Search results for pax2

452 hits were found for pax2

# Family MCID Name MIFTS Score
1
PPL048 Papillorenal Syndrome 58 56.368
2
c FCL085 Focal Segmental Glomerulosclerosis 7 32 40.549
3
GNT179 Genetic Steroid-Resistant Nephrotic Syndrome 40 37.730
5
CKT002 Cakut 48 21.374
6
P FCL005 Focal Segmental Glomerulosclerosis 57 18.545
7
P NPH012 Nephrotic Syndrome 62 16.918
8
P KDN018 Kidney Disease 72 16.581
9
CLB010 Coloboma of Macula 53 16.385
10
RNL025 Renal Hypoplasia 46 16.206
11
MCR013 Microphthalmia 60 14.372
12
P CYS039 Cystic Kidney Disease 52 13.757
13
OLG021 Oligomeganephronia 39 13.398
14
c VSC019 Vesicoureteral Reflux 1 56 12.579
15
END086 End Stage Renal Disease 54 12.213
16
NLP001 Nail-Patella Syndrome 63 11.658
17
c WLM013 Wilms Tumor 1 65 11.608
18
RNL114 Renal Cell Carcinoma, Nonpapillary 79 11.552
19
RNL051 Renal Cysts and Diabetes Syndrome 57 11.448
20
CLR030 Clear Cell Renal Cell Carcinoma 54 11.109
21
MLT084 Multicystic Dysplastic Kidney 41 11.002
22
DNY001 Denys-Drash Syndrome 57 10.939
23
END062 Endometrial Hyperplasia 48 10.872
24
FND002 Fundus Dystrophy 55 10.761
25
ONC007 Oncocytoma 49 10.750
26
P RNL100 Renal Hypodysplasia/aplasia 1 63 10.614
27
RNL078 Renal Dysplasia 46 10.518
28
P SNS001 Sensorineural Hearing Loss 59 10.449
29
NPH001 Nephrogenic Adenoma 30 10.356
30
P BRN006 Branchiootorenal Syndrome 50 10.312
31
CHR103 Charge Syndrome 65 10.191
32
HMN009 Hemangioblastoma 53 10.040
33
END075 Endocervical Adenocarcinoma 37 9.963
34
ADN012 Adenocarcinoma in Situ 42 9.963
35
RTN017 Retinal Detachment 60 9.713
36
P PRM002 Primary Hyperoxaluria 65 9.398
37
DFF021 Diffuse Mesangial Sclerosis 39 9.019
38
CLR003 Clear Cell Adenocarcinoma 50 9.001
39
SCL014 Scleral Staphyloma 22 8.791
40
P BRD002 Bardet-Biedl Syndrome 66 8.742
41
CLB026 Colobomatous Microphthalmia 46 8.325
42
RNL109 Renal Hypoplasia, Bilateral 14 8.156
43
HYD002 Hydronephrosis 58 7.618
44
END007 Endosalpingiosis 37 7.464
45
URN010 Urinary Tract Obstruction 55 7.437
46
P CNG499 Congenital Anomalies of Kidney and Urinary Tract 2 52 7.261
47
RNL065 Renal Cell Carcinoma, Papillary, 1 79 7.045
48
CLB003 Coloboma of Optic Nerve 44 7.043
49
P HLP001 Holoprosencephaly 69 7.043
50
OPT070 Optic Nerve Hypoplasia, Bilateral 55 6.983
51
c TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 48 6.873
52
PTT002 Potter's Syndrome 39 6.803
53
P ANR048 Aniridia 1 66 6.494
54
P TWN003 Townes-Brocks Syndrome 55 6.390
55
P PRS062 Persistent Hyperplastic Primary Vitreous 47 6.336
56
OLG003 Oligohydramnios 51 6.336
57
P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 60 6.304
58
RTT003 Rete Testis Adenoma 22 6.304
59
URT020 Ureterocele 36 6.266
60
P RTN008 Retinitis Pigmentosa 79 6.216
61
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 65 6.216
62
BLT024 Bilateral Renal Aplasia 17 6.216
63
FRS002 Frasier Syndrome 54 6.216
64
NPH002 Nephrogenic Adenoma of Urinary Bladder 23 6.216
65
BLD040 Bladder Benign Neoplasm 19 6.097
66
EPD014 Epididymis Adenocarcinoma 29 6.097
67
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 6.097
68
PRN038 Prune Belly Syndrome 55 6.097
69
P FNC026 Fanconi Renotubular Syndrome 1 49 6.097
70
P BRN042 Branchiootic Syndrome 34 6.097
71
FLL003 Fallopian Tube Endometrioid Adenocarcinoma 32 6.097
72
END018 Endometrium Carcinoma in Situ 29 6.097
73
EPD012 Epididymal Neoplasm 22 6.097
74
WLF003 Wolffian Duct Adenoma 27 6.097
75
RNL013 Renal Adenoma 29 6.097
76
URT031 Ureteral Disease 40 6.097
77
BLD003 Bladder Lateral Wall Cancer 20 6.097
78
EPD017 Epididymis Cancer 28 6.097
79
NSL005 Nasal Cavity Olfactory Neuroblastoma 27 6.097
80
CRV006 Cervix Endometriosis 21 6.097
81
KDN016 Kidney Benign Neoplasm 30 6.097
82
NPH008 Nephrogenic Adenoma of the Urethra 22 6.097
83
BLD043 Bladder Clear Cell Adenocarcinoma 25 6.097
84
URT024 Urethra Clear Cell Adenocarcinoma 26 6.097
85
URT035 Urethral Benign Neoplasm 37 6.097
86
c CHR684 Chronic Kidney Disease 74 3.189
87
END057 Endometrial Cancer 71 2.890
88
P OVR042 Ovarian Cancer 88 2.834
90
PRT251 Proteinuria, Chronic Benign 58 2.628
91
URT010 Ureteral Obstruction 45 2.509
92
RNL077 Renal Fibrosis 46 1.960
93
P PLY014 Polycystic Kidney Disease 71 1.906
94
P MYP006 Myopia 55 1.871
95
c BRN108 Branchiootic Syndrome 1 63 1.847
96
P ADN016 Adenocarcinoma 63 1.763
97
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 1.761
98
HPT011 Hepatocellular Clear Cell Carcinoma 45 1.704
99
P LNG032 Lung Cancer 98 1.688
100
P END044 Endometriosis 62 1.661
101
P BRS047 Breast Cancer 97 1.649
102
OVR105 Ovarian Serous Carcinoma 37 1.627
103
P TRT010 Teratoma 50 1.614
104
CLF001 Cleft Lip 54 1.543
105
CLF004 Cleft Lip/palate 57 1.543
106
P HPT023 Hepatocellular Carcinoma 95 1.530
107
P SZR006 Seizure Disorder 69 1.513
108
P EYD002 Eye Disease 57 1.483
109
ADN018 Adenoma 58 1.450
110
PNC041 Pancreatic Ductal Adenocarcinoma 51 1.434
111
c HYP595 Hypertension, Essential 84 1.418
112
OVR094 Ovarian Epithelial Cancer 39 1.416
113
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58 1.380
114
CYS009 Cystadenoma 43 1.380
115
P KDN017 Kidney Cancer 60 1.380
116
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 1.327
117
OBS082 Obstructive Nephropathy 41 1.313
118
CRV035 Cervical Cancer 72 1.284
119
SRC014 Sarcoma 64 1.284
120
SPN035 Spindle Cell Sarcoma 51 1.284
121
P MCR010 Microcephaly 59 1.269
122
P RNL123 Renal Agenesis, Bilateral 37 1.269
123
ACN001 Acinar Cell Carcinoma 44 1.253
124
RTN123 Retinochoroidal Coloboma 18 1.253
125
END041 Endometrial Adenocarcinoma 63 1.192
126
P PRS040 Prostate Cancer 95 1.184
127
c SML038 Small Cell Cancer of the Lung 69 1.184
128
GT001 Gout 63 1.164
129
PST092 Posttransplant Acute Limbic Encephalitis 29 1.122
130
THY029 Thyroid Carcinoma 54 1.118
131
MTN001 Metanephric Adenoma 39 1.033
132
P NRB001 Neuroblastoma 66 1.033
133
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.018
134
PRP030 Purpura 54 1.018
135
HYP266 Hypoxia 56 1.018
136
GLM044 Glomerular Disease 34 1.018
137
P MDL005 Medulloblastoma 75 1.001
138
NPH009 Nephrolithiasis 54 1.001
139
PRS045 Prostatic Hypertrophy 52 1.001
140
ESP021 Esophageal Cancer 84 0.984
141
PRS129 Prostatic Hyperplasia, Benign 48 0.984
142
LYM040 Lymphoblastic Lymphoma 53 0.984
143
PRS021 Prostatic Adenoma 43 0.984
144
P RHB003 Rhabdomyosarcoma 66 0.984
145
GLM045 Glioma 62 0.984
146
GLL048 Glial Tumor 52 0.984
147
CHL010 Childhood Kidney Cell Carcinoma 38 0.984
148
FRY006 Fryns Microphthalmia Syndrome 52 0.974
149
SVR004 Severe Combined Immunodeficiency 71 0.967
150
MYP106 Myopathy, Myosin Storage, Autosomal Recessive 33 0.948
151
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.948
152
P NPH005 Nephronophthisis 59 0.948
153
CHL049 Childhood Endodermal Sinus Tumor 19 0.948
154
TST018 Testicular Yolk Sac Tumor 39 0.948
155
P END039 Endodermal Sinus Tumor 42 0.948
156
OVR012 Ovarian Serous Cystadenocarcinoma 55 0.948
157
CHR176 Chromophil Renal Cell Carcinoma 23 0.948
158
VNH007 Von Hippel-Lindau Syndrome 73 0.929
159
P HYD006 Hydrocephalus 63 0.929
160
CLL002 Collecting Duct Carcinoma 53 0.929
161
P FML284 Familial Vesicoureteral Reflux 30 0.929
162
OPT077 Optic Disc Pit 17 0.929
163
c JVN041 Juvenile Nephronophthisis 45 0.929
164
KPS004 Kaposi Sarcoma 76 0.908
165
SRC027 Sarcoma, Synovial 58 0.908
166
LNG039 Lung Squamous Cell Carcinoma 57 0.908
167
ANG018 Angiomyolipoma 45 0.908
168
CHR177 Chromophobe Renal Cell Carcinoma 54 0.908
169
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.886
170
c ATS007 Autism Spectrum Disorder 72 0.886
171
TRT017 Teratoma, Ovarian 28 0.886
172
P URN019 Urinary Tract Infection 49 0.886
173
OVR109 Ovarian Germ Cell Teratoma 32 0.886
174
HRT011 Heart Septal Defect 49 0.886
175
P VNT002 Ventricular Septal Defect 58 0.886
176
PPL002 Papillary Carcinoma 46 0.886
177
c NPH055 Nephrotic Syndrome, Type 1 52 0.886
178
LBR025 Lobar Holoprosencephaly 47 0.876
179
c NPH049 Nephrotic Syndrome, Type 2 52 0.863
180
PLY150 Polykaryocytosis Inducer 29 0.863
181
CHN065 Choanal Atresia, Posterior 48 0.863
182
NRL016 Neural Tube Defects 81 0.863
183
P STR020 Strabismus 56 0.863
184
HDR004 Hidradenoma 37 0.863
185
P GLM007 Glomerulonephritis 59 0.863
186
c DFN107 Deafness, Autosomal Dominant 10 40 0.863
187
BRN071 Brain Injury 50 0.863
188
CLR013 Clear Cell Hidradenoma 26 0.863
189
MCH006 Mechanical Strabismus 40 0.863
190
TRM010 Traumatic Brain Injury 50 0.863
191
IRN008 Iron Overload in Africa 51 0.841
192
RJS001 Ruijs-Aalfs Syndrome 47 0.841
193
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.841
194
HPT079 Hepatoid Adenocarcinoma 39 0.841
195
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.841
196
c HPT073 Hepatitis C Virus 71 0.841
197
ADL096 Adult Hepatocellular Carcinoma 60 0.841
198
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.841
199
PDT042 Pediatric Hepatocellular Carcinoma 50 0.841
200
PTY007 Pityriasis Rotunda 26 0.841
201
FBR086 Fibrolamellar Carcinoma 59 0.841
202
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 0.837
203
FRG015 Fragile Site 10q25 9 0.837
204
HNC001 Henoch-Schoenlein Purpura 56 0.837
205
c ACT068 Acute Cystitis 61 0.837
206
c ACT071 Acute Kidney Failure 60 0.837
207
PTH003 Pathologic Nystagmus 52 0.837
208
P RTN209 Retinoschisis 1, X-Linked, Juvenile 59 0.826
209
c HYP521 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 26 0.809
210
P BNG032 Benign Mesothelioma 53 0.809
211
CRN311 Coronary Ostial Stenosis or Atresia 19 0.809
212
c HYP794 Hyperoxaluria, Primary, Type I 63 0.777
213
NRR001 Neuroretinitis 42 0.777
214
c HYP546 Hypogonadotropic Hypogonadism 20 with or Without Anosmia 23 0.777
215
CYT005 Cytomegalovirus Retinitis 50 0.777
216
HYP014 Hyperuricemia 51 0.777
217
RTN023 Retinitis 45 0.777
218
CLR017 Clear Cell Sarcoma 44 0.777
219
17Q009 17q12 Recurrent Deletion Syndrome 18 0.777
220
P HYP069 Hyperparathyroidism 62 0.739
221
c SCN007 Secondary Hyperparathyroidism 51 0.739
223
ADL002 Adult Syndrome 69 0.706
224
RNL094 Renal Dysplasia, Cystic 42 0.706
225
PLN006 Poland Syndrome 45 0.706
226
ADP007 Adie Pupil 40 0.706
227
LPD016 Lipoid Proteinosis of Urbach and Wiethe 50 0.706
228
LYM004 Lymphoid Interstitial Pneumonia 49 0.706
229
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.706
230
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.706
231
P OPT006 Optic Nerve Disease 57 0.706
232
BRN121 Branchiootorenal/branchiootic Syndrome 21 0.706
233
HNM002 Hinman Syndrome 26 0.706
234
AST006 Astigmatism 46 0.689
235
CYT002 Cytokine Deficiency 43 0.689
236
CRC021 Carcinosarcoma 62 0.689
238
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.624
239
DNR002 Duane-Radial Ray Syndrome 53 0.569
240
MYL005 Myelofibrosis 70 0.504
241
P PNC035 Pancreatic Cancer 86 0.504
242
SRS001 Serous Cystadenocarcinoma 51 0.449
243
HLX001 Helix Syndrome 47 0.360
244
P CLB034 Coloboma, Ocular, Autosomal Dominant 48 0.360
245
PSD009 Pseudohermaphroditism 47 0.360
246
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.339
247
P LKM062 Leukemia, Acute Lymphoblastic 69 0.339
248
PTR032 Peters-Plus Syndrome 63 0.339
249
P CTR002 Cataract 59 0.339
250
P LKM002 Leukemia 66 0.317
251
P RRT020 Rare Tumor 39 0.317
252
c PRG020 Paragangliomas 3 39 0.294
253
P ALP004 Alport Syndrome 70 0.294
254
P GND004 Gonadal Dysgenesis 46 0.294
255
HRN029 Hearing Loss, Noise-Induced 37 0.268
256
c HYP523 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29 0.268
257
XLN231 X-Linked Alport Syndrome 41 0.268
258
P OVR010 Ovarian Brenner Tumor 39 0.268
259
P CRN025 Corneal Dystrophy 49 0.268
260
URN009 Urinary System Disease 47 0.268
261
SPP011 Suppression of Tumorigenicity 12 61 0.268
262
c EXD008 Exudative Vitreoretinopathy 1 71 0.240
263
P MMB011 Membranous Nephropathy 50 0.240
264
ISC004 Ischemia 61 0.240
265
c ANT085 Anterior Segment Dysgenesis 5 44 0.240
266
AND002 Androgen Insensitivity Syndrome 63 0.240
268
ISL011 Isolated Aniridia 37 0.240
269
P OVR082 Overgrowth Syndrome 42 0.240
270
P RTN024 Retinoblastoma 72 0.208
271
AGN016 Aging 54 0.208
272
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 0.208
273
SCT005 Scott Syndrome 51 0.208
274
c MCR115 Microvascular Complications of Diabetes 5 65 0.208
275
c MCR112 Microvascular Complications of Diabetes 2 42 0.208
276
ERL051 Early Response to Neural Induction Gene 8 0.208
277
P SML001 Small Cell Carcinoma 52 0.208
278
c CNG006 Congenital Hypothyroidism 63 0.208
279
P MCR129 Microvascular Complications of Diabetes 1 68 0.208
280
CLF027 Cleft Palate, Isolated 64 0.208
281
EWN003 Ewing Sarcoma 70 0.208
282
DGR001 Digeorge Syndrome 62 0.208
283
P UVT001 Uveitis 57 0.208
284
HYP080 Hypogonadism 49 0.208
285
P HYP086 Hypothyroidism 69 0.208
286
NRN001 Neuroendocrine Carcinoma 47 0.208
287
P HYP024 Hypoparathyroidism 55 0.208
288
P PYL005 Pyelonephritis 56 0.208
289
SRC002 Sarcomatoid Renal Cell Carcinoma 41 0.208
290
GLC084 Glaucoma, Normal Tension 45 0.208
291
HYD005 Hydrocele 46 0.208
292
GRM010 Germ Cells Tumors 33 0.208
293
MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28 0.208
294
P VTR007 Vitreoretinopathy 45 0.208
295
P OCL001 Ocular Albinism 47 0.170
296
P CRB045 Cerebellar Hypoplasia 40 0.170
297
c SPL024 Split-Hand/foot Malformation 3 44 0.170
298
P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 54 0.170
299
P ANT088 Anterior Segment Dysgenesis 53 0.170
300
c MCR350 Microphthalmia, Isolated, with Coloboma 5 21 0.170
301
P HYP750 Hypertriglyceridemia, Familial 62 0.170
302
P MTR004 Maturity-Onset Diabetes of the Young 66 0.170
303
TTH002 Tooth Agenesis 61 0.170
304
MCN001 Mucinous Adenocarcinoma 49 0.170
305
P RNL017 Renal Oncocytoma 54 0.170
306
c ADL052 Adult Acute Lymphocytic Leukemia 45 0.170
307
P RTN018 Retinal Disease 53 0.170
308
PRV003 Perivascular Epithelioid Cell Tumor 38 0.170
309
AMN001 Amenorrhea 53 0.170
310
P GRV001 Graves' Disease 54 0.170
311
CRN027 Corneal Neovascularization 47 0.170
312
VGN017 Vaginal Cancer 58 0.170
313
P LYN001 Lynch Syndrome 76 0.170
314
RHB001 Rhabdoid Cancer 68 0.170
315
P CRV031 Cervical Adenocarcinoma 48 0.170
316
APP009 Appendix Adenocarcinoma 47 0.170
317
END001 Endometrial Mucinous Adenocarcinoma 19 0.170
318
CNS004 Constipation 56 0.170
319
HRS011 Horseshoe Kidney 31 0.170
320
CRB209 Cerebellar Malformation 22 0.170
321
c LRG001 Large Cell Carcinoma 48 0.170
322
P WRD001 Waardenburg's Syndrome 60 0.170
323
ALB002 Albinism 47 0.170
324
47X002 47,xyy 48 0.170
325
CRN088 Craniorachischisis 35 0.170
326
CNG506 Congenital Amyoplasia 27 0.170
327
P BCK002 Beckwith-Wiedemann Syndrome 61 0.120
328
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.120
329
c ORF037 Orofaciodigital Syndrome I 59 0.120
330
c SPL070 Split-Hand/foot Malformation 2 32 0.120
331
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 50 0.120
332
P ATX030 Ataxia-Telangiectasia 80 0.120
333
c BRD010 Bardet-Biedl Syndrome 1 64 0.120
334
c MTC054 Mitochondrial Dna Depletion Syndrome 7 53 0.120
335
c MCR133 Microvascular Complications of Diabetes 4 41 0.120
336
TBL029 Tubulin, Beta 28 0.120
337
CVT001 Cavitary Optic Disc Anomalies 38 0.120
338
DSS032 Disease by Infectious Agent 55 0.120
339
P OPN001 Open-Angle Glaucoma 55 0.120
340
CRB004 Cerebral Artery Occlusion 46 0.120
341
P PRK057 Parkinson Disease, Late-Onset 79 0.120
342
c BRN131 Branchiootorenal Syndrome 1 45 0.120
343
P CNR004 Cone-Rod Dystrophy 2 75 0.120
344
CRZ001 Crouzon Syndrome 64 0.120
345
HMH004 Hemihyperplasia, Isolated 41 0.120
346
MWT001 Mowat-Wilson Syndrome 57 0.120
347
c AXN009 Axenfeld-Rieger Syndrome, Type 1 48 0.120
348
CLB022 Coloboma, Ocular, Autosomal Recessive 29 0.120
349
CRN288 Corneal Dystrophy, Band-Shaped 36 0.120
350
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.120
351
c TRC092 Trichorhinophalangeal Syndrome, Type I 54 0.120
352
P CND005 Cone Dystrophy 46 0.120
353
MYL020 Myelomeningocele 51 0.120
354
LRG014 Large Cell Neuroendocrine Carcinoma 44 0.120
355
c LSS005 Lissencephaly 1 57 0.120
356
P CRN038 Carney Complex Variant 63 0.120
357
MCR317 Macrophthalmia, Colobomatous, with Microcornea 18 0.120
358
JCB001 Jacobsen Syndrome 50 0.120
359
PFF001 Pfeiffer Syndrome 77 0.120
360
SPT006 Septooptic Dysplasia 62 0.120
361
c MYT021 Myotonic Dystrophy 1 67 0.120
362
c OPT053 Optic Atrophy 1 62 0.120
363
c CRN139 Cornelia De Lange Syndrome 1 61 0.120
364
c MCR113 Microvascular Complications of Diabetes 3 52 0.120
365
c HYP511 Hypogonadotropic Hypogonadism 15 with or Without Anosmia 28 0.120
366
c BRD014 Bardet-Biedl Syndrome 2 53 0.120
367
c BRD013 Bardet-Biedl Syndrome 12 44 0.120
368
c MCR130 Microvascular Complications of Diabetes 6 41 0.120
369
c MCR120 Microvascular Complications of Diabetes 7 47 0.120
370
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 41 0.120
371
c RTN114 Retinitis Pigmentosa 58 40 0.120
372
c HYP538 Hypogonadotropic Hypogonadism 17 with or Without Anosmia 25 0.120
373
c BRD016 Bardet-Biedl Syndrome 4 44 0.120
374
c BRD019 Bardet-Biedl Syndrome 7 43 0.120
375
ACT003 Acute Kidney Tubular Necrosis 46 0.120
376
c GLC092 Glaucoma, Primary Open Angle 61 0.120
377
P GLM040 Glioma Susceptibility 1 70 0.120
378
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 0.120
379
CHR619 Chromosome 2q35 Duplication Syndrome 64 0.120
380
WLL001 Williams-Beuren Syndrome 60 0.120
381
DYS018 Dysostosis 43 0.120
382
HYP060 Hyperinsulinism 53 0.120
383
P CRN249 Cornea Plana 30 0.120
384
P ORF002 Orofacial Cleft 42 0.120
385
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.120
386
PRP027 Peripheral Vascular Disease 71 0.120
387
GLB002 Glioblastoma 67 0.120
388
IGG001 Iga Glomerulonephritis 50 0.120
389
P INF032 Infertility 60 0.120
390
TBL003 Tubular Adenocarcinoma 40 0.120
391
UTR024 Uterine Carcinosarcoma 58 0.120
392
RTN013 Retinal Hemangioblastoma 30 0.120
393
P HYP040 Hypospadias 51 0.120
394
P OVR049 Ovarian Disease 50 0.120
395
KRT008 Keratopathy 46 0.120
396
NRN004 Neuroendocrine Tumor 55 0.120
397
P HMN010 Hemangioma 61 0.120
398
P ADN017 Adenofibroma 33 0.120
399
NPH006 Nephrogenic Adenofibroma 21 0.120
400
P CRN037 Craniosynostosis 67 0.120
401
RTN020 Retinal Vascular Disease 45 0.120
402
CRB037 Cerebral Palsy 67 0.120
403
TLN003 Telangiectasis 51 0.120
404
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.120
405
FCL012 Facial Paralysis 49 0.120
406
P AXN002 Axenfeld-Rieger Syndrome 62 0.120
407
c DLT002 Dilated Cardiomyopathy 79 0.120
408
P MLN007 Male Infertility 56 0.120
409
SPR017 Spermatocele 35 0.120
410
JPN002 Japanese Encephalitis 61 0.120
411
CNG005 Congenital Aphakia 23 0.120
412
P PLY011 Polycystic Ovary Syndrome 57 0.120
413
HYP043 Hyperandrogenism 47 0.120
414
P CRN015 Cornelia De Lange Syndrome 67 0.120
415
P KLL001 Kallmann Syndrome 65 0.120
416
ATY005 Atypical Teratoid Rhabdoid Tumor 69 0.120
417
HMT002 Hematologic Cancer 61 0.120
418
PNC034 Pancreas Disease 49 0.120
419
PPL003 Papillary Cystadenocarcinoma 29 0.120
420
CYS014 Cystadenocarcinoma 51 0.120
421
c NPH019 Nephronophthisis 1 51 0.120
422
c LKM061 Leukemia, Acute Myeloid 83 0.120
423
P PLY006 Polydactyly 58 0.120
424
OST159 Osteogenic Sarcoma 66 0.120
425
c PNC106 Pancreatic Agenesis 1 51 0.120
426
P NSP012 Nasopharyngeal Carcinoma 60 0.120
427
c DFN163 Deafness, Autosomal Dominant 7 31 0.120
428
STR067 Stroke, Ischemic 79 0.120
429
P CHR345 Chronic Pain 50 0.120
430
P MYL006 Myeloid Leukemia 60 0.120
431
PLY012 Polyhydramnios 46 0.120
432
P CNG024 Congenital Nystagmus 35 0.120
433
P ORF001 Orofaciodigital Syndrome 50 0.120
434
HYD001 Hydranencephaly 43 0.120
435
CRB053 Cerebellar Agenesis 16 0.120
436
CHR178 Chromosomal Triplication 34 0.120
437
P BCL017 B-Cell Lymphoma 57 0.120
438
CRT015 Carotid Artery Occlusion 45 0.120
439
DRG003 Drug Dependence 46 0.120
440
IRR002 Irritable Bowel Syndrome 65 0.120
441
P MYT002 Myotonic Dystrophy 51 0.120
442
1Q2003 1q21.1 Recurrent Microdeletion 22 0.120
443
P DBT009 Diabetes Mellitus 67 0.120
444
P ENC004 Encephalitis 61 0.120
445
EXP004 Exophthalmos 50 0.120
446
GGN002 Gigantism 33 0.120
447
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.120
448
PNS014 Penis Agenesis 38 0.120
449
CLR112 Clear Cell Papillary Renal Cell Carcinoma 24 0.120
450
VLV050 Vulvar Adenocarcinoma 26 0.120
451
MLG164 Malignant Epithelial Tumor of Ovary 24 0.120
452
PLY100 Polyploidy 36 0.120
Content
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