Search results for brca1

1101 hits were found for brca1

# Family MCID Name MIFTS Score
1
c OVR114 Ovarian Cancer 1 60 537.535
2
P TMR010 Tumor Predisposition Syndrome 69 375.516
3
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 372.655
4
INH023 Inherited Cancer-Predisposing Syndrome 53 372.655
5
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 67 207.137
6
c BRS110 Breast-Ovarian Cancer, Familial 1 57 172.350
7
P BRS047 Breast Cancer 97 107.567
8
P OVR042 Ovarian Cancer 88 77.229
9
P PNC035 Pancreatic Cancer 87 43.275
10
c FNC062 Fanconi Anemia, Complementation Group S 29 37.739
11
c PNC103 Pancreatic Cancer 4 24 34.869
12
P PRS040 Prostate Cancer 95 32.071
13
c FNC027 Fanconi Anemia, Complementation Group a 80 29.792
14
c BRS111 Breast-Ovarian Cancer, Familial 2 53 29.060
15
P CLR023 Colorectal Cancer 100 28.759
16
END057 Endometrial Cancer 76 28.530
17
BLT006 Bilateral Breast Cancer 48 25.923
18
c SPR009 Sporadic Breast Cancer 42 21.577
19
P GST053 Gastric Cancer 82 19.889
20
PRM126 Primary Peritoneal Carcinoma 61 19.761
21
P LNG032 Lung Cancer 98 19.508
22
FLL027 Fallopian Tube Carcinoma 66 17.456
23
BRS099 Breast Ductal Carcinoma 61 17.275
24
P RHB003 Rhabdomyosarcoma 66 16.927
25
P ADN016 Adenocarcinoma 63 16.400
26
P LYN001 Lynch Syndrome 76 16.248
27
P ATX030 Ataxia-Telangiectasia 80 16.218
28
P BLD134 Bladder Cancer 79 15.279
29
P LFR001 Li-Fraumeni Syndrome 73 13.935
30
CYS013 Cystinuria 66 13.873
31
DYS101 Dysgerminoma 43 13.804
32
PRM013 Premature Menopause 57 13.346
33
FML037 Female Breast Cancer 51 13.160
34
ADN011 Adenoid Cystic Carcinoma 68 12.674
35
P NRB001 Neuroblastoma 66 12.619
36
DCT002 Ductal Carcinoma in Situ 58 12.474
37
P NJM001 Nijmegen Breakage Syndrome 75 11.927
38
LNG039 Lung Squamous Cell Carcinoma 57 11.877
39
XRD010 Xeroderma Pigmentosum, Variant Type 72 11.704
40
DFC004 Deficiency Anemia 74 11.600
41
BLM001 Bloom Syndrome 65 11.411
42
P CWD010 Cowden Syndrome 70 11.367
43
P INS002 in Situ Carcinoma 52 11.085
44
CYS009 Cystadenoma 42 10.989
45
WRN001 Werner Syndrome 69 10.895
46
NRL016 Neural Tube Defects 80 10.867
47
P SLV026 Salivary Gland Carcinoma 59 10.787
48
OVR048 Ovarian Cystadenoma 30 10.684
49
BRS051 Breast Disease 58 10.391
50
GST103 Gastric Cancer, Hereditary Diffuse 68 10.304
51
P MCR010 Microcephaly 59 10.130
52
P SKN015 Skin Carcinoma 71 10.094
53
OVR105 Ovarian Serous Carcinoma 37 9.700
54
P EST001 Estrogen-Receptor Positive Breast Cancer 49 9.617
55
c FML353 Familial Ovarian Cancer 44 9.603
56
c FNC025 Fanconi Anemia, Complementation Group J 52 9.565
57
P ALZ034 Alzheimer Disease 87 9.531
58
EST002 Estrogen-Receptor Negative Breast Cancer 45 9.496
59
GNG008 Ganglioneuroblastoma 46 9.317
60
P CCK001 Cockayne Syndrome 67 9.306
61
c BRS049 Breast Carcinoma in Situ 50 9.079
62
OVR094 Ovarian Epithelial Cancer 39 9.045
63
HRD224 Hereditary Nonpolyposis Colon Cancer 51 9.008
64
RDD003 Riddle Syndrome 58 8.913
65
SRS001 Serous Cystadenocarcinoma 51 8.855
66
PPL018 Papillary Adenocarcinoma 44 8.801
67
P OVR049 Ovarian Disease 50 8.800
68
EWN003 Ewing Sarcoma 69 8.751
69
c CWD006 Cowden Syndrome 1 78 8.370
70
c PLM163 Palmoplantar Keratoderma, Punctate Type Ii 28 8.277
71
MLC004 Mulchandani-Bhoj-Conlin Syndrome 51 8.210
72
P MDL005 Medulloblastoma 75 8.206
73
CNV004 Canavan Disease 61 8.131
74
LBL001 Lobular Neoplasia 54 8.131
75
SKN019 Skin Melanoma 70 8.093
76
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 8.082
77
UTR024 Uterine Carcinosarcoma 58 8.011
78
P MLN069 Melanoma, Uveal 59 7.923
79
CYS014 Cystadenocarcinoma 51 7.902
80
P HYP078 Hypertrophy of Breast 41 7.770
81
MTG002 Mutagen Sensitivity 34 7.755
82
c FNC024 Fanconi Anemia, Complementation Group D1 51 7.745
83
c LKM061 Leukemia, Acute Myeloid 83 7.583
84
END085 Endometrial Serous Adenocarcinoma 43 7.490
85
TTR011 Tetraploidy 43 7.436
86
PRT035 Peritoneum Cancer 45 7.295
87
OVR059 Ovary Adenocarcinoma 49 7.230
88
HRD114 Hereditary Site-Specific Ovarian Cancer Syndrome 25 6.971
89
c DFN137 Deafness, Autosomal Dominant 13 32 6.902
90
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 6.902
91
BLY005 B-Lymphoblastic Leukemia/lymphoma with Hyperdiploidy 30 6.902
92
P MLN066 Melanoma, Cutaneous Malignant 1 65 6.678
93
PPL007 Papillary Serous Adenocarcinoma 42 6.629
94
P BRS053 Breast Fibroadenoma 48 6.458
95
c CCK007 Cockayne Syndrome B 56 6.377
96
P SCK004 Seckel Syndrome 58 6.287
97
END007 Endosalpingiosis 37 6.287
98
OVR047 Ovarian Cystadenocarcinoma 38 6.287
99
c SML038 Small Cell Cancer of the Lung 68 6.279
100
DYS002 Dysplastic Nevus Syndrome 54 6.238
101
CNC001 Cancerophobia 27 6.207
102
c PRM031 Primary Autosomal Recessive Microcephaly 55 5.919
103
UTR033 Uterine Corpus Cancer 44 5.871
104
P APL001 Aplastic Anemia 72 5.834
105
RDT005 Radiation Induced Cancer 21 5.813
106
RVL002 Ruvalcaba Syndrome 42 5.790
107
TLN003 Telangiectasis 51 5.779
108
TTH002 Tooth Agenesis 61 5.764
109
P LNG064 Lung Cancer Susceptibility 3 69 5.756
110
FLL023 Fallopian Tube Adenocarcinoma 28 5.733
111
P RTN008 Retinitis Pigmentosa 79 5.693
112
OVR044 Ovarian Carcinosarcoma 47 5.693
113
CRV014 Cervical Adenoma Malignum 34 5.693
114
SYN003 Synchronous Bilateral Breast Carcinoma 35 5.693
115
THR011 Thoracic Benign Neoplasm 31 5.596
116
OVR041 Ovarian Benign Neoplasm 32 5.596
117
NSP004 Nosophobia 24 5.596
118
c PRM023 Pre-Malignant Neoplasm 31 5.596
119
BRS046 Breast Benign Neoplasm 30 5.596
120
P PNC113 Punctate Palmoplantar Keratoderma 24 5.596
121
ATS009 Autosomal Genetic Disease 26 5.596
122
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 5.596
123
c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 49 5.596
124
PGM029 Pigmentary Disorder, Reticulate, with Systemic Manifestations, X-Linked 50 5.596
125
c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 34 5.596
126
c ATS307 Autosomal Recessive Cerebellar Ataxia 38 5.596
127
P AML002 Amelogenesis Imperfecta 56 5.596
128
INT015 Intracystic Papillary Adenoma 30 5.596
129
FML005 Female Reproductive Endometrioid Cancer 45 5.596
130
CRB027 Cerebellar Disease 47 5.596
131
P END084 Endocrine System Disease 44 5.596
132
MLG076 Malignant Ovarian Surface Epithelial-Stromal Neoplasm 27 5.596
133
OVR060 Ovary Epithelial Cancer 29 5.596
134
FLL029 Fallopian Tube Disease 43 5.596
135
OVR057 Ovarian Serous Adenofibroma 29 5.596
136
THR012 Thoracic Cancer 44 5.596
137
FLL022 Fallopian Tube Clear Cell Adenocarcinoma 30 5.596
138
FML039 Female Reproductive System Disease 37 5.596
139
DSS008 Disease of Mental Health 74 5.596
140
OVR026 Ovary Transitional Cell Carcinoma 34 5.596
141
P CNG001 Congenital Myasthenic Syndrome 68 5.596
142
OVR002 Ovarian Serous Cystadenofibroma 29 5.596
143
BSL003 Basaloid Lung Carcinoma 37 5.596
144
FML019 Familiar Ovarian Carcinoma 21 5.596
145
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 5.442
146
c FNC042 Fanconi Anemia, Complementation Group D2 54 4.571
147
BLD173 Bladder Small Cell Carcinoma 44 4.143
148
ESP021 Esophageal Cancer 84 3.983
149
GST040 Gastric Adenocarcinoma 66 3.872
150
PNC041 Pancreatic Ductal Adenocarcinoma 51 3.570
151
PNC129 Pancreatic Adenocarcinoma 64 3.558
152
P BNG032 Benign Mesothelioma 53 3.457
153
SQM006 Squamous Cell Carcinoma 59 3.415
154
P RTN024 Retinoblastoma 72 3.061
155
LYN004 Lynch Syndrome I 60 2.886
156
OVR062 Ovary Serous Adenocarcinoma 25 2.872
157
P NTR004 Neutropenia 62 2.842
159
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 2.813
160
ADN089 Adenosquamous Lung Carcinoma 51 2.813
161
CLN015 Colon Adenocarcinoma 64 2.794
162
P MLN008 Melanoma 75 2.762
163
c LFR007 Li-Fraumeni Syndrome 2 45 2.696
164
PRT036 Peritonitis 65 2.690
165
ALL029 Allergic Disease 61 2.675
166
c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 42 2.614
167
P INF032 Infertility 60 2.593
168
c MST023 Mesothelioma, Malignant 56 2.527
169
GLM045 Glioma 62 2.521
170
RNL114 Renal Cell Carcinoma, Nonpapillary 79 2.515
171
47X002 47,xyy 47 2.513
172
P FNC044 Fanconi Anemia, Complementation Group C 56 2.448
173
MNN043 Meningioma, Familial 79 2.440
174
c FNC023 Fanconi Anemia, Complementation Group N 48 2.418
176
48X005 48,xyyy 39 2.365
177
END041 Endometrial Adenocarcinoma 63 2.336
178
P LMY004 Leiomyosarcoma 62 2.328
179
INS024 Insulin-Like Growth Factor I 77 2.301
180
RPD005 Rapidly Involuting Congenital Hemangioma 48 2.278
181
CRC021 Carcinosarcoma 62 2.162
182
SVR004 Severe Combined Immunodeficiency 70 2.155
183
OST159 Osteogenic Sarcoma 66 2.153
184
GLB002 Glioblastoma 67 2.153
185
c FNC048 Fanconi Anemia, Complementation Group O 51 2.134
186
SML009 Small Intestine Adenocarcinoma 57 2.113
187
c BRS098 Breast-Ovarian Cancer, Familial 4 29 2.106
188
P OLG002 Oligodendroglioma 66 2.060
189
THY029 Thyroid Carcinoma 55 2.054
190
MLG079 Malignant Pleural Mesothelioma 42 2.031
191
HYP266 Hypoxia 56 2.031
192
P END044 Endometriosis 62 1.991
193
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 59 1.981
194
c CLR087 Colorectal Cancer 12 34 1.981
195
AGN016 Aging 53 1.976
196
P LKM002 Leukemia 65 1.968
197
P MYL006 Myeloid Leukemia 60 1.967
198
MMM006 Mammographic Density 39 1.938
199
P PNC044 Pancreatitis 61 1.930
200
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 42 1.907
201
P LYM118 Lymphoma 66 1.904
202
SRC014 Sarcoma 64 1.891
203
SPN035 Spindle Cell Sarcoma 51 1.883
204
c WLM018 Wilms Tumor 5 53 1.841
205
HLX001 Helix Syndrome 47 1.767
206
CRV035 Cervical Cancer 72 1.767
207
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.740
208
P HNT016 Huntington Disease 73 1.735
209
P THR014 Thrombocytopenia 66 1.711
210
SFT003 Soft Tissue Sarcoma 43 1.710
211
P FML011 Familial Adenomatous Polyposis 70 1.707
212
DWN001 Down Syndrome 70 1.699
213
PPL022 Papilloma 53 1.697
214
c FNC029 Fanconi Anemia, Complementation Group I 55 1.694
215
c WLM013 Wilms Tumor 1 65 1.689
216
BP1002 Bap1 Tumor Predisposition Syndrome 42 1.668
217
c LFR009 Li-Fraumeni Syndrome 1 32 1.658
218
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 1.645
219
SKN022 Skin Squamous Cell Carcinoma 53 1.645
220
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 1.645
221
ATS010 Autosomal Recessive Disease 42 1.592
222
c FNC028 Fanconi Anemia, Complementation Group L 46 1.592
223
P ANR048 Aniridia 1 66 1.584
224
P LMN015 Luminal Breast Carcinoma a 35 1.582
225
LMN016 Luminal Breast Carcinoma B 29 1.582
226
THY124 Thyroid Gland Papillary Carcinoma 38 1.582
227
P NSP012 Nasopharyngeal Carcinoma 60 1.577
228
P NRF002 Neurofibromatosis 60 1.570
229
PTN004 Patent Ductus Venosus 31 1.564
230
P KDN017 Kidney Cancer 60 1.514
231
LNG031 Lung Benign Neoplasm 51 1.509
232
ANG020 Angiosarcoma 63 1.500
233
CHL065 Cholangiocarcinoma 57 1.487
234
INT079 Intrahepatic Cholangiocarcinoma 51 1.487
235
SQM002 Squamous Cell Papilloma 45 1.480
236
MYL069 Myeloma, Multiple 76 1.457
237
c FNC032 Fanconi Anemia, Complementation Group B 48 1.452
238
c BSL007 Basal Cell Carcinoma 67 1.423
239
P HPT023 Hepatocellular Carcinoma 95 1.420
240
PPL002 Papillary Carcinoma 46 1.420
241
P DFF019 Diffuse Gastric Cancer 50 1.413
242
c MSM022 Mismatch Repair Cancer Syndrome 1 69 1.409
243
PRM329 Premature Aging 36 1.398
244
GLL048 Glial Tumor 51 1.387
245
SQM013 Squamous Cell Carcinoma, Head and Neck 75 1.381
246
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 1.362
247
c PRS097 Prostate Cancer, Hereditary, 1 38 1.358
248
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 1.335
249
c PRS114 Prostate Cancer, Hereditary, 2 33 1.332
250
LYM133 Lymphoma, Hodgkin, Classic 69 1.316
251
c NRB010 Neuroblastoma 1 59 1.306
252
CRN036 Craniopharyngioma 63 1.306
253
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 38 1.306
254
c XRD023 Xeroderma Pigmentosum, Complementation Group G 53 1.306
255
LYM002 Lymphoplasmacyte-Rich Meningioma 35 1.306
256
SCR001 Secretory Meningioma 40 1.306
257
TBL003 Tubular Adenocarcinoma 40 1.306
258
INT395 Intracranial Meningioma 47 1.306
259
P GLM040 Glioma Susceptibility 1 70 1.302
260
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.297
261
c FNC043 Fanconi Anemia, Complementation Group E 62 1.297
262
ADN018 Adenoma 58 1.297
263
MLG164 Malignant Epithelial Tumor of Ovary 24 1.287
264
RHB024 Rhabdomyosarcoma 2 65 1.252
265
MSC007 Muscle Hypertrophy 64 1.244
266
P BCL017 B-Cell Lymphoma 57 1.237
267
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 44 1.233
268
END002 Endometrioid Ovary Carcinoma 53 1.231
269
P TCD001 Tic Disorder 50 1.209
270
PTZ001 Peutz-Jeghers Syndrome 69 1.202
271
ACN001 Acinar Cell Carcinoma 44 1.202
272
CLR030 Clear Cell Renal Cell Carcinoma 53 1.202
273
CNS004 Constipation 56 1.184
274
GYN001 Gynecomastia 48 1.175
275
c FNC046 Fanconi Anemia, Complementation Group P 49 1.171
276
P BNG013 Benign Breast Phyllodes Tumor 35 1.171
277
c PRS070 Prostate Cancer, Hereditary, 12 22 1.163
278
c PRS071 Prostate Cancer, Hereditary, 13 25 1.163
279
c PRS117 Prostate Cancer, Hereditary, 11 24 1.163
280
LVR002 Liver Angiosarcoma 42 1.163
281
P BLD062 Bile Duct Cancer 69 1.163
282
LNG012 Lung Occult Squamous Cell Carcinoma 20 1.163
283
PRS015 Prostate Signet Ring Cell Adenocarcinoma 25 1.163
284
DST001 Distal Biliary Tract Carcinoma 24 1.163
285
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 20 1.163
286
NNN007 Non-Involuting Congenital Hemangioma 40 1.163
287
KPS002 Kaposiform Hemangioendothelioma 50 1.163
288
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 1.157
289
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 1.157
290
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 1.157
291
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 1.157
292
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 1.157
293
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 1.157
294
c THY109 Thyroid Cancer, Nonmedullary, 1 55 1.157
295
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 1.157
296
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 1.157
297
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 1.157
298
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 1.157
299
c PRM212 Primary Microcephaly 40 1.146
300
THY006 Thymus Lymphoma 27 1.136
301
c ACT073 Acute Leukemia 59 1.136
302
c GLM043 Glioma Susceptibility 9 30 1.134
303
c GLM025 Glioma Susceptibility 2 30 1.134
304
c GLM047 Glioma Susceptibility 3 32 1.134
305
P LNG021 Lung Occult Small Cell Carcinoma 20 1.134
306
LNG019 Lung Combined Type Small Cell Carcinoma 34 1.134
307
PPL004 Papillary Squamous Carcinoma 39 1.134
308
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 1.134
309
P TRN020 Turner Syndrome 67 1.120
310
c ACT027 Acute Pancreatitis 60 1.120
311
MYL009 Myelodysplastic Syndrome 67 1.105
312
ATH013 Atherosclerosis Susceptibility 63 1.105
313
c ATX040 Ataxia-Telangiectasia-Like Disorder 1 50 1.097
314
c DWL002 Dowling-Degos Disease 1 58 1.094
315
BRN028 Brain Cancer 73 1.082
316
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 1.082
317
c LKM005 Leukemia, T-Cell, Chronic 33 1.082
318
PLY100 Polyploidy 36 1.082
319
P BRS044 Breast Adenocarcinoma 58 1.071
320
EPT021 Epithelial Recurrent Erosion Dystrophy 45 1.067
321
GST019 Gastrointestinal Stromal Tumor 78 1.061
322
P SPR120 Supranuclear Palsy, Progressive, 1 68 1.059
323
P MLT074 Multiple Endocrine Neoplasia 58 1.059
324
CRT033 Corticobasal Degeneration 48 1.059
325
MST005 Mastitis 52 1.058
326
KRT009 Keratosis 52 1.046
327
HMN044 Human Immunodeficiency Virus Type 1 76 1.034
328
P TRT010 Teratoma 50 1.034
329
HRD223 Hereditary Melanoma 38 1.034
330
c ATR087 Atrial Standstill 1 74 1.020
331
MMM001 Mammary Paget's Disease 53 1.020
332
P PRP019 Peripheral Nervous System Disease 57 0.992
333
ISC004 Ischemia 61 0.992
334
P NRP001 Neuropathy 59 0.992
335
MCS002 Mucositis 55 0.977
336
CRB004 Cerebral Artery Occlusion 45 0.977
337
ARG004 Argyria 26 0.977
338
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 0.970
339
ANT039 Antisynthetase Syndrome 55 0.970
340
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.970
341
ANX010 Anxiety 70 0.961
342
MRK001 Merkel Cell Carcinoma 64 0.960
343
c INF023 Inflammatory Breast Carcinoma 48 0.945
344
DYS017 Dysgerminoma of Ovary 37 0.945
345
c PCH010 Pachyonychia Congenita 3 43 0.940
346
NRN001 Neuroendocrine Carcinoma 47 0.940
347
APP009 Appendix Adenocarcinoma 47 0.929
348
BRS007 Breast Malignant Phyllodes Tumor 45 0.927
349
DPR016 Depression 64 0.927
350
c BRS088 Breast-Ovarian Cancer, Familial 3 24 0.919
351
c LKM063 Leukemia, Chronic Myeloid 70 0.919
352
P CLR037 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 49 0.909
353
P OST002 Osteoporosis 76 0.887
354
BRS015 Breast Medullary Carcinoma 26 0.887
355
P ACN011 Acne 55 0.887
356
P SPP010 Suppressor of Tumorigenicity 3 50 0.886
357
P LKM071 Leukemia, Chronic Lymphocytic 74 0.886
358
VCC001 Vaccinia 49 0.875
359
TRN018 Transitional Cell Carcinoma 56 0.875
360
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.864
361
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.864
362
ORL015 Oral Squamous Cell Carcinoma 43 0.863
363
LMB062 Limb Ischemia 55 0.863
364
PNC001 Pancytopenia 52 0.863
365
P RRT020 Rare Tumor 39 0.863
366
LYM143 Lymphoma, Non-Hodgkin, Familial 74 0.850
367
NJM002 Nijmegen Breakage Syndrome-Like Disorder 39 0.850
368
TNG007 Tongue Carcinoma 55 0.850
369
c PNC108 Pancreatitis, Hereditary 68 0.837
370
LYM040 Lymphoblastic Lymphoma 53 0.837
371
P MYP004 Myopathy 67 0.837
372
LKP003 Leukoplakia 39 0.837
373
P ADL017 Adult T-Cell Leukemia 53 0.824
374
THR024 Thrombosis 56 0.824
375
RCT020 Rectum Adenocarcinoma 48 0.824
376
P OVR010 Ovarian Brenner Tumor 39 0.824
377
INF021 Infant Gynecomastia 30 0.824
378
MYL020 Myelomeningocele 51 0.810
379
ANN002 Anencephaly 57 0.810
380
NLX003 Neu-Laxova Syndrome 2 47 0.810
381
P OVR046 Ovarian Cyst 43 0.810
382
P MSC005 Muscular Dystrophy 66 0.810
383
c NRF024 Neurofibromatosis, Type I 76 0.796
384
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.796
385
DFF005 Diffuse Large B-Cell Lymphoma 55 0.796
386
END011 Endometriosis of Ovary 40 0.796
387
P LTR001 Lateral Sclerosis 57 0.796
388
MLG053 Malignant Ovarian Brenner Tumor 29 0.796
389
OVR012 Ovarian Serous Cystadenocarcinoma 55 0.796
390
c PRS130 Prostate Cancer, Hereditary, 8 32 0.792
391
c PRS136 Prostate Cancer, Hereditary, 6 33 0.792
392
PRS047 Prostatitis 57 0.792
393
P PRS038 Personality Disorder 65 0.792
394
MXD023 Mixed Cell Type Cancer 44 0.792
395
LRG014 Large Cell Neuroendocrine Carcinoma 44 0.781
396
c CLR041 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 36 0.781
397
P GLL018 Gallbladder Cancer 59 0.781
398
ALC005 Alcoholic Pancreatitis 38 0.781
399
LMY002 Leiomyoma 51 0.781
400
END062 Endometrial Hyperplasia 47 0.781
401
P INT070 Intestinal Obstruction 57 0.781
402
P THL005 Thalassemia 56 0.781
403
P ALP008 Alopecia 53 0.781
404
ACT162 Acute Sensory Ataxic Neuropathy 24 0.781
405
MLN065 Melanocytic Nevus Syndrome, Congenital 62 0.780
406
END032 Endometrial Clear Cell Adenocarcinoma 33 0.780
407
WLL001 Williams-Beuren Syndrome 60 0.765
408
c CCK008 Cockayne Syndrome a 59 0.765
409
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 0.765
410
MNT001 Mantle Cell Lymphoma 65 0.765
411
CRV038 Cervical Squamous Cell Carcinoma 56 0.765
412
P GST044 Gastritis 55 0.765
413
GLC003 Glucose Intolerance 53 0.765
414
CRV002 Cervix Uteri Carcinoma in Situ 48 0.765
415
CRV045 Cervical Intraepithelial Neoplasia 38 0.765
416
ANX004 Anoxia 40 0.765
417
ACT119 Acute Promyelocytic Leukemia 62 0.749
418
c XRD021 Xeroderma Pigmentosum, Complementation Group E 45 0.749
419
PCK003 Pick Disease of Brain 70 0.749
420
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58 0.749
421
FRN006 Frontotemporal Dementia 68 0.749
422
P PRK039 Parkinsonism 55 0.749
423
CLR109 Colorectal Adenocarcinoma 50 0.749
424
P RCT021 Rectum Cancer 54 0.749
425
c DLT002 Dilated Cardiomyopathy 79 0.749
426
CLF001 Cleft Lip 54 0.749
427
CLT003 Colitis 63 0.731
428
STR067 Stroke, Ischemic 79 0.731
429
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 42 0.731
430
P TYS001 Tay-Sachs Disease 69 0.731
431
P MYS005 Myositis 55 0.731
432
AMN001 Amenorrhea 53 0.731
433
P PLY011 Polycystic Ovary Syndrome 57 0.731
434
PLM014 Pleomorphic Adenoma 51 0.731
435
OCL022 Ocular Melanoma 54 0.731
436
CHL061 Childhood Leukemia 47 0.731
437
P HYP076 Hyperthyroidism 53 0.731
438
CLF004 Cleft Lip/palate 56 0.731
439
CYS001 Cystic Fibrosis 77 0.712
440
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.712
441
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 0.712
442
MSC157 Muscular Dystrophy, Duchenne Type 78 0.712
443
ALC007 Alcohol Dependence 65 0.712
444
SPP011 Suppression of Tumorigenicity 12 61 0.712
445
LMY014 Leiomyoma, Uterine 55 0.712
446
IMM167 Immune Deficiency Disease 76 0.712
447
P GLN011 Glanzmann Thrombasthenia 1 66 0.712
448
IMM165 Immunoglobulin Switch Sequences 14 0.712
449
CLF027 Cleft Palate, Isolated 64 0.712
450
c RTN041 Retinitis Pigmentosa 11 43 0.712
451
LYM012 Lymphoplasmacytic Lymphoma 50 0.712
452
PLM009 Pleomorphic Adenoma Carcinoma 33 0.712
453
c LRG001 Large Cell Carcinoma 48 0.712
454
CNG034 Congestive Heart Failure 69 0.712
455
ALC006 Alcoholic Hepatitis 61 0.712
456
CLF056 Cleft Lip with or Without Cleft Palate 43 0.712
457
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.712
458
THR035 Thrombasthenia 48 0.712
459
ALX002 Alexithymia 36 0.691
460
TNG009 Tongue Squamous Cell Carcinoma 43 0.691
461
VRL003 Variola Major 43 0.691
462
SZR028 Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome 36 0.691
463
c FNC057 Fanconi Anemia, Complementation Group U 42 0.691
464
c DFN097 Deafness, Autosomal Recessive 1a 49 0.691
465
P FRG001 Fragile X Syndrome 70 0.691
466
MND023 Mend Syndrome 49 0.691
467
MLN047 Melanoma-Pancreatic Cancer Syndrome 30 0.691
468
THY111 Thyroid Carcinoma, Familial Medullary 67 0.691
469
PRL017 Prolymphocytic Leukemia 47 0.691
470
P LRY044 Larynx Cancer 53 0.691
471
ANS011 Anus Cancer 55 0.691
472
BRS056 Breast Metaplastic Carcinoma 44 0.691
473
THY125 Thyroid Gland Medullary Carcinoma 48 0.691
474
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 30 0.691
475
SML019 Smallpox 55 0.691
476
DFN038 Dfnb1 35 0.691
477
GNT162 Genetic Non-Acquired Premature Ovarian Failure 8 0.691
478
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.691
479
P PRG013 Paraganglioma 57 0.668
480
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.668
481
BSL036 Basal Cell Nevus Syndrome 73 0.668
482
c XRD030 Xeroderma Pigmentosum, Complementation Group C 55 0.668
483
c PNC111 Pancreatic Cancer 2 26 0.668
484
ADN027 Adenomyosis 59 0.668
485
END075 Endocervical Adenocarcinoma 37 0.668
486
P MLN007 Male Infertility 56 0.668
487
MCN008 Mucinous Cystadenocarcinoma 37 0.668
488
MSN004 Mesenchymal Cell Neoplasm 42 0.668
489
ADN009 Adenosquamous Carcinoma 49 0.668
490
PRC013 Pericarditis 53 0.668
491
NRF007 Neurofibroma 63 0.668
492
STM007 Stomatitis 52 0.668
493
PTT037 Pituitary Tumors 44 0.668
494
SPT007 Spitz Nevus 34 0.668
495
P INF038 Influenza 68 0.657
496
LPM012 Lipomatosis, Multiple 59 0.642
497
P MLT020 Multiple Sclerosis 79 0.642
498
P USH001 Usher Syndrome 63 0.642
499
P EXN002 Exanthem 58 0.642
500
BLL001 Baller-Gerold Syndrome 58 0.642
501
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 0.642
502
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 0.642
503
HYP020 Hyperprolactinemia 63 0.642
504
c PLM128 Pulmonary Hypertension, Primary, 2 28 0.642
505
c HYP836 Hypercholesterolemia, Familial, 1 73 0.642
506
PLM005 Pleomorphic Lipoma 39 0.642
507
HYP060 Hyperinsulinism 53 0.642
508
PST028 Post-Traumatic Stress Disorder 58 0.642
509
SKN005 Skin Atrophy 41 0.642
510
OLG022 Oligoasthenoteratozoospermia 36 0.642
511
CLR012 Clear Cell Adenofibroma 29 0.642
512
CYS015 Cystadenofibroma 28 0.642
513
c FML021 Familial Hypercholesterolemia 71 0.642
514
MYM001 Myoma 54 0.642
515
MCP006 Mucoepidermoid Carcinoma 48 0.642
516
HYP043 Hyperandrogenism 47 0.642
517
P HYD006 Hydrocephalus 62 0.642
518
OBS004 Obstructive Hydrocephalus 44 0.642
519
GT001 Gout 63 0.642
520
MCN022 Mucinous Cystadenocarcinoma of the Pancreas 24 0.642
521
DFF036 Differentiated Thyroid Carcinoma 51 0.642
522
GRW007 Growth Hormone Deficiency 47 0.642
523
CRN311 Coronary Ostial Stenosis or Atresia 18 0.642
524
BNG077 Benign Idiopathic Neonatal Seizures 23 0.642
525
LTN004 Late-Onset Retinal Degeneration 59 0.611
526
PGT003 Paget Disease, Extramammary 48 0.611
527
P PLR004 Pleuropulmonary Blastoma 65 0.611
528
c PNC095 Pancreatic Cancer 3 22 0.611
529
c HRM009 Hermansky-Pudlak Syndrome 6 46 0.611
530
STH001 Saethre-Chotzen Syndrome 65 0.611
531
P BND020 Bone Disease 60 0.611
532
P PLY014 Polycystic Kidney Disease 71 0.611
533
P CRN037 Craniosynostosis 67 0.611
534
c ATM011 Autoimmune Hepatitis 62 0.611
535
P CYS017 Cystic Teratoma 41 0.611
536
c BRD011 Bardet-Biedl Syndrome 10 49 0.611
537
GLY012 Glycogen-Rich Clear Cell Breast Carcinoma 21 0.611
538
c MLG081 Malignant Teratoma 37 0.611
539
MTR010 Mature Teratoma 40 0.611
540
P HYP086 Hypothyroidism 68 0.611
541
P CND004 Candidiasis 57 0.611
542
HDR004 Hidradenoma 37 0.611
543
P ART023 Arthropathy 59 0.611
544
MCR019 Microglandular Adenosis 44 0.611
545
GLL017 Gallbladder Adenocarcinoma 42 0.611
546
LNG099 Lung Disease 62 0.611
547
TRT005 Teratoma with Malignant Transformation 16 0.611
548
BCK006 Back Pain 43 0.611
549
EMB002 Embryoma 37 0.571
550
MNN001 Meningeal Melanocytoma 38 0.571
551
P FNG006 Feingold Syndrome 1 61 0.560
552
PLY161 Polymicrogyria, Bilateral Perisylvian, X-Linked 42 0.560
553
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 54 0.560
554
HYP781 Hypoascorbemia 52 0.560
555
P MCR384 Microcephaly, Epilepsy, and Diabetes Syndrome 1 41 0.560
556
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.560
557
GLS018 Glass Syndrome 60 0.560
558
ACT011 Acute Contagious Conjunctivitis 41 0.560
559
P CNJ013 Conjunctivitis 66 0.560
560
KRT002 Keratomalacia 54 0.560
561
PLS009 Plasma Cell Neoplasm 64 0.560
562
LYM019 Lymphosarcoma 46 0.560
563
AND005 Androgen Insensitivity Syndrome, Mild 21 0.560
564
MTY003 Mutyh Polyposis 39 0.542
565
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 60 0.533
566
MYH016 Myh-Associated Polyposis 39 0.524
567
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.517
568
CNT019 Central Neurocytoma 46 0.504
569
c FML347 Familial Adenomatous Polyposis 2 56 0.487
570
P ATT003 Attenuated Familial Adenomatous Polyposis 57 0.487
571
c MJR022 Major Affective Disorder 8 37 0.473
572
c MJR024 Major Affective Disorder 9 40 0.473
573
INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 40 0.473
574
c PRS081 Prostate Cancer, Hereditary, 9 17 0.473
575
P ANP001 Anaplastic Large Cell Lymphoma 59 0.473
576
P BPL003 Bipolar Disorder 56 0.473
577
FSC004 Fasciitis 49 0.473
578
URC003 Urachal Adenocarcinoma 31 0.473
579
HPT070 Hepatosplenic T-Cell Lymphoma 35 0.380
580
P OVR106 Ovarian Clear Cell Carcinoma 42 0.377
581
BLR013 Biliary Tract Cancer 43 0.351
582
ORL011 Oral Cancer 60 0.351
583
VNH007 Von Hippel-Lindau Syndrome 72 0.337
584
APC006 Apc-Associated Polyposis Conditions 22 0.337
585
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.323
586
c THY107 Thymoma, Familial 42 0.323
587
P LKM062 Leukemia, Acute Lymphoblastic 69 0.323
588
P THY023 Thymoma 64 0.323
589
c FML346 Familial Adenomatous Polyposis 1 65 0.308
590
P TBR001 Tuberous Sclerosis 69 0.308
591
P CRN300 Coronary Heart Disease 1 73 0.292
592
P PTS002 Ptosis 52 0.292
593
HMC014 Homocysteinemia 52 0.292
594
c CLR039 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 40 0.292
595
P PRT096 Peritoneal Mesothelioma 49 0.292
596
JNS007 Jansen-De Vries Syndrome 28 0.275
597
NRN004 Neuroendocrine Tumor 55 0.275
598
PNN001 Panniculitis 52 0.275
599
PNC015 Pancreatic Acinar Cell Adenocarcinoma 40 0.275
600
ACN026 Acinar Cell Carcinoma of Pancreas 28 0.275
601
P MRR011 Mirror Movements 1 51 0.258
602
BRT002 Birt-Hogg-Dube Syndrome 64 0.258
603
P HRT032 Heart Disease 84 0.258
604
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.238
605
c XRD022 Xeroderma Pigmentosum, Complementation Group D 56 0.238
606
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.238
608
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.238
609
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 43 0.238
610
P THR015 Thrombophilia 51 0.238
611
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.238
612
EST007 Estrogen Resistance 41 0.218
613
c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 41 0.218
614
PLM026 Pilomatrixoma 57 0.218
615
SVR001 Severe Acute Respiratory Syndrome 68 0.218
616
P ADN017 Adenofibroma 33 0.218
617
MYF001 Myofibroma 42 0.218
618
LRY018 Laryngeal Squamous Cell Carcinoma 47 0.218
619
TST014 Testicular Cancer 51 0.218
620
P EMR001 Emery-Dreifuss Muscular Dystrophy 62 0.218
621
AZS001 Azoospermia 45 0.218
622
P DMN002 Dementia 65 0.218
623
AMP013 Ampulla of Vater Cancer 42 0.218
624
c FML053 Familial Colorectal Cancer 48 0.218
625
NNT049 Nontuberculous Mycobacterial Lung Disease 47 0.218
626
SXL003 Sexual Disorder 49 0.195
627
TRP003 Triple-Receptor Negative Breast Cancer 26 0.195
628
c FNC052 Fanconi Anemia, Complementation Group T 41 0.195
629
P SML001 Small Cell Carcinoma 52 0.195
630
c FNC058 Fanconi Anemia, Complementation Group R 43 0.195
631
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.195
632
ADR016 Adrenal Cortical Carcinoma 61 0.195
633
c FNC047 Fanconi Anemia, Complementation Group Q 47 0.195
634
BLB005 Beaulieu-Boycott-Innes Syndrome 41 0.195
635
P PHC003 Pheochromocytoma 70 0.195
636
P GCH001 Gaucher's Disease 69 0.195
637
P ALC033 Alcohol Use Disorder 67 0.195
638
INT020 Intravenous Leiomyomatosis 35 0.195
639
LMY003 Leiomyomatosis 43 0.195
640
c HPT016 Hepatitis B 62 0.195
641
HGH043 High Grade Glioma 46 0.195
642
CVD001 Covid-19 59 0.195
643
SRT002 Sertoli Cell Tumor 38 0.195
644
ULC004 Ulcerative Colitis 74 0.195
645
RFR009 Refractory Cytopenia with Multilineage Dysplasia 30 0.195
646
LTH036 Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 17 0.195
647
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.169
648
NRD052 Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures 24 0.169
649
FBR054 Fibroma 44 0.169
650
MRT001 Muir-Torre Syndrome 59 0.169
651
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 0.169
652
c TYP009 Type 2 Diabetes Mellitus 91 0.169
653
FMR004 Fumarase Deficiency 52 0.169
654
c FNC056 Fanconi Anemia, Complementation Group V 38 0.169
655
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.169
656
P CHN012 Chondrosarcoma 56 0.169
657
KPS004 Kaposi Sarcoma 76 0.169
658
P JVN014 Juvenile Polyposis Syndrome 65 0.169
659
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 56 0.169
660
WRS002 Warsaw Breakage Syndrome 47 0.169
661
c NRF023 Neurofibromatosis, Type Ii 70 0.169
662
c EXS019 Exostoses, Multiple, Type I 54 0.169
663
PRS129 Prostatic Hyperplasia, Benign 48 0.169
664
MLG169 Malignant Astrocytoma 57 0.169
665
PRP030 Purpura 54 0.169
666
P FBR017 Fibrosarcoma 55 0.169
667
PLM029 Palmoplantar Keratosis 48 0.169
668
c MLG084 Malignant Fibrous Histiocytoma 62 0.169
669
P HYP730 Hypogonadotropic Hypogonadism 57 0.169
670
MCS004 Mucosal Melanoma 46 0.169
671
LYM027 Lymphopenia 56 0.169
672
SRC001 Sarcomatoid Mesothelioma 31 0.169
673
PRS021 Prostatic Adenoma 43 0.169
674
HMT002 Hematologic Cancer 61 0.169
675
EMB004 Embryonal Carcinoma 55 0.169
676
PRS045 Prostatic Hypertrophy 53 0.169
677
EST004 Estrogen Excess 37 0.169
678
TST004 Testicular Lymphoma 38 0.169
679
P ART022 Arthritis 70 0.169
680
MLG077 Malignant Peripheral Nerve Sheath Tumor 53 0.169
681
P SLP003 Salpingitis 39 0.169
682
P MSC003 Muscular Atrophy 52 0.169
683
OST012 Osteoarthritis 77 0.169
684
FBR019 Fibromatosis 44 0.169
685
UTR043 Uterine Sarcoma 40 0.169
686
c MLG002 Malignant Peritoneal Mesothelioma 42 0.169
687
CHR178 Chromosomal Triplication 33 0.169
688
FMR011 Fumarate Hydratase Deficiency 39 0.169
689
WRS003 Warsaw Syndrome 12 0.169
690
DWR001 Dwarfism 44 0.169
691
P INH011 Inherited Bone Marrow Failure Syndromes 33 0.169
692
HYP264 Hypertonia 35 0.169
693
SPN186 Spinal Cord Injury 60 0.169
694
P RNG032 Ring Chromosome 39 0.169
695
CNG501 Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 32 0.138
696
c SPR131 Spermatogenic Failure 28 23 0.138
697
INT330 Intellectual Developmental Disorder with Hypertelorism and Distinctive Facies 18 0.138
698
c AMY088 Amyotrophic Lateral Sclerosis 3 33 0.138
699
P CRN038 Carney Complex Variant 63 0.138
700
ASP007 Aspiration Pneumonia 49 0.138
701
P INF037 Inflammatory Bowel Disease 53 0.138
702
P RHM011 Rheumatoid Arthritis 81 0.138
703
SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 47 0.138
704
ART140 Arteries, Anomalies of 52 0.138
705
WLF002 Wolf-Hirschhorn Syndrome 57 0.138
706
P FML018 Familial Mediterranean Fever 73 0.138
707
LRN002 Laron Syndrome 62 0.138
708
c BRN108 Branchiootic Syndrome 1 63 0.138
710
c XRD031 Xeroderma Pigmentosum, Complementation Group F 55 0.138
711
SRC027 Sarcoma, Synovial 58 0.138
712
LPP008 Lipoprotein Quantitative Trait Locus 65 0.138
713
DSS032 Disease by Infectious Agent 55 0.138
714
c CHL119 Cholangitis, Primary Sclerosing 57 0.138
715
P OCL002 Oculocutaneous Albinism 59 0.138
716
c ALB021 Albinism, Oculocutaneous, Type Ii 58 0.138
717
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.138
718
c CNG415 Congenital Disorder of Glycosylation, Type Ia 58 0.138
719
P HYP750 Hypertriglyceridemia, Familial 61 0.138
720
ISV001 Isovaleric Acidemia 54 0.138
721
P MYM013 Moyamoya Disease 1 59 0.138
722
ALP103 Alpha-1-Antitrypsin Deficiency 67 0.138
723
P MYC084 Mycobacterium Tuberculosis 1 68 0.138
724
GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 33 0.138
725
c CRN217 Craniosynostosis 3 26 0.138
726
ACC008 Accelerated Tumor Formation 20 0.138
727
P PRK057 Parkinson Disease, Late-Onset 79 0.138
728
INC002 Inclusion Body Myositis 56 0.138
729
HRW001 Hair Whorl 35 0.138
730
c CRN277 Craniosynostosis 2 37 0.138
731
ADR040 Adrenal Gland Pheochromocytoma 45 0.138
732
CMB007 Combined Immunodeficiency 56 0.138
733
BNR002 Bone Resorption Disease 47 0.138
734
P RSP003 Respiratory Failure 73 0.138
735
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 53 0.138
736
P FLL037 Follicular Lymphoma 66 0.138
737
BRR014 Barrett Esophagus 66 0.138
738
THR004 Thrombocytosis 52 0.138
739
HYP080 Hypogonadism 49 0.138
740
P DYS007 Dyskeratosis Congenita 66 0.138
741
P DRR001 Diarrhea 55 0.138
742
c BRD014 Bardet-Biedl Syndrome 2 53 0.138
743
CLL003 Cellulitis 53 0.138
744
P CRV031 Cervical Adenocarcinoma 48 0.138
745
P DYS005 Dyslexia 40 0.138
746
c CHR099 Chronic Salpingitis 24 0.138
747
LPD008 Lipid Metabolism Disorder 61 0.138
748
THY020 Thyroid Hyalinizing Trabecular Adenoma 19 0.138
749
c PST022 Posterior Uveal Melanoma 41 0.138
750
P PNM007 Pneumonia 64 0.138
751
P HPT021 Hepatitis 68 0.138
752
P MTR014 Motor Neuron Disease 65 0.138
753
P SCL009 Sclerosing Cholangitis 46 0.138
754
P URN019 Urinary Tract Infection 48 0.138
755
ISL001 Islet Cell Tumor 55 0.138
756
P EPL164 Epilepsy 70 0.138
757
c VRL010 Viral Hepatitis 52 0.138
758
MCN001 Mucinous Adenocarcinoma 49 0.138
759
HMG005 Hemoglobinopathy 55 0.138
760
BRS004 Breast Angiosarcoma 36 0.138
761
P AGN002 Agnosia 53 0.138
762
INS001 Insulinoma 59 0.138
763
ADR004 Adrenal Cortical Adenocarcinoma 38 0.138
764
P ADL010 Adult Respiratory Distress Syndrome 70 0.138
765
CDQ001 Cauda Equina Syndrome 37 0.138
766
GST033 Gestational Diabetes 60 0.138
767
MCR013 Microphthalmia 59 0.138
768
OLG001 Oligospermia 45 0.138
769
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.138
770
ADN001 Adenosine Deaminase Deficiency 59 0.138
771
CHR074 Choriocarcinoma 46 0.138
772
PLC008 Placenta Disease 48 0.138
773
P FBR003 Fibrous Histiocytoma 43 0.138
774
P DBT009 Diabetes Mellitus 67 0.138
775
ORP003 Oropharynx Cancer 54 0.138
776
FND002 Fundus Dystrophy 54 0.138
777
P CHL066 Cholangitis 51 0.138
778
MSL001 Measles 61 0.138
779
ALB002 Albinism 46 0.138
780
HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 61 0.138
781
P SCK005 Sickle Cell Disease 56 0.138
782
c RNG020 Ring Chromosome 4 31 0.138
783
P HRP006 Herpes Simplex 65 0.138
784
P CRB059 Cerebellar Degeneration 36 0.138
785
NTH004 Nthl1 Tumor Syndrome 9 0.138
786
c MNS014 Monosomy 22 34 0.138
787
GNR035 Generalized Juvenile Polyposis/juvenile Polyposis Coli 43 0.138
788
P ENC018 Encephalopathy 62 0.138
789
FML211 Familial Papillary or Follicular Thyroid Carcinoma 25 0.138
790
c ATS007 Autism Spectrum Disorder 71 0.097
791
PRG003 Progesterone-Receptor Negative Breast Cancer 30 0.097
792
CNN010 Connective Tissue Benign Neoplasm 44 0.097
793
APR001 Apraxia 51 0.097
794
P SCL018 Scoliosis 57 0.097
795
c FNC061 Fanconi Anemia, Complementation Group W 24 0.097
796
ATY003 Atypical Autism 35 0.097
797
BRN032 Brain Glioma 45 0.097
798
CRH005 Crohn's Colitis 53 0.097
799
BRK001 Brooke-Spiegler Syndrome 58 0.097
800
AMG001 Amegakaryocytic Thrombocytopenia, Congenital 55 0.097
801
P OPT048 Opitz-Gbbb Syndrome 49 0.097
802
ZLL002 Zollinger-Ellison Syndrome 55 0.097
803
c SCN036 Secondary Progressive Multiple Sclerosis 55 0.097
804
P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 57 0.097
805
APH002 Aphasia 55 0.097
806
P FML023 Familial Hemiplegic Migraine 53 0.097
807
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 0.097
808
ECT026 Ectopic Pregnancy 47 0.097
809
MTR088 Mature T-Cell and Nk-Cell Lymphoma 42 0.097
810
c RBN018 Robinow Syndrome, Autosomal Dominant 1 51 0.097
811
c RBN021 Rubinstein-Taybi Syndrome 1 56 0.097
812
ULN003 Ulnar-Mammary Syndrome 56 0.097
813
P SCH015 Schizophrenia 74 0.097
814
ACH004 Achondroplasia 65 0.097
815
P ATS364 Autism 72 0.097
816
VRC005 Varicose Veins 59 0.097
817
ARG002 Argininosuccinic Aciduria 61 0.097
818
CHN016 Cohen Syndrome 59 0.097
819
P BTH005 Bethlem Myopathy 1 62 0.097
820
PRN011 Pernicious Anemia 52 0.097
821
c MGR028 Migraine with or Without Aura 1 63 0.097
822
OPT070 Optic Nerve Hypoplasia, Bilateral 55 0.097
823
OTT002 Otitis Media 70 0.097
824
DNT005 Dentatorubral-Pallidoluysian Atrophy 59 0.097
825
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.097
826
c EXS020 Exostoses, Multiple, Type Ii 38 0.097
827
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.097
828
MYP106 Myopathy, Myosin Storage, Autosomal Recessive 33 0.097
829
KND001 Kindler Syndrome 63 0.097
830
PLY150 Polykaryocytosis Inducer 29 0.097
831
MCC012 Mccune-Albright Syndrome 69 0.097
832
FCT001 Factor Viii Deficiency 61 0.097
833
SRS007 Sorsby Fundus Dystrophy 51 0.097
834
P HYP768 Hyperlipoproteinemia, Type I 67 0.097
835
GST092 Gastroesophageal Reflux 59 0.097
836
RFS006 Refsum Disease, Classic 63 0.097
837
c INF071 Inflammatory Bowel Disease 1 65 0.097
838
P ATS366 Autism X-Linked 2 41 0.097
839
INC021 Incontinentia Pigmenti 63 0.097
840
OVR112 Ovarian Germ Cell Cancer 41 0.097
841
c PRX045 Peroxisome Biogenesis Disorder 1b 61 0.097
842
SCK003 Sickle Cell Anemia 74 0.097
843
c INF078 Inflammatory Bowel Disease 2 28 0.097
844
NRL018 Neural Tube Defects, Folate-Sensitive 46 0.097
845
c FNC045 Fanconi Anemia, Complementation Group F 44 0.097
846
BRT054 Brittle Bone Disorder 74 0.097
847
P RTH006 Rothmund-Thomson Syndrome, Type 2 67 0.097
848
c OVR076 Ovarian Dysgenesis 2 28 0.097
849
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 0.097
850
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 0.097
851
GBR007 Gabriele-De Vries Syndrome 33 0.097
852
LCR004 La Crosse Encephalitis 36 0.097
853
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.097
854
P PLM037 Pulmonary Hypertension 69 0.097
855
LYM007 Lymphangioleiomyomatosis 68 0.097
856
c THR102 Thrombocytopenia 5 29 0.097
857
TBR002 Tuberculous Salpingitis 28 0.097
858
RTC002 Reticular Dysgenesis 52 0.097
859
VSD002 Vas Deferens, Congenital Bilateral Aplasia of 50 0.097
860
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 25 0.097
861
P SPR119 Spermatogenic Failure, X-Linked, 1 36 0.097
862
c HMP029 Hemophilia a 69 0.097
863
P ZNC008 Zinc Finger Protein 1 22 0.097
864
P JBR020 Joubert Syndrome 1 74 0.097
865
DBW001 Dubowitz Syndrome 48 0.097
866
c TBR025 Tuberous Sclerosis 1 84 0.097
867
PBL005 Piebald Trait 60 0.097
868
c TTH013 Tooth Agenesis, Selective, 4 27 0.097
869
c HMC039 Hemochromatosis, Type 1 73 0.097
870
IMM169 Immunoerythromyeloid Hypoplasia 22 0.097
871
PHN003 Phenylketonuria 76 0.097
872
SLR001 Sialuria 48 0.097
873
c SPR089 Spermatogenic Failure 4 32 0.097
874
P WSK001 Wiskott-Aldrich Syndrome 72 0.097
875
c TBR026 Tuberous Sclerosis 2 71 0.097
876
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49 0.097
877
c LSS005 Lissencephaly 1 57 0.097
878
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52 0.097
879
P DNG005 Dengue Virus 55 0.097
880
c PRX060 Peroxisome Biogenesis Disorder 5a 33 0.097
881
c CWD008 Cowden Syndrome 6 29 0.097
882
c BTT014 Beta-Thalassemia 72 0.097
883
c LKM056 Leukemia, Chronic Lymphocytic 2 47 0.097
884
AMY082 Amyloidosis, Familial Visceral 53 0.097
885
P ANG001 Angelman Syndrome 64 0.097
886
ATM095 Autoimmune Disease 61 0.097
887
MYL057 Myelopathy, Htlv-1-Associated 39 0.097
888
c SPN294 Spinocerebellar Ataxia 1 53 0.097
889
PLM102 Palmoplantar Keratoderma, Epidermolytic 55 0.097
890
ICH001 Ichthyosis Vulgaris 53 0.097
891
INT051 Intussusception 53 0.097
892
CHR003 Cherubism 57 0.097
893
P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54 0.097
894
PMP006 Pemphigus Vulgaris, Familial 57 0.097
895
c SPL067 Split-Hand/foot Malformation 1 46 0.097
896
TQP001 Taqi Polymorphism 29 0.097
897
LNT004 Lentigines 45 0.097
898
CD4008 Cd4/cd8 T-Cell Ratio 19 0.097
899
PRT010 Parathyroid Carcinoma 68 0.097
900
ODN009 Odontoonychodermal Dysplasia 35 0.097
901
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.097
902
CHR594 Chromosome 3q29 Deletion Syndrome 41 0.097
903
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.097
904
ONC007 Oncocytoma 49 0.097
905
KRN002 Kearns-Sayre Syndrome 62 0.097
906
HLC007 Helicobacter Pylori Infection 67 0.097
907
CHL149 Childhood Acute Myeloid Leukemia 42 0.097
908
ATY042 Atypical Chronic Myeloid Leukemia 50 0.097
909
c HRD202 Hereditary Lymphedema I 54 0.097
910
MLN079 Melanoma in Congenital Melanocytic Nevus 39 0.097
911
UTR056 Uterine Corpus Endometrial Carcinoma 28 0.097
912
NTM002 Nut Midline Carcinoma 44 0.097
913
P GRS003 Griscelli Syndrome 54 0.097
914
NDL001 Nodular Malignant Melanoma 44 0.097
915
END080 Endometrial Disease 45 0.097
916
THY128 Thyroid Tumor 33 0.097
917
HMN048 Human Papillomavirus Infectious Disease 45 0.097
918
P SPL061 Split Hand-Foot Malformation 43 0.097
919
CHL123 Chlamydia 58 0.097
920
LWG006 Low Grade Glioma 41 0.097
921
NNL006 Non-Alcoholic Steatohepatitis 54 0.097
922
SNN002 Sinonasal Undifferentiated Carcinoma 29 0.097
923
CLR108 Colorectal Adenoma 63 0.097
924
INT030 Intracranial Aneurysm 55 0.097
925
P HYP069 Hyperparathyroidism 62 0.097
926
GNG005 Gangliocytoma 54 0.097
927
MYL031 Myeloproliferative Neoplasm 66 0.097
928
c HPT015 Hepatitis D 49 0.097
929
P TMP001 Temporal Lobe Epilepsy 49 0.097
930
P CNT005 Central Nervous System Lymphoma 51 0.097
931
P LNG028 Long Qt Syndrome 63 0.097
932
P HMN010 Hemangioma 61 0.097
933
CHN010 Chondroma 43 0.097
934
CRT016 Carotid Artery Disease 52 0.097
935
P BRD002 Bardet-Biedl Syndrome 66 0.097
936
P SPN046 Spinal Muscular Atrophy 62 0.097
937
CHL147 Chlamydia Pneumonia 47 0.097
938
XRD027 Xeroderma Pigmentosum Group E 38 0.097
939
GNG002 Ganglioneuroma 52 0.097
940
BRN004 Brain Edema 54 0.097
941
SPN012 Spindle Cell Hemangioma 31 0.097
942
RHB002 Rhabdoid Meningioma 32 0.097
943
SMN007 Seminoma 42 0.097
944
CLL002 Collecting Duct Carcinoma 53 0.097
945
CTN012