Search results for Valine

1876 hits were found for Valine

# Family MCID Name MIFTS Score
1
3HY010 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency 33 22.400
2
VLN001 Valinemia 19 17.821
3
3HY001 3-Hydroxyisobutyric Aciduria 26 11.176
4
P MPL001 Maple Syrup Urine Disease 69 6.323
5
CRT072 Creutzfeldt-Jakob Disease 67 3.521
6
HLX001 Helix Syndrome 47 3.319
7
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36 2.735
8
P PRN023 Prion Disease 60 2.723
9
P ENC018 Encephalopathy 62 2.592
10
HPT004 Hepatic Coma 43 2.585
11
LVR012 Liver Cirrhosis 62 2.341
12
HPT019 Hepatic Encephalopathy 59 2.331
13
GLM045 Glioma 62 2.277
14
GLL048 Glial Tumor 52 2.277
15
PRP001 Propionic Acidemia 65 2.264
16
P AMY004 Amyloidosis 69 2.264
17
RPD005 Rapidly Involuting Congenital Hemangioma 48 2.211
18
P PLY019 Polyneuropathy 53 2.192
19
HYP866 Hypervalinemia and Hyperleucine-Isoleucinemia 25 2.115
20
PHN003 Phenylketonuria 76 2.030
21
P MTH008 Methylmalonic Acidemia 52 2.001
22
MTC108 Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency 32 1.966
23
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.894
24
P LVR013 Liver Disease 68 1.869
25
HMN044 Human Immunodeficiency Virus Type 1 76 1.723
26
P CLR023 Colorectal Cancer 100 1.695
27
PPL052 Papillomatosis, Confluent and Reticulated 34 1.628
28
FTT001 Fatty Liver Disease 61 1.622
29
P ANT006 Antiphospholipid Syndrome 55 1.597
30
c TYP009 Type 2 Diabetes Mellitus 92 1.555
31
P DBT005 Diabetes Insipidus 54 1.545
32
SCR011 Scrapie 39 1.532
33
P OVR082 Overgrowth Syndrome 42 1.518
34
HND015 Hand Skill, Relative 29 1.472
35
OCL069 Ocular Motor Apraxia 57 1.463
36
HRW001 Hair Whorl 35 1.456
37
c HYP836 Hypercholesterolemia, Familial, 1 73 1.439
38
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 1.433
39
BRT054 Brittle Bone Disorder 74 1.430
40
PRS131 Prostate Cancer/brain Cancer Susceptibility 23 1.418
41
LGH007 Leigh Syndrome 70 1.412
42
P GLM040 Glioma Susceptibility 1 70 1.395
43
P HMP007 Hemophilia 52 1.382
44
P PLY018 Polycythemia 56 1.356
45
P LNG032 Lung Cancer 98 1.346
46
HYP060 Hyperinsulinism 53 1.337
48
HYP240 Hyperleucine-Isoleucinemia 19 1.328
49
P ATT013 Attention Deficit-Hyperactivity Disorder 66 1.323
50
AGN016 Aging 54 1.316
51
HMG005 Hemoglobinopathy 55 1.315
52
HMR039 Hemorrhage, Intracerebral 57 1.276
53
HGH043 High Grade Glioma 46 1.276
54
HYP056 Hypoglycemia 65 1.271
55
P ADN016 Adenocarcinoma 63 1.270
56
ALL029 Allergic Disease 61 1.270
57
P HML002 Hemolytic Anemia 62 1.264
58
48X005 48,xyyy 39 1.258
59
ISL099 Isolated Methylmalonic Acidemia 35 1.238
60
P FTL002 Fatal Familial Insomnia 50 1.231
61
HYP066 Hyperglycemia 60 1.231
62
P MYC033 Myoclonus 46 1.231
63
SCK003 Sickle Cell Anemia 74 1.224
64
P NRP001 Neuropathy 59 1.224
65
c HMP004 Hemophilia B 68 1.220
66
MTH013 Methylmalonate Semialdehyde Dehydrogenase Deficiency 31 1.219
67
P BLD124 Bleeding Disorder, Platelet-Type, 11 68 1.194
68
GLS018 Glass Syndrome 60 1.194
69
MXD026 Mixed Glioma 45 1.194
70
P ALZ034 Alzheimer Disease 87 1.189
71
VTM002 Vitamin B12 Deficiency 48 1.185
72
c INH020 Inherited Metabolic Disorder 47 1.172
73
P BRS044 Breast Adenocarcinoma 58 1.162
74
c AMY091 Amyotrophic Lateral Sclerosis 1 88 1.157
75
P LTR001 Lateral Sclerosis 58 1.157
76
P SCK005 Sickle Cell Disease 56 1.152
77
TRM010 Traumatic Brain Injury 50 1.139
78
2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 38 1.134
79
P MYC084 Mycobacterium Tuberculosis 1 68 1.130
80
PRT038 Protein-Energy Malnutrition 53 1.130
81
P VNW001 Von Willebrand's Disease 64 1.112
82
GRS011 Gerstmann-Straussler Disease 55 1.103
83
c HNT010 Huntington Disease-Like 1 55 1.103
84
c PRG042 Progressive Familial Heart Block, Type Ia 65 1.096
85
c INH032 Inherited Human Prion Disease 23 1.093
86
NRR001 Neuroretinitis 42 1.073
87
c DLT002 Dilated Cardiomyopathy 79 1.073
88
RTN023 Retinitis 45 1.073
89
P DBT009 Diabetes Mellitus 67 1.071
90
VCC001 Vaccinia 49 1.063
91
P EHL001 Ehlers-Danlos Syndrome 57 1.055
92
SVR004 Severe Combined Immunodeficiency 71 1.041
93
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 51 1.034
95
EHL052 Ehlers-Danlos Syndrome, Vascular Type 63 1.028
96
GLY010 Glycine Encephalopathy 57 1.017
97
IMM167 Immune Deficiency Disease 77 1.005
98
CHL014 Cholera 62 1.005
99
OST159 Osteogenic Sarcoma 66 0.991
100
SPN186 Spinal Cord Injury 61 0.991
101
GRN017 Granulocytopenia 42 0.991
102
ATS010 Autosomal Recessive Disease 42 0.991
103
KRT019 Keratitis, Hereditary 66 0.991
104
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.971
105
PRT251 Proteinuria, Chronic Benign 58 0.969
106
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.962
107
P RTN008 Retinitis Pigmentosa 79 0.962
108
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.957
109
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.957
110
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.957
111
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.957
112
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.957
113
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.957
114
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.957
115
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.957
116
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.957
117
47X002 47,xyy 48 0.953
118
c OST080 Osteogenesis Imperfecta, Type Ii 55 0.946
119
NWC001 Newcastle Disease 48 0.946
120
c HPT016 Hepatitis B 62 0.945
121
AMN007 Aminoacylase 1 Deficiency 34 0.944
122
P RHM011 Rheumatoid Arthritis 81 0.937
123
P BPL003 Bipolar Disorder 56 0.937
124
GNT189 Genetic Prion Disease 19 0.929
125
c ERY064 Erythrocytosis, Familial, 6 30 0.928
126
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 36 0.921
127
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 45 0.921
128
c MJR024 Major Affective Disorder 9 40 0.920
129
c MJR022 Major Affective Disorder 8 37 0.920
130
MTH040 Methylmalonyl-Coa Epimerase Deficiency 27 0.918
131
c OST122 Osteogenesis Imperfecta, Type Iii 57 0.909
132
c HPT073 Hepatitis C Virus 71 0.903
133
P DMN002 Dementia 65 0.903
134
P NPH012 Nephrotic Syndrome 62 0.903
135
GST033 Gestational Diabetes 61 0.903
136
P THL005 Thalassemia 56 0.894
137
P ART022 Arthritis 70 0.890
138
c FML021 Familial Hypercholesterolemia 71 0.887
139
P PRK057 Parkinson Disease, Late-Onset 79 0.885
140
P MLN008 Melanoma 75 0.882
141
HMN047 Human Cytomegalovirus Infection 59 0.875
142
P EXN002 Exanthem 58 0.875
143
P LCT001 Lactic Acidosis 50 0.875
144
DPR016 Depression 65 0.865
145
P MSC003 Muscular Atrophy 52 0.865
146
HMZ003 Homozygous Familial Hypercholesterolemia 60 0.861
147
P PNC035 Pancreatic Cancer 86 0.856
148
P SCH015 Schizophrenia 74 0.855
149
c TYP008 Type 1 Diabetes Mellitus 77 0.855
150
c BTT014 Beta-Thalassemia 72 0.855
151
P PRP019 Peripheral Nervous System Disease 57 0.855
152
c HPT001 Hepatitis C 61 0.845
153
MNT002 Mental Depression 56 0.845
154
P INF038 Influenza 68 0.845
155
BCT022 Bacterial Infectious Disease 56 0.834
156
P MJR001 Major Depressive Disorder 68 0.834
157
c MCR130 Microvascular Complications of Diabetes 6 41 0.834
158
P NRB001 Neuroblastoma 66 0.834
159
c MCR133 Microvascular Complications of Diabetes 4 41 0.823
160
P TMR010 Tumor Predisposition Syndrome 69 0.823
161
THY111 Thyroid Carcinoma, Familial Medullary 67 0.823
162
c MCR113 Microvascular Complications of Diabetes 3 52 0.823
163
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.823
164
c MCR120 Microvascular Complications of Diabetes 7 47 0.823
165
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 0.823
166
CLT003 Colitis 63 0.823
167
P MCR010 Microcephaly 59 0.823
168
P MYP004 Myopathy 67 0.823
169
INH023 Inherited Cancer-Predisposing Syndrome 53 0.823
170
ORG002 Organic Acidemia 43 0.811
171
GLB002 Glioblastoma 67 0.811
172
BRN071 Brain Injury 50 0.811
173
MPL011 Maple Syrup Urine Disease, Mild Variant 17 0.802
174
P BLD134 Bladder Cancer 79 0.800
175
MYL031 Myeloproliferative Neoplasm 66 0.800
176
P CNG001 Congenital Myasthenic Syndrome 68 0.799
177
CRC021 Carcinosarcoma 62 0.799
178
LYM133 Lymphoma, Hodgkin, Classic 74 0.789
179
ATH013 Atherosclerosis Susceptibility 63 0.789
180
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 0.789
181
P FLL037 Follicular Lymphoma 73 0.789
182
P HPT021 Hepatitis 68 0.789
183
P SHR001 Short Bowel Syndrome 53 0.786
184
ALC007 Alcohol Dependence 65 0.786
185
c ACT027 Acute Pancreatitis 60 0.786
186
MTH009 Mouth Disease 57 0.786
187
ANX004 Anoxia 40 0.786
188
CRC034 Carcinoma Showing Thymus-Like Differentiation 22 0.786
189
LGH012 Leigh Syndrome with Leukodystrophy 39 0.786
190
PLY001 Polycythemia Vera 69 0.779
191
c PSD048 Pseudo-Von Willebrand Disease 39 0.773
192
P CRN025 Corneal Dystrophy 49 0.773
193
ACR005 Acrodermatitis 38 0.773
194
DMY004 Demyelinating Disease 50 0.773
195
ATN005 Autonomic Dysfunction 45 0.773
196
P ESS003 Essential Thrombocythemia 68 0.767
197
P BCL017 B-Cell Lymphoma 57 0.767
198
P FTL001 Fetal Alcohol Syndrome 55 0.759
199
RTN017 Retinal Detachment 60 0.759
200
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.759
201
c VRL010 Viral Hepatitis 52 0.759
202
AKN002 Akinetic Mutism 36 0.759
203
TRD006 Tardive Dyskinesia 53 0.759
204
MTS001 Mutism 44 0.759
206
BTT017 Beta-Thalassemia Major 53 0.744
207
P HRT032 Heart Disease 84 0.744
208
P CRB088 Cerebral Atrophy 33 0.744
209
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 0.744
210
P PRS040 Prostate Cancer 95 0.744
211
P BRS047 Breast Cancer 97 0.744
212
LYM143 Lymphoma, Non-Hodgkin, Familial 79 0.744
213
c HYP595 Hypertension, Essential 84 0.744
214
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.731
215
SRC014 Sarcoma 64 0.731
216
c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 28 0.728
217
CMB007 Combined Immunodeficiency 56 0.728
218
ADR040 Adrenal Gland Pheochromocytoma 45 0.728
219
P PHC003 Pheochromocytoma 70 0.728
220
P GRV001 Graves' Disease 54 0.728
221
c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 44 0.728
222
P RTN016 Retinal Degeneration 52 0.728
223
P LYM118 Lymphoma 69 0.718
224
THR004 Thrombocytosis 52 0.718
225
AND020 Androgen Insensitivity, Partial 54 0.710
226
SLP001 Sleeping Sickness 56 0.710
227
TRY001 Trypanosomiasis 50 0.710
228
PRM236 Primary Biliary Cholangitis 62 0.710
229
P NSP012 Nasopharyngeal Carcinoma 60 0.710
230
WLD005 Wild Type Attr Amyloidosis 29 0.710
231
NCL011 Nuclear Gene-Encoded Leigh Syndrome Spectrum 21 0.710
233
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.704
234
NTR005 Nutritional Deficiency Disease 60 0.704
235
URM002 Uremia 47 0.692
236
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.691
237
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.691
238
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.691
239
c PCH010 Pachyonychia Congenita 3 43 0.691
240
CLC008 Colchicine Resistance 33 0.691
241
P KLZ004 Kala-Azar 1 41 0.691
242
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 54 0.691
243
ARM004 Aromatase Excess Syndrome 51 0.691
244
PLS007 Plasmodium Falciparum Malaria 52 0.691
245
SKN016 Skin Disease 62 0.691
246
LSH001 Leishmaniasis 63 0.691
247
c ACT075 Acute Myocardial Infarction 55 0.691
248
THY122 Thyroid Gland Cancer 59 0.689
249
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.689
250
SPN035 Spindle Cell Sarcoma 51 0.689
251
SKN019 Skin Melanoma 70 0.689
252
P ANP001 Anaplastic Large Cell Lymphoma 61 0.672
253
c HPT003 Hepatitis a 63 0.672
254
ACQ007 Acquired Immunodeficiency Syndrome 58 0.672
255
P LKM002 Leukemia 66 0.672
256
c MCP052 Mucopolysaccharidosis, Type Vi 67 0.669
257
ACN002 Acanthosis Nigricans 56 0.669
258
SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 47 0.669
259
EPD002 Epidermolytic Hyperkeratosis 55 0.669
260
P ALC033 Alcohol Use Disorder 67 0.669
261
GYN001 Gynecomastia 48 0.669
262
P TBR001 Tuberous Sclerosis 69 0.669
263
P ALP004 Alport Syndrome 70 0.669
264
P HYP035 Hypophosphatasia 61 0.669
265
INF021 Infant Gynecomastia 30 0.669
266
LYS002 Lysosomal Storage Disease 51 0.669
267
ADN001 Adenosine Deaminase Deficiency 59 0.669
268
CL1007 Col1a1/2 Osteogenesis Imperfecta 25 0.669
269
P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 39 0.669
270
DWR001 Dwarfism 45 0.669
271
ACY011 Acyl-Coa Dehydrogenase Deficiency 31 0.669
272
P VTR007 Vitreoretinopathy 45 0.669
273
CYT002 Cytokine Deficiency 43 0.655
274
P FRD001 Friedreich Ataxia 62 0.643
275
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 0.643
276
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 52 0.643
277
P FML068 Familial Hypocalciuric Hypercalcemia 54 0.643
278
c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 37 0.643
279
c OST121 Osteogenesis Imperfecta, Type Iv 48 0.643
280
P EXD001 Exudative Vitreoretinopathy 55 0.643
281
ALT002 Aleutian Mink Disease 27 0.643
282
P HYP040 Hypospadias 51 0.643
283
HND002 Hand, Foot and Mouth Disease 50 0.643
284
P OLG002 Oligodendroglioma 66 0.643
285
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 0.643
286
CRT033 Corticobasal Degeneration 48 0.643
287
PRX022 Paroxysmal Choreoathetosis 23 0.643
288
DBT010 Diabetic Neuropathy 54 0.643
289
HRD223 Hereditary Melanoma 37 0.643
290
P LKM071 Leukemia, Chronic Lymphocytic 74 0.636
291
LNG099 Lung Disease 62 0.636
292
P SRC025 Sarcoidosis 1 70 0.614
293
BRK010 Burkitt Lymphoma 66 0.614
294
P SLP005 Sleep Disorder 62 0.614
295
OST012 Osteoarthritis 77 0.614
296
c HMP029 Hemophilia a 69 0.609
297
SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 54 0.609
298
c RTN058 Retinitis Pigmentosa 3 42 0.609
299
c HMC035 Hemochromatosis, Type 4 52 0.609
300
BRR014 Barrett Esophagus 66 0.609
301
P STC001 Stickler Syndrome 60 0.609
302
HYD038 Hydrops Fetalis, Nonimmune 57 0.609
303
c CLR131 Ciliary Dyskinesia, Primary, 1 62 0.609
304
SXL003 Sexual Disorder 49 0.609
305
c LYM150 Lymphatic Malformation 7 43 0.609
306
c STC013 Stickler Syndrome, Type Ii 36 0.609
307
PRN011 Pernicious Anemia 52 0.609
308
FCT001 Factor Viii Deficiency 62 0.609
309
c VNW010 Von Willebrand Disease, Type 2 48 0.609
310
HNZ004 Heinz Body Anemias 40 0.609
311
BRS099 Breast Ductal Carcinoma 61 0.609
312
P GLL022 Guillain-Barre Syndrome 59 0.609
313
c BPL002 Bipolar I Disorder 47 0.609
314
P MTC133 Mitochondrial Myopathy 51 0.609
315
CRY036 Cryptogenic Cirrhosis 36 0.609
316
P PRM011 Primary Ciliary Dyskinesia 69 0.609
317
IMM039 Immune Hydrops Fetalis 33 0.609
318
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 0.587
319
MNT001 Mantle Cell Lymphoma 65 0.587
320
P INT068 Intestinal Disease 53 0.587
321
NRN004 Neuroendocrine Tumor 55 0.587
322
SFT003 Soft Tissue Sarcoma 57 0.587
323
BNM001 Bone Marrow Cancer 45 0.587
324
HSD004 Hsd10 Mitochondrial Disease 44 0.573
325
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 48 0.573
326
c PRM012 Primary Polycythemia 58 0.553
327
P PRS038 Personality Disorder 65 0.553
328
ANG046 Angioimmunoblastic T-Cell Lymphoma 51 0.553
329
KRT002 Keratomalacia 54 0.553
330
P TRN020 Turner Syndrome 67 0.553
331
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 42 0.553
332
MTB004 Metabolic Acidosis 48 0.551
333
THY029 Thyroid Carcinoma 54 0.545
334
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.538
335
LFT001 Left Bundle Branch Hemiblock 47 0.527
336
PRT129 Prothrombin Deficiency, Congenital 48 0.527
337
c ERY065 Erythrocytosis, Familial, 7 35 0.527
338
PRT012 Prothrombin Deficiency 48 0.527
339
PYR016 Pyridoxine Deficiency 29 0.527
340
3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 31 0.491
341
CMB011 Combined Malonic and Methylmalonic Aciduria 43 0.491
342
ISV001 Isovaleric Acidemia 54 0.491
343
SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 33 0.491
344
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 50 0.491
345
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 0.491
346
c 3MT007 3-Methylglutaconic Aciduria 36 0.491
347
ALP077 Alpha-Methylacetoacetic Aciduria 52 0.491
348
P HRP006 Herpes Simplex 65 0.479
349
KR002 Kuru 45 0.472
350
ADL002 Adult Syndrome 69 0.471
351
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 0.471
352
MYC006 Mycosis Fungoides 65 0.471
353
c LKM060 Leukemia, Acute Lymphoblastic 3 49 0.471
354
PRP036 Peripheral T-Cell Lymphoma 52 0.471
355
P ANR048 Aniridia 1 66 0.471
356
c LKM056 Leukemia, Chronic Lymphocytic 2 47 0.471
357
HYP781 Hypoascorbemia 52 0.471
358
P CTN015 Cutaneous T Cell Lymphoma 48 0.471
359
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 0.471
360
OST062 Osteoarthritis with Mild Chondrodysplasia 47 0.471
361
c BLD140 Blood Group, I System 47 0.471
362
FLL041 Follicular Lymphoma 1 44 0.471
363
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 72 0.471
364
c THR090 Thrombocythemia 1 50 0.471
365
FNG017 Fungal Infectious Disease 54 0.471
366
P ESP024 Esophagitis 60 0.471
367
LNG031 Lung Benign Neoplasm 51 0.471
368
ATY005 Atypical Teratoid Rhabdoid Tumor 69 0.471
369
HMT002 Hematologic Cancer 61 0.471
370
SKN013 Skin Benign Neoplasm 49 0.471
371
RTC005 Reticulosarcoma 47 0.471
372
HDG004 Hodgkin's Granuloma 22 0.471
373
GLC008 Glucose Metabolism Disease 40 0.471
374
P MLG074 Malignant Mesenchymoma 40 0.471
375
CHL079 Children's Interstitial Lung Disease 26 0.471
376
HDG006 Hodgkin's Paragranuloma 21 0.471
377
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.471
378
ENT008 Enteropathy-Associated T-Cell Lymphoma 36 0.471
379
LYM019 Lymphosarcoma 46 0.471
380
MNC020 Monoclonal Mast Cell Activation Syndrome 20 0.471
381
LPP008 Lipoprotein Quantitative Trait Locus 65 0.442
382
HMC014 Homocysteinemia 52 0.434
383
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.434
384
ART140 Arteries, Anomalies of 52 0.427
385
DFC004 Deficiency Anemia 74 0.427
386
P DYS154 Dystonia 64 0.427
387
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.411
388
INS024 Insulin-Like Growth Factor I 77 0.402
389
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.402
390
AND002 Androgen Insensitivity Syndrome 63 0.402
391
P HYP265 Hypotonia 42 0.394
392
c BRN108 Branchiootic Syndrome 1 63 0.385
393
P PLY011 Polycystic Ovary Syndrome 57 0.385
394
MYL005 Myelofibrosis 70 0.376
395
P PRK039 Parkinsonism 55 0.376
396
CMP034 Complete Androgen Insensitivity Syndrome 55 0.376
397
LPD008 Lipid Metabolism Disorder 61 0.376
398
CYS001 Cystic Fibrosis 77 0.367
399
P INF037 Inflammatory Bowel Disease 53 0.367
400
P CTR002 Cataract 59 0.367
401
HYP141 Hyperphenylalaninemia 42 0.367
402
c ATR087 Atrial Standstill 1 74 0.358
403
c HRD039 Hereditary Amyloidosis 45 0.358
404
ANX010 Anxiety 70 0.348
405
P OVR042 Ovarian Cancer 88 0.348
406
ISC004 Ischemia 61 0.348
407
ADN018 Adenoma 58 0.348
408
P PNC044 Pancreatitis 61 0.348
409
P HYP061 Hypertrophic Cardiomyopathy 69 0.348
410
c ACT071 Acute Kidney Failure 60 0.348
411
MDD011 Mood Disorder 62 0.348
412
P KDN018 Kidney Disease 72 0.348
413
ESP021 Esophageal Cancer 84 0.339
414
ANG054 Angina Pectoris 65 0.339
415
GLC003 Glucose Intolerance 53 0.339
416
MDD018 Middle East Respiratory Syndrome 44 0.339
417
P EPL164 Epilepsy 70 0.339
418
END086 End Stage Renal Disease 54 0.339
419
P HPT023 Hepatocellular Carcinoma 95 0.328
420
MST005 Mastitis 52 0.328
421
SQM006 Squamous Cell Carcinoma 59 0.328
422
P HNT016 Huntington Disease 73 0.318
423
P OPT006 Optic Nerve Disease 57 0.318
424
P HYP086 Hypothyroidism 69 0.318
425
P GST053 Gastric Cancer 82 0.307
426
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 0.307
427
P HYP750 Hypertriglyceridemia, Familial 62 0.307
428
CHL123 Chlamydia 58 0.307
429
ULC004 Ulcerative Colitis 74 0.307
430
CNG069 Congenital Cytomegalovirus 51 0.307
431
ITR003 Iatrogenic Creutzfeldt-Jakob Disease 16 0.307
432
MLD018 Mild Cognitive Impairment 48 0.296
433
P DRR001 Diarrhea 55 0.296
434
P INF032 Infertility 60 0.296
435
P TRM003 Tremor 50 0.296
436
P SZR006 Seizure Disorder 69 0.296
437
SPL018 Splenomegaly 47 0.296
438
P PRD008 Periodontitis 64 0.296
439
ORL011 Oral Cancer 60 0.296
440
CHK001 Chikungunya 60 0.284
441
P MLT020 Multiple Sclerosis 79 0.284
442
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.284
443
ATM095 Autoimmune Disease 61 0.284
444
NRL016 Neural Tube Defects 81 0.284
445
P ATS364 Autism 72 0.284
446
P END044 Endometriosis 62 0.284
447
IRN002 Iron Metabolism Disease 56 0.284
448
P NTR004 Neutropenia 62 0.284
449
P EPD016 Epidermolysis Bullosa 53 0.284
450
P FBR017 Fibrosarcoma 55 0.284
451
HYP266 Hypoxia 56 0.284
452
CRH001 Crohn's Disease 80 0.284
453
MYT011 Myotonia 38 0.284
454
MSL001 Measles 61 0.284
455
P HMC002 Homocystinuria 52 0.284
456
c ACT134 Acute Liver Failure 57 0.284
457
FRN006 Frontotemporal Dementia 68 0.272
458
c ATS007 Autism Spectrum Disorder 72 0.272
459
ORL015 Oral Squamous Cell Carcinoma 43 0.272
460
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 0.272
461
BRN004 Brain Edema 54 0.272
462
P THR014 Thrombocytopenia 66 0.272
463
P MST009 Mastocytosis 64 0.272
464
c LKM061 Leukemia, Acute Myeloid 83 0.272
465
P HRD207 Hereditary Transthyretin Amyloidosis 25 0.272
466
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59 0.272
467
P HRD217 Hereditary Optic Neuropathy 36 0.272
468
P RTN024 Retinoblastoma 72 0.260
469
c LKM063 Leukemia, Chronic Myeloid 71 0.260
470
c PRC016 Pre-Eclampsia 64 0.260
471
PNG002 Pain Agnosia 51 0.260
472
c CNG006 Congenital Hypothyroidism 63 0.260
473
P MYC007 Myocardial Infarction 69 0.260
474
CLF027 Cleft Palate, Isolated 64 0.260
475
THR024 Thrombosis 56 0.260
476
GTR002 Goiter 52 0.260
477
P MLT074 Multiple Endocrine Neoplasia 58 0.260
478
P CRN300 Coronary Heart Disease 1 73 0.260
479
PTH003 Pathologic Nystagmus 52 0.260
480
P HYP076 Hyperthyroidism 53 0.260
481
P ALP008 Alopecia 53 0.260
482
GNT003 Genital Herpes 54 0.260
483
PRS129 Prostatic Hyperplasia, Benign 48 0.246
484
P LKM062 Leukemia, Acute Lymphoblastic 69 0.246
485
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 0.246
486
OBS002 Obsessive-Compulsive Disorder 68 0.246
487
P OST002 Osteoporosis 77 0.246
488
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 0.246
489
DBT084 Diabetes Mellitus, Ketosis-Prone 60 0.246
490
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 55 0.246
491
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 0.246
492
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.246
493
PRS021 Prostatic Adenoma 43 0.246
494
PRS045 Prostatic Hypertrophy 52 0.246
495
TXC005 Toxic Shock Syndrome 62 0.246
496
PCD001 Pica Disease 38 0.246
497
PSY004 Psychotic Disorder 66 0.246
498
THY125 Thyroid Gland Medullary Carcinoma 48 0.246
499
P MYL006 Myeloid Leukemia 60 0.246
500
STM007 Stomatitis 52 0.246
501
AVN001 Avian Influenza 61 0.246
502
ORN004 Ornithinemia 13 0.246
503
ENT007 Enteropathica 24 0.246
504
P AST005 Asthma 76 0.232
505
VRC005 Varicose Veins 59 0.232
506
CRV035 Cervical Cancer 72 0.232
507
P GRF003 Graft-Versus-Host Disease 71 0.232
508
NNL006 Non-Alcoholic Steatohepatitis 54 0.232
509
SVN002 Sveinsson Chorioretinal Atrophy 45 0.232
510
P FML011 Familial Adenomatous Polyposis 71 0.232
511
MYT030 Myotonia, Potassium-Aggravated 47 0.232
512
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.232
513
MLR004 Malaria 78 0.232
514
HYP732 Hyperalphalipoproteinemia 1 52 0.232
515
HYP052 Hyperkalemic Periodic Paralysis 62 0.232
516
c SML038 Small Cell Cancer of the Lung 69 0.232
517
CRD132 Cardiac Conduction Defect 59 0.232
518
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.232
519
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.232
520
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50 0.232
521
DGR001 Digeorge Syndrome 62 0.232
522
GT001 Gout 63 0.232
523
CHL068 Cholestasis 61 0.232
524
CNG034 Congestive Heart Failure 69 0.232
525
FBR047 Fibromyalgia 58 0.232
526
P VSC007 Vascular Disease 62 0.232
527
HRT011 Heart Septal Defect 49 0.232
528
P CRD246 Cardiovascular System Disease 55 0.232
529
KWS001 Kwashiorkor 44 0.232
530
P GST044 Gastritis 55 0.232
531
c CHR684 Chronic Kidney Disease 74 0.232
532
CLF001 Cleft Lip 54 0.232
533
AMN012 Aminoacidopathies 19 0.232
534
AMN006 Aminoaciduria 37 0.232
535
CHC001 Chickenpox 56 0.232
536
VRB002 Variably Protease-Sensitive Prionopathy 12 0.232
537
P MJR007 Major Affective Disorder 1 42 0.217
538
TRP006 Tarp Syndrome 58 0.217
539
MYL069 Myeloma, Multiple 77 0.217
540
c GRV008 Graves Disease 1 54 0.217
541
MYL009 Myelodysplastic Syndrome 67 0.217
542
CRB004 Cerebral Artery Occlusion 46 0.217
543
URL001 Urolithiasis 45 0.217
544
PLY150 Polykaryocytosis Inducer 29 0.217
545
CLR108 Colorectal Adenoma 63 0.217
546
APR001 Apraxia 51 0.217
547
PRL019 Prolidase Deficiency 50 0.217
548
P RSP003 Respiratory Failure 74 0.217
549
SVR001 Severe Acute Respiratory Syndrome 68 0.217
550
P LNG028 Long Qt Syndrome 63 0.217
551
P CNJ013 Conjunctivitis 66 0.217
552
P EPD003 Epidermolysis Bullosa Simplex 57 0.217
553
P KDN017 Kidney Cancer 60 0.217
554
ATN004 Autonomic Neuropathy 42 0.217
555
PLG002 Plague 58 0.217
556
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.217
557
GST019 Gastrointestinal Stromal Tumor 78 0.217
558
PTT037 Pituitary Tumors 44 0.217
559
CRV002 Cervix Uteri Carcinoma in Situ 48 0.217
560
P MTR014 Motor Neuron Disease 65 0.217
561
P EPS003 Episodic Ataxia 59 0.217
562
P BRT004 Bartter Disease 58 0.217
563
CRV045 Cervical Intraepithelial Neoplasia 38 0.217
564
HMP009 Haemophilus Influenzae 41 0.217
565
P TYR004 Tyrosinemia 49 0.217
566
P PRD021 Periodic Paralysis 42 0.217
567
INT262 Intermediate Maple Syrup Urine Disease 22 0.217
568
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 0.201
569
DWN001 Down Syndrome 70 0.201
570
c MCR115 Microvascular Complications of Diabetes 5 65 0.201
571
P DNG005 Dengue Virus 55 0.201
572
LBR036 Leber Plus Disease 67 0.201
573
P SNS001 Sensorineural Hearing Loss 59 0.201
574
PRT013 Portal Hypertension 59 0.201
575
c MGR028 Migraine with or Without Aura 1 64 0.201
576
c EPS042 Episodic Ataxia, Type 1 58 0.201
577
CLR109 Colorectal Adenocarcinoma 50 0.201
578
END057 Endometrial Cancer 71 0.201
579
P PTT014 Pitt-Hopkins Syndrome 63 0.201
580
PRM057 Paramyotonia Congenita of Von Eulenburg 58 0.201
581
DBT087 Diabetes Insipidus, Neurohypophyseal 58 0.201
582
PYR012 Pyruvate Dehydrogenase E1-Beta Deficiency 41 0.201
583
GLL008 Gilles De La Tourette Syndrome 64 0.201
584
P CRP001 Carpal Tunnel Syndrome 66 0.201
585
BLR001 Biliary Atresia 55 0.201
586
MLG169 Malignant Astrocytoma 57 0.201
587
P SBS003 Substance Abuse 54 0.201
588
PRT037 Pertussis 49 0.201
589
P THR015 Thrombophilia 51 0.201
590
P PRP029 Porphyria 60 0.201
591
ALC009 Alcoholic Liver Cirrhosis 54 0.201
592
P HYD006 Hydrocephalus 63 0.201
593
P MLN007 Male Infertility 56 0.201
594
TTN003 Tetanus 64 0.201
595
P ADL010 Adult Respiratory Distress Syndrome 71 0.201
596
PNC129 Pancreatic Adenocarcinoma 65 0.201
597
P GLM007 Glomerulonephritis 59 0.201
598
GST045 Gastroenteritis 58 0.201
599
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.201
600
LKP003 Leukoplakia 39 0.201
601
P DYS021 Dysautonomia 38 0.201
602
SPS057 Spasticity 43 0.201
603
YLL002 Yellow Fever 61 0.201
604
P PLM034 Pulmonary Emphysema 58 0.201
605
HYP264 Hypertonia 36 0.201
606
P LPS004 Lupus Erythematosus 61 0.201
607
P MSC005 Muscular Dystrophy 66 0.201
608
ETN001 Eating Disorder 59 0.201
609
CLF056 Cleft Lip with or Without Cleft Palate 43 0.201
610
ERL027 Early-Onset Non-Syndromic Cataract 31 0.201
611
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.184
612
P SPP010 Suppressor of Tumorigenicity 3 51 0.184
613
LSC001 Lesch-Nyhan Syndrome 62 0.184
614
DFF005 Diffuse Large B-Cell Lymphoma 55 0.184
615
c ALZ063 Alzheimer's Disease 1 32 0.184
616
BBN001 Bubonic Plague 40 0.184
617
P LPR021 Leprosy 3 71 0.184
618
P BRG001 Brugada Syndrome 69 0.184
619
P SCL018 Scoliosis 57 0.184
620
CRH005 Crohn's Colitis 53 0.184
621
c MLT159 Multiple Endocrine Neoplasia, Type Iib 60 0.184
622
P LNG064 Lung Cancer Susceptibility 3 70 0.184
623
ARG002 Argininosuccinic Aciduria 61 0.184
624
LPT014 Leptin Deficiency or Dysfunction 77 0.184
625
TBC004 Tobacco Addiction 63 0.184
626
NRT004 Neuritis 53 0.184
627
ACT098 Acute Erythroid Leukemia 55 0.184
628
INC003 Inclusion Conjunctivitis 35 0.184
629
CND002 Conduct Disorder 50 0.184
630
P MVM001 Movement Disease 61 0.184
631
SCH012 Schizoaffective Disorder 49 0.184
632
ENT004 Enthesopathy 51 0.184
633
IMP005 Impotence 52 0.184
634
P OST001 Osteopetrosis 70 0.184
635
P HYP069 Hyperparathyroidism 62 0.184
636
DNG002 Dengue Hemorrhagic Fever 59 0.184
637
TRC008 Trachoma 53 0.184
638
GNG013 Gingivitis 59 0.184
639
CLN015 Colon Adenocarcinoma 64 0.184
640
P TMP001 Temporal Lobe Epilepsy 49 0.184
641
PLM029 Palmoplantar Keratosis 48 0.184
642
PPL002 Papillary Carcinoma 46 0.184
643
P SPR120 Supranuclear Palsy, Progressive, 1 69 0.184
644
ANR007 Anorexia Nervosa 59 0.184
645
STR067 Stroke, Ischemic 79 0.184
646
c FML191 Familial Long Qt Syndrome 54 0.184
647
P LTT001 Lattice Corneal Dystrophy 30 0.184
648
AMY005 Amyloid Neuropathy 31 0.184
649
PNC016 Pancreatic Cholera 32 0.184
650
PRT036 Peritonitis 65 0.184
651
P NRF002 Neurofibromatosis 60 0.184
652
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.184
653
HNS001 Hansen's Disease 32 0.184
654
ORL012 Oral Leukoplakia 35 0.184
655
MCR004 Macroglobulinemia 48 0.184
656
P ERY008 Erythromelalgia 50 0.184
657
ADN090 Adenosylcobalamin Deficiency 35 0.184
658
c ACT135 Acute Graft Versus Host Disease 51 0.184
659
c SZR022 Seizures, Benign Familial Neonatal, 1 42 0.164
660
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.164
661
c ERY058 Erythrocytosis, Familial, 1 55 0.164
662
SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61 0.164
663
BDD001 Budd-Chiari Syndrome 62 0.164
664
c OPT025 Optic Atrophy 6 26 0.164
666
c LNG109 Lung Cancer Susceptibility 1 26 0.164
667
c BRG005 Brugada Syndrome 1 56 0.164
668
P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 41 0.164
669
MSC007 Muscle Hypertrophy 64 0.164
670
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 0.164
671
P PLM037 Pulmonary Hypertension 69 0.164
672
DSS032 Disease by Infectious Agent 55 0.164
673
MLT177 Multisystem Proteinopathy 30 0.164
674
RCK004 Rickets 65 0.164
675
P PLY014 Polycystic Kidney Disease 71 0.164
676
P OST135 Osteogenesis Imperfecta, Type I 60 0.164
677
PRX015 Paroxysmal Extreme Pain Disorder 56 0.164
678
c SPN225 Spondyloarthropathy 1 70 0.164
679
CYS013 Cystinuria 66 0.164
680
P FML018 Familial Mediterranean Fever 73 0.164
681
P SLP006 Sleep Apnea 69 0.164
682
HYP017 Hypophosphatemia 49 0.164
683
SWN001 Swine Influenza 45 0.164
684
PSR001 Psoriatic Arthritis 61 0.164
685
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.164
686
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.164
687
DMN031 Dementia, Lewy Body 65 0.164
688
c EXD008 Exudative Vitreoretinopathy 1 71 0.164
689
MST024 Mastocytosis, Cutaneous 66 0.164
690
c PNC108 Pancreatitis, Hereditary 68 0.164
691
c SYS001 Systemic Lupus Erythematosus 86 0.164
692
PMP006 Pemphigus Vulgaris, Familial 58 0.164
693
ALP103 Alpha-1-Antitrypsin Deficiency 67 0.164
694
c THR086 Thrombocythemia 3 28 0.164
695
P MMB011 Membranous Nephropathy 50 0.164
696
P MTR004 Maturity-Onset Diabetes of the Young 66 0.164
697
P SMK004 Smoking As a Quantitative Trait Locus 3 44 0.164
698
c LNG044 Long Qt Syndrome 1 66 0.164
699
LYM027 Lymphopenia 56 0.164
700
BRN024 Bronchitis 67 0.164
701
SPN051 Spondylitis 51 0.164
702
BLT006 Bilateral Breast Cancer 49 0.164
703
RCT015 Reactive Arthritis 60 0.164
704
ESP002 Esophageal Varix 51 0.164
705
P ATR010 Atrial Heart Septal Defect 58 0.164
706
KRT009 Keratosis 52 0.164
707
P ICH004 Ichthyosis 56 0.164
708
SYN007 Synovitis 54 0.164
709
HYP014 Hyperuricemia 51 0.164
710
SNS003 Sensory Peripheral Neuropathy 51 0.164
711
P ECL001 Eclampsia 52 0.164
712
CHR073 Choreatic Disease 53 0.164
713
P RNL007 Renal Tubular Acidosis 52 0.164
714
BNG006 Benign Familial Neonatal Epilepsy 54 0.164
715
P VNT002 Ventricular Septal Defect 58 0.164
716
LCH001 Leech Infestation 38 0.164
717
GRN055 Granular Corneal Dystrophy 36 0.164
718
INF009 Inflammatory Spondylopathy 30 0.164
719
PLC002 Plica Syndrome 35 0.164
720
ALC006 Alcoholic Hepatitis 61 0.164
721
P PLM036 Pulmonary Fibrosis 65 0.164
722
P TCD001 Tic Disorder 50 0.164
723
P PTT006 Pituitary Adenoma 55 0.164
724
P GLY013 Glycogen Storage Disease 59 0.164
725
BLR008 Bilirubin Metabolic Disorder 57 0.164
726
P HYP077 Hypertrichosis 48 0.164
727
CRV038 Cervical Squamous Cell Carcinoma 56 0.164
728
PSD009 Pseudohermaphroditism 47 0.164
729
CNS004 Constipation 56 0.164
730
GST040 Gastric Adenocarcinoma 66 0.164
731
MNK001 Menkes Disease 64 0.164
732
SQM013 Squamous Cell Carcinoma, Head and Neck 75 0.164
733
ADR007 Adrenoleukodystrophy 74 0.164
734
P CHR345 Chronic Pain 50 0.164
735
CHR028 Chronic Wasting Disease 33 0.164
736
DYS073 Dysphagia 53 0.164
737
P EPD009 Epidermolysis Bullosa Dystrophica 66 0.164
738
ALL014 Allergic Encephalomyelitis 34 0.164
739
ADR022 Adrenomyeloneuropathy 39 0.164
740
GST050 Gastrointestinal System Disease 55 0.164
741
P MTC069 Mitochondrial Disorders 57 0.164
742
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.164
743
P ENC004 Encephalitis 61 0.164
744
LRN003 Learning Disability 49 0.164
745
P ATR005 Atrophic Gastritis 50 0.164
746
P PMP001 Pemphigus 55 0.164
747
THY128 Thyroid Tumor 33 0.164
748
PRT058 Pure Autonomic Failure 58 0.164
749
DFF036 Differentiated Thyroid Carcinoma 51 0.164
750
HRD224 Hereditary Nonpolyposis Colon Cancer 51 0.164
751
c HRD156 Hereditary Central Diabetes Insipidus 24 0.164
752
ARG004 Argyria 26 0.164
753
BNG077 Benign Idiopathic Neonatal Seizures 22 0.164
754
CRB213 Cerebral Organic Aciduria 8 0.164
755
SPR166 Sporadic Fatal Insomnia 14 0.164
756
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.164
757
CLS049 Classic Phenylketonuria 42 0.164
758
P MTC003 Metachromatic Leukodystrophy 71 0.142
759
MTH077 Methylmalonic Aciduria, Cbla Type 45 0.142
760
LBR031 Leber Optic Atrophy and Dystonia 38 0.142
761
BRT005 Barth Syndrome 55 0.142
762
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64 0.142
763
P HYP802 Hypocalcemia, Autosomal Dominant 1 68 0.142
764
P TYS001 Tay-Sachs Disease 69 0.142
765
c HYP795 Hypothyroidism, Congenital, Nongoitrous, 4 47 0.142
766
WRN001 Werner Syndrome 69 0.142
767
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57 0.142
768
c LNG047 Long Qt Syndrome 2 58 0.142
769
c MCR112 Microvascular Complications of Diabetes 2 42 0.142
770
P MLT008 Multinodular Goiter 42 0.142
772
GLC106 Glucocorticoid Resistance, Generalized 48 0.142
773
P CHR071 Charcot-Marie-Tooth Disease 64 0.142
774
P FNC004 Fanconi Syndrome 60 0.142
775
MCR011 Microinvasive Gastric Cancer 41 0.142
776
RSP023 Rasopathy 54 0.142
777
PMP014 Pemphigoid 49 0.142
778
INT395 Intracranial Meningioma 48 0.142
779
P MMP001 Mumps 56 0.142
780
FNC009 Fanconi-Bickel Syndrome 53 0.142
781
DNH001 Donohue Syndrome 60 0.142
782
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 0.142
783
GLT035 Glutaric Acidemia I 57 0.142
784
P CLC063 Celiac Disease 1 66 0.142
785
AML029 Ameloblastoma 46 0.142
786
APH002 Aphasia 55 0.142
787
WTH001 Withdrawal Disorder 47 0.142
788
DNG001 Dengue Shock Syndrome 40 0.142
789
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 0.142
790
P APL001 Aplastic Anemia 73 0.142
791
PPL035 Papillary Thyroid Microcarcinoma 39 0.142
792
P MCR129 Microvascular Complications of Diabetes 1 68 0.142
793
c PRG043 Progressive Familial Heart Block, Type Ib 54 0.142
794
LNG108 Langerhans Cell Histiocytosis 57 0.142
795
c ALZ056 Alzheimer Disease 3 56 0.142
796
PLM102 Palmoplantar Keratoderma, Epidermolytic 55 0.142
797
EPD029 Epidermolysis Bullosa Simplex, Generalized 41 0.142
799
P MLN066 Melanoma, Cutaneous Malignant 1 66 0.142
800
PSD012 Pseudoachondroplasia 58 0.142
801
c PLM164 Pulmonary Hypertension, Primary, 1 80 0.142
802
P NNN008 Noonan Syndrome 1 76 0.142
803
c SCL052 Scleroderma, Familial Progressive 60 0.142
804
P HMG032 Hemoglobin H Disease 51 0.142
805
ACT088 Acute Insulin Response 39 0.142
806
BRN045 Brunner Syndrome 52 0.142
807
c PLM127 Pulmonary Hypertension, Primary, 3 34 0.142
808
c THR092 Thrombophilia Due to Thrombin Defect 74 0.142
809
BRC012 Brucellosis 66 0.142
810
STT001 Status Epilepticus 58 0.142
811
P BND020 Bone Disease 60 0.142
812
CYT005 Cytomegalovirus Retinitis 50 0.142
813
P PRG013 Paraganglioma 57 0.142
814
PNC001 Pancytopenia 52 0.142
815
P PNC025 Panic Disorder 52 0.142
816
FLL031 Follicular Adenoma 40 0.142
817
P ACN011 Acne 55 0.142
818
PRP016 Paraplegia 52 0.142
819
URN010 Urinary Tract Obstruction 55 0.142
820
AMN003 Amnestic Disorder 54 0.142
821
P CRN037 Craniosynostosis 67 0.142
822
PPL022 Papilloma 53 0.142
823
P RCT021 Rectum Cancer 54 0.142
824
ORC001 Orchitis 44 0.142
825
RGH001 Right Bundle Branch Block 47 0.142
826
P HYP050 Hyperinsulinemic Hypoglycemia 56 0.142
827
AMN001 Amenorrhea 53 0.142
828
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.142
829
P DDN001 Duodenal Ulcer 53 0.142
830
MGL001 Megaloblastic Anemia 59 0.142
831
TTH006 Tooth Disease 51 0.142
832
ASP004 Asphyxia Neonatorum 50 0.142
833
HMS001 Hemosiderosis 48 0.142
834
DNG003 Dengue Disease 65 0.142
835
IRN001 Iron Deficiency Anemia 58 0.142
836
P PRT026 Parotitis 42 0.142
837
P LYN001 Lynch Syndrome 76 0.142
838
INS001 Insulinoma 59 0.142
839
FDL002 Food Allergy 47 0.142
840
MSN004 Mesenchymal Cell Neoplasm 42 0.142
841
HST010 Histiocytosis 49 0.142
842
P RHN004 Rhinitis 57 0.142
843
BLD053 Blood Platelet Disease 51 0.142
844
PNC034 Pancreas Disease 49 0.142
845
CYS014 Cystadenocarcinoma 51 0.142
846
P THY023 Thymoma 64 0.142
847
P RTT002 Rett Syndrome 79 0.142
848
c ALP101 Alpha-Thalassemia 62 0.142
849
c PNC106 Pancreatic Agenesis 1 51 0.142
850
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.142
851
c THY107 Thymoma, Familial 42 0.142
852
MNN043 Meningioma, Familial 79 0.142
853
OST016 Osteochondrosis 52 0.142
854
SPS019 Spastic Paraparesis 38 0.142
855
HRT012 Heart Valve Disease 53 0.142
856
P MLT007 Multiple Epiphyseal Dysplasia 55 0.142
857
c HPT007 Hepatitis E 50 0.142
858
CLS040 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 38 0.142
859
OVR094 Ovarian Epithelial Cancer 39 0.142
860
HRP004 Herpes Zoster 60 0.142
861
MCL003 Macular Holes 44 0.142
862
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 0.142
863
SCR001 Secretory Meningioma 40 0.142
864
LYM002 Lymphoplasmacyte-Rich Meningioma 35 0.142
865
MTC005 Mitochondrial Metabolism Disease 45 0.142
866
P RBL001 Rubella 58 0.142
867
BLL006 Bullous Pemphigoid 61 0.142
868
c ALM001 Al Amyloidosis 54 0.142
869
INT007 Intermediate Coronary Syndrome 53 0.142
870
ANT024 Anthrax Disease 58 0.142
871
SBC016 Subacute Delirium 42 0.142
872
P MYT002 Myotonic Dystrophy 51 0.142
873
GGN002 Gigantism 33 0.142
874
P PRC019 Precocious Puberty 49 0.142
875
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 29 0.142
876
c PSD047 Pseudo-Turner Syndrome 52 0.142
877
PST092 Posttransplant Acute Limbic Encephalitis 29 0.142
878
P RRH023 Rare Hereditary Hemochromatosis 53 0.142
879
DSR078 Disorder of Branched-Chain Amino Acid Metabolism 9 0.142
880
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 26 0.142
881
GST092 Gastroesophageal Reflux 60 0.116
882
c CNG415 Congenital Disorder of Glycosylation, Type Ia 58 0.116
883
P CHN012 Chondrosarcoma 56 0.116
884
MTH078 Methylmalonic Aciduria, Cblb Type 47 0.116
885
HLC007 Helicobacter Pylori Infection 67 0.116
886
c GLL024 Gallbladder Disease 1 53 0.116
887
c PRD040 Periodontitis, Chronic 52 0.116
888
PRP082 Porphyria, Congenital Erythropoietic 56 0.116
889
THR051 Thrombocytopenia with Beta-Thalassemia, X-Linked 44 0.116
890
c TYR012 Tyrosinemia, Type I 61 0.116
891
VLC001 Velocardiofacial Syndrome 57 0.116
892
PND002 Pendred Syndrome 57 0.116
893
c VTM027 Vitamin D-Dependent Rickets, Type 2a 55 0.116
894
WLS001 Wilson Disease 70 0.116
895
THR097 Thrombocytopenia, X-Linked, with or Without Dyserythropoietic Anemia 28 0.116
896
GRN037 Granulomatosis with Polyangiitis 67 0.116
897
c ORF025 Orofacial Cleft 6 25 0.116
898
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 55 0.116
899
P PRP056 Porphyria, Acute Hepatic 48 0.116
900
c MYC083 Myoclonic Epilepsy, Familial Infantile 41 0.116
901
ALV005 Alveolar Soft Part Sarcoma 61 0.116
902
WST005 West Nile Virus 55 0.116
903
c BRT029 Brittle Cornea Syndrome 2 33 0.116
904
c ATM101 Autoimmune Gastritis 40 0.116
905
FCT002 Factor Xi Deficiency 61 0.116
906
HYP110 Hyperproinsulinemia 36 0.116
907
CRP030 Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia 37 0.116
908
c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35 0.116
909
P VTL001 Vitelliform Macular Dystrophy 45 0.116
910
DRG013 Drug-Induced Lupus Erythematosus 49 0.116
911
OCC016 Occupational Asthma 33 0.116
912
P LCT002 Lactose Intolerance 52 0.116
913
MCR013 Microphthalmia 60 0.116
914
P WLF004 Wolfram Syndrome 61 0.116
915
P OPN001 Open-Angle Glaucoma 55 0.116
916
P LKD001 Leukodystrophy 58 0.116
917
PLV003 Pelvic Inflammatory Disease 54 0.116
918
P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 37 0.116
919
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.116
920
CHL152 Childhood Acute Lymphocytic Leukemia 50 0.116
921
P DVL113 Developmental and Epileptic Encephalopathy 45 0.116
922
CYS005 Cysticercosis 60 0.116
923
P RNL015 Renal Hypertension 45 0.116
924
MRF001 Marfan Syndrome 76 0.116
925
P MYS005 Myositis 56 0.116
926
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.116
927
P STS008 Sotos Syndrome 1 62 0.116
928
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 0.116
929
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 0.116
930
c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 51 0.116
931
P GLC113 Galactosemia I 65 0.116
932
P HYP768 Hyperlipoproteinemia, Type I 67 0.116
933
c DFN097 Deafness, Autosomal Recessive 1a 49 0.116
934
c WLF013 Wolfram Syndrome 1 60 0.116
935
c BRT028 Brittle Cornea Syndrome 1 39 0.116
936
c DWL002 Dowling-Degos Disease 1 58 0.116
937
SPN008 Spondyloepiphyseal Dysplasia Congenita 54 0.116
938
P HYP760 Hypothyroidism, Congenital, Nongoitrous, 2 54 0.116
939
CNT056 Cantu Syndrome 48 0.116
940
VNH007 Von Hippel-Lindau Syndrome 73 0.116
941
GST071 Gastrointestinal Carcinoma 46 0.116
942
c FML001 Familial Atrial Fibrillation 65 0.116
943
P CRD119 Cardiac Arrest 68 0.116
944
P FML023 Familial Hemiplegic Migraine 53 0.116
945
AND014 Androgenic Alopecia 46 0.116
946