Search results for shh

1175 hits were found for shh

# Family MCID Name MIFTS Score
1
c HLP026 Holoprosencephaly 3 48 47.970
2
P HLP001 Holoprosencephaly 69 40.355
3
SLT005 Solitary Median Maxillary Central Incisor 49 32.606
4
SCH018 Schizencephaly 52 27.114
5
c MCR350 Microphthalmia, Isolated, with Coloboma 5 21 25.672
6
MDL033 Medulloblastoma Shh Activated and Tp53 Wild-Type 4 22.883
7
P MDL005 Medulloblastoma 75 22.101
8
CLB026 Colobomatous Microphthalmia 46 21.925
9
MDL031 Medulloblastoma Shh Activated 6 20.237
10
MDL034 Medulloblastoma Non-Wnt/non-Shh 5 20.143
11
MDL032 Medulloblastoma Shh Activated and Tp53 Mutant 4 19.138
12
P MDL035 Medulloblastoma Non-Wnt/non-Shh Group 3 4 18.829
13
MDL036 Medulloblastoma Non-Wnt/non-Shh Group 4 4 18.829
14
P PLY006 Polydactyly 58 17.836
15
c SYN061 Syndactyly, Type Iv 40 16.871
16
SML028 Semilobar Holoprosencephaly 47 16.108
17
c BSL007 Basal Cell Carcinoma 68 15.749
18
P PNC035 Pancreatic Cancer 86 15.660
19
TBH001 Tibia, Hypoplasia or Aplasia of, with Polydactyly 46 14.819
20
P CLR023 Colorectal Cancer 100 13.770
21
ALB014 Alobar Holoprosencephaly 45 13.593
22
P GST053 Gastric Cancer 82 13.258
23
P PLY148 Polydactyly, Preaxial Ii 46 13.150
24
MCR013 Microphthalmia 60 12.396
25
ESP020 Esophageal Atresia 60 12.187
26
CLF001 Cleft Lip 54 11.685
27
P MCR010 Microcephaly 59 11.310
28
BRN028 Brain Cancer 73 10.814
29
c HLP023 Holoprosencephaly 1 56 10.790
30
LRN006 Laurin-Sandrow Syndrome 46 10.645
31
CLF027 Cleft Palate, Isolated 64 10.420
32
SMT004 Smith-Lemli-Opitz Syndrome 69 10.255
33
ACR008 Acrocallosal Syndrome 70 9.864
34
P NRB001 Neuroblastoma 66 9.786
35
NRL016 Neural Tube Defects 81 9.652
36
P JBR020 Joubert Syndrome 1 74 9.495
37
P RHB003 Rhabdomyosarcoma 66 9.237
38
P HYP083 Hypopituitarism 52 9.222
39
VCT001 Vacterl Association 46 9.182
40
P SKN015 Skin Carcinoma 71 9.158
41
c ATS007 Autism Spectrum Disorder 72 9.079
42
P BRC006 Brachydactyly 52 9.059
43
P ATS364 Autism 72 8.949
44
c BRC078 Brachydactyly, Type A1 53 8.897
45
PTT001 Pituitary Hypoplasia 34 8.843
46
GRG001 Greig Cephalopolysyndactyly Syndrome 64 8.744
47
NNS002 Nonspecific Interstitial Pneumonia 42 8.715
48
P CLD001 Cleidocranial Dysplasia 64 8.681
49
P HYP077 Hypertrichosis 48 8.662
50
P TRT010 Teratoma 50 8.373
51
OLF005 Olfactory Neuroblastoma 46 8.209
52
P PLR004 Pleuropulmonary Blastoma 65 8.193
53
BSL036 Basal Cell Nevus Syndrome 73 8.107
54
AST006 Astigmatism 46 8.004
55
URT004 Urethral Syndrome 39 8.004
56
MDL020 Midline Interhemispheric Variant of Holoprosencephaly 44 7.964
57
MLT163 Multiple Pterygium Syndrome, Escobar Variant 63 7.910
58
CHR619 Chromosome 2q35 Duplication Syndrome 64 7.515
59
LBR025 Lobar Holoprosencephaly 47 7.479
60
MCR173 Microform Holoprosencephaly 44 7.462
61
NDL005 Nodular Medulloblastoma 38 7.218
62
SPT016 Septopreoptic Holoprosencephaly 36 7.211
63
ATS356 Autosomal Dominant Preaxial Polydactyly-Upperback Hypertrichosis Syndrome 4 7.211
64
RDL022 Radial Hemimelia 21 7.211
65
ADL023 Adult Medulloblastoma 42 6.928
66
c HLP024 Holoprosencephaly 2 48 6.908
67
c HLP028 Holoprosencephaly 5 47 6.874
68
CLB010 Coloboma of Macula 53 6.865
69
P LFR001 Li-Fraumeni Syndrome 73 6.848
70
c HLP029 Holoprosencephaly 4 43 6.839
71
KRT063 Keratocystic Odontogenic Tumor 39 6.822
72
c DPH024 Diaphragmatic Hernia, Congenital 64 6.624
73
RHB001 Rhabdoid Cancer 68 6.586
74
ANS023 Anus, Imperforate 56 6.568
75
SPT006 Septooptic Dysplasia 62 6.537
76
P MCK013 Meckel Syndrome, Type 1 64 6.480
77
P TTR001 Tetralogy of Fallot 69 6.455
78
TTH002 Tooth Agenesis 61 6.455
79
P HRS035 Hirschsprung Disease 1 66 6.428
80
P BRD002 Bardet-Biedl Syndrome 66 6.428
81
DNN002 Donnai-Barrow Syndrome 54 6.398
82
ELL001 Ellis-Van Creveld Syndrome 62 6.382
83
P TWN003 Townes-Brocks Syndrome 55 6.382
84
CRR002 Currarino Syndrome 49 6.346
85
P FTL001 Fetal Alcohol Syndrome 55 6.269
86
CNT033 Central Nervous System Cancer 47 6.173
87
FTL006 Fetal Alcohol Spectrum Disorder 43 6.153
88
P PLL001 Pallister-Hall Syndrome 62 6.137
89
P FNG006 Feingold Syndrome 1 61 5.994
90
P VSC013 Visceral Heterotaxy 53 5.971
91
ATY005 Atypical Teratoid Rhabdoid Tumor 69 5.959
92
CRY035 Cryptorchidism, Unilateral or Bilateral 57 5.934
93
FCL009 Focal Dermal Hypoplasia 64 5.907
94
P RTN008 Retinitis Pigmentosa 79 5.892
95
c HLP027 Holoprosencephaly 7 49 5.877
96
P NPH005 Nephronophthisis 59 5.877
97
PTS001 Patau Syndrome 55 5.877
98
AGN012 Agnathia-Otocephaly Complex 52 5.825
99
c HLP016 Holoprosencephaly 11 46 5.825
100
PNC118 Pancreas, Annular 42 5.825
101
P ORF002 Orofacial Cleft 42 5.825
102
CRB030 Cerebellum Cancer 38 5.825
103
TTH032 Tooth Size 35 5.825
104
MTS001 Mutism 44 5.825
105
CRB028 Cerebellar Medulloblastoma 33 5.782
106
c HLP025 Holoprosencephaly 9 49 5.782
107
CLL036 Culler-Jones Syndrome 49 5.782
108
ASP005 Asphyxiating Thoracic Dystrophy 47 5.782
109
ACH001 Acheiropody 41 5.757
110
P CNT044 Central Nervous System Primitive Neuroectodermal Neoplasm 28 5.757
111
c MCR241 Microphthalmia, Syndromic 3 55 5.727
112
DDN011 Duodenal Atresia 48 5.727
113
BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41 5.688
114
P KLL001 Kallmann Syndrome 65 5.688
115
ADM001 Adamantinous Craniopharyngioma 33 5.688
116
FND002 Fundus Dystrophy 55 5.688
117
HYL004 Hyaline Fibromatosis Syndrome 66 5.593
118
DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 48 5.593
119
c HYP507 Hypotrichosis 1 43 5.593
120
LBR036 Leber Plus Disease 67 5.593
121
CRZ001 Crouzon Syndrome 64 5.593
122
P FNC026 Fanconi Renotubular Syndrome 1 49 5.593
123
BRN116 Brain Stem Medulloblastoma 19 5.593
124
KRT010 Kartagener Syndrome 49 5.593
125
CHR569 Chromosomal Duplication Syndrome 21 5.593
126
ACR002 Acrocapitofemoral Dysplasia 48 5.593
127
APR006 Apert Syndrome 69 5.593
128
P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 59 5.593
129
ODN023 Odontochondrodysplasia 70 5.593
130
P RNL100 Renal Hypodysplasia/aplasia 1 63 5.593
131
DSS008 Disease of Mental Health 74 5.593
132
P BND014 Bone Development Disease 33 5.593
133
P CHR084 Chromosomal Disease 34 5.593
134
PHY002 Physical Disorder 41 5.593
135
INF039 Infratentorial Cancer 38 5.593
136
CRB034 Cerebral Hemisphere Lipoma 25 5.593
137
CRP003 Corpus Callosum Lipoma 33 5.593
138
c CNG031 Congenital Nervous System Abnormality 24 5.593
139
CRB033 Cerebral Degeneration 36 5.593
140
SPR024 Supratentorial Cancer 38 5.593
141
SYN005 Synostosis 43 5.593
142
LRG003 Large Cell Medulloblastoma 32 5.593
143
CRB013 Cerebellar Vermis Medulloblastoma 12 5.593
144
MDL003 Medullomyoblastoma 34 5.593
145
ADL022 Adult Central Nervous System Primitive Neuroectodermal Neoplasm 17 5.593
146
MLN004 Melanotic Medulloblastoma 31 5.593
147
SCR020 Sacral Defect with Anterior Meningocele 59 5.593
148
SKL003 Skeletal Muscle Cancer 29 5.593
149
BRN023 Brain Stem Ependymoma 11 5.593
150
SPR008 Supratentorial Primitive Neuroectodermal Tumor 42 5.593
151
P PRM011 Primary Ciliary Dyskinesia 69 5.593
152
GLB002 Glioblastoma 67 3.281
153
P LNG032 Lung Cancer 98 3.262
154
GLM045 Glioma 62 3.219
155
GLL048 Glial Tumor 52 3.133
156
P PRS040 Prostate Cancer 95 2.260
157
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.170
158
P BRS047 Breast Cancer 97 2.139
159
SPN186 Spinal Cord Injury 61 2.107
160
HYP266 Hypoxia 56 2.075
161
P HPT023 Hepatocellular Carcinoma 95 2.066
162
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 2.044
163
CRB004 Cerebral Artery Occlusion 46 2.035
164
P SLP006 Sleep Apnea 69 1.993
165
ISC004 Ischemia 61 1.979
166
SQM006 Squamous Cell Carcinoma 59 1.977
167
HLX001 Helix Syndrome 47 1.974
168
HGH043 High Grade Glioma 46 1.947
169
LNG099 Lung Disease 62 1.885
170
P OVR082 Overgrowth Syndrome 42 1.883
171
THY029 Thyroid Carcinoma 54 1.811
172
P BLD134 Bladder Cancer 79 1.785
173
P MYC007 Myocardial Infarction 69 1.771
174
P TMR010 Tumor Predisposition Syndrome 69 1.763
175
DWN001 Down Syndrome 70 1.763
176
P OVR042 Ovarian Cancer 88 1.720
177
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.711
178
ORL015 Oral Squamous Cell Carcinoma 43 1.688
179
P ADN016 Adenocarcinoma 63 1.683
180
P LNG064 Lung Cancer Susceptibility 3 70 1.682
181
c PLY136 Polydactyly, Preaxial I 32 1.672
182
P MYL006 Myeloid Leukemia 60 1.660
183
P GST044 Gastritis 55 1.653
184
P CRB045 Cerebellar Hypoplasia 40 1.648
185
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 53 1.604
186
c SML038 Small Cell Cancer of the Lung 69 1.604
187
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.598
188
MNN043 Meningioma, Familial 79 1.594
189
AML029 Ameloblastoma 46 1.572
190
CLP005 Ciliopathy 41 1.558
191
P HYP040 Hypospadias 51 1.540
192
c THY109 Thyroid Cancer, Nonmedullary, 1 55 1.525
193
EXN003 Exencephaly 30 1.509
194
P PLM036 Pulmonary Fibrosis 65 1.506
195
CHR178 Chromosomal Triplication 34 1.486
196
DGN001 Degenerative Disc Disease 48 1.476
197
P ART022 Arthritis 70 1.426
198
P LKM002 Leukemia 66 1.421
199
P HRT032 Heart Disease 84 1.415
200
RNL077 Renal Fibrosis 46 1.406
201
P KDN017 Kidney Cancer 60 1.386
202
CRB039 Cerebrovascular Disease 65 1.369
203
IMP005 Impotence 52 1.355
204
LNG039 Lung Squamous Cell Carcinoma 57 1.327
205
HRW001 Hair Whorl 35 1.320
206
c AMY091 Amyotrophic Lateral Sclerosis 1 88 1.313
207
P LTR001 Lateral Sclerosis 58 1.313
208
c LKM063 Leukemia, Chronic Myeloid 71 1.305
209
c PRC016 Pre-Eclampsia 64 1.297
210
TTH030 Teeth, Supernumerary 32 1.293
211
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 1.289
212
INH023 Inherited Cancer-Predisposing Syndrome 53 1.289
213
HLC007 Helicobacter Pylori Infection 67 1.278
214
EMB004 Embryonal Carcinoma 55 1.264
215
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.247
216
SPL056 Split-Foot Deformity with Mandibulofacial Dysostosis 29 1.244
217
VTR016 Vater/vacterl Association 50 1.242
218
GNG012 Gingival Overgrowth 49 1.238
219
CRV035 Cervical Cancer 72 1.229
220
DMY004 Demyelinating Disease 50 1.204
221
P ALP008 Alopecia 53 1.190
222
TRM010 Traumatic Brain Injury 50 1.177
223
P HYD006 Hydrocephalus 63 1.163
224
CKT002 Cakut 48 1.136
225
P RHM011 Rheumatoid Arthritis 81 1.134
226
CHL018 Childhood Medulloblastoma 47 1.132
227
c SPN225 Spondyloarthropathy 1 70 1.127
228
SPN051 Spondylitis 51 1.127
229
INF009 Inflammatory Spondylopathy 30 1.127
230
c LKM061 Leukemia, Acute Myeloid 83 1.120
231
STR067 Stroke, Ischemic 79 1.116
232
c SPL067 Split-Hand/foot Malformation 1 46 1.115
233
CRN036 Craniopharyngioma 63 1.115
234
ISL121 Isolated Split Hand-Split Foot Malformation 42 1.115
235
MCR381 Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 17 1.103
236
DFC004 Deficiency Anemia 74 1.103
237
URT010 Ureteral Obstruction 45 1.097
238
ESP021 Esophageal Cancer 84 1.089
239
INT066 Interstitial Lung Disease 60 1.078
240
SYN007 Synovitis 54 1.056
241
PLC002 Plica Syndrome 35 1.056
242
P AST005 Asthma 76 1.036
243
P MTR014 Motor Neuron Disease 65 1.022
244
c OTP006 Otopalatodigital Syndrome, Type I 60 1.021
245
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 1.021
246
P ENC008 Encephalocele 46 1.005
247
MYL009 Myelodysplastic Syndrome 67 1.004
248
P BRN022 Bronchiectasis 59 0.987
249
P DYS154 Dystonia 64 0.969
250
ORL011 Oral Cancer 60 0.955
251
P BNG030 Benign Ependymoma 51 0.947
252
CLL010 Cellular Ependymoma 58 0.947
253
CNG608 Congenital Hypopituitarism 29 0.944
254
P OMP004 Omphalocele 47 0.934
255
INT060 Intestinal Atresia 40 0.934
256
CHR183 Chromosome 10q Deletion 13 0.934
257
ALL006 Allergic Asthma 56 0.934
258
MYL069 Myeloma, Multiple 77 0.923
259
c FNC027 Fanconi Anemia, Complementation Group a 81 0.923
260
HYD002 Hydronephrosis 58 0.923
261
OST159 Osteogenic Sarcoma 66 0.923
262
P PHC014 Phocomelia 23 0.923
263
P SLP005 Sleep Disorder 62 0.922
264
CRN088 Craniorachischisis 35 0.911
265
ACR019 Acropectoral Syndrome 20 0.910
266
P GLM040 Glioma Susceptibility 1 70 0.908
267
MLG169 Malignant Astrocytoma 57 0.908
268
c BRN108 Branchiootic Syndrome 1 63 0.900
269
P RTN016 Retinal Degeneration 52 0.900
270
INS024 Insulin-Like Growth Factor I 77 0.888
271
HYP066 Hyperglycemia 60 0.888
272
ATS010 Autosomal Recessive Disease 42 0.862
273
P CRN037 Craniosynostosis 67 0.862
274
P ECT006 Ectodermal Dysplasia 62 0.862
275
P SPP010 Suppressor of Tumorigenicity 3 51 0.849
276
ADR016 Adrenal Cortical Carcinoma 61 0.849
277
P CRN323 Cranioectodermal Dysplasia 58 0.849
278
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.849
279
ANL022 Anal Fistula 47 0.849
280
c ACT027 Acute Pancreatitis 60 0.849
281
ADR004 Adrenal Cortical Adenocarcinoma 38 0.849
282
RDL037 Radial Ray Deficiency, X-Linked 16 0.849
283
48X005 48,xyyy 39 0.849
284
47X002 47,xyy 48 0.849
285
INT395 Intracranial Meningioma 48 0.848
286
SCR001 Secretory Meningioma 40 0.848
287
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.848
288
c BSL024 Basal Cell Carcinoma 1 54 0.841
289
ATM095 Autoimmune Disease 61 0.835
290
c ACT073 Acute Leukemia 59 0.835
291
PRS021 Prostatic Adenoma 43 0.835
292
PRS045 Prostatic Hypertrophy 52 0.835
293
P FML011 Familial Adenomatous Polyposis 71 0.820
294
ANN002 Anencephaly 57 0.820
295
P VNT002 Ventricular Septal Defect 58 0.820
296
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 0.805
297
P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 54 0.805
298
P SYN012 Synpolydactyly 38 0.805
299
OPT070 Optic Nerve Hypoplasia, Bilateral 55 0.805
300
LRN003 Learning Disability 49 0.805
301
CNT108 Central Polydactyly 14 0.805
302
BRN071 Brain Injury 50 0.797
303
GST040 Gastric Adenocarcinoma 66 0.794
304
PRS129 Prostatic Hyperplasia, Benign 48 0.789
305
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 0.789
306
c CRN139 Cornelia De Lange Syndrome 1 61 0.789
307
P RTN018 Retinal Disease 53 0.789
308
P CRN015 Cornelia De Lange Syndrome 67 0.789
309
BRN056 Bronchopulmonary Dysplasia 57 0.789
310
MDL030 Medulloblastoma Wnt Activated 6 0.771
311
EWN003 Ewing Sarcoma 70 0.771
312
P BRN006 Branchiootorenal Syndrome 50 0.771
313
c CLD019 Cleidocranial Dysplasia Spectrum Disorder 20 0.771
314
GNG008 Ganglioneuroblastoma 46 0.770
315
CHN065 Choanal Atresia, Posterior 48 0.753
316
c LFR007 Li-Fraumeni Syndrome 2 44 0.753
317
SRC014 Sarcoma 64 0.753
318
VCC001 Vaccinia 49 0.753
319
CNS004 Constipation 56 0.753
320
P CRN300 Coronary Heart Disease 1 73 0.753
321
SPN035 Spindle Cell Sarcoma 51 0.753
322
CLF056 Cleft Lip with or Without Cleft Palate 43 0.753
323
CNG587 Congenital Limb Malformation 12 0.753
324
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.733
325
DYS018 Dysostosis 43 0.733
326
BLR001 Biliary Atresia 55 0.733
327
P LNG028 Long Qt Syndrome 63 0.733
328
IRN002 Iron Metabolism Disease 56 0.733
329
IRN001 Iron Deficiency Anemia 58 0.733
330
TRC052 Trichofolliculoma 17 0.733
331
PLY012 Polyhydramnios 46 0.733
332
VSC002 Vascular Dementia 59 0.733
333
ISL109 Isolated Cleft Lip 33 0.733
334
P ATR005 Atrophic Gastritis 50 0.715
335
LPP008 Lipoprotein Quantitative Trait Locus 65 0.714
336
P PTT014 Pitt-Hopkins Syndrome 63 0.710
337
c RBN021 Rubinstein-Taybi Syndrome 1 57 0.710
338
c THR092 Thrombophilia Due to Thrombin Defect 74 0.710
339
DPH001 Diphtheria 59 0.710
340
SRN002 Sirenomelia 28 0.710
341
c MCK032 Meckel Syndrome, Type 3 48 0.710
342
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.710
343
OCC011 Occipital Encephalocele 26 0.710
344
ADN018 Adenoma 58 0.708
345
END057 Endometrial Cancer 71 0.696
346
FTT001 Fatty Liver Disease 61 0.689
347
RHB024 Rhabdomyosarcoma 2 65 0.685
348
TBL029 Tubulin, Beta 28 0.685
349
CHR005 Chorioamnionitis 50 0.685
350
ACC008 Accelerated Tumor Formation 20 0.685
351
BNS007 Bone Sarcoma 51 0.685
352
c PLY137 Polydactyly, Preaxial Iii 21 0.685
353
TRG002 Trigeminal Neuralgia 61 0.685
354
TRC097 Tracheomalacia 43 0.685
355
P CMP005 Campomelic Dysplasia 65 0.685
356
c BRD019 Bardet-Biedl Syndrome 7 43 0.685
357
P ACN011 Acne 55 0.685
358
OBS004 Obstructive Hydrocephalus 45 0.685
359
P MLN007 Male Infertility 56 0.685
360
P SYS005 Systemic Scleroderma 73 0.685
361
P PNM007 Pneumonia 64 0.685
362
RSC001 Rosacea 55 0.685
363
PNC129 Pancreatic Adenocarcinoma 65 0.682
364
c HYP595 Hypertension, Essential 84 0.675
365
GNG004 Ganglioglioma 53 0.675
366
P RTN024 Retinoblastoma 72 0.662
367
c JBR018 Joubert Syndrome 4 53 0.655
368
c FNC024 Fanconi Anemia, Complementation Group D1 51 0.655
369
CHR615 Chromosome 19q13.11 Deletion Syndrome, Proximal 13 0.655
370
c HYD064 Hydrocephalus, Congenital, 1 51 0.655
371
c FNC023 Fanconi Anemia, Complementation Group N 47 0.655
372
c JBR011 Joubert Syndrome 7 46 0.655
373
PHL006 Phelan-Mcdermid Syndrome 62 0.655
374
HRT030 Hartsfield Syndrome 46 0.655
375
CHR238 Chromosome 2p Duplication 14 0.655
376
INT007 Intermediate Coronary Syndrome 53 0.655
377
NDL020 Nodal Marginal Zone B-Cell Lymphoma 29 0.655
378
LMB062 Limb Ischemia 55 0.649
379
ADN011 Adenoid Cystic Carcinoma 68 0.639
380
P BCL017 B-Cell Lymphoma 57 0.628
381
RSP021 Respiratory Allergy 41 0.616
382
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.616
383
P LRY044 Larynx Cancer 53 0.616
384
P GND004 Gonadal Dysgenesis 46 0.616
385
P TRN020 Turner Syndrome 67 0.616
386
DYS101 Dysgerminoma 44 0.616
387
DYS017 Dysgerminoma of Ovary 37 0.616
388
CHR460 Chromosome Xq Deletion 8 0.616
389
HRN026 Hernia, Hiatus 47 0.613
390
SVR004 Severe Combined Immunodeficiency 71 0.613
391
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.613
392
PLY150 Polykaryocytosis Inducer 29 0.606
393
CLF004 Cleft Lip/palate 57 0.583
394
ADL002 Adult Syndrome 69 0.580
395
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 0.580
396
APN008 Apnea, Obstructive Sleep 66 0.580
397
MNN042 Meningioma, Radiation-Induced 51 0.580
398
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 53 0.580
399
GRM005 Germ Cell Cancer 46 0.580
400
GLM004 Gliomatosis Cerebri 52 0.580
401
P PNB001 Pineoblastoma 49 0.580
402
P CRD246 Cardiovascular System Disease 55 0.580
403
SPN021 Spinal Meningioma 43 0.580
404
P NRV006 Nervous System Cancer 47 0.580
405
P OLG002 Oligodendroglioma 66 0.580
406
ANP005 Anaplastic Astrocytoma 59 0.580
407
P EPN001 Ependymoblastoma 44 0.580
408
PNL014 Pineal Gland Cancer 40 0.580
409
MXD026 Mixed Glioma 45 0.580
410
AND005 Androgen Insensitivity Syndrome, Mild 21 0.580
411
PNC056 Pineocytoma 44 0.580
412
NNL006 Non-Alcoholic Steatohepatitis 54 0.568
414
HYP748 Hypertelorism 46 0.544
415
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.544
416
BRN004 Brain Edema 54 0.535
417
c ACT075 Acute Myocardial Infarction 55 0.527
418
CLC010 Calcifying Epithelial Odontogenic Tumor 28 0.521
419
CLT003 Colitis 63 0.518
420
P HYP086 Hypothyroidism 69 0.518
421
CLR030 Clear Cell Renal Cell Carcinoma 54 0.501
422
ALL014 Allergic Encephalomyelitis 34 0.501
423
CYT002 Cytokine Deficiency 43 0.492
424
GST092 Gastroesophageal Reflux 60 0.483
425
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.483
426
CHL065 Cholangiocarcinoma 58 0.483
427
INT079 Intrahepatic Cholangiocarcinoma 51 0.483
428
SPL004 Splenic Marginal Zone Lymphoma 50 0.482
429
TRC035 Tracheal Agenesis 30 0.482
430
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.473
431
HMM005 Hemimelia 33 0.473
432
THY128 Thyroid Tumor 33 0.464
433
MCR011 Microinvasive Gastric Cancer 41 0.454
434
P HNT016 Huntington Disease 73 0.454
435
P RSP003 Respiratory Failure 74 0.434
436
CHL014 Cholera 62 0.434
437
P PNC044 Pancreatitis 61 0.434
438
P GLL018 Gallbladder Cancer 53 0.434
439
BLD173 Bladder Small Cell Carcinoma 44 0.428
440
ADN089 Adenosquamous Lung Carcinoma 49 0.428
441
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 0.428
442
FRY006 Fryns Microphthalmia Syndrome 52 0.423
443
PRT037 Pertussis 49 0.423
444
P RRT020 Rare Tumor 39 0.423
445
c ORF037 Orofaciodigital Syndrome I 59 0.413
446
MNN009 Meningoencephalitis 48 0.413
447
ESN006 Eosinophilic Meningitis 36 0.413
448
BCK006 Back Pain 43 0.413
449
STS002 Situs Inversus 44 0.413
450
ORF053 Orofacial Clefting Syndrome 31 0.413
451
BRR014 Barrett Esophagus 66 0.402
452
P EPL164 Epilepsy 70 0.402
453
PTT037 Pituitary Tumors 44 0.402
454
P ZNC008 Zinc Finger Protein 1 22 0.390
455
P HYP076 Hyperthyroidism 53 0.390
456
XRD010 Xeroderma Pigmentosum, Variant Type 72 0.379
457
BNR002 Bone Resorption Disease 47 0.379
458
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.379
459
CLR109 Colorectal Adenocarcinoma 50 0.379
460
P MYP006 Myopia 55 0.379
461
AGN016 Aging 54 0.367
462
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.367
463
THY122 Thyroid Gland Cancer 59 0.367
464
P ORF001 Orofaciodigital Syndrome 50 0.367
465
ART140 Arteries, Anomalies of 52 0.354
466
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.354
467
P PRK057 Parkinson Disease, Late-Onset 79 0.354
468
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.354
469
ADN012 Adenocarcinoma in Situ 42 0.354
470
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.354
471
PLY024 Polymicrogyria 46 0.354
472
PTT041 Pituitary Stalk Interruption Syndrome 54 0.354
473
CHR072 Chordoma 57 0.341
474
P ATR001 Atrioventricular Septal Defect 55 0.341
475
c HYP820 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 24 0.341
476
P STR020 Strabismus 56 0.341
477
CRN027 Corneal Neovascularization 47 0.341
478
P ART021 Arteriosclerosis 53 0.341
479
P BNG032 Benign Mesothelioma 53 0.341
480
P TMP001 Temporal Lobe Epilepsy 49 0.341
481
PTH003 Pathologic Nystagmus 52 0.341
482
P KDN018 Kidney Disease 72 0.341
483
MCH006 Mechanical Strabismus 40 0.341
484
TBL008 Tibial Hemimelia 30 0.328
485
P INF037 Inflammatory Bowel Disease 53 0.328
486
GLC003 Glucose Intolerance 53 0.328
487
P ANP001 Anaplastic Large Cell Lymphoma 61 0.328
488
PRP080 Peripheral Artery Disease 54 0.328
489
P SPN046 Spinal Muscular Atrophy 62 0.328
490
P TBR001 Tuberous Sclerosis 69 0.328
491
P MSC003 Muscular Atrophy 52 0.328
492
P PRD008 Periodontitis 64 0.328
493
OCL006 Ocular Hypertension 53 0.328
494
P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 39 0.328
495
c SKN065 Skin/hair/eye Pigmentation, Variation in, 1 27 0.314
496
CLN022 Colonic Atresia 25 0.314
497
P PLY014 Polycystic Kidney Disease 71 0.314
498
c HYP532 Hypogonadotropic Hypogonadism 18 with or Without Anosmia 27 0.314
499
DGR001 Digeorge Syndrome 62 0.314
500
c TBR025 Tuberous Sclerosis 1 84 0.314
501
PRV004 Periventricular Leukomalacia 52 0.314
502
MCN001 Mucinous Adenocarcinoma 49 0.314
503
APP009 Appendix Adenocarcinoma 47 0.314
504
PLR007 Pleural Empyema 51 0.314
505
DYS073 Dysphagia 53 0.314
506
BRN049 Brain Tumor, Childhood 28 0.314
507
KLD004 Keloid Disorder 39 0.314
508
P DBT005 Diabetes Insipidus 54 0.314
509
PRT251 Proteinuria, Chronic Benign 58 0.299
510
DFF005 Diffuse Large B-Cell Lymphoma 55 0.299
511
NRR001 Neuroretinitis 42 0.299
512
ATH013 Atherosclerosis Susceptibility 63 0.299
513
P BND020 Bone Disease 60 0.299
514
LMY002 Leiomyoma 51 0.299
515
CNG034 Congestive Heart Failure 69 0.299
516
P INF032 Infertility 60 0.299
517
P VSC007 Vascular Disease 62 0.299
518
HYP080 Hypogonadism 49 0.299
519
HRT011 Heart Septal Defect 49 0.299
520
P AXN002 Axenfeld-Rieger Syndrome 62 0.299
521
GST023 Gastric Ulcer 52 0.299
522
P LVR013 Liver Disease 68 0.299
523
RTN023 Retinitis 45 0.299
524
P AXN001 Axonal Neuropathy 33 0.299
525
P GNT009 Giant Axonal Neuropathy 44 0.299
526
GRW007 Growth Hormone Deficiency 47 0.299
527
P FNC044 Fanconi Anemia, Complementation Group C 56 0.284
528
P ATX030 Ataxia-Telangiectasia 80 0.284
529
P CRN024 Corneal Disease 43 0.284
530
RNL025 Renal Hypoplasia 46 0.284
531
TNG007 Tongue Carcinoma 55 0.284
532
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 68 0.284
533
TNG009 Tongue Squamous Cell Carcinoma 43 0.284
534
HPT067 Hepatocellular Adenoma 42 0.284
535
c CNG006 Congenital Hypothyroidism 63 0.284
536
P FLL037 Follicular Lymphoma 73 0.284
537
CLF028 Cleft Soft Palate 38 0.284
538
MCK029 Meckel Diverticulum 38 0.284
539
P LKM071 Leukemia, Chronic Lymphocytic 74 0.284
540
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.284
541
CLL014 Cll/sll 45 0.284
542
LVR012 Liver Cirrhosis 62 0.284
543
EMB002 Embryoma 37 0.284
544
P MLN008 Melanoma 75 0.284
545
SKN016 Skin Disease 62 0.284
546
P LYN001 Lynch Syndrome 76 0.284
547
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 0.284
548
c CHR684 Chronic Kidney Disease 74 0.284
549
BLR013 Biliary Tract Cancer 43 0.284
550
P WRD001 Waardenburg's Syndrome 60 0.284
551
HTR003 Heterotaxy 44 0.284
552
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.268
553
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.268
554
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.268
555
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.268
556
END062 Endometrial Hyperplasia 48 0.268
557
LYN004 Lynch Syndrome I 60 0.268
558
P MLT020 Multiple Sclerosis 79 0.268
559
GST071 Gastrointestinal Carcinoma 46 0.268
560
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.268
561
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.268
562
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.268
563
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.268
564
c EXS019 Exostoses, Multiple, Type I 54 0.268
565
PPL052 Papillomatosis, Confluent and Reticulated 34 0.268
566
c SCL052 Scleroderma, Familial Progressive 60 0.268
567
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.268
568
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.268
569
P ART005 Arteriovenous Malformation 65 0.268
570
PTZ001 Peutz-Jeghers Syndrome 69 0.268
571
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.268
572
KRT008 Keratopathy 46 0.268
573
KRT009 Keratosis 52 0.268
574
MGS001 Megaesophagus 44 0.268
575
AZS001 Azoospermia 45 0.268
576
GST049 Gastrointestinal System Cancer 49 0.268
577
P SHW006 Shwachman-Diamond Syndrome 1 66 0.268
578
P HYP120 Hypoaldosteronism 33 0.268
579
CRV002 Cervix Uteri Carcinoma in Situ 48 0.268
580
P CTR002 Cataract 59 0.268
581
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 68 0.268
582
CRV045 Cervical Intraepithelial Neoplasia 38 0.268
583
MLG079 Malignant Pleural Mesothelioma 42 0.268
584
RFR003 Refractive Error 41 0.268
585
HYP056 Hypoglycemia 65 0.268
586
P NRF002 Neurofibromatosis 60 0.268
587
HRD224 Hereditary Nonpolyposis Colon Cancer 51 0.268
588
GNT162 Genetic Non-Acquired Premature Ovarian Failure 8 0.268
589
GLM044 Glomerular Disease 34 0.268
591
c MCR115 Microvascular Complications of Diabetes 5 65 0.250
592
c MCR112 Microvascular Complications of Diabetes 2 42 0.250
593
c JBR043 Joubert Syndrome 32 23 0.250
594
CLR108 Colorectal Adenoma 63 0.250
595
P MCR129 Microvascular Complications of Diabetes 1 68 0.250
596
HMN044 Human Immunodeficiency Virus Type 1 76 0.250
597
c OPT053 Optic Atrophy 1 62 0.250
598
END059 Endocrine-Cerebroosteodysplasia 41 0.250
599
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.250
600
P PRV002 Periventricular Nodular Heterotopia 52 0.250
601
P EMB005 Embryonal Rhabdomyosarcoma 53 0.250
602
CRB027 Cerebellar Disease 47 0.250
603
GST017 Gastric Tubular Adenocarcinoma 24 0.250
604
TBL003 Tubular Adenocarcinoma 40 0.250
605
CHL067 Cholecystitis 59 0.250
606
P LMY004 Leiomyosarcoma 62 0.250
607
P ESP024 Esophagitis 60 0.250
608
P NTR004 Neutropenia 62 0.250
609
GST033 Gestational Diabetes 61 0.250
610
P TCD001 Tic Disorder 50 0.250
611
SKN013 Skin Benign Neoplasm 49 0.250
612
THY123 Thyroid Gland Follicular Carcinoma 53 0.250
613
MRK001 Merkel Cell Carcinoma 65 0.250
614
GST019 Gastrointestinal Stromal Tumor 78 0.250
615
SFT003 Soft Tissue Sarcoma 57 0.250
616
GST028 Gastric Squamous Cell Carcinoma 35 0.250
617
DBT010 Diabetic Neuropathy 54 0.250
618
HYP231 Hypothalamic Hamartomas 33 0.250
620
P ALZ034 Alzheimer Disease 87 0.232
621
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 0.232
622
P PLM037 Pulmonary Hypertension 69 0.232
623
c PCH010 Pachyonychia Congenita 3 43 0.232
624
ZLL002 Zollinger-Ellison Syndrome 55 0.232
625
P SNS001 Sensorineural Hearing Loss 59 0.232
626
P LKD001 Leukodystrophy 58 0.232
627
IMM167 Immune Deficiency Disease 77 0.232
628
KRT071 Keratosis, Seborrheic 56 0.232
629
INT029 Interleukin-7 Receptor Alpha Deficiency 28 0.232
630
ADR040 Adrenal Gland Pheochromocytoma 45 0.232
631
CRY001 Cryptogenic Organizing Pneumonia 53 0.232
632
P ANT088 Anterior Segment Dysgenesis 53 0.232
633
RFL001 Reflex Sympathetic Dystrophy 51 0.232
634
P PHC003 Pheochromocytoma 70 0.232
635
c CHR579 Chiari Malformation Type Ii 44 0.232
636
HPT004 Hepatic Coma 43 0.232
637
c SCH079 Schizophrenia 1 44 0.232
638
NSL029 Nasal Type Extranodal Nk/t-Cell Lymphoma 41 0.232
639
MLC004 Mulchandani-Bhoj-Conlin Syndrome 51 0.232
640
CHL068 Cholestasis 61 0.232
641
P END044 Endometriosis 62 0.232
642
MNT002 Mental Depression 56 0.232
643
HPT019 Hepatic Encephalopathy 59 0.232
644
P HYP069 Hyperparathyroidism 62 0.232
645
ALG001 Algoneurodystrophy 37 0.232
646
P THR014 Thrombocytopenia 66 0.232
647
CNT007 Central Nervous System Tuberculosis 35 0.232
648
BLD131 Bladder Urothelial Carcinoma 59 0.232
649
CLN015 Colon Adenocarcinoma 64 0.232
650
HYP070 Hyperpituitarism 36 0.232
651
OPT054 Opitz-Kaveggia Syndrome 52 0.232
652
P NSP012 Nasopharyngeal Carcinoma 60 0.232
653
WLL004 Wallerian Degeneration 38 0.232
654
DNT001 Dental Fluorosis 42 0.232
655
GNT001 Giant Cell Reparative Granuloma 40 0.232
656
P ENC018 Encephalopathy 62 0.232
657
P INS002 in Situ Carcinoma 53 0.232
658
P NGH001 Night Blindness 52 0.232
659
GST030 Gastrinoma 45 0.232
660
P CHR342 Chiari Malformation 41 0.232
661
INV005 Inverted Follicular Keratosis 32 0.232
662
DDN002 Duodenal Gastrinoma 29 0.232
663
P DBT009 Diabetes Mellitus 67 0.232
664
GRM010 Germ Cells Tumors 33 0.232
665
LJN002 Lujan Syndrome 18 0.232
666
DWR001 Dwarfism 45 0.232
667
MXD032 Mixed Germ Cell Tumor 24 0.232
668
c JVN041 Juvenile Nephronophthisis 45 0.232
669
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 0.212
670
P SCH015 Schizophrenia 74 0.212
671
c TYP009 Type 2 Diabetes Mellitus 92 0.212
672
MLN073 Melanosis, Neurocutaneous 45 0.212
673
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 0.212
674
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.212
675
c JBR025 Joubert Syndrome 17 45 0.212
676
PRT013 Portal Hypertension 59 0.212
677
DFF039 Diffuse Midline Glioma, H3 K27m-Mutant 47 0.212
678
P OST002 Osteoporosis 77 0.212
679
CNT061 Conotruncal Heart Malformations 66 0.212
680
MTB004 Metabolic Acidosis 48 0.212
681
P DRM053 Dermatitis, Atopic 65 0.212
682
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.212
683
PPL048 Papillorenal Syndrome 58 0.212
684
c EXD008 Exudative Vitreoretinopathy 1 71 0.212
685
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.212
686
PLM001 Pulmonary Tuberculosis 69 0.212
687
P HMN010 Hemangioma 61 0.212
688
TRN018 Transitional Cell Carcinoma 56 0.212
689
P RCT021 Rectum Cancer 54 0.212
690
P RNL007 Renal Tubular Acidosis 52 0.212
691
SCH014 Schistosomiasis 56 0.212
692
P HYP061 Hypertrophic Cardiomyopathy 69 0.212
693
SLC006 Silicosis 55 0.212
694
P PTT006 Pituitary Adenoma 55 0.212
695
c MCP050 Mucopolysaccharidosis, Type Ii 73 0.212
696
c ANT085 Anterior Segment Dysgenesis 5 44 0.212
697
PTR032 Peters-Plus Syndrome 63 0.212
698
DRM006 Dermatitis 62 0.212
699
FNT004 Fainting 29 0.212
700
P HRP006 Herpes Simplex 65 0.212
701
P HYP265 Hypotonia 42 0.212
702
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 0.212
703
PLM014 Pleomorphic Adenoma 51 0.212
704
MCP006 Mucoepidermoid Carcinoma 48 0.212
705
CNT015 Central Sleep Apnea 46 0.212
707
P ENC004 Encephalitis 61 0.212
708
PNS014 Penis Agenesis 38 0.212
709
P MJR007 Major Affective Disorder 1 42 0.189
710
c MJR006 Major Affective Disorder 5 32 0.189
711
ACT119 Acute Promyelocytic Leukemia 62 0.189
712
MNT001 Mantle Cell Lymphoma 65 0.189
713
BLD130 Bladder Exstrophy 44 0.189
714
SLT016 Solitary Fibrous Tumor/hemangiopericytoma 26 0.189
715
P HMN036 Hemangiopericytoma, Malignant 57 0.189
716
ANG002 Angiostrongyliasis 45 0.189
717
ASP007 Aspiration Pneumonia 49 0.189
718
MYL020 Myelomeningocele 51 0.189
719
c MCK028 Meckel Syndrome 13 25 0.189
720
c MJR003 Major Affective Disorder 6 32 0.189
721
DBT084 Diabetes Mellitus, Ketosis-Prone 60 0.189
722
c SPN101 Spinocerebellar Ataxia 29 58 0.189
723
ANL011 Anal Canal Carcinoma 38 0.189
724
P OCL013 Oculodentodigital Dysplasia 67 0.189
725
ULN003 Ulnar-Mammary Syndrome 56 0.189
726
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 30 0.189
727
c HYP518 Hypogonadotropic Hypogonadism 16 with or Without Anosmia 27 0.189
728
P WSK001 Wiskott-Aldrich Syndrome 72 0.189
729
c BRD044 Bardet-Biedl Syndrome 17 41 0.189
730
P URN019 Urinary Tract Infection 49 0.189
731
P PRP019 Peripheral Nervous System Disease 57 0.189
732
c ATM011 Autoimmune Hepatitis 62 0.189
733
PNM008 Pneumothorax 54 0.189
734
CRB037 Cerebral Palsy 67 0.189
735
CHL004 Cholelithiasis 48 0.189
736
ATN004 Autonomic Neuropathy 42 0.189
737
c SCN007 Secondary Hyperparathyroidism 51 0.189
738
MDD011 Mood Disorder 62 0.189
739
c NPH032 Nephronophthisis 4 45 0.189
740
ATN005 Autonomic Dysfunction 45 0.189
741
TRC037 Tracheobronchomalacia 23 0.189
742
P EYD002 Eye Disease 57 0.189
743
HPT022 Hepatoblastoma 54 0.189
744
ILS001 Ileus 49 0.189
745
P MSC005 Muscular Dystrophy 66 0.189
746
P NRP001 Neuropathy 59 0.189
747
OPT032 Optic Pathway Glioma 34 0.189
749
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 0.189
750
ACR020 Acropectorovertebral Dysplasia 23 0.164
751
c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 56 0.164
752
c ORF034 Orofaciodigital Syndrome Vi 55 0.164
753
c 46X049 46,xy Sex Reversal 2 52 0.164
754
MSC007 Muscle Hypertrophy 64 0.164
755
ATS009 Autosomal Genetic Disease 24 0.164
756
P HYP730 Hypogonadotropic Hypogonadism 54 0.164
757
P PNM006 Pneumoconiosis 55 0.164
758
P PRK039 Parkinsonism 55 0.164
759
THY121 Thyroid Gland Anaplastic Carcinoma 66 0.164
760
FBR009 Fibrous Dysplasia 48 0.164
761
ESP029 Esophageal Atresia/tracheoesophageal Fistula 27 0.164
762
P ANR048 Aniridia 1 66 0.164
763
c TWN011 Townes-Brocks Syndrome 1 35 0.164
764
CRP032 Corpus Callosum, Agenesis of 49 0.164
765
INF058 Inflammatory Myofibroblastic Tumor 45 0.164
766
P SCL018 Scoliosis 57 0.164
767
AND014 Androgenic Alopecia 46 0.164
768
P PNT019 Pontocerebellar Hypoplasia 45 0.164
769
CRN167 Caronte 8 0.164
770
P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52 0.164
771
c PLM164 Pulmonary Hypertension, Primary, 1 80 0.164
772
c JBR021 Joubert Syndrome 18 25 0.164
773
PRP009 Peripartum Cardiomyopathy 54 0.164
774
P MYM013 Moyamoya Disease 1 60 0.164
775
OHD003 Ohdo Syndrome, X-Linked 29 0.164
776
HND015 Hand Skill, Relative 29 0.164
777
TST044 Testicular Torsion 45 0.164
778
P PTS002 Ptosis 52 0.164
779
RHM028 Rheumatic Heart Disease 56 0.164
780
NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 49 0.164
781
P CYS039 Cystic Kidney Disease 52 0.164
782
DBL002 Double Outlet Right Ventricle 57 0.164
783
PRG009 Progressive Multifocal Leukoencephalopathy 58 0.164
784
BRN024 Bronchitis 67 0.164
785
P PLC011 Pilocytic Astrocytoma 55 0.164
786
PTT009 Pituitary Gland Disease 53 0.164
787
CNJ018 Conjunctival Squamous Cell Carcinoma 41 0.164
788
PPT001 Peptic Esophagitis 51 0.164
789
HYP006 Hypertensive Heart Disease 48 0.164
790
ANT018 Anthracosis 51 0.164
791
P NNT058 Neonatal Diabetes 52 0.164
792
PSD009 Pseudohermaphroditism 47 0.164
793
PPL009 Papillary Craniopharyngioma 28 0.164
794
MSC157 Muscular Dystrophy, Duchenne Type 79 0.164
795
c NPH019 Nephronophthisis 1 51 0.164
796
c ORF035 Orofaciodigital Syndrome Iv 49 0.164
797
ALD013 Aldosterone-Producing Adenoma 36 0.164
798
SPN036 Spinal Chordoma 30 0.164
799
OVR094 Ovarian Epithelial Cancer 39 0.164
800
LMB050 Limbal Stem Cell Deficiency 50 0.164
801
FCL010 Focal Epithelial Hyperplasia 37 0.164
802
P PLM034 Pulmonary Emphysema 58 0.164
803
P ADT009 Auditory Neuropathy Spectrum Disorder 33 0.164
804
P INT070 Intestinal Obstruction 57 0.164
806
RNL078 Renal Dysplasia 46 0.164
807
MCR103 Microtia 40 0.164
808
P ALP061 Alopecia, Androgenetic, 1 49 0.134
809
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 54 0.134
810
PSD046 Pseudotrisomy 13 Syndrome 28 0.134
811
c BRD010 Bardet-Biedl Syndrome 1 64 0.134
812
P LKM062 Leukemia, Acute Lymphoblastic 69 0.134
813
BLD170 Bladder Exstrophy and Epispadias Complex 42 0.134
814
VLP002 Valproate Embryopathy 38 0.134
815
HMM004 Hamamy Syndrome 39 0.134
816
SSS001 Sessile Serrated Polyposis Cancer Syndrome 21 0.134
817
INT017 Intestinal Schistosomiasis 51 0.134
818
P GRF003 Graft-Versus-Host Disease 71 0.134
819
DSS032 Disease by Infectious Agent 55 0.134
820
LWG006 Low Grade Glioma 41 0.134
821
MLD018 Mild Cognitive Impairment 48 0.134
822
AMB002 Amblyopia 49 0.134
823
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.134
824
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.134
825
RLF001 Rela Fusion-Positive Ependymoma 16 0.134
826
SPP007 Suppression Amblyopia 38 0.134
827
THY111 Thyroid Carcinoma, Familial Medullary 67 0.134
828
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58 0.134
829
P PLY147 Polydactyly, Postaxial, Type A1 50 0.134
830
ANK020 Ankyloglossia with or Without Tooth Anomalies 46 0.134
831
P HYD033 Hydrolethalus Syndrome 1 44 0.134
832
c AXN009 Axenfeld-Rieger Syndrome, Type 1 48 0.134
833
HYP791 Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate 43 0.134
834
P LYM118 Lymphoma 69 0.134
835
DFF010 Diffuse Alopecia Areata 23 0.134
836
c SPN305 Spinocerebellar Ataxia 11 44 0.134
837
c HPT073 Hepatitis C Virus 71 0.134
838
HLT001 Holt-Oram Syndrome 66 0.134
839
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.134
840
P FRN036 Frontonasal Dysplasia 1 43 0.134
841
c MST023 Mesothelioma, Malignant 56 0.134
842
TRT017 Teratoma, Ovarian 28 0.134
843
PHS025 Phosphatase, Acid, of Tissues 28 0.134
844
SCH055 Schilbach-Rott Syndrome 24 0.134
845
MCC012 Mccune-Albright Syndrome 69 0.134
846
EPD070 Epidermoid Cysts 35 0.134
847
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 52 0.134
848
c MJR024 Major Affective Disorder 9 40 0.134
849
c GLM047 Glioma Susceptibility 3 32 0.134
850
CYN002 Cyanosis, Transient Neonatal 43 0.134
851
c BRD017 Bardet-Biedl Syndrome 5 38 0.134
852
c BSL028 Basal Cell Carcinoma 5 15 0.134
853
P MTR004 Maturity-Onset Diabetes of the Young 66 0.134
854
c JBR016 Joubert Syndrome 10 42 0.134
855
c MJR022 Major Affective Disorder 8 37 0.134
856
c NPH071 Nephronophthisis 14 44 0.134
857
c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29 0.134
858
LCH016 Lichen Sclerosus Et Atrophicus 41 0.134
859
P BNC003 Bone Cancer 58 0.134
860
EMB018 Embryonal Tumor with Multilayered Rosettes, C19mc-Altered 10 0.134
861
P PLY019 Polyneuropathy 53 0.134
862
c ACT068 Acute Cystitis 61 0.134
863
TRC005 Tracheal Stenosis 43 0.134
864
SKN018 Skin Hemangioma 29 0.134
865
P PRL003 Proliferative Glomerulonephritis 43 0.134
866
MSN001 Mesangial Proliferative Glomerulonephritis 44 0.134
867
c INF023 Inflammatory Breast Carcinoma 48 0.134
868
OVR109 Ovarian Germ Cell Teratoma 32 0.134
869
c MLG049 Malignant Syringoma 37 0.134
870
c HPT001 Hepatitis C 61 0.134
871
P SYR003 Syringoma 36 0.134
872
HMN004 Hemangioma of Liver 35 0.134
873
BNG018 Benign Paroxysmal Positional Nystagmus 40 0.134
874
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.134
875
P HYP024 Hypoparathyroidism 55 0.134
876
MGC001 Megacolon 48 0.134
877
P GLM007 Glomerulonephritis 59 0.134
878
MYF001 Myofibroma 42 0.134
879
PST011 Pustulosis of Palm and Sole 52 0.134
880
EMP001 Empty Sella Syndrome 42 0.134
881
P BPL003 Bipolar Disorder 56 0.134
882
P HRD001 Hereditary Multiple Exostoses 48 0.134
883
TRT001 Teratocarcinoma 41 0.134
884
BNS001 Bone Osteosarcoma 40 0.134
885
SRS001 Serous Cystadenocarcinoma 51 0.134
886
P THY023 Thymoma 64 0.134
887
THY125 Thyroid Gland Medullary Carcinoma 48 0.134
888
NRL002 Neurilemmomatosis 52 0.134
889
LYS002 Lysosomal Storage Disease 51 0.134
890
CNG184 Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects 56 0.134
891
c BRD015 Bardet-Biedl Syndrome 3 48 0.134
892
SPP011 Suppression of Tumorigenicity 12 61 0.134
893
P ORT004 Orthostatic Intolerance 62 0.134
894
OST024 Osteoporosis-Pseudoglioma Syndrome 60 0.134
895
c THY107 Thymoma, Familial 42 0.134
896
P CHR573 Choroid Plexus Cancer 48 0.134
897
KPS002 Kaposiform Hemangioendothelioma 50 0.134
898
NNT024 Neonatal Stroke 31 0.134
899
PCH002 Pachygyria 32 0.134
900
P SMP003 Simpson-Golabi-Behmel Syndrome 50 0.134
901
CRT057 Critical Congenital Heart Disease 21 0.134
902
HRD104 Hereditary Multiple Osteochondromas 43 0.134
903
STM007 Stomatitis 52 0.134
904
P MYP004 Myopathy 67 0.134
905
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.134
906
P HYP087 Hypotrichosis 41 0.134
907
ULC007 Ulcerative Stomatitis 38 0.134
908
BWN006 Bowen's Disease 32 0.134
909
CHR244 Chromosome 3p Duplication 14 0.134
910
P PSR002 Psoriasis 63 0.134
911
P INF038 Influenza 68 0.134
912
MNN004 Meningothelial Meningioma 25 0.134
913
P AMY004 Amyloidosis 69 0.134
914
CHL061 Childhood Leukemia 47 0.134
916
NRF007 Neurofibroma 64 0.134
917
DXT002 Dextrocardia with Situs Inversus 44 0.134
918
HMN016 Hemangioendothelioma 35 0.134
919
NPH018 Nephrogenic Systemic Fibrosis 49 0.134
920
DYS038 Dysgnathia Complex 19 0.134
921
SX2004 Sox2 Disorder 13 0.134
922
P ZLL001 Zellweger Syndrome 65 0.134
923
c ACT135 Acute Graft Versus Host Disease 51 0.134
924
MLG164 Malignant Epithelial Tumor of Ovary 24 0.134
925
DST089 Distal Trisomy 3p 10 0.134
926
CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 18 0.134
927
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.095
928
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.095
929
LYM133 Lymphoma, Hodgkin, Classic 74 0.095
930
THR017 Thoracoabdominal Syndrome 40 0.095
931
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 0.095
932
c FNC043 Fanconi Anemia, Complementation Group E 62 0.095
933
P PRR016 Pierre Robin Syndrome 50 0.095
934
ISL014 Isolated Growth Hormone Deficiency, Type Ia 54 0.095
935
PRG014 Progesterone Resistance 42 0.095
936
PTC001 Potocki-Shaffer Syndrome 41 0.095
937
c MSM022 Mismatch Repair Cancer Syndrome 1 69 0.095
938
MLT134 Multiple Pterygium Syndrome, Lethal Type 56 0.095
939
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.095
940
c MCK030 Meckel Syndrome, Type 7 49 0.095
941
ART001 Arterial Tortuosity Syndrome 64 0.095
942
ACT238 Acth Deficiency, Isolated 52 0.095
943
c MCR261 Microphthalmia, Syndromic 2 50 0.095
944
ULN017 Ulna and Fibula, Absence of, with Severe Limb Deficiency 35 0.095
945
ACR041 Acromelic Frontonasal Dysostosis 53 0.095
946
c MCR133 Microvascular Complications of Diabetes 4 41 0.095
947
MMM002 Mammary-Digital-Nail Syndrome 23 0.095
948
c LYS021 Loeys-Dietz Syndrome 3 56 0.095
949
FRN006 Frontotemporal Dementia 68 0.095
950
c HLP022 Holoprosencephaly 8 22 0.095
951
c PRT060 Parietal Foramina 2 30 0.095
952
c HYP271