Search results for rpe

1057 hits were found for rpe

# Family MCID Name MIFTS Score
2
CMB069 Combined Hamartoma of the Retina and Retinal Pigment Epithelium 21 16.271
3
SVN002 Sveinsson Chorioretinal Atrophy 45 10.262
4
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 10.067
5
P RTN016 Retinal Degeneration 52 9.802
6
P VTR007 Vitreoretinopathy 45 9.746
7
P RTN018 Retinal Disease 53 9.726
8
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 9.659
9
OPT070 Optic Nerve Hypoplasia, Bilateral 55 9.190
10
NRR001 Neuroretinitis 42 9.037
11
RTN023 Retinitis 45 9.029
12
c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 54 8.918
13
DRC001 Dracunculiasis 36 8.918
14
RTN017 Retinal Detachment 60 7.261
15
c MCR115 Microvascular Complications of Diabetes 5 65 7.080
16
P RTN008 Retinitis Pigmentosa 79 6.566
17
AGN016 Aging 54 5.897
18
P STR022 Stargardt Disease 61 5.626
19
P EYD002 Eye Disease 57 5.365
20
KHN001 Kuhnt-Junius Degeneration 48 4.760
21
FND002 Fundus Dystrophy 55 4.742
22
LTN004 Late-Onset Retinal Degeneration 60 4.656
23
c INH030 Inherited Retinal Disorder 28 4.527
24
P UVT001 Uveitis 57 4.415
25
MCL006 Macular Retinal Edema 56 4.299
26
CNT060 Central Serous Chorioretinopathy 39 4.247
27
MCR013 Microphthalmia 60 4.180
28
P MYP006 Myopia 55 4.013
29
LBR036 Leber Plus Disease 67 3.272
30
HYP266 Hypoxia 56 3.220
31
c MCL066 Macular Dystrophy, Vitelliform, 2 48 3.189
32
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 3.180
33
c MCR112 Microvascular Complications of Diabetes 2 42 3.104
34
P MCR129 Microvascular Complications of Diabetes 1 68 3.104
35
HYP066 Hyperglycemia 60 2.947
36
BST008 Bestrophinopathy, Autosomal Recessive 46 2.938
37
RTN020 Retinal Vascular Disease 45 2.904
38
P VTL001 Vitelliform Macular Dystrophy 45 2.752
39
DYN002 Doyne Honeycomb Retinal Dystrophy 44 2.701
40
48X005 48,xyyy 39 2.698
41
c MCL070 Macular Dystrophy, Patterned, 3 28 2.665
42
CHR081 Choroideremia 58 2.594
43
MCL003 Macular Holes 44 2.491
44
DBT006 Diabetic Macular Edema 48 2.379
45
P CNR004 Cone-Rod Dystrophy 2 75 2.322
46
CYT002 Cytokine Deficiency 43 2.316
47
c DWL002 Dowling-Degos Disease 1 58 2.279
48
c ATM099 Autoimmune Uveitis 44 2.276
49
c MCL061 Macular Dystrophy, Vitelliform, 4 21 2.260
50
c MCL056 Macular Dystrophy, Vitelliform, 5 21 2.260
51
RFR003 Refractive Error 41 2.199
52
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 2.111
53
PLM010 Pulmonary Edema 54 2.077
54
c STR084 Stargardt Disease 1 53 2.052
55
SCT002 Scotoma 42 2.010
56
P RTN022 Retinal Vein Occlusion 54 1.897
57
P USH001 Usher Syndrome 64 1.886
58
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 1.881
59
P DBT009 Diabetes Mellitus 67 1.878
60
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 1.862
61
RTC011 Reticular Dystrophy of Retinal Pigment Epithelium 18 1.815
62
c PST005 Posterior Uveitis 54 1.810
63
P NGH001 Night Blindness 52 1.802
64
P RTN024 Retinoblastoma 72 1.778
65
P CND005 Cone Dystrophy 46 1.769
66
SPN186 Spinal Cord Injury 61 1.731
67
ALB002 Albinism 47 1.731
68
CHR008 Choroiditis 48 1.719
69
PRR004 Preretinal Fibrosis 34 1.693
70
P MLN008 Melanoma 75 1.682
71
STR046 Stargardt Macular Degeneration 27 1.665
72
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 1.663
73
RTN003 Retinal Ischemia 48 1.655
74
BTT001 Bietti Crystalline Corneoretinal Dystrophy 48 1.640
75
P TRT010 Teratoma 50 1.638
76
P VSC007 Vascular Disease 62 1.615
77
FML292 Familial Drusen 34 1.603
78
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 1.586
79
PRT037 Pertussis 49 1.586
80
HLX001 Helix Syndrome 47 1.555
81
P MLN069 Melanoma, Uveal 59 1.553
82
P BRD002 Bardet-Biedl Syndrome 66 1.552
83
ART002 Arts Syndrome 66 1.549
84
c STR040 Stargardt Disease 3 34 1.544
85
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 1.520
86
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 1.520
87
PLY150 Polykaryocytosis Inducer 29 1.510
88
VTR010 Vitreoretinochoroidopathy 48 1.496
89
PNM008 Pneumothorax 54 1.469
90
c MCL059 Macular Dystrophy, Patterned, 1 29 1.459
91
ALL029 Allergic Disease 61 1.377
92
P OPT006 Optic Nerve Disease 57 1.370
93
P END047 Endophthalmitis 53 1.364
94
c BRD010 Bardet-Biedl Syndrome 1 64 1.359
95
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 1.359
96
PRP016 Paraplegia 52 1.353
97
TLN003 Telangiectasis 51 1.353
98
LYS002 Lysosomal Storage Disease 51 1.334
99
CLP005 Ciliopathy 41 1.334
100
ARG004 Argyria 26 1.334
101
P CTR002 Cataract 59 1.328
102
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.316
103
c EXD008 Exudative Vitreoretinopathy 1 71 1.316
104
WGN007 Wagner Vitreoretinopathy 34 1.310
105
INT323 Intraocular Pressure Quantitative Trait Locus 63 1.297
106
c CNR017 Cone-Rod Dystrophy 9 32 1.284
107
c MCL071 Macular Dystrophy, Patterned, 2 22 1.236
108
DPH001 Diphtheria 59 1.230
109
ATS010 Autosomal Recessive Disease 42 1.222
110
HMS001 Hemosiderosis 48 1.194
111
PHG002 Phagocyte Bactericidal Dysfunction 34 1.193
113
P PLY006 Polydactyly 58 1.189
114
P RRH023 Rare Hereditary Hemochromatosis 53 1.182
115
QDR001 Quadriplegia 49 1.178
116
DGN002 Degenerative Myopia 31 1.178
117
c BRD017 Bardet-Biedl Syndrome 5 38 1.176
118
c TYP009 Type 2 Diabetes Mellitus 92 1.138
119
CYS001 Cystic Fibrosis 77 1.138
120
ATM095 Autoimmune Disease 61 1.134
121
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58 1.121
122
AMB002 Amblyopia 49 1.113
123
SPP007 Suppression Amblyopia 38 1.113
124
P HRP006 Herpes Simplex 65 1.104
125
HMN047 Human Cytomegalovirus Infection 59 1.095
126
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 1.090
127
c RTN171 Retinitis Pigmentosa 59 35 1.088
128
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.077
129
c BRD011 Bardet-Biedl Syndrome 10 49 1.071
130
RTN203 Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole 11 1.069
131
P CNR040 Cone-Rod Dystrophy and Hearing Loss 1 26 1.069
132
c RTN177 Retinitis Pigmentosa 73 36 1.069
133
c RTN106 Retinitis Pigmentosa 51 36 1.069
135
FRY006 Fryns Microphthalmia Syndrome 52 1.058
136
IFP003 Ifap Syndrome 2 42 1.038
137
P CHR637 Choroidal Dystrophy, Central Areolar, 1 49 1.035
138
CHL014 Cholera 62 1.028
139
SVR004 Severe Combined Immunodeficiency 71 1.028
140
PPL021 Papilledema 49 1.018
141
c LBR011 Leber Congenital Amaurosis 16 38 1.007
142
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 1.007
143
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 62 1.007
144
LPD008 Lipid Metabolism Disorder 61 0.996
145
P VTR008 Vitreoretinal Degeneration 29 0.985
146
P SCK005 Sickle Cell Disease 56 0.985
147
P RRT020 Rare Tumor 39 0.985
148
P ANR048 Aniridia 1 66 0.974
149
CNC014 Cancer-Associated Retinopathy 41 0.974
150
SMT004 Smith-Lemli-Opitz Syndrome 69 0.950
151
INT075 Intracranial Hypertension 52 0.950
152
P GLM007 Glomerulonephritis 59 0.937
153
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 57 0.937
154
ATM076 Autoimmune Retinopathy 26 0.937
155
VGT001 Vogt-Koyanagi-Harada Disease 56 0.933
156
MCL029 Macular Degeneration, X-Linked Atrophic 17 0.931
157
c LBR013 Leber Congenital Amaurosis 3 46 0.924
158
CNT016 Central Retinal Vein Occlusion 54 0.924
159
CLB010 Coloboma of Macula 53 0.913
160
c RTN042 Retinitis Pigmentosa 12 42 0.910
161
P TBR001 Tuberous Sclerosis 69 0.910
162
SVR001 Severe Acute Respiratory Syndrome 68 0.910
163
P NRP001 Neuropathy 59 0.910
164
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 0.897
165
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.896
166
GYR004 Gyrate Atrophy of Choroid and Retina 58 0.887
167
P LBR014 Leber Congenital Amaurosis 4 56 0.870
168
CHR078 Chorioretinitis 50 0.866
169
VTR018 Vitreoretinal Degeneration, Snowflake Type 37 0.866
170
P NRB001 Neuroblastoma 66 0.866
171
BLN008 Blind Hypotensive Eye 16 0.849
172
c CHR449 Choroidal Dystrophy, Central Areolar 2 24 0.842
173
MND031 Mandibuloacral Dysplasia Progeroid Syndrome 33 0.832
174
c OPT053 Optic Atrophy 1 62 0.832
175
SHR107 Short Stature-Obesity Syndrome 25 0.832
176
PPL022 Papilloma 53 0.832
177
SQM002 Squamous Cell Papilloma 45 0.832
178
P SDR002 Siderosis 42 0.832
179
P RHB003 Rhabdomyosarcoma 66 0.832
180
P FML011 Familial Adenomatous Polyposis 71 0.816
181
ING001 Inguinal Hernia 59 0.813
182
P MTC069 Mitochondrial Disorders 57 0.813
183
ANG004 Angioid Streaks 40 0.811
184
47X002 47,xyy 48 0.811
185
P PNC035 Pancreatic Cancer 86 0.809
186
LYM009 Lymphocytic Choriomeningitis 46 0.792
187
SRS007 Sorsby Fundus Dystrophy 51 0.776
188
NRR002 Norrie Disease 60 0.769
189
IMM174 Immunodeficiency with Hyper-Igm, Type 1 64 0.769
190
CD4003 Cd40 Ligand Deficiency 54 0.769
191
c CNR025 Cone-Rod Dystrophy 15 35 0.756
192
c RTN213 Retinitis Pigmentosa 80 28 0.756
193
c RTN234 Retinitis Pigmentosa 90 23 0.746
194
END041 Endometrial Adenocarcinoma 63 0.744
195
AZS001 Azoospermia 45 0.744
196
c NNS043 Nonsyndromic Retinitis Pigmentosa 25 0.744
198
P OCL001 Ocular Albinism 47 0.733
199
STM007 Stomatitis 52 0.726
200
c GRV008 Graves Disease 1 54 0.713
201
P GRV001 Graves' Disease 54 0.713
202
HMP009 Haemophilus Influenzae 41 0.713
203
P BRS047 Breast Cancer 97 0.709
204
KRT002 Keratomalacia 54 0.707
205
RST023 Resting Heart Rate, Variation in 40 0.707
206
P PSD087 Pseudoxanthoma Elasticum 66 0.694
207
c HMC039 Hemochromatosis, Type 1 73 0.680
208
INS024 Insulin-Like Growth Factor I 77 0.680
209
P LKM062 Leukemia, Acute Lymphoblastic 69 0.669
210
P BCL017 B-Cell Lymphoma 57 0.666
211
RTN001 Retinal Vasculitis 46 0.660
212
P MLT020 Multiple Sclerosis 79 0.652
213
ACR006 Aceruloplasminemia 63 0.652
214
BCK003 Background Diabetic Retinopathy 46 0.652
215
c BRN108 Branchiootic Syndrome 1 63 0.645
216
P RSP003 Respiratory Failure 74 0.638
217
CYT005 Cytomegalovirus Retinitis 50 0.638
218
ADN018 Adenoma 58 0.638
219
CHR066 Chronic Fatigue Syndrome 60 0.638
220
ATM052 Autoimmune Disease 1 36 0.634
221
MCL027 Macular Dystrophy, Dominant Cystoid 51 0.634
222
P TRN020 Turner Syndrome 67 0.634
223
P VSC011 Vasculitis 61 0.631
224
INT054 Intraocular Lymphoma 48 0.623
225
PTT063 Pattern Dystrophy 36 0.623
226
c LBR012 Leber Congenital Amaurosis 2 53 0.616
227
P TXP001 Toxoplasmosis 60 0.616
228
P PRS040 Prostate Cancer 95 0.608
229
ACQ007 Acquired Immunodeficiency Syndrome 58 0.601
230
PNM010 Pneumothorax, Primary Spontaneous 58 0.585
231
PTH003 Pathologic Nystagmus 52 0.585
232
P HMN010 Hemangioma 61 0.577
233
IRD001 Iridocyclitis 54 0.577
234
P PRD006 Prader-Willi Syndrome 60 0.577
235
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.569
236
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.569
237
MCL079 Macular Telangiectasia Type 2 27 0.569
238
PNC059 Punctate Inner Choroidopathy 32 0.569
239
P OVR082 Overgrowth Syndrome 42 0.569
240
P NNP021 Nanophthalmos 40 0.561
241
P PNV001 Panuveitis 48 0.561
242
PRS012 Pars Planitis 47 0.553
243
HST011 Histoplasmosis 54 0.553
244
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.553
245
MLT035 Multifocal Choroiditis 30 0.553
246
P RTN209 Retinoschisis 1, X-Linked, Juvenile 59 0.544
247
P PRK057 Parkinson Disease, Late-Onset 79 0.544
248
P MYC084 Mycobacterium Tuberculosis 1 68 0.544
249
VTR011 Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 16 0.544
250
HRD016 Hereditary Retinal Dystrophy 34 0.544
251
ACT201 Acute Posterior Multifocal Placoid Pigment Epitheliopathy 21 0.544
252
PST092 Posttransplant Acute Limbic Encephalitis 29 0.544
253
ANX010 Anxiety 70 0.536
254
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.527
255
P CNT005 Central Nervous System Lymphoma 51 0.527
256
P ENC018 Encephalopathy 62 0.527
257
MSC007 Muscle Hypertrophy 64 0.518
258
FBR047 Fibromyalgia 58 0.518
259
PLM031 Poliomyelitis 62 0.518
260
IMP005 Impotence 52 0.509
261
c MCL060 Macular Dystrophy, Vitelliform, 3 42 0.500
262
P OCL002 Oculocutaneous Albinism 59 0.500
263
P OPN001 Open-Angle Glaucoma 55 0.500
264
RTN006 Retinal Drusen 33 0.500
265
BCK006 Back Pain 43 0.500
266
P ACT105 Acute Mountain Sickness 52 0.500
267
P RBL001 Rubella 58 0.491
268
CHC001 Chickenpox 56 0.491
269
OCL025 Ocular Toxoplasmosis 39 0.491
270
NRT004 Neuritis 53 0.481
271
P OPT009 Optic Neuritis 57 0.481
272
P LPS004 Lupus Erythematosus 61 0.481
273
VTR003 Vitreous Detachment 41 0.481
274
P ALZ034 Alzheimer Disease 87 0.471
275
P SCH015 Schizophrenia 74 0.471
276
c SYS001 Systemic Lupus Erythematosus 86 0.471
277
SYM002 Sympathetic Ophthalmia 45 0.471
278
c RTN050 Retinitis Pigmentosa 20 41 0.461
279
P ALC033 Alcohol Use Disorder 67 0.461
280
P NRF002 Neurofibromatosis 60 0.461
281
P SLP006 Sleep Apnea 69 0.451
282
PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37 0.451
283
CHR466 Chronic Thromboembolic Pulmonary Hypertension 47 0.451
284
CRB037 Cerebral Palsy 67 0.441
285
P PLM037 Pulmonary Hypertension 69 0.430
286
P LYM118 Lymphoma 69 0.430
287
c HYP595 Hypertension, Essential 84 0.430
288
P TRM003 Tremor 50 0.430
289
P MNC007 Monocytic Leukemia 48 0.430
290
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.419
291
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.419
292
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.419
293
FND001 Fundus Albipunctatus 55 0.419
294
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.419
295
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.419
296
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.419
297
P MJR001 Major Depressive Disorder 68 0.419
298
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.419
299
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.419
300
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.419
301
P STR020 Strabismus 56 0.419
302
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.419
303
P ADN016 Adenocarcinoma 63 0.419
304
MNT002 Mental Depression 56 0.419
305
P HRM001 Hermansky-Pudlak Syndrome 65 0.419
306
DPR016 Depression 65 0.419
307
MCH006 Mechanical Strabismus 40 0.419
308
ART140 Arteries, Anomalies of 52 0.408
309
LPP008 Lipoprotein Quantitative Trait Locus 65 0.408
310
c TYP008 Type 1 Diabetes Mellitus 77 0.408
311
c HYP836 Hypercholesterolemia, Familial, 1 73 0.408
312
c GLC092 Glaucoma, Primary Open Angle 61 0.408
313
CHR077 Chorioretinal Scar 28 0.408
314
P SYP003 Syphilis 59 0.408
315
c PRC016 Pre-Eclampsia 64 0.397
316
IMM167 Immune Deficiency Disease 77 0.397
317
OCC002 Occult Macular Dystrophy 46 0.397
318
P CRN300 Coronary Heart Disease 1 73 0.397
319
c MCP049 Mucopolysaccharidosis, Type Vii 62 0.385
320
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.385
321
BSL037 Basal Laminar Drusen 41 0.385
322
CLT003 Colitis 63 0.385
323
P ACN011 Acne 55 0.385
324
P ECL001 Eclampsia 52 0.385
325
BRD025 Birdshot Chorioretinopathy 48 0.373
326
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 60 0.373
327
MLD018 Mild Cognitive Impairment 48 0.373
328
IRN002 Iron Metabolism Disease 56 0.373
329
PLR007 Pleural Empyema 51 0.373
330
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 0.373
331
c LKM005 Leukemia, T-Cell, Chronic 33 0.373
332
CHD001 Chediak-Higashi Syndrome 67 0.360
333
HMN044 Human Immunodeficiency Virus Type 1 76 0.360
334
P HRT032 Heart Disease 84 0.360
335
P LCT001 Lactic Acidosis 50 0.360
336
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.360
337
P THL005 Thalassemia 56 0.360
338
PLM033 Pulmonary Embolism 58 0.360
339
ACT120 Acute Zonal Occult Outer Retinopathy 28 0.360
340
P ADL017 Adult T-Cell Leukemia 54 0.347
341
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.347
342
P ATT013 Attention Deficit-Hyperactivity Disorder 66 0.347
343
KRT019 Keratitis, Hereditary 66 0.347
344
P TTR001 Tetralogy of Fallot 69 0.347
345
NVS001 Neovascular Glaucoma 52 0.347
346
PLS011 Plasmacytoma 56 0.347
347
MNK001 Menkes Disease 64 0.347
348
KRN002 Kearns-Sayre Syndrome 63 0.347
349
SPS057 Spasticity 43 0.347
350
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.333
351
HMC014 Homocysteinemia 52 0.333
352
PRT251 Proteinuria, Chronic Benign 58 0.333
353
OCC016 Occupational Asthma 33 0.333
354
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.333
355
P GLM040 Glioma Susceptibility 1 70 0.333
356
THR024 Thrombosis 56 0.333
357
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.333
358
DFC004 Deficiency Anemia 74 0.333
359
MLG169 Malignant Astrocytoma 57 0.333
360
P INT143 Interstitial Cystitis 59 0.333
361
PLS007 Plasmodium Falciparum Malaria 52 0.333
362
P CYS018 Cystitis 59 0.333
363
CLF001 Cleft Lip 54 0.333
364
CLF004 Cleft Lip/palate 57 0.333
365
PRM329 Premature Aging 36 0.333
366
P AST005 Asthma 76 0.319
367
ACT240 Actn3 Deficiency 25 0.319
368
ANG054 Angina Pectoris 65 0.319
369
P ACT028 Acute Closed-Angle Glaucoma 32 0.319
370
BRN026 Branch Retinal Artery Occlusion 41 0.319
371
c HPT001 Hepatitis C 61 0.319
372
HMP003 Hemopneumothorax 32 0.319
373
IRT001 Iritis 45 0.319
374
P LVR013 Liver Disease 68 0.319
375
DBT090 Diabetes and Deafness, Maternally Inherited 44 0.319
376
P CHR345 Chronic Pain 50 0.319
377
P RTN014 Retinal Artery Occlusion 47 0.319
378
OST012 Osteoarthritis 77 0.319
379
FTT001 Fatty Liver Disease 61 0.319
380
MYL080 Myalgic Encephalomyelitis/chronic Fatigue Syndrome 32 0.319
381
RTN123 Retinochoroidal Coloboma 18 0.319
382
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.304
383
TNS005 Tonsillitis 57 0.304
384
END057 Endometrial Cancer 71 0.304
385
MLR004 Malaria 78 0.304
386
c RTN142 Retinitis Pigmentosa 38 39 0.304
387
ENH001 Enhanced S-Cone Syndrome 58 0.304
388
c SVR005 Severe Pre-Eclampsia 50 0.304
389
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 0.304
390
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.304
391
PST020 Postpoliomyelitis Syndrome 43 0.304
392
PRM226 Primary Central Nervous System Lymphoma 47 0.304
393
c USH036 Usher Syndrome, Type I 60 0.289
395
JPN001 Japanese Spotted Fever 21 0.289
396
OCL051 Ocular Tuberculosis 29 0.289
397
ASY002 Asymptomatic Neurosyphilis 41 0.289
398
XRP001 Xerophthalmia 42 0.289
399
P OVR042 Ovarian Cancer 88 0.289
400
P MYC007 Myocardial Infarction 69 0.289
401
NRL016 Neural Tube Defects 81 0.289
402
c LBR018 Leber Congenital Amaurosis 8 47 0.289
403
DGR001 Digeorge Syndrome 62 0.289
404
c FML346 Familial Adenomatous Polyposis 1 65 0.289
405
P EPL164 Epilepsy 70 0.289
406
KRT001 Keratoconjunctivitis Sicca 49 0.289
407
CNG034 Congestive Heart Failure 69 0.289
408
ART010 Arteriolosclerosis 37 0.289
409
P CNJ013 Conjunctivitis 66 0.289
410
SPT005 Spotted Fever 49 0.289
411
CHL123 Chlamydia 58 0.289
412
ATN004 Autonomic Neuropathy 42 0.289
413
NRS003 Neurosyphilis 45 0.289
414
P ART022 Arthritis 70 0.289
415
SKN019 Skin Melanoma 70 0.289
416
CRP002 Croup 42 0.289
418
MYP060 Myopic Macular Degeneration 19 0.289
419
P SRC025 Sarcoidosis 1 70 0.272
420
c RTN046 Retinitis Pigmentosa 17 37 0.272
421
P SPP010 Suppressor of Tumorigenicity 3 51 0.272
422
ABT001 Abetalipoproteinemia 68 0.272
423
WST005 West Nile Virus 55 0.272
424
c MCR122 Microphthalmia, Isolated 5 39 0.272
425
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.272
426
OPT010 Optic Papillitis 38 0.272
427
CHL147 Chlamydia Pneumonia 47 0.272
428
P GRS003 Griscelli Syndrome 53 0.272
429
P DRM053 Dermatitis, Atopic 65 0.272
430
EPD052 Epidermolysis Bullosa Simplex Superficialis 17 0.272
431
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.272
432
STR039 Sturge-Weber Syndrome 60 0.272
433
CMP034 Complete Androgen Insensitivity Syndrome 55 0.272
434
LKS001 Leukostasis 40 0.272
435
ISC004 Ischemia 61 0.272
436
MMB001 Membranoproliferative Glomerulonephritis 56 0.272
437
MLG061 Malignant Choroid Melanoma 33 0.272
438
c HPT016 Hepatitis B 62 0.272
439
P SCL015 Scleritis 47 0.272
440
OCL022 Ocular Melanoma 54 0.272
441
ONC002 Onchocerciasis 50 0.272
442
VTR002 Vitreous Syneresis 31 0.272
443
HYP008 Hypertensive Retinopathy 39 0.272
444
P ADL010 Adult Respiratory Distress Syndrome 71 0.272
445
ALB024 Albinism, Ocular, Type I 37 0.272
446
DRM006 Dermatitis 62 0.272
447
P JVN042 Juvenile Retinoschisis 39 0.272
448
PRN039 Paraneoplastic Syndromes 37 0.272
449
SNL007 Senile Cataract 40 0.272
450
P MYP004 Myopathy 67 0.272
451
P HMR005 Hemorrhoid 49 0.272
452
OCL006 Ocular Hypertension 53 0.272
453
ACT235 Acute Macular Neuroretinopathy 16 0.272
454
AST006 Astigmatism 46 0.255
455
EXR010 Exercise-Induced Bronchoconstriction 34 0.255
456
FBR009 Fibrous Dysplasia 48 0.255
457
OBS002 Obsessive-Compulsive Disorder 68 0.255
458
P GLC113 Galactosemia I 65 0.255
459
INT029 Interleukin-7 Receptor Alpha Deficiency 28 0.255
461
P HYP733 Hypercalciuria, Absorptive, 2 45 0.255
462
CLF027 Cleft Palate, Isolated 64 0.255
463
c LBR009 Leber Congenital Amaurosis 14 41 0.255
464
c LBR010 Leber Congenital Amaurosis 15 39 0.255
465
c TBR025 Tuberous Sclerosis 1 84 0.255
466
P ISL078 Isolated Ectopia Lentis 58 0.255
467
P PLY019 Polyneuropathy 53 0.255
468
P MVM001 Movement Disease 61 0.255
469
P PRP019 Peripheral Nervous System Disease 57 0.255
470
RTN021 Retinal Vascular Occlusion 45 0.255
471
P NPH012 Nephrotic Syndrome 62 0.255
472
P LKM002 Leukemia 66 0.255
473
MTH009 Mouth Disease 57 0.255
474
STR067 Stroke, Ischemic 79 0.255
475
SRP002 Serpiginous Choroiditis 22 0.255
476
FRS019 Farsightedness 35 0.255
477
P HYP265 Hypotonia 42 0.255
478
SVR002 Severe Nonproliferative Diabetic Retinopathy 36 0.255
479
P HYP087 Hypotrichosis 41 0.255
480
BLT001 Bilateral Retinoblastoma 35 0.255
481
P ENC004 Encephalitis 61 0.255
482
EXP004 Exophthalmos 50 0.255
483
MLN046 Melanoma-Associated Retinopathy 24 0.255
484
LYM133 Lymphoma, Hodgkin, Classic 74 0.236
485
c MCL062 Mucolipidosis Ii Alpha/beta 69 0.236
486
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.236
487
DNN001 Danon Disease 59 0.236
488
PLT004 Platelet Glycoprotein Iv Deficiency 56 0.236
489
LYM143 Lymphoma, Non-Hodgkin, Familial 79 0.236
490
CVT001 Cavitary Optic Disc Anomalies 38 0.236
491
P DNG005 Dengue Virus 55 0.236
492
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 0.236
493
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 0.236
494
MTB004 Metabolic Acidosis 48 0.236
495
P PRS062 Persistent Hyperplastic Primary Vitreous 47 0.236
496
c WRD033 Waardenburg Syndrome, Type 2e 53 0.236
497
PHS025 Phosphatase, Acid, of Tissues 28 0.236
498
P LNG064 Lung Cancer Susceptibility 3 70 0.236
500
c PRG020 Paragangliomas 3 39 0.236
501
HYP060 Hyperinsulinism 53 0.236
502
PRP026 Peripheral Retinal Degeneration 29 0.236
503
CMP009 Complement Deficiency 40 0.236
504
NTR005 Nutritional Deficiency Disease 60 0.236
505
HYP080 Hypogonadism 49 0.236
506
CHR073 Choreatic Disease 53 0.236
507
DNG003 Dengue Disease 65 0.236
508
HND002 Hand, Foot and Mouth Disease 50 0.236
509
c MLG069 Malignant Hypertension 46 0.236
510
c ACT071 Acute Kidney Failure 60 0.236
511
RTN002 Retinal Perforation 37 0.236
512
FCL014 Focal Epilepsy 53 0.236
513
PPL018 Papillary Adenocarcinoma 44 0.236
514
c RTN041 Retinitis Pigmentosa 11 43 0.236
515
CNC002 Cinca Syndrome 65 0.236
516
PTT037 Pituitary Tumors 44 0.236
517
P TRC031 Trichorhinophalangeal Syndrome 37 0.236
518
EXP002 Exposure Keratitis 26 0.236
519
CRH001 Crohn's Disease 80 0.236
520
P KDN018 Kidney Disease 72 0.236
521
WST010 West Nile Virus Infection 32 0.236
522
MTC004 Mitochondrial Encephalomyopathy 43 0.236
523
P WRD001 Waardenburg's Syndrome 60 0.236
524
P PRD008 Periodontitis 64 0.236
525
SBC016 Subacute Delirium 42 0.236
526
P ALP008 Alopecia 53 0.236
527
HYP056 Hypoglycemia 65 0.236
528
NRF007 Neurofibroma 64 0.236
529
CNG092 Congenital Extrahepatic Portosystemic Shunt 24 0.236
530
c HMN021 Human T-Cell Leukemia Virus Type 1 46 0.236
531
P HRD217 Hereditary Optic Neuropathy 36 0.236
532
LMN011 Laminopathy 35 0.236
533
FND005 Fundus Pulverulentus 9 0.236
534
c OGC001 Oguchi Disease 1 39 0.215
535
c STR054 Stargardt Disease 4 27 0.215
536
KWS002 Kawasaki Disease 65 0.215
537
c RTN186 Retinitis Pigmentosa 75 32 0.215
538
c PTN013 Patent Ductus Arteriosus 2 21 0.215
539
NRN005 Neuronal Ceroid-Lipofuscinoses 61 0.215
540
DFF005 Diffuse Large B-Cell Lymphoma 55 0.215
541
OST003 Osteonecrosis 61 0.215
542
BNR002 Bone Resorption Disease 47 0.215
543
CVD001 Covid-19 58 0.215
544
P END033 Endocarditis 58 0.215
545
ALC007 Alcohol Dependence 65 0.215
546
APN008 Apnea, Obstructive Sleep 66 0.215
547
P RHM011 Rheumatoid Arthritis 81 0.215
548
INF034 Infective Endocarditis 53 0.215
549
P ATR011 Atrial Fibrillation 66 0.215
550
PRP080 Peripheral Artery Disease 54 0.215
551
P ANT088 Anterior Segment Dysgenesis 53 0.215
552
CRT072 Creutzfeldt-Jakob Disease 67 0.215
553
c BRD020 Bardet-Biedl Syndrome 8 49 0.215
554
PTN004 Patent Ductus Venosus 31 0.215
555
HYP332 Hypotrichosis, Congenital, with Juvenile Macular Dystrophy 41 0.215
556
HRW001 Hair Whorl 35 0.215
557
NPH003 Nephrocalcinosis 49 0.215
558
c HMC009 Hemochromatosis Type 2 58 0.215
559
DRY001 Dry Eye Syndrome 49 0.215
560
OPT001 Optic Disk Drusen 34 0.215
561
P PNC025 Panic Disorder 52 0.215
562
HMN009 Hemangioblastoma 53 0.215
563
RTN013 Retinal Hemangioblastoma 30 0.215
564
P MCR010 Microcephaly 59 0.215
565
CNT028 Central Retinal Artery Occlusion 42 0.215
566
RTR008 Root Resorption 44 0.215
567
SLR002 Solar Retinopathy 27 0.215
568
NRG002 Neurogenic Bladder 55 0.215
569
IRN001 Iron Deficiency Anemia 58 0.215
570
P PLM036 Pulmonary Fibrosis 65 0.215
571
NWC001 Newcastle Disease 48 0.215
572
GNG013 Gingivitis 59 0.215
573
P CRV031 Cervical Adenocarcinoma 48 0.215
574
c CNR005 Cone-Rod Dystrophy 3 41 0.215
575
ANR007 Anorexia Nervosa 59 0.215
576
EBL001 Ebola Hemorrhagic Fever 56 0.215
577
ATN005 Autonomic Dysfunction 45 0.215
578
WBR001 Weber Syndrome 38 0.215
579
BRN071 Brain Injury 50 0.215
580
DYS073 Dysphagia 53 0.215
581
CLR033 Color Vision Deficiency 41 0.215
582
ORN004 Ornithinemia 13 0.215
583
P OGC005 Oguchi Disease 44 0.215
584
P DBT005 Diabetes Insipidus 54 0.215
586
RRG078 Rare Genetic Deafness 38 0.215
587
BTT011 Butterfly-Shaped Pigment Dystrophy 30 0.215
588
MLT134 Multiple Pterygium Syndrome, Lethal Type 56 0.192
589
c MCR252 Microphthalmia, Syndromic 5 38 0.192
590
EPD015 Epidemic Typhus 44 0.192
591
P SNS001 Sensorineural Hearing Loss 59 0.192
592
P PRK039 Parkinsonism 55 0.192
593
MDD018 Middle East Respiratory Syndrome 44 0.192
594
P MMP001 Mumps 56 0.192
595
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 0.192
596
P FRD001 Friedreich Ataxia 62 0.192
597
INT303 Intracranial Hypertension, Idiopathic 56 0.192
598
VLV047 Volvulus of Midgut 55 0.192
599
VNH007 Von Hippel-Lindau Syndrome 73 0.192
600
c ATS007 Autism Spectrum Disorder 72 0.192
601
LMB062 Limb Ischemia 55 0.192
602
ADR040 Adrenal Gland Pheochromocytoma 45 0.192
603
LTX001 Latex Allergy 41 0.192
605
PPL048 Papillorenal Syndrome 58 0.192
606
P PHC003 Pheochromocytoma 70 0.192
607
c BTT014 Beta-Thalassemia 72 0.192
608
c CNR026 Cone-Rod Dystrophy 18 30 0.192
609
P CRN026 Corneal Edema 42 0.192
610
RBS001 Rabies 58 0.192
611
P HPT023 Hepatocellular Carcinoma 95 0.192
612
c WLM013 Wilms Tumor 1 65 0.192
613
P ATS364 Autism 72 0.192
614
P CNG010 Congenital Stationary Night Blindness 56 0.192
615
RHM028 Rheumatic Heart Disease 56 0.192
616
PRP027 Peripheral Vascular Disease 71 0.192
617
P CTS001 Cutis Laxa 64 0.192
618
P CPL006 Capillary Hemangioma 53 0.192
619
c INH020 Inherited Metabolic Disorder 47 0.192
620
P PRL003 Proliferative Glomerulonephritis 43 0.192
621
SNS003 Sensory Peripheral Neuropathy 51 0.192
622
P OST001 Osteopetrosis 70 0.192
623
P CRD246 Cardiovascular System Disease 55 0.192
624
SCR008 Scrub Typhus 57 0.192
625
P CLR019 Color Blindness 47 0.192
626
P RNL007 Renal Tubular Acidosis 52 0.192
627
PTL002 Patellofemoral Pain Syndrome 33 0.192
628
JPN002 Japanese Encephalitis 61 0.192
629
DBT002 Diabetic Autonomic Neuropathy 40 0.192
630
ABS022 Absolute Glaucoma 33 0.192
631
TTN003 Tetanus 64 0.192
632
P ECT006 Ectodermal Dysplasia 62 0.192
633
INC021 Incontinentia Pigmenti 63 0.192
634
TTH032 Tooth Size 35 0.192
635
c LBR015 Leber Congenital Amaurosis 5 42 0.192
636
AML001 Amelanotic Melanoma 37 0.192
637
GLM045 Glioma 62 0.192
638
P SZR006 Seizure Disorder 69 0.192
639
P C3G002 C3 Glomerulopathy 46 0.192
640
INT082 Intraocular Retinoblastoma 29 0.192
641
P HDC001 Headache 56 0.192
642
TRM010 Traumatic Brain Injury 50 0.192
643
ANT024 Anthrax Disease 58 0.192
644
P AMY004 Amyloidosis 69 0.192
645
P LBR033 Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 22 0.192
646
P MSC005 Muscular Dystrophy 66 0.192
647
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 0.192
648
LGH004 Light Chain Deposition Disease 40 0.192
649
P DST107 Distal Renal Tubular Acidosis 48 0.192
650
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.192
651
IDP048 Idiopathic Posterior Uveitis 10 0.192
652
EXR008 Exercise-Induced Malignant Hyperthermia 20 0.192
653
CLB026 Colobomatous Microphthalmia 46 0.192
654
c NRF023 Neurofibromatosis, Type Ii 70 0.167
655
P JBR020 Joubert Syndrome 1 74 0.167
656
HLC007 Helicobacter Pylori Infection 67 0.167
657
MYC006 Mycosis Fungoides 65 0.167
658
TKY002 Takayasu Arteritis 61 0.167
659
c JVN061 Juvenile Arthritis 56 0.167
660
SSS001 Sessile Serrated Polyposis Cancer Syndrome 21 0.167
661
MYP120 Myopathy, Distal, with Rimmed Vacuoles 33 0.167
663
c PCH010 Pachyonychia Congenita 3 43 0.167
664
GLC003 Glucose Intolerance 53 0.167
665
P WLF004 Wolfram Syndrome 61 0.167
666
RCK004 Rickets 65 0.167
667
BRK010 Burkitt Lymphoma 66 0.167
668
DNN002 Donnai-Barrow Syndrome 54 0.167
669
c WLF013 Wolfram Syndrome 1 60 0.167
670
c GLC097 Glaucoma 3, Primary Congenital, a 57 0.167
671
P CRN276 Corneal Endothelial Dystrophy 52 0.167
672
ALX002 Alexithymia 37 0.167
673
ZKF001 Zika Fever 51 0.167
674
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 0.167
675
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 52 0.167
676
c FTL070 Fetal Akinesia Deformation Sequence 2 36 0.167
677
HYP859 Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, and Eye Abnormalities 27 0.167
678
c OCL081 Oculocutaneous Albinism, Type Viii 19 0.167
679
c RTN055 Retinitis Pigmentosa 26 39 0.167
680
PRP099 Peripheral Cone Dystrophy 15 0.167
681
P APL001 Aplastic Anemia 73 0.167
682
c USH041 Usher Syndrome, Type if 47 0.167
683
CMP042 Complement Factor H Deficiency 44 0.167
685
HTR005 Heterochromia Iridis 22 0.167
686
P HNT016 Huntington Disease 73 0.167
687
MCL069 Macular Dystrophy, Retinal, 1, North Carolina Type 38 0.167
688
c RTN152 Retinitis Pigmentosa 66 34 0.167
689
c BRD014 Bardet-Biedl Syndrome 2 53 0.167
690
c MCR210 Microphthalmia, Isolated, with Coloboma 7 19 0.167
691
c RTN136 Retinitis Pigmentosa 44 33 0.167
692
MST021 Meester-Loeys Syndrome 38 0.167
693
ACT011 Acute Contagious Conjunctivitis 42 0.167
694
LTN029 Latent Autoimmune Diabetes in Adults 38 0.167
695
BTT017 Beta-Thalassemia Major 53 0.167
696
c ERL056 Early-Onset Parkinson's Disease 39 0.167
697
c PRM032 Primary Congenital Glaucoma 40 0.167
698
P MYS079 Miyoshi Muscular Dystrophy 52 0.167
699
P ACH003 Achromatopsia 62 0.167
700
P CCK001 Cockayne Syndrome 68 0.167
701
BRN024 Bronchitis 67 0.167
702
DNT012 Dental Caries 53 0.167
703
KRT008 Keratopathy 46 0.167
704
PLY010 Polyclonal Hypergammaglobulinemia 35 0.167
705
c INT064 Intermediate Uveitis 54 0.167
706
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.167
707
FST001 Foster-Kennedy Syndrome 39 0.167
708
PRS047 Prostatitis 58 0.167
709
GTR002 Goiter 52 0.167
710
RTN005 Retinal Lattice Degeneration 27 0.167
711
RTN004 Retinal Microaneurysm 32 0.167
712
SLC006 Silicosis 55 0.167
713
DBT008 Diabetic Angiopathy 47 0.167
714
BNN003 Bone Inflammation Disease 47 0.167
715
GLY031 Glycoproteinosis 49 0.167
716
c CNT035 Central Nervous System Disease 53 0.167
717
MDD011 Mood Disorder 62 0.167
718
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 0.167
719
OST159 Osteogenic Sarcoma 66 0.167
720
RTC009 Reticulum Cell Sarcoma 44 0.167
721
P PTN014 Patent Ductus Arteriosus 1 59 0.167
722
c MCR338 Microphthalmia, Isolated, with Coloboma 1 13 0.167
723
P NRC002 Narcolepsy 55 0.167
724
FSC004 Fasciitis 49 0.167
725
PLC007 Placental Abruption 47 0.167
726
HYP005 Hypokalemia 55 0.167
727
PLX002 Plexiform Neurofibroma 44 0.167
728
c JVN010 Juvenile Rheumatoid Arthritis 66 0.167
729
P HYP263 Hypersomnia 40 0.167
730
MCP033 Mucopolysaccharidoses 44 0.167
731
RTN019 Retinal Telangiectasia 28 0.167
732
RTN011 Retina Lymphoma 25 0.167
733
MSL001 Measles 61 0.167
734
XLN247 X-Linked Congenital Retinoschisis 21 0.167
735
P PRM011 Primary Ciliary Dyskinesia 69 0.167
736
PLN007 Plantar Fasciitis 35 0.167
737
GRW007 Growth Hormone Deficiency 47 0.167
738
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 8 0.167
739
VRS002 Virus-Associated Trichodysplasia Spinulosa 30 0.167
740
DVL026 Developmental Defect of the Eye 9 0.167
741
FNG016 Fungal Keratitis 39 0.167
742
THR123 Thrombotic Microangiopathy 40 0.167
743
ESP021 Esophageal Cancer 84 0.136
744
GRP007 Grouped Pigmentation of the Retina 17 0.136
745
VRC005 Varicose Veins 59 0.136
746
c RTN051 Retinitis Pigmentosa 22 23 0.136
747
CRV035 Cervical Cancer 72 0.136
748
c RTN116 Retinitis Pigmentosa 56 25 0.136
749
TBL029 Tubulin, Beta 28 0.136
750
c DFN250 Deafness, Autosomal Recessive 2 45 0.136
751
c NNP017 Nanophthalmos 1 21 0.136
752
c HR4001 Hr44 Antigen 12 0.136
753
c RTN056 Retinitis Pigmentosa 28 39 0.136
754
HMM004 Hamamy Syndrome 39 0.136
755
RBF001 Riboflavin Deficiency 49 0.136
756
MRG003 Marginal Zone B-Cell Lymphoma 52 0.136
757
P HYP730 Hypogonadotropic Hypogonadism 54 0.136
758
BCT022 Bacterial Infectious Disease 56 0.136
759
MSN002 Mesenteric Lymphadenitis 30 0.136
760
THY121 Thyroid Gland Anaplastic Carcinoma 66 0.136
761
NNL006 Non-Alcoholic Steatohepatitis 54 0.136
762
INT395 Intracranial Meningioma 48 0.136
763
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.136
764
TTZ003 Tietz Albinism-Deafness Syndrome 59 0.136
765
c ATR087 Atrial Standstill 1 74 0.136
766
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.136
767
c SPN225 Spondyloarthropathy 1 70 0.136
768
ATH013 Atherosclerosis Susceptibility 63 0.136
769
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 66 0.136
770
c PRS122 Persistent Hyperplastic Primary Vitreous, Autosomal Recessive 39 0.136
771
LRN001 Laurence-Moon Syndrome 45 0.136
772
c GLY008 Glycogen Storage Disease Ii 72 0.136
773
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 0.136
774
P EXN002 Exanthem 58 0.136
775
SPS007 Spastic Cerebral Palsy 46 0.136
776
P PTT054 Patterned Macular Dystrophy 20 0.136
777
DFF010 Diffuse Alopecia Areata 23 0.136
778
CHN065 Choanal Atresia, Posterior 48 0.136
779
PST036 Posterior Column Ataxia with Retinitis Pigmentosa 38 0.136
780
P CLR023 Colorectal Cancer 100 0.136
781
c MCL073 Macular Dystrophy, Vitelliform, 1 20 0.136
782
MCL074 Macular Dystrophy, Fenestrated Sheen Type 5 0.136
783
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68 0.136
784
PCT003 Pectus Excavatum 43 0.136
785
MLT152 Multiple Self-Healing Squamous Epithelioma 45 0.136
786
c ECT058 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 40 0.136
788
c HRM007 Hermansky-Pudlak Syndrome 4 45 0.136
789
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.136
790
c PRG019 Paragangliomas 2 30 0.136
791
c RTN067 Retinitis Pigmentosa 41 31 0.136
792
TNP004 Tn Polyagglutination Syndrome 42 0.136
793
SJG002 Sjogren-Larsson Syndrome 53 0.136
794
P SJG008 Sjogren Syndrome 61 0.136
795
SRC014 Sarcoma 64 0.136
796
PST040 Posterior Column Ataxia 23 0.136
797
HMP005 Hemiplegia 53 0.136
798
TTH002 Tooth Agenesis 61 0.136
799
c ACT073 Acute Leukemia 59 0.136
800
CRT012 Cortical Blindness 42 0.136
801
PHR002 Pharyngoconjunctival Fever 32 0.136
802
P NPH005 Nephronophthisis 59 0.136
803
CHL068 Cholestasis 61 0.136
804
GLB002 Glioblastoma 67 0.136
805
HMG005 Hemoglobinopathy 55 0.136
806
BRX001 Bruxism 51 0.136
807
PLM001 Pulmonary Tuberculosis 69 0.136
808
P PRN023 Prion Disease 60 0.136
809
SPN051 Spondylitis 51 0.136
810
URN010 Urinary Tract Obstruction 55 0.136
811
SCH012 Schizoaffective Disorder 49 0.136
812
P DYS154 Dystonia 64 0.136
813
EXT007 Extracutaneous Mastocytoma 38 0.136
814
ANH002 Anhidrosis 45 0.136
815
P LTR001 Lateral Sclerosis 58 0.136
816
HYP068 Hyperostosis 47 0.136
817
SYN007 Synovitis 54 0.136
818
ACR007 Acromegaly 70 0.136
819
P DMN002 Dementia 65 0.136
820
GNR004 Generalized Anxiety Disorder 55 0.136
821
INF009 Inflammatory Spondylopathy 30 0.136
822
PLC002 Plica Syndrome 35 0.136
823
MNC001 Monocular Esotropia 30 0.136
824
PNT003 Pinta Disease 30 0.136
825
P PLY011 Polycystic Ovary Syndrome 57 0.136
826
GST033 Gestational Diabetes 61 0.136
827
HMP001 Hemopericardium 47 0.136
828
DNT006 Dental Pulp Necrosis 43 0.136
829
P PRC012 Pericardial Effusion 50 0.136
830
TST014 Testicular Cancer 51 0.136
831
ART016 Aortic Aneurysm 69 0.136
832
P PTT006 Pituitary Adenoma 55 0.136
833
CLL003 Cellulitis 53 0.136
834
P BRS044 Breast Adenocarcinoma 58 0.136
835
MST004 Mast Cell Neoplasm 41 0.136
836
THR016 Thrombophlebitis 50 0.136
837
VCC001 Vaccinia 49 0.136
838
P ART021 Arteriosclerosis 53 0.136
839
PSY004 Psychotic Disorder 66 0.136
840
c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 43 0.136
841
c BRD015 Bardet-Biedl Syndrome 3 48 0.136
843
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 0.136
844
c DFN251 Deafness, Autosomal Dominant 11 44 0.136
845
GST019 Gastrointestinal Stromal Tumor 78 0.136
846
MNN043 Meningioma, Familial 79 0.136
847
SPN035 Spindle Cell Sarcoma 51 0.136
848
c PST008 Posterior Scleritis 28 0.136
849
SPH001 Sapho Syndrome 47 0.136
850
c PRM031 Primary Autosomal Recessive Microcephaly 55 0.136
851
P KNB001 Knobloch Syndrome 37 0.136
852
SPR033 Superficial Spreading Melanoma 25 0.136
853
DVL005 Developmental Dyspraxia 22 0.136
854
IDP043 Idiopathic Uveal Effusion Syndrome 15 0.136
855
SVR058 Severe Early-Childhood-Onset Retinal Dystrophy 26 0.136
856
c NNS007 Nonsyndromic Deafness 32 0.136
857
LNG099 Lung Disease 62 0.136
858
P MTR014 Motor Neuron Disease 65 0.136
859
P MTC133 Mitochondrial Myopathy 51 0.136
860
VRL011 Viral Infectious Disease 60 0.136
861
SCR011 Scrapie 39 0.136
862
SCR001 Secretory Meningioma 40 0.136
863
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.136
864
HYD001 Hydranencephaly 43 0.136
865
HDN002 Head Injury 44 0.136
866
TXC011 Toxocariasis 46 0.136
867
P TXC009 Toxic Maculopathy 21 0.136
868
VNZ002 Venezuelan Equine Encephalitis 46 0.136
869
EXN003 Exencephaly 30 0.136
870
IDP022 Idiopathic Spinal Cord Herniation 17 0.136
871
EST005 Esotropia 42 0.136
872
DVL001 Developmental Coordination Disorder 34 0.136
873
MTH047 Methanol Poisoning 37 0.136
874
ACR039 Acromegaloid Hypertrichosis Syndrome 23 0.136
875
DFF036 Differentiated Thyroid Carcinoma 51 0.136
876
CNG506 Congenital Amyoplasia 27 0.136
878
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 0.136
879
THY029 Thyroid Carcinoma 54 0.136
880
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 0.096
881
BLC001 Blue Cone Monochromacy 45 0.096
882
c ORF037 Orofaciodigital Syndrome I 59 0.096
883
c OPT025 Optic Atrophy 6 26 0.096
884
c ACH021 Achromatopsia 3 45 0.096
885
FND006 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 22 0.096
886
P MYS003 Myasthenia Gravis 68 0.096
887
c HYP794 Hyperoxaluria, Primary, Type I 63 0.096
888
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 65 0.096
889
P ATX030 Ataxia-Telangiectasia 80 0.096
890
HLC001 Holocarboxylase Synthetase Deficiency 47 0.096
891
c HRM005 Hermansky-Pudlak Syndrome 1 55 0.096
892
c USH037 Usher Syndrome, Type Iia 50 0.096
893
c USH038 Usher Syndrome, Type Iiia 51 0.096
894
CTS003 Coats Disease 52 0.096
895
MLG141 Malignant Atrophic Papulosis 35 0.096
896
c CNR016 Cone-Rod Dystrophy 7 37 0.096
897
MCL026 Macular Dystrophy, Retinal, 3 15 0.096
898
c CNR013 Cone-Rod Dystrophy 12 36 0.096
899
P GST053 Gastric Cancer 82 0.096
900
ALV005 Alveolar Soft Part Sarcoma 61 0.096
901
c RTN035 Retinal Cone Dystrophy 3b 32 0.096
902
PSD059 Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency 28 0.096
903
c MYP084 Myopia 20, Autosomal Dominant 12 0.096
904
c MYP070 Myopia 21, Autosomal Dominant 20 0.096
905
c HNT004 Huntington Disease-Like 2 51 0.096
906
TND004 Tendinopathy 45 0.096
907
TND005 Tendinitis 54 0.096
908
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 47 0.096
909
DSS032 Disease by Infectious Agent 55 0.096
910
LWG006 Low Grade Glioma 41 0.096
911
HYP084 Hypopyon 38 0.096
912
P CRB045 Cerebellar Hypoplasia 40 0.096
913
P PLY014 Polycystic Kidney Disease 71 0.096
914
URL001 Urolithiasis 45 0.096
915
CRY014 Cryptococcal Meningitis 48 0.096
916
CHL152 Childhood Acute Lymphocytic Leukemia 50 0.096
917
XLN245 X-Linked Immunodeficiency 74 13 0.096
918
c MGR028 Migraine with or Without Aura 1 64 0.096
919
c NGH010 Night Blindness, Congenital Stationary, Autosomal Dominant 2 45 0.096
920
OTT002 Otitis Media 71 0.096
921
IMM154 Immunoglobulin a Deficiency 1 45 0.096
922
c RTN172 Retinitis Pigmentosa 1 44 0.096
923
P MCK013 Meckel Syndrome, Type 1 64 0.096
924
IMM003 Immunoglobulin Alpha Deficiency 44 0.096
925
FML037 Female Breast Cancer 51 0.096
926
P LYM033 Lymphoproliferative Syndrome 59 0.096
927
HYP017 Hypophosphatemia 49 0.096
928
LYM012 Lymphoplasmacytic Lymphoma 50 0.096
929
OPH001 Ophthalmomyiasis 32 0.096
930
MYL020 Myelomeningocele 51 0.096
931
P FLL037 Follicular Lymphoma 73 0.096
932
c RNG029 Ring Chromosome 14 Syndrome 31 0.096
933
c LBR019 Leber Congenital Amaurosis 9 45 0.096
934
c MYC058 Myocardial Infarction 2 24 0.096
935
c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 27 0.096
936
c RTN048 Retinitis Pigmentosa 19 39 0.096
937
NWF001 Newfoundland Rod-Cone Dystrophy 35 0.096
938
c RTN054 Retinitis Pigmentosa 25 43 0.096
939
ALL003 Allergic Rhinitis 66 0.096
940
P HYP750 Hypertriglyceridemia, Familial 62 0.096
941
c SPN101 Spinocerebellar Ataxia 29 58 0.096
944
P OCL013 Oculodentodigital Dysplasia 67 0.096
945
PGM007 Pigmented Paravenous Chorioretinal Atrophy 42 0.096
946
TRN029 Transient Bullous Dermolysis of the Newborn 38 0.096
947
c SCL052 Scleroderma, Familial Progressive 60 0.096
948
c LBR016 Leber Congenital Amaurosis 6 43 0.096
949
P MMB011 Membranous Nephropathy 50 0.096