN008 Iron Overload in Africa 51 0.333
565
RJS001 Ruijs-Aalfs Syndrome 47 0.333
566
HPT079 Hepatoid Adenocarcinoma 39 0.333
567
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.333
568
RNL119 Renal Cell Carcinoma, Xp11-Associated 42 0.333
569
ADL096 Adult Hepatocellular Carcinoma 60 0.333
570
MTT001 Metatypical Basal Cell Carcinoma 31 0.333
571
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.333
572
PDT042 Pediatric Hepatocellular Carcinoma 50 0.333
573
FBR086 Fibrolamellar Carcinoma 59 0.333
574
HPT011 Hepatocellular Clear Cell Carcinoma 45 0.333
575
HLC007 Helicobacter Pylori Infection 67 0.325
576
SPL004 Splenic Marginal Zone Lymphoma 50 0.325
577
GST092 Gastroesophageal Reflux 60 0.310
578
MCN001 Mucinous Adenocarcinoma 49 0.310
579
P BNG030 Benign Ependymoma 51 0.310
580
RTN020 Retinal Vascular Disease 45 0.310
581
APP009 Appendix Adenocarcinoma 47 0.310
582
c CHR684 Chronic Kidney Disease 74 0.310
583
DFF016 Diffuse Astrocytoma 48 0.310
584
P THR014 Thrombocytopenia 66 0.294
585
PNC129 Pancreatic Adenocarcinoma 65 0.294
586
P BRS044 Breast Adenocarcinoma 58 0.294
587
EMB004 Embryonal Carcinoma 55 0.294
588
c BSL024 Basal Cell Carcinoma 1 54 0.289
589
c BSL034 Basal Cell Carcinoma 7 25 0.289
590
LNG117 Lung Pleomorphic Carcinoma 19 0.289
591
LNG091 Lung Mucoepidermoid Carcinoma 32 0.289
592
BSL044 Basal Cell Carcinoma, Infundibulocystic 35 0.289
593
LNG115 Lung Sarcomatoid Carcinoma 35 0.289
594
LNG011 Lung Adenoid Cystic Carcinoma 35 0.289
595
LNG017 Lung Giant Cell Carcinoma 51 0.289
596
LBL001 Lobular Neoplasia 55 0.289
597
NDL009 Nodular Basal Cell Carcinoma 40 0.289
598
PGM002 Pigmented Basal Cell Carcinoma 31 0.289
599
ANL013 Anal Margin Basal Cell Carcinoma 18 0.289
600
SBC013 Sebaceous Basal Cell Carcinoma 13 0.289
601
MCR016 Micronodular Basal Cell Carcinoma 34 0.289
602
ADM002 Adamantinoid Basal Cell Epithelioma 20 0.289
603
CLR015 Clear Cell Basal Cell Carcinoma 39 0.289
604
ADN015 Adenoid Basal Cell Carcinoma 31 0.289
605
INF027 Infiltrative Basal Cell Carcinoma 32 0.289
606
CYS004 Cystic Basal Cell Carcinoma 36 0.289
607
SRC003 Sarcomatoid Basal Cell Carcinoma 28 0.289
608
SGN001 Signet Ring Basal Cell Carcinoma 32 0.289
609
INF057 Inflammatory Linear Verrucous Epidermal Nevus 33 0.289
611
HLR002 Hilar Lung Carcinoma 23 0.289
612
LNG014 Lung Superior Sulcus Carcinoma 15 0.289
613
BSL003 Basaloid Lung Carcinoma 35 0.289
614
LNG020 Lung Oat Cell Carcinoma 51 0.289
615
P LNG035 Lung Large Cell Carcinoma 53 0.289
616
CHR177 Chromophobe Renal Cell Carcinoma 54 0.289
617
LNG006 Lung Occult Large Cell Carcinoma 14 0.289
618
c LNG001 Lung Clear Cell Carcinoma 29 0.289
619
LNG003 Lung Carcinoma in Situ 36 0.289
620
LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 19 0.289
621
DWN001 Down Syndrome 70 0.277
622
HMN047 Human Cytomegalovirus Infection 59 0.277
623
CHL068 Cholestasis 61 0.277
624
P NPH012 Nephrotic Syndrome 62 0.277
625
PDT026 Pediatric T-Cell Leukemia 9 0.277
626
ERY069 Erythrokeratoderma ''en Cocardes'' 26 0.277
627
MTN001 Metanephric Adenoma 39 0.265
628
VLV034 Vulva Squamous Cell Carcinoma 49 0.265
629
SPN009 Spindle Cell Rhabdomyosarcoma 40 0.265
630
ACC008 Accelerated Tumor Formation 20 0.259
631
P ANR048 Aniridia 1 66 0.259
632
P LPR021 Leprosy 3 71 0.259
633
c DWL002 Dowling-Degos Disease 1 58 0.259
634
P MMB011 Membranous Nephropathy 50 0.259
635
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.259
636
P PNC044 Pancreatitis 61 0.259
637
HNS001 Hansen's Disease 32 0.259
638
c HMN021 Human T-Cell Leukemia Virus Type 1 46 0.259
639
P CHN012 Chondrosarcoma 56 0.240
640
P GRF003 Graft-Versus-Host Disease 71 0.240
641
P CHL156 Childhood T-Cell Acute Lymphoblastic Leukemia 38 0.240
642
OTT002 Otitis Media 71 0.240
643
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.240
644
SCH016 Schimke Immunoosseous Dysplasia 53 0.240
645
HYP810 Hypereosinophilic Syndrome, Idiopathic 61 0.240
646
DYS018 Dysostosis 43 0.240
647
c ACT027 Acute Pancreatitis 60 0.240
648
EYL002 Eyelid Carcinoma 26 0.240
649
SBC011 Sebaceous Adenocarcinoma 43 0.240
650
c DLT002 Dilated Cardiomyopathy 79 0.240
651
P ART021 Arteriosclerosis 53 0.240
652
CRB090 Cerebral Hypoxia 42 0.240
653
ANG018 Angiomyolipoma 45 0.240
654
TRP005 Trophoblastic Neoplasm 39 0.240
655
P MSC005 Muscular Dystrophy 66 0.240
656
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 42 0.240
657
LMN016 Luminal Breast Carcinoma B 28 0.236
658
P LMN015 Luminal Breast Carcinoma a 34 0.236
659
THY124 Thyroid Gland Papillary Carcinoma 38 0.236
660
GST028 Gastric Squamous Cell Carcinoma 35 0.236
661
OVR062 Ovary Serous Adenocarcinoma 25 0.236
662
PRM126 Primary Peritoneal Carcinoma 61 0.236
663
c BRN108 Branchiootic Syndrome 1 63 0.219
664
c MCR112 Microvascular Complications of Diabetes 2 42 0.219
665
c HRD007 Hereditary Lymphedema 33 0.219
666
INT395 Intracranial Meningioma 48 0.219
667
c LYM144 Lymphatic Malformation 1 47 0.219
668
IMM167 Immune Deficiency Disease 77 0.219
669
P MCR129 Microvascular Complications of Diabetes 1 68 0.219
670
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.219
671
LNT004 Lentigines 45 0.219
672
BLR001 Biliary Atresia 55 0.219
673
CNG034 Congestive Heart Failure 69 0.219
674
KRT008 Keratopathy 46 0.219
675
KRT009 Keratosis 52 0.219
676
P ESP024 Esophagitis 60 0.219
677
P GRV001 Graves' Disease 54 0.219
678
P PLY011 Polycystic Ovary Syndrome 57 0.219
679
TRT001 Teratocarcinoma 41 0.219
680
CNS004 Constipation 56 0.219
681
P LPS002 Liposarcoma 64 0.219
682
c HRD204 Hereditary Lymphedema Ia 18 0.219
683
P MSC003 Muscular Atrophy 52 0.219
684
LMB050 Limbal Stem Cell Deficiency 50 0.219
685
PTT037 Pituitary Tumors 44 0.219
686
PDT014 Pediatric Ependymoma 28 0.219
687
ART008 Arteriosclerosis Obliterans 40 0.219
688
SCR001 Secretory Meningioma 40 0.219
689
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.219
690
END085 Endometrial Serous Adenocarcinoma 43 0.219
691
HPT022 Hepatoblastoma 54 0.219
692
c CNG439 Congenital Lymphedema 30 0.219
693
CHR072 Chordoma 57 0.196
694
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.196
695
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.196
696
FRN006 Frontotemporal Dementia 68 0.196
697
P FTL001 Fetal Alcohol Syndrome 55 0.196
698
GLC106 Glucocorticoid Resistance, Generalized 48 0.196
699
MCS002 Mucositis 55 0.196
700
P CLC063 Celiac Disease 1 66 0.196
702
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.196
703
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.196
704
c ALZ056 Alzheimer Disease 3 56 0.196
705
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.196
706
LYM007 Lymphangioleiomyomatosis 68 0.196
707
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.196
708
LTR009 Lateral Meningocele Syndrome 52 0.196
709
PCK003 Pick Disease of Brain 69 0.196
710
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.196
711
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.196
712
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.196
713
HRN029 Hearing Loss, Noise-Induced 37 0.196
714
P ACN016 Acne Inversa, Familial, 3 28 0.196
715
P PTS002 Ptosis 52 0.196
716
P PRG013 Paraganglioma 57 0.196
717
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.196
718
CRS001 Crescentic Glomerulonephritis 42 0.196
719
P MCR010 Microcephaly 59 0.196
720
END011 Endometriosis of Ovary 40 0.196
721
NPH010 Nephrosclerosis 50 0.196
722
MYF001 Myofibroma 42 0.196
723
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 0.196
724
CVR010 Cavernous Malformation 29 0.196
725
P HYP265 Hypotonia 42 0.196
726
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 68 0.196
727
P EYD002 Eye Disease 57 0.196
728
CHR176 Chromophil Renal Cell Carcinoma 23 0.196
729
AML004 Ameloblastic Carcinoma 39 0.196
730
P NRF002 Neurofibromatosis 60 0.196
731
MYP064 Myopericytoma 29 0.196
732
INH023 Inherited Cancer-Predisposing Syndrome 53 0.196
733
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56 0.170
734
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 0.170
735
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.170
736
SVR066 Severe Combined Immunodeficiency, X-Linked 65 0.170
737
MLG141 Malignant Atrophic Papulosis 35 0.170
739
CHR375 Chromosome 8p11 Myeloproliferative Syndrome 28 0.170
740
FTL006 Fetal Alcohol Spectrum Disorder 43 0.170
741
P SNS001 Sensorineural Hearing Loss 59 0.170
742
PRP080 Peripheral Artery Disease 54 0.170
743
P SCL048 Sclerosteosis 58 0.170
744
P MJR001 Major Depressive Disorder 68 0.170
745
EPC005 Epicanthus 36 0.170
746
c LFT020 Left Ventricular Noncompaction 7 19 0.170
747
c CRD093 Cardiomyopathy, Dilated, 1a 54 0.170
748
ANG046 Angioimmunoblastic T-Cell Lymphoma 51 0.170
749
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 0.170
750
HYP457 Hypertrophic Scars 42 0.170
751
CHR100 Chronic Ulcer of Skin 57 0.170
752
BRN002 Bronchiolitis 57 0.170
753
P PLC011 Pilocytic Astrocytoma 55 0.170
754
HDR003 Hidradenitis 50 0.170
755
RNL013 Renal Adenoma 29 0.170
756
P DMN002 Dementia 65 0.170
757
MNT002 Mental Depression 56 0.170
758
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.170
759
SCH014 Schistosomiasis 56 0.170
760
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 60 0.170
761
NDL007 Nodular Goiter 48 0.170
762
GTR002 Goiter 52 0.170
763
PLM010 Pulmonary Edema 54 0.170
764
BLP004 Blepharophimosis 36 0.170
765
PNL012 Penile Cancer 57 0.170
766
P LYN001 Lynch Syndrome 76 0.170
767
CRV038 Cervical Squamous Cell Carcinoma 56 0.170
768
HDR002 Hidradenitis Suppurativa 54 0.170
769
MSC157 Muscular Dystrophy, Duchenne Type 79 0.170
770
c CRD069 Cardiomyopathy, Dilated, 1h 41 0.170
771
P CHR345 Chronic Pain 50 0.170
772
PNC013 Pancreatic Ductal Carcinoma 48 0.170
773
ANX004 Anoxia 40 0.170
774
P KDN018 Kidney Disease 72 0.170
775
P 8P1002 8p11 Myeloproliferative Syndrome 35 0.170
776
CHR208 Chromosome 17p Deletion 21 0.170
777
END086 End Stage Renal Disease 54 0.170
778
c CHR064 Chronic Monocytic Leukemia 36 0.170
780
HTR003 Heterotaxy 44 0.170
781
P PRM011 Primary Ciliary Dyskinesia 69 0.170
782
P ACT008 Actinic Keratosis 54 0.170
783
P PMP001 Pemphigus 55 0.170
784
PST092 Posttransplant Acute Limbic Encephalitis 29 0.170
785
CLP005 Ciliopathy 41 0.170
786
MLG163 Malignant Tumor of Penis 29 0.170
787
c ACT134 Acute Liver Failure 57 0.170
788
c RHB021 Rhabdomyosarcoma, Embryonal, 2 23 0.167
789
PGT003 Paget Disease, Extramammary 47 0.167
790
c RHB023 Rhabdomyosarcoma, Embryonal, 1 45 0.167
791
MLN065 Melanocytic Nevus Syndrome, Congenital 61 0.167
792
ACR014 Acral Lentiginous Melanoma 52 0.167
793
CRV022 Cervix Small Cell Carcinoma 34 0.167
794
MYP002 Myoepithelial Carcinoma 46 0.167
795
OVR044 Ovarian Carcinosarcoma 46 0.167
796
END032 Endometrial Clear Cell Adenocarcinoma 33 0.167
797
CMD001 Comedo Carcinoma 37 0.167
798
ATY005 Atypical Teratoid Rhabdoid Tumor 69 0.167
799
THY123 Thyroid Gland Follicular Carcinoma 53 0.167
800
CRC021 Carcinosarcoma 62 0.167
801
EPT010 Epithelial-Myoepithelial Carcinoma 55 0.167
802
BRS033 Breast Apocrine Carcinoma in Situ 13 0.167
803
PRS008 Prostate Small Cell Carcinoma 26 0.167
804
CTS011 Cutis Marmorata Telangiectatica Congenita 34 0.139
805
INF158 Infections, Recurrent, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 30 0.139
806
RCK002 Rocky Mountain Spotted Fever 34 0.139
807
ADR016 Adrenal Cortical Carcinoma 61 0.139
808
P HYP730 Hypogonadotropic Hypogonadism 54 0.139
809
LBR036 Leber Plus Disease 67 0.139
810
P CRN024 Corneal Disease 43 0.139
811
P KRT007 Keratoconus 50 0.139
812
NRR001 Neuroretinitis 42 0.139
813
RTN017 Retinal Detachment 60 0.139
814
HPT067 Hepatocellular Adenoma 42 0.139
815
P EXN002 Exanthem 58 0.139
816
MTR088 Mature T-Cell and Nk-Cell Lymphoma 42 0.139
817
ERY003 Erythema Multiforme 56 0.139
818
FBR054 Fibroma 44 0.139
819
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 0.139
820
SVR097 Severe Cutaneous Adverse Reaction 68 0.139
821
HMN044 Human Immunodeficiency Virus Type 1 76 0.139
822
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.139
823
PTC002 Potocki-Lupski Syndrome 51 0.139
824
c RBN021 Rubinstein-Taybi Syndrome 1 57 0.139
825
P NNN008 Noonan Syndrome 1 76 0.139
826
c SPN294 Spinocerebellar Ataxia 1 53 0.139
827
c OPT053 Optic Atrophy 1 62 0.139
828
c LYS017 Loeys-Dietz Syndrome 4 50 0.139
829
c ADM008 Adams-Oliver Syndrome 3 23 0.139
830
c ADM009 Adams-Oliver Syndrome 4 25 0.139
831
BLR028 Biliary Atresia, Extrahepatic 36 0.139
832
ACT003 Acute Kidney Tubular Necrosis 46 0.139
833
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 72 0.139
834
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.139
835
DGR001 Digeorge Syndrome 62 0.139
836
BRN012 Bronchiolitis Obliterans 56 0.139
837
LVR012 Liver Cirrhosis 62 0.139
838
FBR047 Fibromyalgia 58 0.139
839
SPT005 Spotted Fever 49 0.139
840
PST028 Post-Traumatic Stress Disorder 59 0.139
841
P AGM001 Agammaglobulinemia 67 0.139
842
HYP080 Hypogonadism 49 0.139
843
P OST001 Osteopetrosis 70 0.139
844
ALC010 Alcoholic Cardiomyopathy 42 0.139
845
PRS047 Prostatitis 58 0.139
846
P EHL001 Ehlers-Danlos Syndrome 57 0.139
847
CHG001 Chagas Disease 65 0.139
848
EHR002 Ehrlichiosis 39 0.139
849
HND002 Hand, Foot and Mouth Disease 50 0.139
850
OLF005 Olfactory Neuroblastoma 46 0.139
851
TST014 Testicular Cancer 51 0.139
852
c ACT071 Acute Kidney Failure 60 0.139
853
P CRV031 Cervical Adenocarcinoma 48 0.139
854
RTN023 Retinitis 45 0.139
855
ADR004 Adrenal Cortical Adenocarcinoma 38 0.139
856
PPL018 Papillary Adenocarcinoma 44 0.139
857
SRS001 Serous Cystadenocarcinoma 51 0.139
858
NRL002 Neurilemmomatosis 52 0.139
859
c NPH055 Nephrotic Syndrome, Type 1 52 0.139
860
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.139
861
P CHR573 Choroid Plexus Cancer 48 0.139
862
NNT024 Neonatal Stroke 31 0.139
863
P LCH002 Lichen Planus 55 0.139
864
P SPN081 Spondylocostal Dysostosis, Autosomal Recessive 46 0.139
865
PRS042 Prostate Disease 42 0.139
866
ANP008 Anaplastic Oligoastrocytoma 31 0.139
867
BLR013 Biliary Tract Cancer 43 0.139
868
LNG004 Langerhans Cell Sarcoma 34 0.139
869
MTN002 Mite Infestation 35 0.139
870
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.139
871
OLG006 Oligoastrocytoma 35 0.139
872
c CHR417 Chronic Graft Versus Host Disease 55 0.139
873
GRM010 Germ Cells Tumors 33 0.139
874
OCL006 Ocular Hypertension 53 0.139
875
c PSD047 Pseudo-Turner Syndrome 52 0.139
876
RFR007 Refractory Anemia with Excess Blasts in Transformation 26 0.139
877
ERY066 Erythema Multiforme Major 29 0.139
878
MLG164 Malignant Epithelial Tumor of Ovary 24 0.139
879
TRM028 Terminal Transverse Limb Defect 10 0.139
880
BNG077 Benign Idiopathic Neonatal Seizures 22 0.139
881
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 0.139
882
P MCH002 Machado-Joseph Disease 63 0.098
883
P FNC044 Fanconi Anemia, Complementation Group C 56 0.098
884
c SPR119 Spermatogenic Failure, X-Linked, 1 36 0.098
885
FRY006 Fryns Microphthalmia Syndrome 52 0.098
886
c FNC043 Fanconi Anemia, Complementation Group E 62 0.098
887
PPL058 Papilloma of Choroid Plexus 54 0.098
888
c PRD040 Periodontitis, Chronic 52 0.098
889
P PLR004 Pleuropulmonary Blastoma 65 0.098
890
WRN001 Werner Syndrome 69 0.098
891
XRD010 Xeroderma Pigmentosum, Variant Type 72 0.098
892
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.098
893
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.098
894
PLY001 Polycythemia Vera 69 0.098
895
ART001 Arterial Tortuosity Syndrome 64 0.098
896
MYL005 Myelofibrosis 70 0.098
897
c 46X049 46,xy Sex Reversal 2 52 0.098
898
VRC005 Varicose Veins 59 0.098
899
AST006 Astigmatism 46 0.098
900
ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36 0.098
901
TBL029 Tubulin, Beta 28 0.098
902
BRK001 Brooke-Spiegler Syndrome 58 0.098
903
CRT069 Cortical Malformations, Occipital 31 0.098
904
MSC007 Muscle Hypertrophy 64 0.098
905
c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35 0.098
906
c GLC114 Glaucoma, Primary Closed-Angle 36 0.098
907
SSS001 Sessile Serrated Polyposis Cancer Syndrome 21 0.098
908
ECT110 Ectodermal Dysplasia 14, Hair/tooth Type with or Without Hypohidrosis 20 0.098
909
NRD083 Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies 24 0.098
910
c ATM104 Autoimmune Vasculitis 37 0.098
911
LWG006 Low Grade Glioma 41 0.098
912
RLP008 Relapsed/refractory Diffuse Large B-Cell Lymphoma 35 0.098
913
P PRM293 Primary Mediastinal B-Cell Lymphoma 42 0.098
914
END062 Endometrial Hyperplasia 48 0.098
915
CHR563 Chronic Eosinophilic Leukemia 48 0.098
916
P SPL061 Split Hand-Foot Malformation 42 0.098
917
PRM013 Premature Menopause 57 0.098
918
c MGR028 Migraine with or Without Aura 1 64 0.098
919
MRT001 Muir-Torre Syndrome 59 0.098
920
OBS002 Obsessive-Compulsive Disorder 68 0.098
921
ALC007 Alcohol Dependence 65 0.098
922
LYN004 Lynch Syndrome I 60 0.098
923
FLT011 Felty Syndrome 51 0.098
924
c TYP008 Type 1 Diabetes Mellitus 77 0.098
925
GST009 Gastroschisis 53 0.098
926
ENT011 Enterocolitis 55 0.098
927
JHN001 Johanson-Blizzard Syndrome 52 0.098
928
KTL001 Keutel Syndrome 41 0.098
929
APH002 Aphasia 55 0.098
930
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.098
931
P CRD119 Cardiac Arrest 68 0.098
932
ILT001 Ileitis 49 0.098
933
LYM012 Lymphoplasmacytic Lymphoma 50 0.098
934
c ART159 Aortic Valve Disease 3 21 0.098
935
c THR125 Thrombocytopenia 7 22 0.098
937
BRT054 Brittle Bone Disorder 74 0.098
938
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.098
939
JVN004 Juvenile Myelomonocytic Leukemia 67 0.098
940
INT051 Intussusception 53 0.098
941
c HYP548 Hypogonadotropic Hypogonadism 2 with or Without Anosmia 37 0.098
942
DMN031 Dementia, Lewy Body 65 0.098
943
PFF001 Pfeiffer Syndrome 77 0.098
944
P MLN066 Melanoma, Cutaneous Malignant 1 66 0.098
945
c MST023 Mesothelioma, Malignant 56 0.098
946
c SCL052 Scleroderma, Familial Progressive 60 0.098
947
P HMN032 Human Herpesvirus 8 47 0.098
948
c CNG385 Congenital Heart Defects, Multiple Types, 3 18 0.098
949
BNB002 Bainbridge-Ropers Syndrome 45 0.098
950
c