Search results for Glycine

2927 hits were found for Glycine

# Family MCID Name MIFTS Score
1
GLY010 Glycine Encephalopathy 57 50.895
2
GLY094 Glycine Encephalopathy with Normal Serum Glycine 24 38.913
3
GLY015 Glycine N-Methyltransferase Deficiency 40 37.643
4
RPD005 Rapidly Involuting Congenital Hemangioma 46 16.069
5
HYP003 Hypermethioninemia 51 14.899
6
HLX001 Helix Syndrome 48 13.868
7
P HYP097 Hyperekplexia 62 13.867
8
ATY025 Atypical Glycine Encephalopathy 16 11.887
9
P SCH015 Schizophrenia 74 10.634
10
P ENC018 Encephalopathy 62 10.446
11
DSR076 Disorder of Serine or Glycine Metabolism 3 9.691
12
c NRL032 Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect 2 9.691
13
PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 43 8.788
14
BRT054 Brittle Bone Disorder 74 8.766
15
IRN002 Iron Metabolism Disease 57 8.731
16
PRP001 Propionic Acidemia 65 8.322
17
DFC004 Deficiency Anemia 74 8.059
18
P SZR006 Seizure Disorder 70 7.495
19
P HYP265 Hypotonia 42 7.439
20
P LTR001 Lateral Sclerosis 58 7.137
21
JMP002 Jumping Frenchmen of Maine 21 7.129
22
c AMY091 Amyotrophic Lateral Sclerosis 1 88 7.112
23
ALC007 Alcohol Dependence 66 6.939
24
STF001 Stiff-Person Syndrome 58 6.619
25
P MYC033 Myoclonus 47 6.554
26
P EPD016 Epidermolysis Bullosa 53 6.408
27
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 6.353
28
IRN001 Iron Deficiency Anemia 58 6.352
29
P CHR345 Chronic Pain 50 6.018
30
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 5.938
31
NNL005 Non-Alcoholic Fatty Liver Disease 63 5.849
32
P EPD009 Epidermolysis Bullosa Dystrophica 66 5.774
33
CHL014 Cholera 62 5.671
34
48X005 48,xyyy 39 5.544
35
SPS057 Spasticity 42 5.500
36
HYP264 Hypertonia 36 5.479
37
CYS001 Cystic Fibrosis 78 5.420
38
P ALC033 Alcohol Use Disorder 61 5.351
39
ATS010 Autosomal Recessive Disease 42 5.342
40
IMN001 Iminoglycinuria 41 5.301
41
ANX004 Anoxia 40 5.244
42
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 5.229
43
PHS023 Phosphoserine Aminotransferase Deficiency 41 5.228
44
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 5.212
45
P DRR001 Diarrhea 55 5.174
46
HYP348 Hyperglycinuria 38 5.148
47
HYP266 Hypoxia 57 5.130
48
P PRD008 Periodontitis 64 5.091
49
PRT037 Pertussis 65 5.030
50
GLB002 Glioblastoma 67 4.944
51
P NRB001 Neuroblastoma 66 4.931
52
CHL068 Cholestasis 61 4.918
53
GLL048 Glial Tumor 52 4.887
54
GLM045 Glioma 63 4.856
55
P LVR013 Liver Disease 69 4.848
56
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 4.826
57
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 4.823
58
CRB004 Cerebral Artery Occlusion 45 4.798
59
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 4.788
60
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 4.788
61
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 4.788
62
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 4.788
63
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 4.788
64
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 4.788
65
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 4.788
66
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 4.788
67
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 4.788
68
PNG002 Pain Agnosia 51 4.781
69
FTT001 Fatty Liver Disease 62 4.699
70
OCL069 Ocular Motor Apraxia 57 4.610
71
P EPL164 Epilepsy 68 4.567
72
47X002 47,xyy 48 4.565
73
HMN044 Human Immunodeficiency Virus Type 1 78 4.561
74
PSY004 Psychotic Disorder 66 4.555
75
c HYP699 Hyperekplexia 1 44 4.527
76
P MYP004 Myopathy 67 4.479
77
P TRM003 Tremor 48 4.426
78
c TYP009 Type 2 Diabetes Mellitus 92 4.410
79
ISV001 Isovaleric Acidemia 54 4.377
80
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 4.373
81
PPL052 Papillomatosis, Confluent and Reticulated 34 4.316
82
P HPT023 Hepatocellular Carcinoma 96 4.300
83
P PRM002 Primary Hyperoxaluria 65 4.294
84
ISC004 Ischemia 61 4.286
85
PHS021 Phosphoglycerate Dehydrogenase Deficiency 47 4.283
86
HMC014 Homocysteinemia 52 4.273
87
SPN186 Spinal Cord Injury 61 4.265
88
c OST080 Osteogenesis Imperfecta, Type Ii 56 4.253
89
HYP066 Hyperglycemia 61 4.161
90
OBS002 Obsessive-Compulsive Disorder 68 4.137
91
DPR016 Depression 65 4.133
92
PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 21 4.111
93
P BPL003 Bipolar Disorder 56 4.099
94
P PRK039 Parkinsonism 55 4.093
95
ADG002 Audiogenic Seizures 25 4.082
96
P EHL001 Ehlers-Danlos Syndrome 58 4.075
97
c MJR022 Major Affective Disorder 8 38 4.075
98
c MJR024 Major Affective Disorder 9 41 4.075
99
P MVM001 Movement Disease 61 4.055
100
P MJR001 Major Depressive Disorder 68 4.032
101
MNT002 Mental Depression 57 4.011
102
TTN003 Tetanus 65 3.953
103
HRW001 Hair Whorl 35 3.923
104
P MSC003 Muscular Atrophy 52 3.883
105
c INH020 Inherited Metabolic Disorder 48 3.877
106
PLY100 Polyploidy 36 3.850
107
LPD008 Lipid Metabolism Disorder 62 3.771
108
c ACT071 Acute Kidney Failure 60 3.767
109
NNL006 Non-Alcoholic Steatohepatitis 54 3.763
110
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 36 3.728
111
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 30 3.716
112
HMP009 Haemophilus Influenzae 41 3.694
113
MDD011 Mood Disorder 62 3.691
114
FRN006 Frontotemporal Dementia 68 3.684
115
P ATS364 Autism 69 3.680
116
P MSC005 Muscular Dystrophy 67 3.665
117
SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 23 3.663
118
GLY105 Glyt1 Encephalopathy 7 3.632
119
c CHR684 Chronic Kidney Disease 69 3.615
120
P RSP003 Respiratory Failure 74 3.615
121
LVR012 Liver Cirrhosis 63 3.547
122
P ENC004 Encephalitis 61 3.536
123
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 3.525
124
IMM167 Immune Deficiency Disease 78 3.519
125
SRC015 Sarcosinemia 38 3.492
126
HYP056 Hypoglycemia 65 3.473
127
c ATS007 Autism Spectrum Disorder 72 3.460
128
MTB004 Metabolic Acidosis 48 3.454
129
P CLR023 Colorectal Cancer 100 3.432
130
c BRN108 Branchiootic Syndrome 1 62 3.393
131
P CTR002 Cataract 60 3.390
132
CYT002 Cytokine Deficiency 43 3.386
133
P HPT021 Hepatitis 69 3.381
134
AGN016 Aging 54 3.380
135
NRL016 Neural Tube Defects 81 3.379
136
STT001 Status Epilepticus 59 3.369
137
OST012 Osteoarthritis 77 3.365
138
c HYP595 Hypertension, Essential 85 3.342
139
c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 52 3.313
140
HPT004 Hepatic Coma 43 3.302
141
HPT019 Hepatic Encephalopathy 59 3.302
142
P HNT016 Huntington Disease 73 3.258
143
P PRS040 Prostate Cancer 95 3.239
144
P ALP004 Alport Syndrome 69 3.216
145
P RCS002 Recessive Dystrophic Epidermolysis Bullosa 62 3.198
146
PST092 Posttransplant Acute Limbic Encephalitis 28 3.197
147
PRS021 Prostatic Adenoma 43 3.188
148
P MJR007 Major Affective Disorder 1 42 3.187
149
P GLM040 Glioma Susceptibility 1 71 3.187
150
EHL052 Ehlers-Danlos Syndrome, Vascular Type 65 3.186
151
c GLL024 Gallbladder Disease 1 52 3.185
152
OST159 Osteogenic Sarcoma 66 3.181
153
P VSC007 Vascular Disease 63 3.176
154
P HMC002 Homocystinuria 53 3.162
155
P PRP029 Porphyria 60 3.162
156
P MTH008 Methylmalonic Acidemia 52 3.142
157
PRS045 Prostatic Hypertrophy 53 3.135
158
INS024 Insulin-Like Growth Factor I 78 3.128
159
P OST122 Osteogenesis Imperfecta, Type Iii 57 3.128
160
P KDN018 Kidney Disease 72 3.097
161
GST045 Gastroenteritis 58 3.092
162
P LNG032 Lung Cancer 98 3.045
163
P BRS047 Breast Cancer 98 3.029
164
P TMP001 Temporal Lobe Epilepsy 49 3.022
165
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 3.019
166
DGL002 D-Glyceric Aciduria 41 3.005
167
URM002 Uremia 47 2.995
168
MTH009 Mouth Disease 57 2.995
169
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 39 2.994
170
CHR073 Choreatic Disease 54 2.994
171
SPN035 Spindle Cell Sarcoma 54 2.983
172
SRC014 Sarcoma 65 2.983
173
GT001 Gout 64 2.979
174
c HYP836 Hypercholesterolemia, Familial, 1 73 2.962
175
AMN003 Amnestic Disorder 54 2.960
176
VCC001 Vaccinia 47 2.960
177
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 2.916
178
CLT003 Colitis 63 2.897
179
SVR001 Severe Acute Respiratory Syndrome 67 2.896
180
P CRN300 Coronary Heart Disease 1 73 2.895
181
PRS129 Prostatic Hyperplasia, Benign 49 2.895
182
c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 35 2.870
183
c PRD040 Periodontitis, Chronic 52 2.865
184
PLM129 Pulmonary Disease, Chronic Obstructive 74 2.863
185
LNG099 Lung Disease 62 2.863
186
THY029 Thyroid Carcinoma 51 2.854
187
SCH012 Schizoaffective Disorder 50 2.851
188
P ADL010 Adult Respiratory Distress Syndrome 71 2.846
189
AMN006 Aminoaciduria 37 2.841
190
DWR001 Dwarfism 44 2.838
191
PPT005 Peptic Ulcer Disease 58 2.829
192
P MCR010 Microcephaly 60 2.819
193
NTR005 Nutritional Deficiency Disease 61 2.811
194
PLY150 Polykaryocytosis Inducer 29 2.808
195
P MTR014 Motor Neuron Disease 65 2.785
196
c HPT016 Hepatitis B 62 2.777
197
P ALZ034 Alzheimer Disease 87 2.773
198
P NRP001 Neuropathy 60 2.770
199
BRN071 Brain Injury 50 2.770
200
CHR074 Choriocarcinoma 46 2.756
201
ISL099 Isolated Methylmalonic Acidemia 36 2.739
202
PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 50 2.729
203
P HRP006 Herpes Simplex 65 2.722
204
ATH013 Atherosclerosis Susceptibility 63 2.720
205
P AMY004 Amyloidosis 70 2.719
206
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 2.715
207
P SDR003 Sideroblastic Anemia 51 2.714
208
BRN004 Brain Edema 54 2.714
209
P PLM037 Pulmonary Hypertension 72 2.708
210
BCT022 Bacterial Infectious Disease 56 2.692
211
TXC005 Toxic Shock Syndrome 62 2.691
212
P DYS154 Dystonia 64 2.689
213
P HYP086 Hypothyroidism 69 2.672
214
P RTN024 Retinoblastoma 73 2.647
215
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 2.647
216
c OST135 Osteogenesis Imperfecta, Type I 53 2.645
217
MCS002 Mucositis 56 2.642
218
P DBT009 Diabetes Mellitus 67 2.619
219
P INF038 Influenza 68 2.619
220
P HYD006 Hydrocephalus 61 2.607
221
MLG169 Malignant Astrocytoma 57 2.604
222
P PNC035 Pancreatic Cancer 86 2.597
223
DRM006 Dermatitis 62 2.589
224
ALC006 Alcoholic Hepatitis 61 2.578
225
CVT001 Cavitary Optic Disc Anomalies 37 2.565
226
BNR002 Bone Resorption Disease 47 2.539
227
SCH003 Schizophreniform Disorder 55 2.538
228
PRM236 Primary Biliary Cholangitis 60 2.532
229
P PRS038 Personality Disorder 65 2.530
230
TRM010 Traumatic Brain Injury 51 2.516
231
HYP060 Hyperinsulinism 54 2.516
232
STM007 Stomatitis 54 2.508
233
c PCH010 Pachyonychia Congenita 3 43 2.493
234
PRT251 Proteinuria, Chronic Benign 57 2.484
235
P MYC084 Mycobacterium Tuberculosis 1 68 2.475
236
c ACT004 Acute Diarrhea 40 2.473
237
PST028 Post-Traumatic Stress Disorder 59 2.470
238
THY111 Thyroid Carcinoma, Familial Medullary 67 2.469
239
P LCT001 Lactic Acidosis 51 2.459
240
P GLY013 Glycogen Storage Disease 60 2.457
241
c OST121 Osteogenesis Imperfecta, Type Iv 49 2.450
242
c DNT047 Dentinogenesis Imperfecta Type 2 35 2.434
243
P GST044 Gastritis 55 2.432
244
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66 2.429
245
P LKM062 Leukemia, Acute Lymphoblastic 69 2.426
246
LPT014 Leptin Deficiency or Dysfunction 78 2.424
247
c ACT134 Acute Liver Failure 59 2.409
248
ALL029 Allergic Disease 59 2.399
249
FCL014 Focal Epilepsy 53 2.399
250
PLM010 Pulmonary Edema 55 2.399
251
P NSP012 Nasopharyngeal Carcinoma 61 2.396
252
THY125 Thyroid Gland Medullary Carcinoma 48 2.386
253
XLN231 X-Linked Alport Syndrome 41 2.370
254
P PNC044 Pancreatitis 61 2.364
255
P BCL017 B-Cell Lymphoma 59 2.357
256
CRT015 Carotid Artery Occlusion 45 2.356
257
P PRN023 Prion Disease 60 2.350
258
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 41 2.346
259
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 2.329
260
c LKM005 Leukemia, T-Cell, Chronic 34 2.329
261
c HYP794 Hyperoxaluria, Primary, Type I 63 2.325
262
P LKD001 Leukodystrophy 59 2.321
263
c HPT003 Hepatitis a 63 2.321
264
P MYC007 Myocardial Infarction 70 2.318
265
SVR004 Severe Combined Immunodeficiency 72 2.318
266
SKN016 Skin Disease 63 2.313
267
PHN003 Phenylketonuria 76 2.313
268
DMT001 Dimethylglycine Dehydrogenase Deficiency 27 2.302
269
c HYP597 Hyperprolinemia, Type Ii 43 2.286
270
CYS013 Cystinuria 66 2.278
271
P SPN046 Spinal Muscular Atrophy 63 2.270
272
P PRP019 Peripheral Nervous System Disease 58 2.270
273
CRT055 Creatine Deficiency Syndromes 37 2.266
274
P PRK057 Parkinson Disease, Late-Onset 80 2.253
275
BLR008 Bilirubin Metabolic Disorder 57 2.247
276
CMM005 Common Cold 56 2.246
277
P PHC003 Pheochromocytoma 69 2.245
278
ADR040 Adrenal Gland Pheochromocytoma 46 2.245
279
CHL065 Cholangiocarcinoma 58 2.235
280
INT079 Intrahepatic Cholangiocarcinoma 51 2.235
281
SQM006 Squamous Cell Carcinoma 60 2.229
282
P NPH012 Nephrotic Syndrome 60 2.222
283
DPH001 Diphtheria 59 2.221
284
WTH001 Withdrawal Disorder 48 2.220
285
PLC006 Placental Choriocarcinoma 38 2.220
286
TND005 Tendinitis 54 2.217
287
GLC003 Glucose Intolerance 54 2.217
288
P HMP007 Hemophilia 52 2.217
289
CL1007 Col1a1/2 Osteogenesis Imperfecta 26 2.217
290
ARG007 Argininemia 58 2.202
291
c HPT073 Hepatitis C Virus 71 2.196
292
NPH009 Nephrolithiasis 54 2.191
293
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 2.172
294
MDD018 Middle East Respiratory Syndrome 44 2.172
295
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 2.165
296
ORG002 Organic Acidemia 44 2.159
297
CLF027 Cleft Palate, Isolated 64 2.158
298
c ATR087 Atrial Standstill 1 74 2.149
299
P HYP061 Hypertrophic Cardiomyopathy 69 2.149
300
c MCR130 Microvascular Complications of Diabetes 6 41 2.144
301
c MCR120 Microvascular Complications of Diabetes 7 47 2.144
302
c MCR113 Microvascular Complications of Diabetes 3 52 2.144
303
c MCR133 Microvascular Complications of Diabetes 4 41 2.144
304
GST033 Gestational Diabetes 61 2.144
305
P HYP111 Hyperprolinemia 45 2.143
306
c MJR006 Major Affective Disorder 5 32 2.140
307
c MJR003 Major Affective Disorder 6 32 2.140
308
c ATM075 Autoimmune Encephalitis 40 2.137
309
c HPT001 Hepatitis C 62 2.118
310
c DRR009 Diarrhea 6 45 2.112
312
CLN015 Colon Adenocarcinoma 65 2.108
313
CRB090 Cerebral Hypoxia 42 2.108
314
P AST005 Asthma 76 2.101
315
P THL005 Thalassemia 56 2.101
316
PRT038 Protein-Energy Malnutrition 53 2.100
317
CRH001 Crohn's Disease 80 2.098
318
P NMN002 Niemann-Pick Disease 60 2.098
319
RCK004 Rickets 68 2.095
320
VTM002 Vitamin B12 Deficiency 48 2.091
321
P FTL001 Fetal Alcohol Syndrome 55 2.091
322
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 2.087
323
CNG506 Congenital Amyoplasia 27 2.078
324
P SLP005 Sleep Disorder 61 2.078
325
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 34 2.078
327
DWN001 Down Syndrome 70 2.063
328
PYR009 Pyridoxine Deficiency Anemia 35 2.063
329
P RCT021 Rectum Cancer 54 2.063
330
EPD022 Epidermolysis Bullosa Pruriginosa 39 2.056
331
TRD006 Tardive Dyskinesia 53 2.048
332
P MLN008 Melanoma 76 2.048
333
ALL014 Allergic Encephalomyelitis 34 2.048
334
LYM019 Lymphosarcoma 46 2.046
335
NRR001 Neuroretinitis 42 2.036
336
RTN023 Retinitis 46 2.036
337
ACY011 Acyl-Coa Dehydrogenase Deficiency 30 2.036
338
P BRS044 Breast Adenocarcinoma 58 2.036
339
P BND020 Bone Disease 59 2.036
340
HYP141 Hyperphenylalaninemia 42 2.036
341
URL001 Urolithiasis 46 2.029
342
P TCD001 Tic Disorder 49 2.029
343
RBS001 Rabies 58 2.026
344
P PLM036 Pulmonary Fibrosis 66 2.023
345
BNG077 Benign Idiopathic Neonatal Seizures 23 2.017
346
MTH071 Methane Production 25 2.017
347
P SCL018 Scoliosis 57 2.017
348
CNT019 Central Neurocytoma 46 2.017
349
c ACT075 Acute Myocardial Infarction 56 2.007
350
PRP016 Paraplegia 52 2.007
351
ACT084 Acute Stress Disorder 54 2.007
352
MLY001 Molybdenum Cofactor Deficiency 40 2.006
353
P HML002 Hemolytic Anemia 62 2.001
354
LPP008 Lipoprotein Quantitative Trait Locus 65 2.000
355
CHL123 Chlamydia 58 1.995
356
ANT024 Anthrax Disease 58 1.987
357
c MGR028 Migraine with or Without Aura 1 64 1.986
358
BRN024 Bronchitis 67 1.986
359
PFF001 Pfeiffer Syndrome 77 1.979
360
P ADN016 Adenocarcinoma 63 1.979
361
HYP014 Hyperuricemia 51 1.979
362
DSS008 Disease of Mental Health 74 1.976
363
c ACT027 Acute Pancreatitis 60 1.976
364
P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 36 1.972
365
c NMN015 Niemann-Pick Disease, Type C1 68 1.966
366
P MYL006 Myeloid Leukemia 61 1.966
367
END086 End Stage Renal Disease 52 1.966
368
c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 41 1.960
369
P STC001 Stickler Syndrome 60 1.960
370
P SBS003 Substance Abuse 54 1.953
371
P OBS001 Obstructive Jaundice 48 1.949
372
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 45 1.940
373
ART140 Arteries, Anomalies of 53 1.931
374
c LKM061 Leukemia, Acute Myeloid 83 1.931
375
P RTT002 Rett Syndrome 79 1.930
376
CNN005 Connective Tissue Disease 67 1.923
377
STR067 Stroke, Ischemic 80 1.920
378
P OVR082 Overgrowth Syndrome 49 1.919
379
P RTN008 Retinitis Pigmentosa 80 1.919
380
P OST002 Osteoporosis 76 1.919
381
ANG054 Angina Pectoris 66 1.919
382
P THR014 Thrombocytopenia 66 1.919
383
P GST053 Gastric Cancer 83 1.914
384
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50 1.905
385
P LKM002 Leukemia 67 1.904
386
ANX010 Anxiety 70 1.895
387
P OVR042 Ovarian Cancer 88 1.895
388
ACH004 Achondroplasia 66 1.895
389
LSC001 Lesch-Nyhan Syndrome 62 1.888
390
RTN017 Retinal Detachment 60 1.888
391
ZLL002 Zollinger-Ellison Syndrome 55 1.888
392
HYP005 Hypokalemia 55 1.888
393
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 1.886
394
P JNC001 Junctional Epidermolysis Bullosa 53 1.886
395
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 1.882
396
SPN008 Spondyloepiphyseal Dysplasia Congenita 54 1.856
397
URT049 Urate Oxidase, Pseudogene 24 1.856
398
c MJR023 Major Affective Disorder 7 33 1.854
399
c MJR004 Major Affective Disorder 4 28 1.854
400
c MJR008 Major Affective Disorder 2 34 1.854
401
P BTH005 Bethlem Myopathy 1 62 1.850
402
HYP041 Hypochondrogenesis 35 1.850
403
TCL027 T-Cell Acute Lymphoblastic Leukemia 51 1.850
404
MNN017 Mononeuropathy 41 1.850
405
GST023 Gastric Ulcer 52 1.850
406
P BNC003 Bone Cancer 58 1.847
407
ENC055 Encephalopathy, Ethylmalonic 51 1.842
408
P DMN002 Dementia 66 1.839
409
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 47 1.837
410
P MPL001 Maple Syrup Urine Disease 70 1.837
411
c MCR115 Microvascular Complications of Diabetes 5 65 1.824
412
MNN043 Meningioma, Familial 79 1.824
413
SCR001 Secretory Meningioma 40 1.824
414
LYM002 Lymphoplasmacyte-Rich Meningioma 35 1.824
415
SPN021 Spinal Meningioma 50 1.824
416
ERL001 Early Myoclonic Encephalopathy 62 1.819
417
MYL069 Myeloma, Multiple 77 1.818
418
PHS022 Phosphoserine Phosphatase Deficiency 37 1.815
419
P PLY019 Polyneuropathy 52 1.810
420
EXT006 Extrahepatic Cholestasis 40 1.810
421
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 59 1.791
422
PRL019 Prolidase Deficiency 50 1.791
423
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 1.791
424
WST001 West Syndrome 59 1.791
425
ACT098 Acute Erythroid Leukemia 55 1.791
426
SCR011 Scrapie 39 1.791
427
P DNG005 Dengue Virus 56 1.791
428
SPS019 Spastic Paraparesis 38 1.780
429
P LNG028 Long Qt Syndrome 64 1.780
430
PTH003 Pathologic Nystagmus 52 1.780
431
P HYP750 Hypertriglyceridemia, Familial 62 1.777
432
ULC004 Ulcerative Colitis 74 1.777
433
ORL015 Oral Squamous Cell Carcinoma 43 1.756
434
EMB004 Embryonal Carcinoma 56 1.756
435
P GLM007 Glomerulonephritis 60 1.756
436
HDN002 Head Injury 44 1.756
437
LMY002 Leiomyoma 51 1.756
438
P CRD119 Cardiac Arrest 67 1.738
439
P ACH011 Achondrogenesis 53 1.738
440
PRT036 Peritonitis 65 1.735
441
P GRF003 Graft-Versus-Host Disease 71 1.735
442
P ULL002 Ullrich Congenital Muscular Dystrophy 1 57 1.721
443
MSC157 Muscular Dystrophy, Duchenne Type 79 1.721
444
c SYS001 Systemic Lupus Erythematosus 87 1.721
445
MLR004 Malaria 80 1.721
446
MST005 Mastitis 53 1.721
447
MCR018 Microcytic Anemia 47 1.721
448
P ART021 Arteriosclerosis 54 1.721
449
P LNG064 Lung Cancer Susceptibility 3 70 1.719
450
P DDN001 Duodenal Ulcer 53 1.719
451
P FBR017 Fibrosarcoma 56 1.718
452
OBS003 Obsessive-Compulsive Personality Disorder 43 1.714
453
PLM031 Poliomyelitis 63 1.712
454
P INT068 Intestinal Disease 53 1.712
455
P ALP106 Alport Syndrome 1, X-Linked 47 1.697
456
P CYS018 Cystitis 59 1.697
457
ERY069 Erythrokeratoderma ''en Cocardes'' 27 1.697
458
INT066 Interstitial Lung Disease 60 1.691
459
c TYP008 Type 1 Diabetes Mellitus 70 1.688
460
FBR011 Fibrodysplasia Ossificans Progressiva 67 1.688
461
MRF001 Marfan Syndrome 76 1.685
462
GST030 Gastrinoma 45 1.685
464
ADL002 Adult Syndrome 70 1.682
465
LKN001 Leukoencephalopathy with Vanishing White Matter 63 1.680
466
CHL150 Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter 24 1.680
467
ARG004 Argyria 26 1.670
468
CRB150 Cerebral Creatine Deficiency Syndrome 2 54 1.658
469
ALL006 Allergic Asthma 56 1.658
470
LMB024 Limbic Encephalitis 43 1.655
471
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 1.655
472
RMS001 Rem Sleep Behavior Disorder 47 1.655
473
P RTN018 Retinal Disease 53 1.655
474
c ACH041 Achondrogenesis, Type Ii 54 1.655
475
P ART022 Arthritis 71 1.655
476
P MYS003 Myasthenia Gravis 68 1.647
477
HND015 Hand Skill, Relative 30 1.647
478
NRM021 Neurometabolic Disorder Due to Serine Deficiency 15 1.645
479
SRN001 Serine Deficiency 24 1.645
480
CRY005 Cryptococcosis 60 1.645
481
GRW007 Growth Hormone Deficiency 46 1.645
482
c NMN014 Niemann-Pick Disease, Type C2 49 1.643
483
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 1.622
484
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 1.622
485
GLT007 Glutathione Synthetase Deficiency 48 1.622
486
HMS001 Hemosiderosis 48 1.622
487
HGH043 High Grade Glioma 45 1.622
488
CHL045 Choline Deficiency Disease 39 1.619
489
P MYS005 Myositis 56 1.611
490
c VRL010 Viral Hepatitis 53 1.611
491
HYP001 Hypochromic Microcytic Anemia 37 1.608
492
KRT019 Keratitis, Hereditary 66 1.608
493
P MNC007 Monocytic Leukemia 47 1.608
494
CYS010 Cystinosis 62 1.608
495
KWS001 Kwashiorkor 45 1.604
496
PLC008 Placenta Disease 49 1.597
497
P URN019 Urinary Tract Infection 49 1.588
498
ORT008 Orotic Aciduria 57 1.588
499
P ATT013 Attention Deficit-Hyperactivity Disorder 64 1.588
500
P RRH023 Rare Hereditary Hemochromatosis 54 1.588
501
c DLT002 Dilated Cardiomyopathy 78 1.588
502
P ICH004 Ichthyosis 56 1.588
503
NPH091 Nephrolithiasis, Calcium Oxalate 61 1.572
504
FDL002 Food Allergy 47 1.572
505
CLF001 Cleft Lip 53 1.568
506
RCT015 Reactive Arthritis 61 1.568
507
MRP001 Morphine Dependence 42 1.568
508
P TYR004 Tyrosinemia 50 1.563
509
SPS003 Spastic Diplegia 53 1.563
510
DSS032 Disease by Infectious Agent 55 1.559
511
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59 1.552
512
P EXN002 Exanthem 58 1.552
513
P FNC004 Fanconi Syndrome 60 1.552
514
CRB039 Cerebrovascular Disease 66 1.552
515
P LYM118 Lymphoma 67 1.543
516
P FRG001 Fragile X Syndrome 70 1.542
517
DGN001 Degenerative Disc Disease 49 1.527
518
NRM022 Neurometabolic Disease 24 1.525
519
MLK006 Milk Allergy 47 1.525
520
c ACT068 Acute Cystitis 61 1.525
521
P HYP076 Hyperthyroidism 53 1.525
522
SPN092 Spinal Shock 19 1.525
523
c DVL034 Developmental and Epileptic Encephalopathy 3 44 1.521
524
ADR022 Adrenomyeloneuropathy 39 1.516
525
P DRM053 Dermatitis, Atopic 65 1.516
526
P INF037 Inflammatory Bowel Disease 53 1.516
527
EWN003 Ewing Sarcoma 70 1.516
528
c SML038 Small Cell Cancer of the Lung 69 1.516
529
P TBR001 Tuberous Sclerosis 69 1.516
530
P HRT032 Heart Disease 81 1.516
531
MYC005 Myocardial Stunning 46 1.516
532
MYT011 Myotonia 39 1.516
533
CMP010 Complex Regional Pain Syndrome 60 1.515
534
PNC041 Pancreatic Ductal Adenocarcinoma 51 1.499
535
P BLD134 Bladder Cancer 79 1.488
536
HLC007 Helicobacter Pylori Infection 67 1.488
537
P PSR002 Psoriasis 63 1.487
538
PST011 Pustulosis of Palm and Sole 52 1.487
539
P THY032 Thyroiditis 57 1.487
540
HMN014 Human Immunodeficiency Virus Infectious Disease 54 1.487
541
c HYP510 Hyperekplexia 2 25 1.481
542
P HYP098 Hypereosinophilic Syndrome 66 1.481
543
c SPR097 Sporadic Hyperekplexia 12 1.481
544
BRN028 Brain Cancer 74 1.481
545
RYS001 Reye Syndrome 49 1.481
546
ATN005 Autonomic Dysfunction 46 1.481
547
c HMN021 Human T-Cell Leukemia Virus Type 1 47 1.481
548
c BCT007 Bacterial Meningitis 55 1.479
549
ADR007 Adrenoleukodystrophy 73 1.479
550
P SLP006 Sleep Apnea 69 1.479
551
P MDL005 Medulloblastoma 75 1.479
552
ILS001 Ileus 50 1.479
553
P PYL005 Pyelonephritis 57 1.479
554
P ERL057 Early Infantile Epileptic Encephalopathy 60 1.474
555
MYL020 Myelomeningocele 51 1.474
556
URC002 Urea Cycle Disorder 51 1.474
557
P SMK004 Smoking As a Quantitative Trait Locus 3 44 1.469
558
TBC004 Tobacco Addiction 63 1.469
559
NRT001 Neurotic Disorder 56 1.469
560
MYL009 Myelodysplastic Syndrome 67 1.450
561
AND002 Androgen Insensitivity Syndrome 63 1.440
562
P RHM011 Rheumatoid Arthritis 82 1.440
563
c BTT014 Beta-Thalassemia 72 1.440
564
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.440
565
PRS131 Prostate Cancer/brain Cancer Susceptibility 23 1.440
566
ENT011 Enterocolitis 55 1.440
567
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 1.440
568
c HMP004 Hemophilia B 68 1.440
569
P SNS001 Sensorineural Hearing Loss 59 1.440
570
TLN003 Telangiectasis 51 1.440
571
DTR001 Detrusor Sphincter Dyssynergia 37 1.440
572
NWC001 Newcastle Disease 47 1.440
573
ATM095 Autoimmune Disease 61 1.432
574
INT323 Intraocular Pressure Quantitative Trait Locus 64 1.432
575
EPL131 Epilepsy, Pyridoxine-Dependent 45 1.430
576
P PLY014 Polycystic Kidney Disease 69 1.427
577
ACD003 Acid Sphingomyelinase Deficiency 32 1.426
578
BRK010 Burkitt Lymphoma 66 1.411
579
ACT078 Acute Porphyria 49 1.407
580
P CHR071 Charcot-Marie-Tooth Disease 64 1.403
581
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52 1.399
582
P PLY011 Polycystic Ovary Syndrome 57 1.399
583
P EPS003 Episodic Ataxia 59 1.399
584
P DST002 Distal Arthrogryposis 65 1.394
585
P PNM007 Pneumonia 67 1.393
586
CHL147 Chlamydia Pneumonia 47 1.387
587
P MLT020 Multiple Sclerosis 79 1.386
588
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 53 1.386
589
SPN250 Spondyloepimetaphyseal Dysplasia 36 1.386
590
PST053 Postherpetic Neuralgia 40 1.386
591
MTH074 Methionine Adenosyltransferase I/iii Deficiency 42 1.383
592
P RTN016 Retinal Degeneration 52 1.373
593
CHL004 Cholelithiasis 49 1.373
594
c PRC016 Pre-Eclampsia 65 1.373
595
P PRV006 Pervasive Developmental Disorder 52 1.358
596
PRS047 Prostatitis 58 1.358
597
P ESP024 Esophagitis 60 1.358
598
GST092 Gastroesophageal Reflux 61 1.357
599
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 61 1.357
600
c LKM063 Leukemia, Chronic Myeloid 71 1.357
601
GYR004 Gyrate Atrophy of Choroid and Retina 58 1.357
602
P MYP006 Myopia 56 1.357
603
AVN001 Avian Influenza 61 1.357
604
P RBL001 Rubella 58 1.357
605
PLM001 Pulmonary Tuberculosis 69 1.357
606
ART016 Aortic Aneurysm 68 1.357
607
CHG001 Chagas Disease 66 1.357
608
P MNN013 Meningitis 65 1.357
609
LWC001 Low Compliance Bladder 45 1.333
610
LYS002 Lysosomal Storage Disease 51 1.333
611
P PTS002 Ptosis 52 1.333
612
MLD018 Mild Cognitive Impairment 48 1.328
613
KPS004 Kaposi Sarcoma 77 1.328
614
SPN050 Spinocerebellar Degeneration 39 1.313
615
BRN032 Brain Glioma 45 1.313
616
P STN012 Sting-Associated Vasculopathy, Infantile-Onset 42 1.313
617
STN011 Sting-Associated Vasculopathy with Onset in Infancy 45 1.313
618
P RHB003 Rhabdomyosarcoma 66 1.313
619
DBT010 Diabetic Neuropathy 54 1.313
620
HGH001 High Pressure Neurological Syndrome 27 1.313
621
DSS009 Disseminated Intravascular Coagulation 57 1.313
622
P BNG032 Benign Mesothelioma 53 1.313
623
DSR002 Disorders of Intracellular Cobalamin Metabolism 29 1.313
624
MTH021 Methylmalonic Acidemia with Homocystinuria 44 1.313
625
ESP021 Esophageal Cancer 83 1.312
626
ADN018 Adenoma 59 1.312
627
MYM001 Myoma 54 1.312
628
P STR092 Striatal Degeneration, Autosomal Dominant 2 47 1.302
629
END040 Endogenous Depression 55 1.302
630
LNG031 Lung Benign Neoplasm 51 1.281
631
CHR178 Chromosomal Triplication 34 1.281
632
P DBT005 Diabetes Insipidus 54 1.281
633
P DNT011 Dentinogenesis Imperfecta 52 1.281
634
PRP083 Porphyria, Acute Intermittent 65 1.278
635
ANR004 Anuria 44 1.277
636
DBT007 Diabetic Cataract 36 1.277
637
c BLD140 Blood Group, I System 46 1.276
638
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 1.276
639
c ANM036 Anemia, Sideroblastic, 1 56 1.273
640
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64 1.273
641
c THY107 Thymoma, Familial 42 1.266
642
P ANP001 Anaplastic Large Cell Lymphoma 61 1.266
643
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 46 1.266
644
GLB001 Gilbert Syndrome 53 1.266
645
PRM329 Premature Aging 36 1.266
646
MCL003 Macular Holes 44 1.266
647
P NRC002 Narcolepsy 56 1.266
648
PTY002 Pityriasis Versicolor 38 1.266
649
HPT022 Hepatoblastoma 54 1.266
650
HGH041 High-Grade Astrocytoma 36 1.266
651
CMB007 Combined Immunodeficiency 57 1.266
652
BLR001 Biliary Atresia 55 1.266
653
P THY023 Thymoma 64 1.266
654
ORL011 Oral Cancer 60 1.266
655
P MTC069 Mitochondrial Disorders 57 1.266
656
SBC016 Subacute Delirium 43 1.266
657
AMN007 Aminoacylase 1 Deficiency 33 1.257
658
P SHR001 Short Bowel Syndrome 53 1.248
659
P INF032 Infertility 57 1.248
660
RNL114 Renal Cell Carcinoma, Nonpapillary 80 1.237
661
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.217
662
CYN003 Cyanide Poisoning 22 1.217
663
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 1.217
664
ANR007 Anorexia Nervosa 60 1.217
665
TND004 Tendinopathy 45 1.217
666
HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 27 1.217
667
P PRP003 Porphyria Cutanea Tarda 66 1.217
668
P KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 54 1.217
669
P MCR129 Microvascular Complications of Diabetes 1 68 1.217
670
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 65 1.217
671
P LPS004 Lupus Erythematosus 61 1.217
672
FLL031 Follicular Adenoma 40 1.217
673
AGR002 Agoraphobia 45 1.217
674
TRC123 Trichohepatoneurodevelopmental Syndrome 28 1.217
675
c MCR112 Microvascular Complications of Diabetes 2 42 1.217
676
TRN015 Transient Cerebral Ischemia 63 1.217
677
TRP004 Tropical Sprue 39 1.217
679
HYP706 Hypermobile Ehlers-Danlos Syndrome 55 1.217
680
P HDC001 Headache 57 1.217
681
CRD223 Cardiac Arrhythmia 63 1.216
682
CLF056 Cleft Lip with or Without Cleft Palate 42 1.216
683
NRT004 Neuritis 53 1.216
684
P CHL066 Cholangitis 52 1.215
685
P SYS005 Systemic Scleroderma 74 1.215
686
P HYP069 Hyperparathyroidism 62 1.215
687
TTH006 Tooth Disease 51 1.215
688
P SCK005 Sickle Cell Disease 56 1.215
689
MNT001 Mantle Cell Lymphoma 67 1.190
690
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 43 1.190
691
VRL011 Viral Infectious Disease 61 1.190
692
MYL001 Myelitis 50 1.190
693
P TRN020 Turner Syndrome 67 1.183
694
NWB001 Newborn Respiratory Distress Syndrome 56 1.183
695
HNT002 Hantavirus Pulmonary Syndrome 55 1.183
696
KRT002 Keratomalacia 55 1.183
697
P CRV039 Cervicitis 52 1.183
698
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.181
699
HMN047 Human Cytomegalovirus Infection 57 1.181
700
P VNW001 Von Willebrand's Disease 65 1.181
701
ACQ007 Acquired Immunodeficiency Syndrome 59 1.181
702
NRM005 Neuromuscular Disease 63 1.181
703
MSL001 Measles 61 1.181
704
RNL024 Renal Glucosuria 60 1.165
705
KNS001 Kniest Dysplasia 51 1.165
706
c EPS042 Episodic Ataxia, Type 1 58 1.165
707
P ATX030 Ataxia-Telangiectasia 80 1.165
708
P CLC063 Celiac Disease 1 66 1.165
709
PTN004 Patent Ductus Venosus 31 1.165
710
c PLM170 Pulmonary Venoocclusive Disease 1, Autosomal Dominant 43 1.165
712
RNL077 Renal Fibrosis 46 1.165
713
P LCH002 Lichen Planus 54 1.165
714
P PNC025 Panic Disorder 52 1.165
715
c BPL002 Bipolar I Disorder 47 1.165
716
MNN009 Meningoencephalitis 48 1.165
717
MCR013 Microphthalmia 60 1.165
718
EXN003 Exencephaly 30 1.165
719
ENT004 Enthesopathy 51 1.148
720
P CLL015 Collagen Disease 48 1.148
721
P MLT074 Multiple Endocrine Neoplasia 59 1.145
722
P PRC019 Precocious Puberty 47 1.145
723
c HYP519 Hyperekplexia 3 33 1.144
724
WST005 West Nile Virus 57 1.136
725
MYF001 Myofibroma 42 1.136
726
c BSL007 Basal Cell Carcinoma 68 1.136
727
ENC050 Encephalopathy, Neonatal Severe, with Lactic Acidosis and Brain Abnormalities 25 1.133
728
LPY002 Lipoyltransferase 1 Deficiency 25 1.133
729
CVD001 Covid-19 57 1.111
730
LPT006 Leptin Receptor Deficiency 50 1.111
731
ATX019 Ataxia with Vitamin E Deficiency 44 1.111
732
P BRS053 Breast Fibroadenoma 49 1.110
733
c CNG006 Congenital Hypothyroidism 63 1.109
734
P OPN001 Open-Angle Glaucoma 55 1.109
735
P ATR005 Atrophic Gastritis 50 1.109
736
P PRD021 Periodic Paralysis 41 1.109
737
P OPT006 Optic Nerve Disease 58 1.109
738
SPN187 Spinocerebellar Atrophy 23 1.109
739
ALP077 Alpha-Methylacetoacetic Aciduria 52 1.109
740
LNN001 Lennox-Gastaut Syndrome 61 1.109
741
DFF005 Diffuse Large B-Cell Lymphoma 54 1.109
742
CYN002 Cyanosis, Transient Neonatal 43 1.109
743
KRN002 Kearns-Sayre Syndrome 63 1.109
744
CHR103 Charge Syndrome 66 1.109
745
TMT002 Temtamy Preaxial Brachydactyly Syndrome 54 1.109
746
CLB010 Coloboma of Macula 53 1.109
747
ACT003 Acute Kidney Tubular Necrosis 46 1.109
748
PRS042 Prostate Disease 42 1.109
749
P VSC011 Vasculitis 61 1.109
750
END041 Endometrial Adenocarcinoma 64 1.109
751
P HYP035 Hypophosphatasia 62 1.109
752
P EYD002 Eye Disease 57 1.109
753
c ACT135 Acute Graft Versus Host Disease 51 1.109
754
P ADT009 Auditory Neuropathy Spectrum Disorder 34 1.109
755
PRN029 Parainfluenza Virus Type 3 32 1.109
756
CYS019 Cystathioninuria 46 1.085
757
P ANR048 Aniridia 1 64 1.080
758
FBR047 Fibromyalgia 58 1.080
759
ANR040 Aneurysm 61 1.080
760
IMM162 Immunoglobulin E Concentration, Serum 28 1.072
761
MLC004 Mulchandani-Bhoj-Conlin Syndrome 51 1.072
762
P PLY018 Polycythemia 56 1.072
763
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 1.071
764
CRT072 Creutzfeldt-Jakob Disease 68 1.071
765
THR024 Thrombosis 56 1.071
766
TRT001 Teratocarcinoma 42 1.071
767
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 1.071
768
ARG002 Argininosuccinic Aciduria 61 1.067
769
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 1.067
770
c TYR012 Tyrosinemia, Type I 61 1.067
771
P STR020 Strabismus 56 1.067
772
SQM013 Squamous Cell Carcinoma, Head and Neck 73 1.047
773
P PLZ001 Pelizaeus-Merzbacher Disease 65 1.047
774
HYP052 Hyperkalemic Periodic Paralysis 63 1.047
775
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 63 1.047
776
CHN065 Choanal Atresia, Posterior 48 1.047
777
LMB062 Limb Ischemia 55 1.047
778
UMB002 Umbilical Hernia 47 1.047
779
THR118 Threoninemia 15 1.047
780
TRG002 Trigeminal Neuralgia 61 1.047
781
RHM034 Rahman Syndrome 37 1.047
782
P PLY041 Polymyositis 59 1.047
783
P HYP083 Hypopituitarism 52 1.047
784
c ACT042 Acute Pyelonephritis 45 1.047
785
MLG079 Malignant Pleural Mesothelioma 42 1.047
786
P MMB011 Membranous Nephropathy 50 1.047
787
ACR007 Acromegaly 70 1.047
788
VST003 Vestibular Nystagmus 25 1.047
789
CRN027 Corneal Neovascularization 47 1.047
790
GLC009 Glucosephosphate Dehydrogenase Deficiency 53 1.047
791
P END044 Endometriosis 62 1.047
792
ASP004 Asphyxia Neonatorum 50 1.047
793
GLM004 Gliomatosis Cerebri 52 1.047
794
P PSD003 Pseudohypoaldosteronism 44 1.047
795
ALC005 Alcoholic Pancreatitis 38 1.047
796
BRN002 Bronchiolitis 57 1.047
797
P OVR049 Ovarian Disease 52 1.047
798
CRB037 Cerebral Palsy 67 1.047
799
OPS006 Opsoclonus-Myoclonus Syndrome 48 1.047
800
WLL004 Wallerian Degeneration 38 1.047
801
CRL001 Cerulean Cataract 26 1.047
802
ORN004 Ornithinemia 13 1.047
803
PRM243 Primary Bone Cancer 22 1.047
804
PRN019 Perinatal Necrotizing Enterocolitis 60 1.047
805
ANT039 Antisynthetase Syndrome 55 1.036
806
XRD010 Xeroderma Pigmentosum, Variant Type 73 1.032
808
c GLC092 Glaucoma, Primary Open Angle 62 1.032
809
P SCL009 Sclerosing Cholangitis 48 1.032
810
AMN001 Amenorrhea 54 1.032
811
CYS043 Cysteine Peptiduria 7 1.030
812
THY122 Thyroid Gland Cancer 59 1.019
813
THY030 Thyroid Gland Disease 50 1.019
814
IGR001 Ige Responsiveness, Atopic 59 0.992
815
c CHL119 Cholangitis, Primary Sclerosing 58 0.992
816
P PRN026 Porencephaly 55 0.992
817
DNT012 Dental Caries 53 0.992
818
P INT099 Intrahepatic Cholestasis of Pregnancy 62 0.992
819
PLG002 Plague 58 0.992
820
CNG069 Congenital Cytomegalovirus 51 0.992
821
c PRG106 Progressive Muscular Dystrophy 32 0.991
822
ALK024 Alkuraya-Kucinskas Syndrome 45 0.989
823
c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 35 0.981
824
NRM001 Neuromyelitis Optica 61 0.981
825
ALL010 Allergic Contact Dermatitis 56 0.981
826
P OPT009 Optic Neuritis 57 0.981
827
MGL001 Megaloblastic Anemia 58 0.981
828
CNT047 Contact Dermatitis 57 0.981
829
GNG003 Gingival Recession 49 0.981
830
MST020 Mast Cell Activation Syndrome 28 0.981
831
CRC014 Carcinoid Tumors, Intestinal 46 0.980
832
ACN002 Acanthosis Nigricans 56 0.980
833
OTT002 Otitis Media 71 0.980
834
HYP017 Hypophosphatemia 49 0.980
835
c PRM093 Premature Ovarian Failure 7 48 0.980
836
c ATM101 Autoimmune Gastritis 40 0.980
837
FCT003 Factor X Deficiency 54 0.980
838
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.980
839
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 38 0.980
840
SCH038 Schopf-Schulz-Passarge Syndrome 51 0.980
841
SCH011 Schizotypal Personality Disorder 36 0.980
842
P PMP001 Pemphigus 55 0.980
843
MNG007 Manganese Poisoning 28 0.980
844
P CRV031 Cervical Adenocarcinoma 48 0.980
845
P SYP003 Syphilis 59 0.980
846
TCK004 Tick Infestation 30 0.980
847
P PLL002 Pellagra 46 0.980
848
P GLL022 Guillain-Barre Syndrome 60 0.980
849
RFL002 Reflex Epilepsy 41 0.980
850
P INT143 Interstitial Cystitis 60 0.980
851
BCT004 Bacteriuria 47 0.980
852
P OVR046 Ovarian Cyst 46 0.980
853
P BNG013 Benign Breast Phyllodes Tumor 35 0.980
854
P MYT002 Myotonic Dystrophy 51 0.980
855
P MYC008 Myocarditis 59 0.980
856
HRP004 Herpes Zoster 61 0.980
857
PRR013 Prurigo Nodularis 37 0.980
858
DNG003 Dengue Disease 65 0.977
859
BTN003 Biotinidase Deficiency 62 0.976
860
c SCH085 Schizophrenia 2 27 0.976
861
MTH011 Methionine Adenosyltransferase Deficiency 18 0.976
862
LPC004 Lipoic Acid Biosynthesis Defects 10 0.976
863
OST062 Osteoarthritis with Mild Chondrodysplasia 47 0.956
864
c PNS012 Paine Syndrome 60 0.951
865
c NMN013 Niemann-Pick Disease, Type a 63 0.951
866
PLS011 Plasmacytoma 56 0.951
867
TRN018 Transitional Cell Carcinoma 56 0.951
868
NRN004 Neuroendocrine Tumor 59 0.951
869
c PLM164 Pulmonary Hypertension, Primary, 1 76 0.950
870
P FML011 Familial Adenomatous Polyposis 71 0.950
871
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 60 0.950
872
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.950
873
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 0.950
874
PMP014 Pemphigoid 51 0.950
875
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.950
876
CRC021 Carcinosarcoma 64 0.950
877
P SKN015 Skin Carcinoma 71 0.950
878
BLL006 Bullous Pemphigoid 61 0.950
879
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 0.950
880
SNS003 Sensory Peripheral Neuropathy 52 0.950
881
P CRN037 Craniosynostosis 68 0.950
882
P RHN004 Rhinitis 57 0.950
883
CHR028 Chronic Wasting Disease 33 0.950
884
P NLX004 Neu-Laxova Syndrome 1 55 0.919
885
c SCL052 Scleroderma, Familial Progressive 61 0.906
886
c ALP101 Alpha-Thalassemia 62 0.906
887
P KLZ004 Kala-Azar 1 41 0.906
888
P SPP010 Suppressor of Tumorigenicity 3 51 0.906
889
P SRC025 Sarcoidosis 1 71 0.906
891
EXT007 Extracutaneous Mastocytoma 38 0.906
892
LSH001 Leishmaniasis 64 0.906
893
CHC001 Chickenpox 57 0.906
894
MST004 Mast Cell Neoplasm 42 0.906
895
PNC129 Pancreatic Adenocarcinoma 65 0.906
896
P GRV001 Graves' Disease 55 0.906
897
DYS015 Dysentery 50 0.906
898
c HPT007 Hepatitis E 51 0.906
899
TST018 Testicular Yolk Sac Tumor 39 0.906
900
EXC002 Exocrine Pancreatic Insufficiency 42 0.906
901
P END039 Endodermal Sinus Tumor 41 0.906
902
c RNG015 Ring Chromosome 2 22 0.906
903
c HMC039 Hemochromatosis, Type 1 73 0.903
904
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 0.903
905
STN013 Stenotrophomonas Maltophilia Infection 26 0.903
906
c PLN017 Peeling Skin Syndrome 1 39 0.903
907
ANN002 Anencephaly 57 0.903
908
HYD038 Hydrops Fetalis, Nonimmune 59 0.903
909
c SLV030 Silver-Russell Syndrome 4 19 0.903
910
P RST001 Restless Legs Syndrome 52 0.903
911
P OMP004 Omphalocele 48 0.903
912
P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 59 0.903
913
LYS012 Lysosomal Acid Lipase Deficiency 65 0.903
914
P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 57 0.903
915
CLC008 Colchicine Resistance 33 0.903
916
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 0.903
917
EPD072 Epidermolysis Bullosa Dystrophica, Pretibial 32 0.903
918
P NRD007 Neurodegeneration with Brain Iron Accumulation 52 0.903
919
c CRN111 Cranioectodermal Dysplasia 4 31 0.903
920
P EPD003 Epidermolysis Bullosa Simplex 57 0.903
921
SRP007 Serpinopathy 9 0.903
922
SCB001 Scabies 50 0.903
923
c ERY062 Erythrokeratodermia Variabilis Et Progressiva 5 24 0.903
924
CRN017 Coronary Thrombosis 46 0.903
925
BRN012 Bronchiolitis Obliterans 56 0.903
926
CCC002 Coccidiosis 50 0.903
927
ANP005 Anaplastic Astrocytoma 57 0.903
928
c GM2006 Gm2 Gangliosidosis 46 0.903
929
NRL005 Neurilemmoma 60 0.903
930
TYP007 Typhoid Fever 64 0.903
931
PPT001 Peptic Esophagitis 52 0.903
932
P INS002 in Situ Carcinoma 53 0.903
933
IQS001 Iqsec2 18 0.903
934
c RNG019 Ring Chromosome 3 19 0.903
935
P DYS021 Dysautonomia 38 0.903
936
P MRC003 Mercury Poisoning 49 0.903
937
P GNG009 Gangliosidosis 44 0.903
938
GGN002 Gigantism 33 0.903
939
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 63 0.897
940
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 0.897
941
VTM028 Vitamin E, Familial Isolated Deficiency of 53 0.897
942
EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 30 0.897
943
GLS018 Glass Syndrome 61 0.897
944
c VRL005 Viral Pneumonia 53 0.897
945
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26 0.897
946
RFR010 Refractory Anemia 49 0.874
947
P LKM071 Leukemia, Chronic Lymphocytic 75 0.874
948
PPL022 Papilloma 53 0.874
949
P LRY044 Larynx Cancer 54 0.874