Search results for 4

4224 hits were found for 4

# Family MCID Name MIFTS Score
1
c GLY007 Glycogen Storage Disease Iv 54 4.052
2
c LPD035 Lipodystrophy, Congenital Generalized, Type 4 34 3.119
3
c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 35 2.921
4
c ORF035 Orofaciodigital Syndrome Iv 26 2.701
5
MDY006 Mody, Type Iv 33 2.603
6
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 45 2.592
7
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 38 2.587
8
c PRK030 Parkinson Disease 4 41 2.477
9
c PNT013 Pontocerebellar Hypoplasia Type 4 30 2.477
10
c SPS091 Spastic Paraplegia 4 23 2.477
11
c NPH032 Nephronophthisis 4 36 2.475
12
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42 2.472
13
IMM131 Immunodeficiency with Hyper-Igm, Type 4 40 2.464
14
c ALZ035 Alzheimer Disease-4 39 2.461
15
c HMC035 Hemochromatosis, Type 4 38 2.359
16
c LBR014 Leber Congenital Amaurosis 4 44 2.349
17
c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 41 2.344
18
c HRM007 Hermansky-Pudlak Syndrome 4 34 2.344
19
c SPN105 Spinocerebellar Ataxia 4 33 2.344
20
c EPP014 Epiphyseal Dysplasia, Multiple, 4 27 2.344
21
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 44 2.341
22
c RTN092 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 31 2.341
23
BLC009 Bile Acid Synthesis Defect, Congenital, 4 29 2.341
24
c CTR103 Cataract 4, Multiple Types 33 2.214
25
c ATR031 Atrial Septal Defect 4 35 2.211
26
c LPD034 Lipodystrophy, Familial Partial, Type 4 26 2.211
27
c SPS208 Spastic Ataxia 4, Autosomal Recessive 25 2.211
28
c SPL034 Split-Hand/foot Malformation 4 41 2.208
29
c CRD203 Cardiomyopathy, Hypertrophic, 4 40 2.208
30
c WRB005 Warburg Micro Syndrome 4 36 2.208
31
c LKD008 Leukodystrophy, Hypomyelinating, 4 36 2.208
32
c SPN318 Spinal Muscular Atrophy-4 36 2.208
33
c PRG021 Paragangliomas 4 35 2.208
34
DRR005 Diarrhea 4, Malabsorptive, Congenital 33 2.208
35
c SPH016 Spherocytosis, Type 4 31 2.208
36
c LSS010 Lissencephaly 4 29 2.208
37
c CHL083 Cholestasis, Progressive Familial Intrahepatic 4 27 2.208
38
c OST137 Osteopetrosis, Autosomal Recessive 4 24 2.208
39
c BRG004 Brugada Syndrome 4 23 2.208
40
c MCR109 Microphthalmia, Isolated 4 22 2.208
41
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 22 2.208
42
c LTH026 Lethal Congenital Contracture Syndrome 4 20 2.208
43
P TTH013 Tooth Agenesis, Selective, 4 19 2.208
44
CWC001 Cowchock Syndrome 37 2.202
45
c MCL038 Macular Degeneration, Age-Related, 4 26 2.106
46
c THR048 Thrombocytopenia 4 29 2.086
47
c BRD016 Bardet-Biedl Syndrome 4 44 2.073
48
c SPR089 Spermatogenic Failure 4 25 2.070
49
c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 25 2.070
50
LYS017 Loeys-Dietz Syndrome 4 38 2.067
51
c ACR091 Aicardi-Goutieres Syndrome 4 35 2.067
52
c ACH023 Achromatopsia 4 33 2.067
53
c NNN011 Noonan Syndrome 4 33 2.067
54
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 30 2.067
55
P ART028 Aortic Aneurysm, Familial Thoracic 4 29 2.067
56
EPL108 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 26 2.067
57
c HYP302 Hypomagnesemia 4, Renal 25 2.067
58
c CRN111 Cranioectodermal Dysplasia 4 25 2.067
59
EPL071 Epilepsy, Nocturnal Frontal Lobe, Type 4 23 2.067
60
RTN036 Retinal Cone Dystrophy 4 23 2.067
61
c FBR069 Febrile Seizures, Familial, 4 22 2.067
62
c MYP098 Myopathy, Centronuclear, 4 21 2.067
63
CMB015 Combined Oxidative Phosphorylation Deficiency 4 20 2.067
64
c TRM017 Tremor, Hereditary Essential, 4 18 2.067
65
c SPS214 Spastic Ataxia 4 13 2.067
66
CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 24 2.064
67
c MCR262 Microphthalmia, Syndromic 4 22 2.064
68
c CLR067 Ciliary Dyskinesia, Primary, 4 19 2.064
69
c FBR080 Fibromatosis, Gingival, 4 13 2.064
70
c EHL057 Ehlers-Danlos Syndrome, Type Iv 59 2.060
71
c MLT086 Multiple Endocrine Neoplasia, Type Iv 50 2.060
72
c SCH051 Schizophrenia 4 36 1.940
73
c PLM121 Pulmonary Hypertension, Primary, 4 29 1.921
74
HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 22 1.921
75
c HLP029 Holoprosencephaly 4 40 1.918
76
c NML017 Nemaline Myopathy 4, Autosomal Dominant 30 1.918
77
c JBR018 Joubert Syndrome 4 29 1.918
78
c MCR254 Microcephaly 4, Primary, Autosomal Recessive 27 1.918
79
c DYS163 Dystonia 4, Torsion, Autosomal Dominant 26 1.918
80
P MYP095 Myopathy, Distal, 4 24 1.918
81
c STR054 Stargardt Disease 4 23 1.918
82
c SNR004 Senior-Loken Syndrome 4 22 1.918
83
PTT044 Pituitary Hormone Deficiency, Combined, 4 30 1.915
84
BLC008 Bile Acid Synthesis Defect, Congenital, 2 29 1.915
85
c SCK010 Seckel Syndrome 4 29 1.915
86
c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 27 1.915
87
c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 27 1.915
88
c AGM007 Agammaglobulinemia 4 26 1.915
89
P CRB100 Cerebrooculofacioskeletal Syndrome 4 25 1.915
90
c PLY121 Polydactyly, Preaxial, Type Iv 24 1.915
91
c THY063 Thyroid Dyshormonogenesis 4 23 1.915
92
c MRG011 Meier-Gorlin Syndrome 4 22 1.915
93
c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 22 1.915
94
c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 21 1.915
95
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 21 1.915
96
MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 20 1.915
97
c BRS098 Breast-Ovarian Cancer, Familial 4 20 1.915
98
c ERY032 Erythrocytosis, Familial, 4 16 1.915
99
ARR033 Arrhythmogenic Right Ventricular Dysplasia 4 15 1.915
100
NRP015 Neuropathy, Congenital Hypomyelinating 45 1.912
101
c OST121 Osteogenesis Imperfecta, Type Iv 48 1.908
102
c CTR113 Cataract 11, Multiple Types 32 1.908
103
RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 45 1.904
104
c INF087 Inflammatory Bowel Disease 4 41 1.778
105
c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 27 1.778
106
c CLC037 Celiac Disease 4 21 1.760
107
CND012 Cone Dystrophy 4 26 1.757
108
c DMN019 Diamond-Blackfan Anemia 4 29 1.753
109
c CRN215 Cornelia De Lange Syndrome 4 27 1.753
110
c CWD005 Cowden Syndrome 4 23 1.753
111
c FML270 Familial Cold Autoinflammatory Syndrome 4 22 1.753
112
c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22 1.753
113
c BSL032 Basal Ganglia Calcification, Idiopathic, 4 19 1.753
114
c NTR039 Neutropenia, Severe Congenital 4, Autosomal Recessive 32 1.750
115
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 30 1.750
116
c HYP576 Hypotrichosis 4 30 1.750
117
c HTR010 Heterotaxy, Visceral, 4, Autosomal 28 1.750
118
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28 1.750
119
c MYP080 Myopathy, Myofibrillar, 4 27 1.750
120
c THM014 Thiamine Metabolism Dysfunction Syndrome 4 27 1.750
121
c MCK017 Meckel Syndrome 4 27 1.750
122
c CLR039 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 27 1.750
123
FGS004 Fg Syndrome 4 27 1.750
124
c EXD004 Exudative Vitreoretinopathy 4 26 1.750
125
c ADM009 Adams-Oliver Syndrome 4 25 1.750
126
c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 25 1.750
127
c GLL027 Gallbladder Disease 4 23 1.750
128
c ATR039 Atrial Fibrillation, Familial, 4 23 1.750
129
c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 23 1.750
130
GLC090 Glucocorticoid Deficiency 4, with or Without Mineralocorticoid Deficiency 23 1.750
131
c MCL061 Macular Dystrophy, Vitelliform, 4 22 1.750
132
c ATX033 Ataxia-Oculomotor Apraxia 4 22 1.750
133
c CND028 Candidiasis, Familial, 4, Autosomal Recessive 22 1.750
134
c DFN147 Deafness, X-Linked 4 22 1.750
135
c ATR067 Atrioventricular Septal Defect 4 21 1.750
136
c PRR021 Perrault Syndrome 4 20 1.750
137
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 19 1.750
138
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 18 1.750
139
c FCL046 Focal Facial Dermal Dysplasia 4 17 1.750
140
c NNP012 Nanophthalmos 4 16 1.750
141
c DWL004 Dowling-Degos Disease 4 16 1.750
142
c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25 1.746
143
c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 23 1.746
144
STX004 Stxbp1 Encephalopathy with Epilepsy 20 1.746
145
c ATM066 Autoimmune Polyendocrinopathy Type 4 17 1.746
146
EPL113 Epilepsy, Familial Temporal Lobe, 4 17 1.746
147
c MLG093 Malignant Hyperthermia Susceptibility Type 4 9 1.746
148
c ALB019 Albinism, Oculocutaneous, Type Iv 33 1.742
149
c EPL094 Epilepsy, Juvenile Myoclonic 5 21 1.742
150
c DFN267 Deafness, Autosomal Dominant 4a 21 1.742
151
MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 19 1.742
152
c CTR111 Cataract 36 25 1.738
153
c RNG020 Ring Chromosome 4 29 1.634
154
c PNC103 Pancreatic Cancer 4 31 1.587
155
c PCH011 Pachyonychia Congenita 4 24 1.584
156
c PRC034 Preeclampsia/eclampsia 4 25 1.578
157
c MCR133 Microvascular Complications of Diabetes 4 27 1.571
158
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38 1.568
159
c CRN221 Craniosynostosis 4 31 1.568
160
c GLM033 Glomerulosclerosis, Focal Segmental, 4 29 1.568
161
P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 29 1.568
162
c HML032 Hemolytic Uremic Syndrome, Atypical 4 28 1.568
163
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 27 1.568
164
c EPS037 Episodic Ataxia, Type 4 26 1.568
165
c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 26 1.568
166
c NPH047 Nephrotic Syndrome, Type 4 25 1.568
167
c CRD167 Cardiofaciocutaneous Syndrome 4 24 1.568
168
c HRS029 Hirschsprung Disease 4 22 1.568
169
IMM035 Immunodeficiency, Common Variable, 4 22 1.568
170
CRD192 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 22 1.568
171
PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 19 1.568
172
c CNG404 Congenital Heart Defects, Multiple Types, 4 19 1.568
173
PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 18 1.568
174
FNC051 Fanconi Renotubular Syndrome 4, with Maturity-Onset Diabetes of the Young 17 1.568
175
c SPN363 Spinocerebellar Ataxia, X-Linked 4 16 1.568
176
IMM147 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 15 1.568
177
c INF157 Infection-Induced Acute Encephalopathy 4, Susceptibility 8 1.568
178
P RFS001 Refsum Disease 61 1.564
179
c CTR141 Cataract 21, Multiple Types 38 1.564
180
PGT006 Paget Disease of Bone 4 18 1.564
181
RST015 Restless Legs Syndrome 4 17 1.564
182
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 16 1.564
183
c CNG405 Congenital Pulmonary Airway Malformation Type 4 11 1.564
184
GRY002 Gray Platelet Syndrome 53 1.559
185
c BRT035 Bartter Syndrome, Type 4a 36 1.559
186
c AML020 Amelogenesis Imperfecta, Type Iv 34 1.559
187
c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 30 1.559
188
c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 28 1.559
189
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 34 1.555
190
c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33 1.555
191
c CRD107 Cardiomyopathy, Dilated, 1r 28 1.555
192
PND003 Pendred Syndrome/dfnb4 10 1.555
193
P MCL013 Mucolipidosis Iv 64 1.401
194
c ATP017 Atopic Dermatitis 4 17 1.375
195
BRC074 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 25 1.368
196
c OVR107 Ovarian Dysgenesis 4 25 1.365
197
ENC036 Encephalopathy, Acute, Infection-Induced, 4 24 1.365
198
c FML339 Familial Adenomatous Polyposis 4 23 1.365
199
KLP011 Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 22 1.365
200
c MJR004 Major Affective Disorder 4 26 1.361
201
P ATS268 Autism X-Linked 4 25 1.361
202
c BRT024 Bartter Syndrome Type 4 18 1.361
203
c THY100 Thyroid Cancer, Nonmedullary, 4 17 1.361
204
c ANM034 Anemia, Sideroblastic, 4 16 1.361
205
c KLL006 Kallmann Syndrome 4 15 1.361
206
c HYP718 Hyperuricemic Nephropathy, Familial Juvenile, 4 15 1.361
207
46X045 46, Xx Sex Reversal 4 15 1.361
208
c CTR146 Cataract, Autosomal Dominant Congenital 4 11 1.361
209
c DST026 Distal Spinal Muscular Atrophy 4 9 1.361
210
c PRM180 Primary Familial Brain Calcification 4 8 1.361
211
c SPN124 Spondylocostal Dysostosis 4 8 1.361
212
c HYP715 Hypothyroidism, Congenital, Nongoitrous 4 39 1.356
213
P OVR076 Ovarian Dysgenesis 2 33 1.356
214
CRD169 Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 27 1.356
215
c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 24 1.356
216
c NRC012 Narcolepsy 4 19 1.356
217
CMP040 Complement Component 4, Partial Deficiency of 18 1.356
218
c LPR016 Leprosy 4 15 1.356
219
c KRT041 Keratoconus 4 14 1.356
220
c OTS008 Otosclerosis 4 13 1.356
221
c GLM019 Glioma Susceptibility 4 13 1.356
222
c VSC040 Vesicoureteral Reflux 4 12 1.356
223
GTS002 Gout Susceptibility 4 12 1.356
224
c LNG065 Lung Cancer Susceptibility 4 11 1.356
225
c ORF023 Orofacial Cleft 4 11 1.356
226
c SPC015 Specific Language Impairment 4 10 1.356
227
PRK054 Prok2-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 1.356
228
c SPN296 Spinocerebellar Ataxia 17 47 1.352
229
c SYN061 Syndactyly, Type Iv 38 1.352
230
ANN001 Anonychia Congenita 32 1.352
231
c CRD155 Cardiomyopathy, Dilated, 1kk 28 1.352
232
c DYS168 Dyserythropoietic Anemia, Congenital, Type Iv 25 1.352
233
CHR248 Chromosome 4p Duplication 19 1.352
234
c SLC023 Slc4a1-Related Spherocytosis 14 1.352
235
c TPM004 Tpm2-Related Nemaline Myopathy 10 1.352
236
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 9 1.352
237
TNF007 Tnfrsf13c-Related Common Variable Immune Deficiency 9 1.352
238
P NRF018 Neurofibromatosis, Type 1 78 1.346
239
IRK001 Irak4 Deficiency 44 1.346
240
TKL001 Tukel Syndrome 34 1.346
241
SHR098 Short-Rib Thoracic Dysplasia 12 27 1.346
242
OVL005 Ovalocytosis, Sa Type 24 1.346
243
ACR108 Acrocephalopolysyndactyly Type Iv 19 1.346
244
GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 16 1.346
245
ATM055 Autoimmune Disease 4 18 1.215
246
c CRN175 Coronary Heart Disease 4 20 1.194
247
c WRD010 Waardenburg Syndrome Type 4 28 1.148
248
c HYP720 Hyperparathyroidism 4 23 1.143
249
c BSL027 Basal Cell Carcinoma 4 16 1.143
250
c PLN024 Peeling Skin Syndrome 4 32 1.140
251
c SYS051 Systemic Lupus Erythematosus 4 22 1.140
252
c MLT095 Multiple Sclerosis 4 18 1.134
253
c HYP595 Hypertension, Essential 66 1.131
254
c OPT059 Optic Atrophy 4 17 1.124
255
c DYS137 Dystonia 4 20 1.120
256
c NRB011 Neuroblastoma 4 19 1.120
257
c BLR025 Biliary Cirrhosis, Primary, 4 13 1.120
258
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51 1.116
259
P ANT071 Anterior Segment Dysgenesis 4 33 1.116
260
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 29 1.116
261
c CFF009 Coffin-Siris Syndrome 4 24 1.116
262
c ART131 Arthrogryposis, Distal, Type 4 18 1.116
263
CNR015 Cone-Rod Dystrophy 4 13 1.116
264
P PNC112 Pancreatic Cancer Susceptibility 4 11 1.116
265
c KLP015 Klippel-Feil Syndrome 4 9 1.116
266
ARR007 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 4 6 1.116
267
c MCP004 Mucopolysaccharidosis Iv 60 1.111
268
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 35 1.111
269
MGR023 Migraine Without Aura 4 19 1.111
270
SYN037 Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses 18 1.111
271
c ATM058 Autoimmune Thyroid Disease 4 14 1.111
272
c MTR062 Maternal Uniparental Disomy of Chromosome 4 14 1.111
273
c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 12 1.111
274
P HYP653 Hypospadias 4, X-Linked 10 1.111
275
c ANR022 Aneurysm, Intracranial Berry, 4 10 1.111
276
c HS7001 Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive 10 1.111
277
c ART108 Aortic Aneurysm, Familial Abdominal, 4 9 1.111
278
P LRY049 Laryngotracheoesophageal Cleft Type 4 8 1.111
279
c SZR011 Seizures, Benign Familial Infantile, 4 8 1.111
280
c AST034 Asthma-Related Traits 4 8 1.111
281
c PYL010 Pyloric Stenosis, Infantile Hypertrophic, 4 8 1.111
282
c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 7 1.111
283
c STT039 Stuttering, Familial Persistent, 4 6 1.111
284
c ATS043 Autism Susceptibility, X-Linked 4 5 1.111
285
P MLT007 Multiple Epiphyseal Dysplasia 52 1.106
286
MTC097 Mitochondrial Complex Iv Deficiency 51 1.106
287
c FNC042 Fanconi Anemia, Complementation Group D2 48 1.106
288
P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 42 1.106
289
CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 42 1.106
290
BLC007 Bile Acid Synthesis Defect, Congenital, 1 34 1.106
291
JBR007 Joubert Syndrome with Renal Anomalies 31 1.106
292
c STC012 Stickler Syndrome, Type Iv 26 1.106
293
c CHR609 Charcot-Marie-Tooth Disease, Type 4k 25 1.106
294
HRP029 Herpes Simplex Encephalitic 6 15 1.106
295
c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12 1.106
296
c STX001 Setx-Related Amyotrophic Lateral Sclerosis 11 1.106
297
c NPH040 Nphp1-Related Joubert Syndrome 10 1.106
298
c SLC015 Slc40a1-Related Hereditary Hemochromatosis 9 1.106
299
c SYN034 Syne1-Related Emery-Dreifuss Muscular Dystrophy 9 1.106
300
c TGF005 Tgif1-Related Holoprosencephaly 9 1.106
301
c RD2001 Rad21-Related Cornelia De Lange Syndrome 8 1.106
302
c CSF002 Csf2ra-Related Pulmonary Surfactant Metabolism Dysfunction 8 1.106
303
c ACV001 Acvr2b-Related Visceral Heterotaxy 8 1.106
304
c SS1001 Sos1-Related Noonan Syndrome 8 1.106
305
c RPS004 Rps17-Related Diamond-Blackfan Anemia 8 1.106
306
c ERF001 Erf-Related Craniosynostosis 8 1.106
307
c MYH005 Myh11-Related Thoracic Aortic Aneurysms and Aortic Dissections 7 1.106
308
HTR015 Heterotopia, Periventricular 46 1.099
309
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 39 1.099
310
WCK001 Wieacker-Wolff Syndrome 36 1.099
311
c CTR134 Cataract 23 28 1.099
312
c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 24 1.099
313
MTC100 Metacarpal 4-5 Fusion 19 1.099
314
c MYP115 Mypn-Related Familial Restrictive Cardiomyopathy 8 1.099
315
CHR325 Chrna2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant 4 1.099
316
P PRS040 Prostate Cancer 88 0.980
317
P OBS005 Obesity 91 0.976
318
WLF002 Wolf-Hirschhorn Syndrome 50 0.870
319
c RNL034 Renal Cell Carcinoma 4 22 0.820
320
MSC087 Mosaic Trisomy 4 5 0.802
321
ICH020 Ichthyosis Prematurity Syndrome 38 0.797
322
c PRX057 Peroxisome Biogenesis Disorder 4a 26 0.797
323
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 18 0.797
324
c TRS027 Torsion Dystonia 4 13 0.797
325
c BRC101 Brachyolmia 4 8 0.797
326
PLY142 Polycystic Kidney Disease 4, with or Without Hepatic Disease 54 0.792
327
c HRD186 Hereditary Spastic Paraplegia 51 24 0.792
328
c ERY056 Erythrokeratodermia Variabilis Et Progressiva 4 12 0.792
329
c ZYG005 Zygodactyly Type 4 9 0.792
330
c RNL049 Renal Tubular Acidosis, Distal, Type 4 7 0.792
331
c CHR162 Chiari Malformation Type 4 6 0.792
332
c FML112 Familial Cerebral Cavernous Malformation 4 6 0.792
333
HRD119 Hereditary Inclusion Body Myopathy Type 4 6 0.792
334
DFN043 Dfna 4 Nonsyndromic Hearing Loss and Deafness 4 0.792
335
c PTT028 Potter Syndrome Type 4 3 0.792
336
c JBR020 Joubert Syndrome 1 61 0.786
337
SVR066 Severe Combined Immunodeficiency, X-Linked 57 0.786
338
LG4001 Lig4 Syndrome 54 0.786
339
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47 0.786
340
c SPN330 Spondylocostal Dysostosis 5 40 0.786
341
MLS013 Miles-Carpenter Syndrome 31 0.786
342
EPM005 Epimerase Deficiency Galactosemia 28 0.786
343
CNG002 Congenital Bile Acid Synthesis Defect 25 0.786
344
CHR247 Chromosome 4p Deletion 18 0.786
345
c HYP708 Hyperaldosteronism, Familial, Type Iv 18 0.786
346
TGF006 Tgfb2-Related Loeys-Dietz Syndrome 17 0.786
347
GST087 Gastric Linitis Plastica 16 0.786
348
c BBS006 Bbs4-Related Bardet-Biedl Syndrome 13 0.786
349
c CLM002 Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia 10 0.786
350
DFN220 Dfnx4 Nonsyndromic Hearing Loss and Deafness 6 0.786
351
LHX002 Lhx4-Related Combined Pituitary Hormone Deficiency 6 0.786
352
CHR250 Chromosome 4q Duplication 6 0.786
353
CQ8001 Coq8a-Related Coenzyme Q10 Deficiency 6 0.786
354
c SPN294 Spinocerebellar Ataxia 1 56 0.777
355
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 42 0.777
356
c HYP032 Hyperlipoproteinemia Type Iv 33 0.777
357
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 29 0.777
358
c SYN060 Syndactyly, Type Iii 27 0.777
359
c ALB017 Albinism, Oculocutaneous, Type Vi 26 0.777
360
CHR399 Chromosome 4q21 Deletion Syndrome 24 0.777
361
c DYS121 Dyslexia 1 23 0.777
362
c MTH036 Methemoglobinemia, Type Iv 22 0.777
363
P FML153 Familial Wilms Tumor 18 0.777
364
c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 17 0.777
365
FCL047 Facial Clefting, Oblique, 1 16 0.777
366
GBM001 Gaba Aminotransferase Deficiency 16 0.777
367
HYD031 Hydroxyprolinemia 14 0.777
368
SPN171 Spinocerebellar Ataxia Type17 11 0.777
369
c MYP109 Mypn-Related Cardiomyopathy 11 0.777
370
OBS043 Obesity Bmiq4 11 0.777
371
c RTL001 Rtel1-Related Dyskeratosis Congenita 9 0.777
372
c ABC020 Abcc4-Related Altered Drug Metabolism 8 0.777
373
c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 8 0.777
374
BST005 Bustos Simosa Pinto Cisternas Syndrome 8 0.777
375
c KCN002 Kcne2-Related Familial Atrial Fibrillation 7 0.777
376
c CNG150 Congenital Hypothyroidism, Iyd-Related 7 0.777
377
PLY094 Polysyndactyly, Bilateral 6 0.777
378
PLY095 Polysyndactyly, Unilateral 6 0.777
379
PFF002 Pfeiffer Kapferer Syndrome 5 0.777
380
P HPT021 Hepatitis 68 0.168
381
END072 Endotheliitis 41 0.157
382
P LKM002 Leukemia 72 0.152
383
P BRS047 Breast Cancer 100 0.145
384
P AST005 Asthma 81 0.123
385
P ART022 Arthritis 72 0.122
386
PRS047 Prostatitis 55 0.122
387
c HPT001 Hepatitis C 62 0.119
388
P LVR013 Liver Disease 72 0.110
389
c HPT073 Hepatitis C Virus 70 0.108
390
P LNG032 Lung Cancer 94 0.107
391
P LYM118 Lymphoma 69 0.104
392
P RHM011 Rheumatoid Arthritis 87 0.103
393
c HPT003 Hepatitis a 56 0.099
394
VRL011 Viral Infectious Disease 59 0.097
395
P ADN016 Adenocarcinoma 69 0.096
396
P PNC044 Pancreatitis 60 0.093
397
P KDN018 Kidney Disease 65 0.092
398
NRN002 Neuronitis 39 0.090
399
P CLR023 Colorectal Cancer 95 0.089
400
PRP019 Peripheral Nervous System Disease 53 0.089
401
SKN027 Skin Conditions 44 0.089
402
SQM006 Squamous Cell Carcinoma 69 0.088
403
SKN016 Skin Disease 64 0.088
404
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 53 0.086
405
MTH009 Mouth Disease 62 0.086
406
c VRL010 Viral Hepatitis 58 0.086
407
P NRB001 Neuroblastoma 71 0.084
408
c HPT016 Hepatitis B 62 0.082
409
P RNL014 Renal Cell Carcinoma 80 0.080
410
P MLT019 Multiple Myeloma 82 0.080
411
LNG099 Lung Disease 61 0.080
412
P HPT023 Hepatocellular Carcinoma 89 0.079
413
HPT074 Hepatic Adenoma, Somatic 44 0.079
414
BNS002 Bone Structure Disease 36 0.079
415
MLN008 Melanoma 70 0.078
416
c AST037 Asthma 1 33 0.078
417
URN009 Urinary System Disease 49 0.077
418
HNM002 Hinman Syndrome 27 0.076
419
DRG001 Drug Psychosis 41 0.075
420
CRB009 Cerebritis 39 0.075
421
ALR002 Al-Raqad Syndrome 29 0.075
422
SRC014 Sarcoma 66 0.074
423
P MYL006 Myeloid Leukemia 64 0.074
424
IMM136 Immune System Disease 53 0.074
425
P ART023 Arthropathy 62 0.073
426
P MYC007 Myocardial Infarction 77 0.073
427
RTN023 Retinitis 49 0.072
428
HYP266 Hypoxia 55 0.071
429
P THY032 Thyroiditis 53 0.071
430
GLC008 Glucose Metabolism Disease 44 0.071
431
c AST039 Asthma 2 31 0.071
432
PSY004 Psychotic Disorder 67 0.071
433
P LYM026 Lymphoblastic Leukemia 60 0.071
434
RHM027 Rheumatic Disease 57 0.071
435
JNT002 Joint Disorders 55 0.071
436
ART111 Artery Disease 55 0.071
437
P CLL015 Collagen Disease 50 0.071
438
P CRN211 Coronary Artery Disease 73 0.070
439
ACQ007 Acquired Immunodeficiency Syndrome 60 0.070
440
RSP006 Respiratory System Disease 60 0.069
441
NLL002 Null Syndrome 26 0.068
442
P INF038 Influenza 71 0.068
443
PRT037 Pertussis 63 0.068
444
ISC004 Ischemia 59 0.068
445
P PNC035 Pancreatic Cancer 84 0.067
446
ATN002 Autonomic Nervous System Disease 48 0.066
447
P CRV039 Cervicitis 45 0.066
448
GST050 Gastrointestinal System Disease 53 0.065
449
P HYP729 Hypersensitivity Reaction Disease 43 0.065
450
EYD002 Eye Disease 57 0.065
451
ORL011 Oral Cancer 56 0.065
452
ATM053 Autoimmune Disease 2 18 0.064
453
P SCH015 Schizophrenia 71 0.063
454
P THR014 Thrombocytopenia 63 0.063
455
SKN023 Skin Tag 46 0.063
456
RPR002 Reproductive System Disease 43 0.063
457
IMP003 Impaired Renal Function Disease 36 0.063
458
P PNM007 Pneumonia 66 0.062
459
CLT003 Colitis 58 0.062
460
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.062
461
ANX002 Anxiety Disorder 66 0.062
462
DRM006 Dermatitis 63 0.062
463
TTN003 Tetanus 60 0.062
464
P ORL007 Oral Cavity Cancer 57 0.062
465
AND005 Androgen Insensitivity Syndrome, Mild 16 0.062
466
HV1006 Hiv-1 80 0.061
467
c PND001 Pain Disorder 55 0.061
468
P OST012 Osteoarthritis 79 0.060
469
P EPL164 Epilepsy 65 0.060
470
P INF037 Inflammatory Bowel Disease 62 0.060
471
CNN005 Connective Tissue Disease 61 0.060
472
P ESP024 Esophagitis 59 0.060
473
c CHR090 Chronic Lymphocytic Leukemia 75 0.059
474
P NRV007 Nervous System Disease 70 0.059
475
c CHR089 Chronic Kidney Failure 65 0.059
476
DPH001 Diphtheria 57 0.059
477
LPD008 Lipid Metabolism Disorder 57 0.059
478
P SPS003 Spastic Diplegia 52 0.059
479
DMN002 Dementia 52 0.059
480
ADL002 Adult Syndrome 57 0.058
481
P HRT032 Heart Disease 75 0.057
482
P LPS004 Lupus Erythematosus 63 0.057
483
BRS051 Breast Disease 60 0.057
484
P GLM045 Glioma 59 0.057
485
P PRD008 Periodontitis 46 0.057
486
MDY003 Mody, Type Ii 40 0.057
487
BLD054 Blood Protein Disease 39 0.057
488
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 23 0.057
489
ATH003 Atherosclerosis 65 0.056
490
P ATP001 Atopic Dermatitis 60 0.056
491
c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 26 0.056
492
VSC007 Vascular Disease 65 0.056
493
BRT030 Birth Defects 44 0.056
494
PRM025 Primary Bacterial Infectious Disease 42 0.056
495
c CHR020 Chronic Interstitial Cystitis 41 0.056
496
ATM052 Autoimmune Disease 1 27 0.056
497
c SYS001 Systemic Lupus Erythematosus 86 0.055
498
P INF032 Infertility 57 0.055
499
BRN038 Bronchial Disease 53 0.055
500
P ATX004 Ataxia 52 0.055
501
ATM054 Autoimmune Disease 3 18 0.055
502
HMN014 Human Immunodeficiency Virus Infectious Disease 45 0.054
503
HPR003 Heparin-Induced Thrombocytopenia 44 0.054
504
THR024 Thrombosis 43 0.054
505
PNG002 Pain Agnosia 39 0.054
506
P BCL006 B-Cell Lymphomas 64 0.053
507
PNC041 Pancreatic Ductal Adenocarcinoma 62 0.053
508
P RHN004 Rhinitis 59 0.053
509
WTH001 Withdrawal Disorder 40 0.053
510
P GLB002 Glioblastoma 66 0.052
511
P NRM001 Neuromyelitis Optica 61 0.052
512
P INT068 Intestinal Disease 59 0.052
513
P GST049 Gastrointestinal System Cancer 59 0.052
514
LYM019 Lymphosarcoma 53 0.052
515
c HPT007 Hepatitis E 51 0.052
516
MLR004 Malaria 82 0.051
517
LVR012 Liver Cirrhosis 66 0.051
518
P CTR002 Cataract 57 0.051
519
PLM031 Poliomyelitis 55 0.051
520
ULC004 Ulcerative Colitis 72 0.050
521
P PLY011 Polycystic Ovary Syndrome 63 0.050
522
PLM129 Pulmonary Disease, Chronic Obstructive 62 0.050
523
c ACT073 Acute Leukemia 61 0.050
524
P NRP001 Neuropathy 57 0.050
525
LYM024 Lymphatic System Disease 49 0.050
526
PRP021 Peripheral Nervous System Neoplasm 48 0.050
527
HMP009 Haemophilus Influenzae 44 0.050
528
ALL003 Allergic Rhinitis 63 0.049
529
c CNT035 Central Nervous System Disease 60 0.049
530
ACN011 Acne 59 0.049
531
CSY001 C Syndrome 53 0.049
532
RTN018 Retinal Disease 51 0.049
533
c ADL001 Adult Lymphoma 35 0.049
534
HDG012 Hodgkin Lymphoma 73 0.048
535
TBR010 Tuberculosis 69 0.048
536
P CRD011 Cardiomyopathy 67 0.048
537
P CLR108 Colorectal Adenoma 59 0.048
538
MCS002 Mucositis 54 0.048
539
P RNL017 Renal Oncocytoma 45 0.048
540
P HMR003 Hemorrhagic Disease 55 0.047
541
NRM005 Neuromuscular Disease 55 0.047
542
P PLY014 Polycystic Kidney Disease 52 0.047
543
c CLL013 Cell Type Cancer 48 0.047
544
PHY002 Physical Disorder 43 0.047
545
BNC003 Bone Cancer 42 0.047
546
SPS057 Spasticity 42 0.047
547
MSC004 Muscle Tissue Disease 37 0.047
548
c TRC078 Trichohepatoenteric Syndrome 2 34 0.047
549
P ALZ034 Alzheimer Disease 76 0.046
550
CNG034 Congestive Heart Failure 70 0.046
551
THY028 Thyroid Cancer 68 0.046
552
P MYP004 Myopathy 68 0.046
553
P MSC005 Muscular Dystrophy 65 0.046
554
P PSR002 Psoriasis 64 0.046
555
CHL071 Child Syndrome 59 0.046
556
c ACT075 Acute Myocardial Infarction 59 0.046
557
KDS001 Kid Syndrome 57 0.046
558
P HYP069 Hyperparathyroidism 56 0.046
559
CHR177 Chromophobe Renal Cell Carcinoma 54 0.046
560
CND002 Conduct Disorder 53 0.046
561
P CNJ013 Conjunctivitis 63 0.045
562
GST045 Gastroenteritis 57 0.045
563
P EXN002 Exanthem 57 0.045
564
EPD016 Epidermolysis Bullosa 55 0.045
565
BRN004 Brain Edema 51 0.045
566
SBS004 Substance Dependence 49 0.045
567
P RTN024 Retinoblastoma 75 0.044
568
ESP021 Esophageal Cancer 74 0.044
569
LYM115 Lymphoma, Non-Hodgkin 63 0.044
570
ADN018 Adenoma 58 0.044
571
P ACT074 Acute Lymphocytic Leukemia 55 0.044
572
ISC006 Ischemic Heart Disease 53 0.044
573
P RTN016 Retinal Degeneration 53 0.044
574
PLS009 Plasma Cell Neoplasm 47 0.044
575
ALB002 Albinism 45 0.044
576
SNS023 Sensory System Cancer 44 0.044
577
TTR016 Tetra-Amelia Syndrome 38 0.044
578
P OST002 Osteoporosis 63 0.042
579
P HYP117 Hypertriglyceridemia 61 0.042
580
HYP056 Hypoglycemia 60 0.042
581
ORL015 Oral Squamous Cell Carcinoma 55 0.042
582
MNT002 Mental Depression 52 0.042
583
P MSC033 Muscle Disorders 52 0.042
584
END030 End Stage Renal Failure 51 0.042
585
SPN051 Spondylitis 51 0.042
586
CCN002 Cocaine Abuse 47 0.042
587
ADJ001 Adjustment Disorder 38 0.042
588
END057 Endometrial Cancer 74 0.041
589
MYL009 Myelodysplastic Syndrome 71 0.041
590
SQM013 Squamous Cell Carcinoma, Head and Neck 69 0.041
591
P MNN013 Meningitis 65 0.041
592
P DRR001 Diarrhea 59 0.041
593
PRS042 Prostate Disease 51 0.041
594
CLN019 Colonic Disease 51 0.041
595
c HPT015 Hepatitis D 47 0.041
596
HPT070 Hepatosplenic T-Cell Lymphoma 39 0.041
597
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.041
598
CRH001 Crohn's Disease 73 0.040
599
P AST007 Astrocytoma 63 0.040
600
HMT002 Hematologic Cancer 62 0.040
601
RNL101 Renal Cell Carcinoma, Papillary 62 0.040
602
ANR040 Aneurysm 57 0.040
603
P OCL002 Oculocutaneous Albinism 55 0.040
604
P LTR001 Lateral Sclerosis 53 0.040
605
NSD001 Nose Disease 49 0.040
606
DRG003 Drug Dependence 48 0.040
607
MYL001 Myelitis 48 0.040
608
NTR005 Nutritional Deficiency Disease 47 0.040
609
ATN003 Autonomic Nervous System Neoplasm 41 0.040
610
VSC008 Vascular Hemostatic Disease 32 0.040
611
c CRN174 Coronary Heart Disease 2 21 0.040
612
c BSL007 Basal Cell Carcinoma 64 0.039
613
GST033 Gestational Diabetes 55 0.039
614
PRP016 Paraplegia 48 0.039
615
P TCL004 T-Cell Leukemia 46 0.039
616
CRN024 Corneal Disease 43 0.039
617
RCT017 Rectal Disease 38 0.039
618
ADP007 Adie Pupil 35 0.039
619
ATT013 Attention Deficit-Hyperactivity Disorder 66 0.037
620
GNG013 Gingivitis 61 0.037
621
P HYP060 Hyperinsulinism 57 0.037
622
ALL006 Allergic Asthma 54 0.037
623
P LPD010 Lipodystrophy 53 0.037
624
SPN041 Spinal Cord Disease 46 0.037
625
PLP001 Pulpitis 44 0.037
626
c CHR418 Chronic Leukemia 43 0.037
627
RTR008 Root Resorption 41 0.037
628
HMT018 Hematopoietic Stem Cell Transplantation 40 0.037
629
SBC017 Sebaceous Gland Disease 34 0.037
630
LYM023 Lymphatic System Cancer 32 0.037
631
c CRN172 Coronary Heart Disease 3 20 0.037
632
CYS001 Cystic Fibrosis 86 0.036
633
P DBT085 Diabetes Mellitus, Insulin-Dependent 79 0.036
634
P PLM037 Pulmonary Hypertension 77 0.036
635
c LKM061 Leukemia, Acute Myeloid 74 0.036
636
GST019 Gastrointestinal Stromal Tumor 74 0.036
637
PCK002 Pick Disease 68 0.036
638
MYC006 Mycosis Fungoides 67 0.036
639
P HRP006 Herpes Simplex 62 0.036
640
GLB015 Glioblastoma Multiforme 61 0.036
641
CTN007 Cutaneous Leishmaniasis 61 0.036
642
FTT001 Fatty Liver Disease 59 0.036
643
MSL001 Measles 58 0.036
644
CTS003 Coats Disease 58 0.036
645
P MTR004 Maturity-Onset Diabetes of the Young 57 0.036
646
ART021 Arteriosclerosis 57 0.036
647
P LRY019 Laryngitis 53 0.036
648
P ENC018 Encephalopathy 52 0.036
649
BLD044 Bladder Disease 50 0.036
650
CLF001 Cleft Lip 49 0.036
651
SML033 Small Cell Cancer of the Lung, Somatic 48 0.036
652
BLD053 Blood Platelet Disease 46 0.036
653
NSP002 Nasopharyngitis 40 0.036
654
P HYP265 Hypotonia 39 0.036
655
c OST147 Osteoarthritis 1 35 0.036
656
ATM059 Autoimmune Disease 6 27 0.036
657
FCL001 Facial Dermatosis 24 0.036
658
PHN003 Phenylketonuria 72 0.035
659
P NSP012 Nasopharyngeal Carcinoma 66 0.035
660
MLD001 Melioidosis 65 0.035
661
P LKM068 Leukemia, Chronic Myeloid, Somatic 64 0.035
662
c LKM062 Leukemia, Acute Lymphoblastic 63 0.035
663
ATP002 Atopy 61 0.035
664
P SLP006 Sleep Apnea 60 0.035
665
P NRV006 Nervous System Cancer 59 0.035
666
PRP030 Purpura 57 0.035
667
MVM001 Movement Disease 52 0.035
668
P ECL001 Eclampsia 51 0.035
669
BNM001 Bone Marrow Cancer 51 0.035
670
FML037 Female Breast Cancer 50 0.035
671
P PRM006 Primary Biliary Cirrhosis 50 0.035
672
P JNC001 Junctional Epidermolysis Bullosa 48 0.035
673
PRT030 Parathyroid Gland Disease 47 0.035
674
CRD118 Cardiovascular Cancer 45 0.035
675
IMM071 Immunodeficiency 12 30 0.035
676
PRM243 Primary Bone Cancer 25 0.035
677
c RNL016 Renal Infectious Disease 23 0.035
678
P STM004 Stomach Cancer 72 0.033
679
KRT004 Keratitis 70 0.033
680
LSH001 Leishmaniasis 66 0.033
681
P ENC004 Encephalitis 61 0.033
682
PRT036 Peritonitis 60 0.033
683
HYP066 Hyperglycemia 59 0.033
684
P NPH012 Nephrotic Syndrome 59 0.033
685
P MCR010 Microcephaly 58 0.033
686
P GRV001 Graves' Disease 57 0.033
687
CNS004 Constipation 56 0.033
688
c PRC016 Pre-Eclampsia 56 0.033
689
NRN004 Neuroendocrine Tumor 55 0.033
690
PLS007 Plasmodium Falciparum Malaria 54 0.033
691
KRT006 Keratoconjunctivitis 52 0.033
692
BNF002 Bone Fracture 51 0.033
693
VND001 Vein Disease 49 0.033
694
DBT084 Diabetes Mellitus, Ketosis-Prone 49 0.033
695
HRT007 Heart Cancer 46 0.033
696
LKC003 Leukocyte Disease 46 0.033
697
P HYP087 Hypotrichosis 45 0.033
698
LYM067 Lymphoid Leukemia 43 0.033
699
GRM001 Germ Cell and Embryonal Cancer 38 0.033
700
MLR007 Male Reproductive System Disease 36 0.033
701
P HRT017 Heart Tumor 34 0.033
702
c MYC058 Myocardial Infarction 2 28 0.033
703
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 25 0.033
704
P CRB042 Cerebellar Ataxia 69 0.032
705
P PLM036 Pulmonary Fibrosis 68 0.032
706
RCT015 Reactive Arthritis 63 0.032
707
P HRM001 Hermansky-Pudlak Syndrome 61 0.032
708
ALC006 Alcoholic Hepatitis 58 0.032
709
P NTR004 Neutropenia 58 0.032
710
P GT001 Gout 55 0.032
711
P SZR006 Seizure Disorder 54 0.032
712
P END044 Endometriosis 53 0.032
713
RCT018 Rectal Neoplasm 53 0.032
714
HYP080 Hypogonadism 52 0.032
715
BRN106 Burns 52 0.032
716
NWC001 Newcastle Disease 51 0.032
717
GST040 Gastric Adenocarcinoma 51 0.032
718
TTH006 Tooth Disease 51 0.032
719
SCK005 Sickle Cell Disease 51 0.032
720
ESP023 Esophageal Disease 50 0.032
721
NNL002 Nonalcoholic Steatohepatitis 50 0.032
722
c BSL024 Basal Cell Carcinoma 1 45 0.032
723
DWR001 Dwarfism 45 0.032
724
MNN020 Meningococcal Infection 42 0.032
725
ATM014 Autoimmune Disease of Endocrine System 35 0.032
726
HPD002 Hepadnavirus Infection 22 0.032
727
INS024 Insulin-Like Growth Factor I 75 0.030
728
P HMC003 Hemochromatosis 72 0.030
729
P MYS003 Myasthenia Gravis 67 0.030
730
P TRN020 Turner Syndrome 65 0.030
731
P AMY004 Amyloidosis 64 0.030
732
GST092 Gastroesophageal Reflux 62 0.030
733
P DYS154 Dystonia 61 0.030
734
P BPL003 Bipolar Disorder 60 0.030
735
CHL123 Chlamydia 58 0.030
736
c ADL017 Adult T-Cell Leukemia 58 0.030
737
RHB003 Rhabdomyosarcoma 58 0.030
738
IRR002 Irritable Bowel Syndrome 57 0.030
739
PTT006 Pituitary Adenoma 56 0.030
740
P HMP007 Hemophilia 55 0.030
741
HRY003 Hairy Cell Leukemia 55 0.030
742
ALP008 Alopecia 54 0.030
743
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.030
744
VSC006 Vascular Cancer 52 0.030
745
ALL009 Allergic Conjunctivitis 50 0.030
746
ANG054 Angina Pectoris 49 0.030
747
THY030 Thyroid Gland Disease 49 0.030
748
RNL007 Renal Tubular Acidosis 48 0.030
749
KRT009 Keratosis 48 0.030
750
CCN001 Cocaine Dependence 48 0.030
751
BCT015 Bacteremia 47 0.030
752
CNJ012 Conjunctival Disease 45 0.030
753
c PRM023 Pre-Malignant Neoplasm 43 0.030
754
PRS036 Parasitic Protozoa Infectious Disease 42 0.030
755
c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 42 0.030
756
BCK006 Back Pain 41 0.030
757
FBR054 Fibroma 41 0.030
758
P OSS001 Ossifying Fibroma 41 0.030
759
P ATX024 Ataxia-Oculomotor Apraxia 3 41 0.030
760
TNP001 Tinea Pedis 37 0.030
761
c INF078 Inflammatory Bowel Disease 2 32 0.030
762
ACT118 Acute Non Lymphoblastic Leukemia 30 0.030
763
P HYP607 Hypercholesterolemia, Familial 75 0.028
764
P FLL037 Follicular Lymphoma 71 0.028
765
KWS002 Kawasaki Disease 67 0.028
766
BSL036 Basal Cell Nevus Syndrome 67 0.028
767
P ATR011 Atrial Fibrillation 65 0.028
768
P KDN017 Kidney Cancer 65 0.028
769
OTT002 Otitis Media 65 0.028
770
P LPR003 Leprosy 63 0.028
771
VSC011 Vasculitis 62 0.028
772
P HYP086 Hypothyroidism 60 0.028
773
P ALP009 Alopecia Areata 60 0.028
774
P SNS014 Sinusitis 59 0.028
775
c MLG068 Malignant Glioma 59 0.028
776
BLL006 Bullous Pemphigoid 59 0.028
777
OST017 Osteomyelitis 58 0.028
778
P UVT001 Uveitis 57 0.028
779
MTR014 Motor Neuron Disease 56 0.028
780
URT039 Urticaria 56 0.028
781
P GLM007 Glomerulonephritis 55 0.028
782
P MMP001 Mumps 54 0.028
783
P NPH005 Nephronophthisis 54 0.028
784
P MYC008 Myocarditis 53 0.028
785
c LYM107 Lymphoproliferative Syndrome 2 53 0.028
786
DMY004 Demyelinating Disease 53 0.028
787
P RBL001 Rubella 53 0.028
788
P CYS018 Cystitis 52 0.028
789
P TRC086 Trichohepatoenteric Syndrome 1 51 0.028
790
CLN015 Colon Adenocarcinoma 49 0.028
791
PMP001 Pemphigus 49 0.028
792
P PLN008 Peeling Skin Syndrome 49 0.028
793
APR001 Apraxia 49 0.028
794
P TRN034 Transverse Myelitis 48 0.028
795
STM006 Stomach Disease 47 0.028
796
CRN017 Coronary Thrombosis 47 0.028
797
DYS073 Dysphagia 47 0.028
798
CHR005 Chorioamnionitis 47 0.028
799
DBT006 Diabetic Macular Edema 46 0.028
800
c CLR085 Colorectal Cancer 1 46 0.028
801
BSL008 Basal Ganglia Disease 44 0.028
802
ANX004 Anoxia 44 0.028
803
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 43 0.028
804
MCL006 Macular Retinal Edema 42 0.028
805
c HRD026 Hereditary Ataxia 42 0.028
806
c CHR579 Chiari Malformation Type Ii 40 0.028
807
MNR003 Mineral Metabolism Disease 40 0.028
808
MCL027 Macular Dystrophy, Dominant Cystoid 39 0.028
809
PHT003 Phototoxic Dermatitis 37 0.028
810
c LYM106 Lymphoproliferative Syndrome 1 36 0.028
811
c BRN108 Branchiootic Syndrome 1 35 0.028
812
IMM068 Immunodeficiency 8 34 0.028
813
GLC077 Glucocorticoid Therapy, Response to 18 0.028
814
RFR001 Refractory Plasma Cell Neoplasm 18 0.028
815
P MDL005 Medulloblastoma 73 0.026
816
c MCL042 Macular Degeneration, Age-Related, 1 72 0.026
817
KPS004 Kaposi Sarcoma 67 0.026
818
BRN028 Brain Cancer 67 0.026
819
ART016 Aortic Aneurysm 67 0.026
820
c HRD010 Hereditary Spastic Paraplegia 66 0.026
821
OBS061 Obstructive Sleep Apnea 65 0.026
822
PRM097 Primary Immunodeficiency Disease 64 0.026
823
PSR001 Psoriatic Arthritis 63 0.026
824
BRN024 Bronchitis 62 0.026
825
ALC007 Alcohol Dependence 62 0.026
826
P THL005 Thalassemia 61 0.026
827
P SHR029 Short Syndrome 61 0.026
828
P FCL005 Focal Segmental Glomerulosclerosis 60 0.026
829
MCR013 Microphthalmia 59 0.026
830
KRT001 Keratoconjunctivitis Sicca 59 0.026
831
OCL009 Ocular Cancer 58 0.026
832
c ACT027 Acute Pancreatitis 56 0.026
833
PNC033 Pancreas Adenocarcinoma 56 0.026
834
SFT003 Soft Tissue Sarcoma 56 0.026
835
VSC003 Visceral Leishmaniasis 55 0.026
836
GLC003 Glucose Intolerance 54 0.026
837
TNG009 Tongue Squamous Cell Carcinoma 54 0.026
838
P OVR049 Ovarian Disease 54 0.026
839
P PLY006 Polydactyly 54 0.026
840
P MNC007 Monocytic Leukemia 54 0.026
841
LYM027 Lymphopenia 54 0.026
842
c MPL012 Maple Syrup Urine Disease, Type Ii 54 0.026
843
P TRM003 Tremor 53 0.026
844
c BCT007 Bacterial Meningitis 53 0.026
845
ERY003 Erythema Multiforme 53 0.026
846
P ICH004 Ichthyosis 53 0.026
847
HDC001 Headache 53 0.026
848
PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 52 0.026
849
P CTN015 Cutaneous T Cell Lymphoma 51 0.026
850
NRT004 Neuritis 51 0.026
851
c CHR417 Chronic Graft Versus Host Disease 50 0.026
852
CLR109 Colorectal Adenocarcinoma 49 0.026
853
BRN032 Brain Glioma 48 0.026
854
DRY001 Dry Eye Syndrome 48 0.026
855
P CHR345 Chronic Pain 48 0.026
856
WDH003 Woodhouse-Sakati Syndrome 47 0.026
857
OCL006 Ocular Hypertension 46 0.026
858
RNL077 Renal Fibrosis 46 0.026
859
c CNG012 Congenital Generalized Lipodystrophy 43 0.026
860
PRD007 Periodontal Disease 42 0.026
861
KHL003 Kohlschutter-Tonz Syndrome 42 0.026
862
VGN023 Vaginitis 41 0.026
863
GND003 Gonadal Disease 40 0.026
864
NSL022 Nasal Cavity Disease 40 0.026
865
OPD001 Opioid Abuse 39 0.026
866
BND014 Bone Development Disease 39 0.026
867
ATM012 Autoimmune Disease of Blood 37 0.026
868
c HYP311 Hyperparathyroidism 3 36 0.026
869
c CLR080 Colorectal Cancer 5 34 0.026
870
P GRM010 Germ Cells Tumors 34 0.026
871
SWL001 Swallowing Disorders 32 0.026
872
c PLN021 Peeling Skin Syndrome 3 32 0.026
873
EYD001 Eye Degenerative Disease 32 0.026
874
VTM003 Vitamin Metabolic Disorder 31 0.026
875
IMM076 Immunodeficiency 24 29 0.026
876
c CLR075 Colorectal Cancer 3 29 0.026
877
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28 0.026
878
c BSL025 Basal Cell Carcinoma 2 19 0.026
879
c PRM287 Primary Adult Heart Tumor 18 0.026
880
HML018 Homologous Wasting Disease 16 0.026
881
P RTN008 Retinitis Pigmentosa 80 0.024
882
P PHC003 Pheochromocytoma 72 0.024
883
MNT001 Mantle Cell Lymphoma 72 0.024
884
DWN001 Down Syndrome 69 0.024
885
P CLC005 Celiac Disease 69 0.024
886
SVR004 Severe Combined Immunodeficiency 69 0.024
887
P RSP003 Respiratory Failure 68 0.024
888
CHG001 Chagas Disease 66 0.024
889
PRP027 Peripheral Vascular Disease 65 0.024
890
P HLP001 Holoprosencephaly 65 0.024
891
P HMP002 Hemophagocytic Lymphohistiocytosis 64 0.024
892
EWN003 Ewing Sarcoma 64 0.024
893
AND015 Androgen Insensitivity 63 0.024
894
PLM001 Pulmonary Tuberculosis 63 0.024
895
c ATS347 Autosomal Dominant Polycystic Kidney Disease 61 0.024
896
P ASP006 Aspergillosis 60 0.024
897
MDD011 Mood Disorder 59 0.024
898
CNT047 Contact Dermatitis 59 0.024
899
DFF005 Diffuse Large B-Cell Lymphoma 58 0.024
900
MRB003 Morbid Obesity 58 0.024
901
WLL006 Wells Syndrome 58 0.024
902
P ALC004 Alcohol Abuse 57 0.024
903
P PND002 Pendred Syndrome 56 0.024
904
ALL010 Allergic Contact Dermatitis 54 0.024
905
DBT010 Diabetic Neuropathy 54 0.024
906
RLP002 Relapsing-Remitting Multiple Sclerosis 54 0.024
907
P MLT074 Multiple Endocrine Neoplasia 54 0.024
908
SNS001 Sensorineural Hearing Loss 54 0.024
909
FLR002 Filariasis 54 0.024
910
DSS008 Disease of Mental Health 53 0.024
911
ECH003 Echinococcosis 52 0.024
912
OST015 Osteochondrodysplasia 52 0.024
913
BRN002 Bronchiolitis 52 0.024
914
LYS002 Lysosomal Storage Disease 52 0.024
915
P DBT005 Diabetes Insipidus 52 0.024
916
CYT008 Cytomegalovirus Infection 51 0.024
917
P FNC043 Fanconi Anemia, Complementation Group E 51 0.024
918
END035 Endocrine Gland Cancer 50 0.024
919
BRN071 Brain Injury 50 0.024
920
BLT006 Bilateral Breast Cancer 50 0.024
921
TMP001 Temporal Lobe Epilepsy 50 0.024
922
P MSC003 Muscular Atrophy 49 0.024
923
P AGG001 Aggressive Periodontitis 49 0.024
924
AMN001 Amenorrhea 49 0.024
925
c LKM060 Leukemia, Acute Lymphoblastic 3 49 0.024
926
HYP037 Hyperhomocysteinemia 49 0.024
927
CRN030 Coronary Stenosis 49 0.024
928
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 48 0.024
929
P DDN001 Duodenal Ulcer 48 0.024
930
OPT009 Optic Neuritis 48 0.024
931
LYM116 Lymph Node Disease 47 0.024
932
CRB025 Carbohydrate Metabolic Disorder 47 0.024
933
P RNL015 Renal Hypertension 47 0.024
934
ANG018 Angiomyolipoma 45 0.024
935
NSY001 N Syndrome 44 0.024
936
CHR008 Choroiditis 43 0.024
937
SPN035 Spindle Cell Sarcoma 43 0.024
938
CHC001 Chickenpox 43 0.024
939
SPN119 Spondylarthropathy 42 0.024
940
SXL003 Sexual Disorder 42 0.024
941
VSC018 Visceral Steatosis 41 0.024
942
MCL003 Macular Holes 41 0.024
943
LCR008 Lacrimal Apparatus Disease 40 0.024
944
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39 0.024
945
GST078 Gastrointestinal Allergy 39 0.024
946
c PRS116 Prostate Cancer 1 39 0.024
947
PGM003 Pigmentation Disease 39 0.024
948
c INF088 Inflammatory Bowel Disease 5 32 0.024
949
DYS011 Dyskinesia of Esophagus 32 0.024
950
c MCL043 Macular Degeneration, Age-Related, 2 31 0.024
951
c CLR079 Colorectal Cancer 2 30 0.024
952
ACT095 Acute Biphenotypic Leukemia 27 0.024
953
c LKM004 Leukemia, B-Cell, Chronic 26 0.024
954
P CRN178 Coronary Heart Disease 6 22 0.024
955
c ALP039 Alopecia Areata 1 22 0.024
956
c LKM055 Leukemia, Acute Lymphoblastic 2 22 0.024
957
c BSL026 Basal Cell Carcinoma 3 20 0.024
958
SPN015 Spinal Polio 11 0.024
959
DCH001 Duchenne Muscular Dystrophy 79 0.022
960
c AMY091 Amyotrophic Lateral Sclerosis 1 78 0.022
961
P HNT016 Huntington Disease 76 0.022
962
c DLT002 Dilated Cardiomyopathy 74 0.022
963
P ALP004 Alport Syndrome 70 0.022
964
P FML011 Familial Adenomatous Polyposis 69 0.022
965
c JVN004 Juvenile Myelomonocytic Leukemia 69 0.022
966
P HYD006 Hydrocephalus 66 0.022
967
GLC006 Galactosemia 66 0.022
968
P BRD002 Bardet-Biedl Syndrome 64 0.022
969
CNR002 Cone-Rod Dystrophy 63 0.022
970
P SPN046 Spinal Muscular Atrophy 63 0.022
971
HSH003 Hashimoto Thyroiditis 62 0.022
972
P HYP098 Hypereosinophilic Syndrome 61 0.022
973
TYP007 Typhoid Fever 61 0.022
974
c CNG006 Congenital Hypothyroidism 60 0.022
975
HPY002 H. Pylori Infection 60 0.022
976
DNG002 Dengue Hemorrhagic Fever 60 0.022
977
P SPN052 Spondyloarthropathy 59 0.022
978
P PRT013 Portal Hypertension 58 0.022
979
APH001 Aphthous Stomatitis 58 0.022
980
WST001 West Syndrome 58 0.022
981
CRV047 Cervical Cancer, Somatic 58 0.022
982
CHL068 Cholestasis 58 0.022
983
P INT063 Intellectual Disability 58 0.022
984
EXF001 Exfoliation Syndrome 57 0.022
985
LNN001 Lennox-Gastaut Syndrome 57 0.022
986
P WRD001 Waardenburg's Syndrome 56 0.022
987
ETN001 Eating Disorder 56 0.022
988
P STR022 Stargardt Disease 56 0.022
989
PLS011 Plasmacytoma 56 0.022
990
TNS005 Tonsillitis 56 0.022
991
PNC034 Pancreas Disease 55 0.022
992
MLG077 Malignant Peripheral Nerve Sheath Tumor 55 0.022
993
P PRC031 Preeclampsia/eclampsia 1 55 0.022
994
P SML001 Small Cell Carcinoma 55 0.022
995
END041 Endometrial Adenocarcinoma 55 0.022
996
P ANT006 Antiphospholipid Syndrome 54 0.022
997
PLN006 Poland Syndrome 54 0.022
998
P PRG013 Paraganglioma 54 0.022
999
HRP004 Herpes Zoster 54 0.022
1000
PLM034 Pulmonary Emphysema 54 0.022
1001
CRB037 Cerebral Palsy 54 0.022
1002
P HYP083 Hypopituitarism 54 0.022
1003
P HMR012 Hemorrhagic Fever 52 0.022
1004
PLM010 Pulmonary Edema 52 0.022
1005
LYM040 Lymphoblastic Lymphoma 52 0.022
1006
GTR002 Goiter 52 0.022
1007
ALL026 Allergic Hypersensitivity Disease 52 0.022
1008
P PYL005 Pyelonephritis 52 0.022
1009
c PRK031 Parkinson Disease 1 51 0.022
1010
TRM010 Traumatic Brain Injury 51 0.022
1011
BCT002 Bacterial Vaginosis 51 0.022
1012
ACT008 Actinic Keratosis 51 0.022
1013
HST011 Histoplasmosis 51 0.022
1014
CLR030 Clear Cell Renal Cell Carcinoma 51 0.022
1015
DCT002 Ductal Carcinoma in Situ 50 0.022
1016
INF034 Infective Endocarditis 50 0.022
1017
MSS002 Mass Syndrome 49 0.022
1018
OPT003 Opiate Dependence 49 0.022
1019
MCR004 Macroglobulinemia 48 0.022
1020
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.022
1021
c ACT071 Acute Kidney Failure 48 0.022
1022
ECT026 Ectopic Pregnancy 48 0.022
1023
OVR063 Overnutrition 48 0.022
1024
P OPN001 Open-Angle Glaucoma 48 0.022
1025
RTN003 Retinal Ischemia 47 0.022
1026
P CTN003 Cutaneous Lupus Erythematosus 47 0.022
1027
SKL014 Skeletal Dysplasia 46 0.022
1028
UPP004 Upper Respiratory Tract Disease 46 0.022
1029
MNL001 Monilethrix 46 0.022
1030
GDS001 Good Syndrome 46 0.022
1031
FML039 Female Reproductive System Disease 46 0.022
1032
DNT012 Dental Caries 46 0.022
1033
ILT001 Ileitis 46 0.022
1034
ALV002 Alveolar Echinococcosis 44 0.022
1035
SKL017 Skeletal Dysplasias 44 0.022
1036
DBT008 Diabetic Angiopathy 44 0.022
1037
c HMG001 Hemoglobin C Disease 44 0.022
1038
OST003 Osteonecrosis 43 0.022
1039
CRB002 Cerebral Primitive Neuroectodermal Tumor 43 0.022
1040
PTT037 Pituitary Tumors 43 0.022
1041
THY049 Thyroid Cancer, Anaplastic 43 0.022
1042
LYM020 Lymph Node Cancer 42 0.022
1043
DYS018 Dysostosis 42 0.022
1044
CRB004 Cerebral Artery Occlusion 42 0.022
1045
MNN032 Meningococcal Meningitis 42 0.022
1046
c PRM225 Primary Thrombocytopenia 42 0.022
1047
DCB001 Decubitus Ulcer 42 0.022
1048
DRM011 Dermatophytosis 42 0.022
1049
P CNN004 Connective Tissue Cancer 42 0.022
1050
CRN025 Corneal Dystrophy 41 0.022
1051
c INF086 Inflammatory Bowel Disease 3 41 0.022
1052
PLS016 Plasma Cell Leukemia 41 0.022
1053
P ABD016 Abdominal Obesity-Metabolic Syndrome 41 0.022
1054
SYN007 Synovitis 41 0.022
1055
PRC003 Proctitis 40 0.022
1056
GST071 Gastrointestinal Carcinoma 40 0.022
1057
P CHR562 Chronic Myelocytic Leukemia 38 0.022
1058
P FML187 Familial Hypertension 37 0.022
1059
PRP017 Periapical Periodontitis 37 0.022
1060
P CHR084 Chromosomal Disease 37 0.022
1061
c PRG003 Progesterone-Receptor Negative Breast Cancer 36 0.022
1062
CPL005 Capillary Disease 36 0.022
1063
IMM065 Immunodeficiency 10 36 0.022
1064
PRP080 Peripheral Artery Disease 36 0.022
1065
c INF089 Inflammatory Bowel Disease 6 35 0.022
1066
NDL009 Nodular Basal Cell Carcinoma 34 0.022
1067
ODN006 Odontoma 33 0.022
1068
BNL002 Bone Lymphoma 33 0.022
1069
HMR023 Hemorrhagic Cystitis 32 0.022
1070
c SYS043 Systemic Lupus Erythematosus 1 32 0.022
1071
TYP027 Type 1 Diabetes Mellitus 10 30 0.022
1072
P EPD025 Epidermolysis Bullosa with Pyloric Atresia 28 0.022
1073
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 28 0.022
1074
c SYS038 Systemic Lupus Erythematosus 2 27 0.022
1075
P MCL035 Macular Dystrophy, Retinal, 2 27 0.022
1076
PRM151 Primary Bone Lymphoma 26 0.022
1077
ACT216 Acute Leukemia of Ambiguous Lineage 26 0.022
1078
MND006 Mondor Disease 22 0.022
1079
c LKM051 Leukemia, Chronic Lymphocytic 3 22 0.022
1080
c SML023 Small Cell Lung Cancer, Adult 17 0.022
1081
P RTT002 Rett Syndrome 82 0.020
1082
NRL016 Neural Tube Defects 76 0.020
1083
SCK003 Sickle Cell Anemia 71 0.020
1084
MLT021 Multiple System Atrophy 70 0.020
1085
P DMN001 Diamond-Blackfan Anemia 70 0.020
1086
CHR012 Chronic Granulomatous Disease 66 0.020
1087
ACR007 Acromegaly 66 0.020
1088
P CWD001 Cowden Disease 65 0.020
1089
P PRD006 Prader-Willi Syndrome 65 0.020
1090
P CRN037 Craniosynostosis 65 0.020
1091
CNG368 Congenital Adrenal Hyperplasia 63 0.020
1092
CRB039 Cerebrovascular Disease 63 0.020
1093
CRY002 Cryptorchidism 61 0.020