Search results for 4

3897 hits were found for 4

# Family MCID Name MIFTS Score
1
c GLY007 Glycogen Storage Disease Iv 55 4.152
2
c LPD035 Lipodystrophy, Congenital Generalized, Type 4 30 3.140
3
c ATX016 Ataxia, Spastic, 4 24 3.038
4
c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 35 2.938
5
c PNT013 Pontocerebellar Hypoplasia Type 4 29 2.834
6
c ORF035 Orofaciodigital Syndrome Iv 25 2.719
7
MDY006 Mody, Type Iv 30 2.619
8
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 46 2.609
9
SHR066 Short-Rib Thoracic Dysplasia 4 with or Without Polydactyly 38 2.604
10
c ALZ035 Alzheimer Disease-4 45 2.598
11
c NPH032 Nephronophthisis 4 41 2.494
12
c SPS091 Spastic Paraplegia 4 24 2.494
13
c PRK030 Parkinson Disease 4 38 2.492
14
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 41 2.489
15
IMM131 Immunodeficiency with Hyper-Igm, Type 4 37 2.481
16
c HMC035 Hemochromatosis, Type 4 39 2.373
17
c LBR014 Leber Congenital Amaurosis 4 44 2.366
18
c SPN105 Spinocerebellar Ataxia 4 32 2.363
19
c EPP014 Epiphyseal Dysplasia, Multiple, 4 27 2.363
20
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 42 2.360
21
c HRM007 Hermansky-Pudlak Syndrome 4 31 2.360
22
c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 37 2.357
23
c RTN092 Retinitis Pigmentosa 4, Autosomal Dominant or Recessive 30 2.357
24
BLC009 Bile Acid Synthesis Defect, Congenital, 4 27 2.357
25
c CTR103 Cataract 4, Multiple Types 39 2.226
26
c ATR031 Atrial Septal Defect 4 35 2.226
27
c LPD034 Lipodystrophy, Familial Partial, Type 4 24 2.226
28
c CRD203 Cardiomyopathy, Hypertrophic, 4 41 2.223
29
c LKD008 Leukodystrophy, Hypomyelinating, 4 35 2.223
30
c WRB005 Warburg Micro Syndrome 4 33 2.223
31
DRR005 Diarrhea 4, Malabsorptive, Congenital 33 2.223
32
c PRG021 Paragangliomas 4 31 2.223
33
c LSS010 Lissencephaly 4 30 2.223
34
c CHL083 Cholestasis, Progressive Familial Intrahepatic 4 28 2.223
35
c SPH016 Spherocytosis, Type 4 28 2.223
36
c OST137 Osteopetrosis, Autosomal Recessive 4 24 2.223
37
EPL108 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 24 2.223
38
c MCR109 Microphthalmia, Isolated 4 22 2.223
39
c BRG004 Brugada Syndrome 4 22 2.223
40
MTC092 Mitochondrial Complex Deficiency, Nuclear Type 4 20 2.223
41
c LTH026 Lethal Congenital Contracture Syndrome 4 18 2.223
42
CWC001 Cowchock Syndrome 36 2.217
43
c MCL038 Macular Degeneration, Age-Related, 4 26 2.104
44
c THR048 Thrombocytopenia 4 26 2.099
45
c BRD016 Bardet-Biedl Syndrome 4 42 2.087
46
c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 23 2.084
47
LYS017 Loeys-Dietz Syndrome 4 36 2.081
48
c SPN318 Spinal Muscular Atrophy-4 35 2.081
49
c ACR091 Aicardi-Goutieres Syndrome 4 35 2.081
50
c NNN011 Noonan Syndrome 4 32 2.081
51
c ART028 Aortic Aneurysm, Familial Thoracic 4 28 2.081
52
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 27 2.081
53
c HYP302 Hypomagnesemia 4, Renal 24 2.081
54
c CRN111 Cranioectodermal Dysplasia 4 23 2.081
55
EPL071 Epilepsy, Nocturnal Frontal Lobe, Type 4 22 2.081
56
CMB015 Combined Oxidative Phosphorylation Deficiency 4 22 2.081
57
RTN036 Retinal Cone Dystrophy 4 21 2.081
58
c FBR069 Febrile Seizures, Familial, 4 21 2.081
59
c MYP098 Myopathy, Centronuclear, 4 20 2.081
60
c TRM017 Tremor, Hereditary Essential, 4 18 2.081
61
P TTH013 Tooth Agenesis, Selective, 4 17 2.081
62
CRD054 Cardiac Arrhythmia, Ankyrin-B-Related 23 2.078
63
c CLR067 Ciliary Dyskinesia, Primary, 4 21 2.078
64
c MCR262 Microphthalmia, Syndromic 4 20 2.078
65
c FBR080 Fibromatosis, Gingival, 4 13 2.078
66
c EHL057 Ehlers-Danlos Syndrome, Type Iv 60 2.074
67
c MLT086 Multiple Endocrine Neoplasia, Type Iv 51 2.074
68
c SCH051 Schizophrenia 4 28 1.947
69
c PLM121 Pulmonary Hypertension, Primary, 4 28 1.935
70
ARR033 Arrhythmogenic Right Ventricular Dysplasia 4 17 1.935
71
c NML017 Nemaline Myopathy 4, Autosomal Dominant 28 1.932
72
c JBR018 Joubert Syndrome 4 26 1.932
73
c STR054 Stargardt Disease 4 22 1.932
74
c SPR089 Spermatogenic Failure 4 20 1.932
75
NRP015 Neuropathy, Congenital Hypomyelinating 52 1.928
76
c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 41 1.928
77
PTT044 Pituitary Hormone Deficiency, Combined, 4 29 1.928
78
GLC073 Glucocorticoid Deficiency 4 28 1.928
79
c SCK010 Seckel Syndrome 4 28 1.928
80
c SRF008 Surfactant Metabolism Dysfunction, Pulmonary, 4 26 1.928
81
c MCR254 Microcephaly 4, Primary, Autosomal Recessive 26 1.928
82
P MYP095 Myopathy, Distal, 4 25 1.928
83
c AGM007 Agammaglobulinemia 4 24 1.928
84
P CRB100 Cerebrooculofacioskeletal Syndrome 4 22 1.928
85
c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 22 1.928
86
c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 21 1.928
87
c SNR004 Senior-Loken Syndrome 4 21 1.928
88
c BRS098 Breast-Ovarian Cancer, Familial 4 21 1.928
89
c MRG011 Meier-Gorlin Syndrome 4 20 1.928
90
c SPL034 Split-Hand/foot Malformation 4 20 1.928
91
c THY063 Thyroid Dyshormonogenesis 4 20 1.928
92
MTC087 Mitochondrial Complex Iii Deficiency, Nuclear Type 4 19 1.928
93
c ERY032 Erythrocytosis, Familial, 4 16 1.928
94
c OST121 Osteogenesis Imperfecta, Type Iv 48 1.921
95
c ACH025 Achromatopsia-4 33 1.921
96
c CTR113 Cataract 11, Multiple Types 31 1.921
97
RSS025 Ras-Associated Autoimmune Leukoproliferative Disorder 41 1.917
98
BLC008 Bile Acid Synthesis Defect, Congenital, 2 38 1.917
99
c DBT056 Diabetes Mellitus, Insulin-Dependent, 4 25 1.792
100
c INF087 Inflammatory Bowel Disease 4 40 1.781
101
c CRN215 Cornelia De Lange Syndrome 4 31 1.769
102
CND012 Cone Dystrophy 4 25 1.769
103
HYP531 Hypogonadotropic Hypogonadism 4 with or Without Anosmia 19 1.769
104
c CWD005 Cowden Syndrome 4 23 1.766
105
c DYS163 Dystonia 4, Torsion, Autosomal Dominant 22 1.766
106
c SPN215 Spondylocostal Dysostosis 4, Autosomal Recessive 22 1.766
107
c CLC037 Celiac Disease 4 20 1.766
108
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 37 1.762
109
c GLM033 Glomerulosclerosis, Focal Segmental, 4 30 1.762
110
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 29 1.762
111
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28 1.762
112
c NTR039 Neutropenia, Severe Congenital 4, Autosomal Recessive 27 1.762
113
c DMN019 Diamond-Blackfan Anemia 4 27 1.762
114
c CLR039 Colorectal Cancer, Hereditary Nonpolyposis, Type 4 27 1.762
115
c HYP576 Hypotrichosis 4 27 1.762
116
c THM014 Thiamine Metabolism Dysfunction Syndrome 4 26 1.762
117
c HML032 Hemolytic Uremic Syndrome, Atypical 4 26 1.762
118
c MYP080 Myopathy, Myofibrillar, 4 26 1.762
119
c ATR039 Atrial Fibrillation, Familial, 4 26 1.762
120
c MCK017 Meckel Syndrome 4 25 1.762
121
FGS004 Fg Syndrome 4 25 1.762
122
c EXD004 Exudative Vitreoretinopathy 4 24 1.762
123
c CRN143 Corneal Dystrophy, Fuchs Endothelial, 4 24 1.762
124
c ADM009 Adams-Oliver Syndrome 4 23 1.762
125
c HTR010 Heterotaxy, Visceral, 4, Autosomal 23 1.762
126
c GLL027 Gallbladder Disease 4 22 1.762
127
c DFN147 Deafness, X-Linked 4 22 1.762
128
c FRN045 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 22 1.762
129
c CND028 Candidiasis, Familial, 4, Autosomal Recessive 21 1.762
130
c ATR067 Atrioventricular Septal Defect 4 21 1.762
131
c MCL061 Macular Dystrophy, Vitelliform, 4 20 1.762
132
c PRR021 Perrault Syndrome 4 19 1.762
133
CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 18 1.762
134
c BSL032 Basal Ganglia Calcification, Idiopathic, 4 18 1.762
135
c FCL046 Focal Facial Dermal Dysplasia 4 17 1.762
136
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 1.762
137
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 16 1.762
138
c DWL004 Dowling-Degos Disease 4 15 1.762
139
c NNP012 Nanophthalmos 4 14 1.762
140
c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 24 1.758
141
c PLY121 Polydactyly, Preaxial, Type Iv 23 1.758
142
c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 20 1.758
143
EPL113 Epilepsy, Familial Temporal Lobe, 4 16 1.758
144
c ATM066 Autoimmune Polyendocrinopathy Type 4 14 1.758
145
c MLG093 Malignant Hyperthermia Susceptibility Type 4 9 1.758
146
c HLP013 Holoprosencephaly-4 39 1.754
147
c EPL094 Epilepsy, Juvenile Myoclonic 5 23 1.754
148
c DFN267 Deafness, Autosomal Dominant 4a 22 1.754
149
MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 18 1.754
150
c CTR111 Cataract 36 25 1.750
151
c RNG020 Ring Chromosome 4 32 1.647
152
c PNC103 Pancreatic Cancer 4 29 1.593
153
BRC074 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal Changes 25 1.586
154
c PCH011 Pachyonychia Congenita 4 22 1.586
155
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36 1.582
156
ENC036 Encephalopathy, Acute, Infection-Induced, 4 23 1.582
157
c PRC034 Preeclampsia/eclampsia 4 23 1.582
158
c FML270 Familial Cold Autoinflammatory Syndrome 4 20 1.582
159
c CRN221 Craniosynostosis 4 30 1.578
160
P ECT067 Ectodermal Dysplasia 4, Hair/nail Type 26 1.578
161
c CNG404 Congenital Heart Defects, Multiple Types, 4 26 1.578
162
c MCR133 Microvascular Complications of Diabetes 4 26 1.578
163
CNZ005 Coenzyme Q10 Deficiency, Primary, 4 25 1.578
164
c NPH047 Nephrotic Syndrome, Type 4 25 1.578
165
c PGM022 Pigmented Nodular Adrenocortical Disease, Primary, 4 23 1.578
166
c CRD167 Cardiofaciocutaneous Syndrome 4 23 1.578
167
c HRS029 Hirschsprung Disease 4 22 1.578
168
c EPS037 Episodic Ataxia, Type 4 22 1.578
169
CRD192 Cardioencephalomyopathy, Fatal Infantile, Due to Cytochrome C Oxidase Deficiency 4 22 1.578
170
IMM035 Immunodeficiency, Common Variable, 4 21 1.578
171
c ATX033 Ataxia-Oculomotor Apraxia 4 20 1.578
172
PLM141 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 18 1.578
173
FNC051 Fanconi Renotubular Syndrome 4, with Maturity-Onset Diabetes of the Young 16 1.578
174
PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 10 1.578
175
c INF157 Infection-Induced Acute Encephalopathy 4, Susceptibility 10 1.578
176
P RFS001 Refsum Disease 63 1.574
177
c CTR141 Cataract 21, Multiple Types 37 1.574
178
STX004 Stxbp1 Encephalopathy with Epilepsy 19 1.574
179
PGT006 Paget Disease of Bone 4 17 1.574
180
c SPN363 Spinocerebellar Ataxia, X-Linked 4 15 1.574
181
RST015 Restless Legs Syndrome 4 14 1.574
182
c NYS005 Nystagmus 4, Congenital, Autosomal Dominant 14 1.574
183
c CNG405 Congenital Pulmonary Airway Malformation Type 4 10 1.574
184
c AML020 Amelogenesis Imperfecta, Type Iv 33 1.570
185
c BRT035 Bartter Syndrome, Type 4a 33 1.570
186
c ALB019 Albinism, Oculocutaneous, Type Iv 32 1.570
187
ANN001 Anonychia Congenita 31 1.570
188
c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 27 1.570
189
c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 26 1.570
190
c DYS168 Dyserythropoietic Anemia, Congenital, Type Iv 25 1.570
191
GRY002 Gray Platelet Syndrome 55 1.565
192
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 32 1.565
193
c 3MT019 3-Methylglutaconic Aciduria, Type Iv 30 1.565
194
c CRD107 Cardiomyopathy, Dilated, 1r 27 1.565
195
PND003 Pendred Syndrome/dfnb4 15 1.565
196
P MCL013 Mucolipidosis Iv 62 1.389
197
c ATP017 Atopic Dermatitis 4 16 1.378
198
c OVR107 Ovarian Dysgenesis 4 22 1.374
199
KLP011 Klippel-Feil Syndrome 4, Autosomal Recessive, with Myopathy and Facial Dysmorphism 20 1.374
200
P ATS268 Autism X-Linked 4 23 1.370
201
c THY100 Thyroid Cancer, Nonmedullary, 4 17 1.370
202
c MJR004 Major Affective Disorder 4 16 1.370
203
c KLL006 Kallmann Syndrome 4 15 1.370
204
c CTR146 Cataract, Autosomal Dominant Congenital 4 11 1.370
205
c FML338 Familial Juvenile Hyperuricemic Nephropathy 4 11 1.370
206
c DST026 Distal Spinal Muscular Atrophy 4 10 1.370
207
c SPN124 Spondylocostal Dysostosis 4 10 1.370
208
c OVR076 Ovarian Dysgenesis 2 31 1.366
209
CRD169 Ceroid Lipofuscinosis, Neuronal, 4, Parry Type 26 1.366
210
c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 23 1.366
211
CMP040 Complement Component 4, Partial Deficiency of 18 1.366
212
c NRC012 Narcolepsy 4 17 1.366
213
c LPR016 Leprosy 4 15 1.366
214
c LNG065 Lung Cancer Susceptibility 4 13 1.366
215
c KRT041 Keratoconus 4 13 1.366
216
c VSC040 Vesicoureteral Reflux 4 13 1.366
217
c GLM019 Glioma Susceptibility 4 12 1.366
218
c SPC015 Specific Language Impairment 4 11 1.366
219
c OTS008 Otosclerosis 4 11 1.366
220
c ORF023 Orofacial Cleft 4 11 1.366
221
GTS002 Gout Susceptibility 4 11 1.366
222
PRK054 Prok2-Related Isolated Gonadotropin-Releasing Hormone Deficiency 9 1.366
223
c SPN296 Spinocerebellar Ataxia 17 48 1.361
224
c SYN061 Syndactyly, Type Iv 37 1.361
225
c CRD155 Cardiomyopathy, Dilated, 1kk 27 1.361
226
CHR248 Chromosome 4p Duplication 17 1.361
227
c SLC023 Slc4a1-Related Spherocytosis 15 1.361
228
c HYP708 Hyperaldosteronism, Familial, Type Iv 14 1.361
229
c TPM004 Tpm2-Related Nemaline Myopathy 11 1.361
230
TNF007 Tnfrsf13c-Related Common Variable Immune Deficiency 9 1.361
231
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 9 1.361
232
IRK001 Irak4 Deficiency 44 1.355
233
TKL001 Tukel Syndrome 34 1.355
234
SHR098 Short-Rib Thoracic Dysplasia 12 25 1.355
235
OVL004 Ovalocytosis, Hereditary Hemolytic 25 1.355
236
ACR108 Acrocephalopolysyndactyly Type Iv 16 1.355
237
GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 14 1.355
238
c CRN175 Coronary Heart Disease 4 19 1.205
239
ATM055 Autoimmune Disease 4 15 1.196
240
c HYP595 Hypertension, Essential 69 1.158
241
c WRD010 Waardenburg Syndrome Type 4 29 1.156
242
c MLT095 Multiple Sclerosis 4 16 1.143
243
c SYS051 Systemic Lupus Erythematosus 4 20 1.132
244
c BSL027 Basal Cell Carcinoma 4 15 1.132
245
c OPT059 Optic Atrophy 4 17 1.128
246
c NRB011 Neuroblastoma 4 17 1.128
247
P NRF002 Neurofibromatosis 71 1.124
248
c TRC101 Trichothiodystrophy 4, Nonphotosensitive 28 1.124
249
c DYS137 Dystonia 4 18 1.124
250
CNR015 Cone-Rod Dystrophy 4 13 1.124
251
c ART131 Arthrogryposis, Distal, Type 4 12 1.124
252
P PNC112 Pancreatic Cancer Susceptibility 4 12 1.124
253
c KLP015 Klippel-Feil Syndrome 4 9 1.124
254
ARR007 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 4 7 1.124
255
c MCP004 Mucopolysaccharidosis Iv 60 1.119
256
P MLT007 Multiple Epiphyseal Dysplasia 50 1.119
257
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 48 1.119
258
ADR043 Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency 34 1.119
259
BLC007 Bile Acid Synthesis Defect, Congenital, 1 30 1.119
260
JBR007 Joubert Syndrome with Renal Anomalies 28 1.119
261
c BRT024 Bartter Syndrome Type 4 19 1.119
262
c BLR025 Biliary Cirrhosis, Primary, 4 15 1.119
263
SYN037 Synpolydactyly, 3/3'4, Associated with Metacarpal and Metatarsal Synostoses 14 1.119
264
MGR023 Migraine Without Aura 4 14 1.119
265
c ATM058 Autoimmune Thyroid Disease 4 14 1.119
266
c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 13 1.119
267
c GST099 Gastric Neuroendocrine Tumor Type 4 11 1.119
268
P HYP653 Hypospadias 4, X-Linked 10 1.119
269
c HS7001 Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive 10 1.119
270
c ANR022 Aneurysm, Intracranial Berry, 4 10 1.119
271
c SZR011 Seizures, Benign Familial Infantile, 4 9 1.119
272
c ART108 Aortic Aneurysm, Familial Abdominal, 4 9 1.119
273
P LRY049 Laryngotracheoesophageal Cleft Type 4 9 1.119
274
c AST034 Asthma-Related Traits 4 8 1.119
275
c PYL010 Pyloric Stenosis, Infantile Hypertrophic, 4 8 1.119
276
c FTL034 Fetal Hemoglobin Quantitative Trait Locus 4 7 1.119
277
c PRM180 Primary Familial Brain Calcification 4 6 1.119
278
c STT039 Stuttering, Familial Persistent, 4 6 1.119
279
c MTR062 Maternal Uniparental Disomy of Chromosome 4 5 1.119
280
c ATS043 Autism Susceptibility, X-Linked 4 5 1.119
281
MTC097 Mitochondrial Complex Iv Deficiency 51 1.113
282
P HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 40 1.113
283
c STC012 Stickler Syndrome, Type Iv 26 1.113
284
c CHR601 Charcot-Marie-Tooth Disease Type 4k 19 1.113
285
HRP029 Herpes Simplex Encephalitic 6 14 1.113
286
c STX001 Setx-Related Amyotrophic Lateral Sclerosis 13 1.113
287
c MLT031 Multiple Epiphyseal Dysplasia, Recessive 12 1.113
288
c NPH040 Nphp1-Related Joubert Syndrome 11 1.113
289
c SLC015 Slc40a1-Related Hereditary Hemochromatosis 11 1.113
290
c SYN034 Syne1-Related Emery-Dreifuss Muscular Dystrophy 10 1.113
291
c ACV001 Acvr2b-Related Visceral Heterotaxy 9 1.113
292
c RD2001 Rad21-Related Cornelia De Lange Syndrome 9 1.113
293
c CSF002 Csf2ra-Related Pulmonary Surfactant Metabolism Dysfunction 9 1.113
294
c SS1001 Sos1-Related Noonan Syndrome 8 1.113
295
c RPS004 Rps17-Related Diamond-Blackfan Anemia 8 1.113
296
c ERF001 Erf-Related Craniosynostosis 8 1.113
297
c MYH005 Myh11-Related Thoracic Aortic Aneurysms and Aortic Dissections 8 1.113
298
CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 40 1.106
299
c FNC042 Fanconi Anemia, Complementation Group D2 37 1.106
300
c MLT128 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 35 1.106
301
c ALB017 Albinism, Oculocutaneous, Type Vi 28 1.106
302
c CTR134 Cataract 23 27 1.106
303
c ICH044 Ichthyosis, Congenital, Autosomal Recessive 8 23 1.106
304
MTC100 Metacarpal 4-5 Fusion 18 1.106
305
c TGF005 Tgif1-Related Holoprosencephaly 9 1.106
306
CHR325 Chrna2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant 5 1.106
307
P PRS040 Prostate Cancer 90 0.988
308
P OBS005 Obesity 92 0.973
309
WLF002 Wolf-Hirschhorn Syndrome 49 0.883
310
c RNL034 Renal Cell Carcinoma 4 18 0.828
311
MSC087 Mosaic Trisomy 4 5 0.808
312
ICH020 Ichthyosis Prematurity Syndrome 38 0.804
313
c BRC101 Brachyolmia 4 11 0.804
314
c JBR020 Joubert Syndrome 1 60 0.798
315
LG4001 Lig4 Syndrome 52 0.798
316
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 49 0.798
317
c PRX057 Peroxisome Biogenesis Disorder 4a 25 0.798
318
MYM012 Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 15 0.798
319
c ZYG005 Zygodactyly Type 4 8 0.798
320
c RNL049 Renal Tubular Acidosis, Distal, Type 4 8 0.798
321
c FML112 Familial Cerebral Cavernous Malformation 4 6 0.798
322
c CHR162 Chiari Malformation Type 4 6 0.798
323
HRD119 Hereditary Inclusion Body Myopathy Type 4 6 0.798
324
DFN043 Dfna 4 Nonsyndromic Hearing Loss and Deafness 4 0.798
325
c PTT028 Potter Syndrome Type 4 4 0.798
326
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 45 0.791
327
c SPN330 Spondylocostal Dysostosis 5 38 0.791
328
c IRD008 Iridogoniodysgenesis, Type 2 29 0.791
329
EPM005 Epimerase Deficiency Galactosemia 27 0.791
330
CNG002 Congenital Bile Acid Synthesis Defect 25 0.791
331
c MNT152 Mental Retardation, Autosomal Dominant 16 21 0.791
332
EXF006 Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-Like 19 0.791
333
CHR247 Chromosome 4p Deletion 18 0.791
334
TGF006 Tgfb2-Related Loeys-Dietz Syndrome 18 0.791
335
GST087 Gastric Linitis Plastica 16 0.791
336
c BBS006 Bbs4-Related Bardet-Biedl Syndrome 14 0.791
337
c CLM002 Calm1-Related Catecholaminergic Polymorphic Ventricular Tachycardia 11 0.791
338
c KCN002 Kcne2-Related Familial Atrial Fibrillation 8 0.791
339
CQ8001 Coq8a-Related Coenzyme Q10 Deficiency 7 0.791
340
DFN220 Dfnx4 Nonsyndromic Hearing Loss and Deafness 6 0.791
341
LHX002 Lhx4-Related Combined Pituitary Hormone Deficiency 6 0.791
342
CHR250 Chromosome 4q Duplication 6 0.791
343
SVR066 Severe Combined Immunodeficiency, X-Linked 57 0.782
344
c SPN294 Spinocerebellar Ataxia 1 55 0.782
345
P HTR015 Heterotopia, Periventricular 46 0.782
346
P HYP032 Hyperlipoproteinemia Type Iv 34 0.782
347
MLS013 Miles-Carpenter Syndrome 28 0.782
348
c SPS152 Spastic Paraplegia 51, Autosomal Recessive 27 0.782
349
c SYN060 Syndactyly, Type Iii 27 0.782
350
c HRD186 Hereditary Spastic Paraplegia 51 25 0.782
351
c DYS121 Dyslexia 1 23 0.782
352
CHR399 Chromosome 4q21 Deletion Syndrome 22 0.782
353
c HTR007 Heterotopia, Periventricular, Ed Variant 20 0.782
354
FCL047 Facial Clefting, Oblique, 1 17 0.782
355
P FML153 Familial Wilms Tumor 17 0.782
356
MLS002 Miles-Carpenter X-Linked Mental Retardation Syndrome 17 0.782
357
GBM001 Gaba Aminotransferase Deficiency 16 0.782
358
c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 15 0.782
359
HYD031 Hydroxyprolinemia 12 0.782
360
c MYP109 Mypn-Related Cardiomyopathy 11 0.782
361
OBS043 Obesity Bmiq4 11 0.782
362
SPN171 Spinocerebellar Ataxia Type17 11 0.782
363
c RTL001 Rtel1-Related Dyskeratosis Congenita 9 0.782
364
c ATS003 Autosomal Recessive Type Iv Ehlers-Danlos Syndrome 8 0.782
365
c ABC020 Abcc4-Related Altered Drug Metabolism 8 0.782
366
c MYP115 Mypn-Related Familial Restrictive Cardiomyopathy 8 0.782
367
BST005 Bustos Simosa Pinto Cisternas Syndrome 8 0.782
368
c CNG150 Congenital Hypothyroidism, Iyd-Related 7 0.782
369
PLY094 Polysyndactyly, Bilateral 6 0.782
370
PLY095 Polysyndactyly, Unilateral 6 0.782
371
PFF002 Pfeiffer Kapferer Syndrome 5 0.782
372
P HPT021 Hepatitis 69 0.173
373
END072 Endotheliitis 42 0.165
374
P LKM002 Leukemia 71 0.157
375
P BRS047 Breast Cancer 100 0.140
376
PRS047 Prostatitis 56 0.128
377
c HPT001 Hepatitis C 68 0.124
378
c HPT073 Hepatitis C Virus 73 0.114
379
P ART022 Arthritis 75 0.112
380
P AST005 Asthma 82 0.107
381
P LNG032 Lung Cancer 95 0.104
382
P LYM118 Lymphoma 69 0.100
383
c HPT003 Hepatitis a 59 0.100
384
P RHM011 Rheumatoid Arthritis 89 0.100
385
P LVR013 Liver Disease 75 0.099
386
c VRL010 Viral Hepatitis 60 0.098
387
P PNC044 Pancreatitis 61 0.096
388
P ADN016 Adenocarcinoma 69 0.096
389
NRN002 Neuronitis 41 0.095
390
c HPT016 Hepatitis B 64 0.092
391
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 54 0.091
392
SQM006 Squamous Cell Carcinoma 70 0.091
393
P CLR023 Colorectal Cancer 97 0.090
394
P NRB001 Neuroblastoma 70 0.089
395
P KDN018 Kidney Disease 66 0.086
396
P HPT023 Hepatocellular Carcinoma 92 0.084
397
P RNL014 Renal Cell Carcinoma 82 0.084
398
P OVR042 Ovarian Cancer 76 0.080
399
VRL011 Viral Infectious Disease 55 0.080
400
MLN008 Melanoma 62 0.079
401
CRB009 Cerebritis 39 0.079
402
ALR002 Al-Raqad Syndrome 36 0.079
403
P MLT019 Multiple Myeloma 83 0.077
404
GST053 Gastric Cancer 78 0.077
405
SRC014 Sarcoma 66 0.077
406
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.076
407
RTN023 Retinitis 50 0.075
408
HPT074 Hepatic Adenoma, Somatic 50 0.075
409
HNM002 Hinman Syndrome 25 0.075
410
P MYL006 Myeloid Leukemia 66 0.075
411
HYP266 Hypoxia 56 0.075
412
P THY032 Thyroiditis 54 0.075
413
P LYM026 Lymphoblastic Leukemia 62 0.071
414
PRT037 Pertussis 64 0.070
415
ADM013 Adamantinoma of Long Bones 57 0.070
416
P PNC035 Pancreatic Cancer 87 0.069
417
P MYC007 Myocardial Infarction 79 0.068
418
ART111 Artery Disease 55 0.068
419
P INF038 Influenza 72 0.068
420
P CRV039 Cervicitis 45 0.066
421
P THR014 Thrombocytopenia 64 0.065
422
P SCH015 Schizophrenia 77 0.064
423
P CRN211 Coronary Artery Disease 74 0.064
424
HV1006 Hiv-1 80 0.063
425
TTN003 Tetanus 61 0.063
426
P PNM007 Pneumonia 68 0.062
427
P EPL164 Epilepsy 66 0.062
428
DRM006 Dermatitis 66 0.062
429
ATP002 Atopy 66 0.062
430
DMN002 Dementia 65 0.062
431
P ESP024 Esophagitis 61 0.062
432
DPH001 Diphtheria 59 0.062
433
c AST037 Asthma 1 28 0.062
434
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.061
435
P HRT032 Heart Disease 75 0.061
436
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.061
437
c CHR090 Chronic Lymphocytic Leukemia 76 0.060
438
CLT003 Colitis 60 0.060
439
GLC008 Glucose Metabolism Disease 42 0.060
440
c AST039 Asthma 2 28 0.060
441
AND005 Androgen Insensitivity Syndrome, Mild 16 0.060
442
c CHR089 Chronic Kidney Failure 66 0.059
443
P INF037 Inflammatory Bowel Disease 63 0.059
444
ISC004 Ischemia 61 0.059
445
P GLM045 Glioma 60 0.059
446
c CHR020 Chronic Interstitial Cystitis 41 0.059
447
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.058
448
IMP003 Impaired Renal Function Disease 34 0.058
449
P PRD008 Periodontitis 63 0.057
450
c HPT007 Hepatitis E 54 0.057
451
ATH003 Atherosclerosis 65 0.056
452
P BCL006 B-Cell Lymphomas 65 0.056
453
P ATP001 Atopic Dermatitis 62 0.056
454
LPD008 Lipid Metabolism Disorder 58 0.056
455
P ATX004 Ataxia 53 0.056
456
URN009 Urinary System Disease 50 0.056
457
P URF003 Urofacial Syndrome 1 50 0.056
458
ATN002 Autonomic Nervous System Disease 48 0.056
459
HPR003 Heparin-Induced Thrombocytopenia 45 0.056
460
P RHN004 Rhinitis 60 0.055
461
THR024 Thrombosis 57 0.055
462
SBS003 Substance Abuse 54 0.055
463
LNG099 Lung Disease 64 0.054
464
PNC041 Pancreatic Ductal Adenocarcinoma 64 0.054
465
P NRM001 Neuromyelitis Optica 60 0.054
466
P ENC018 Encephalopathy 59 0.054
467
ALL026 Allergic Hypersensitivity Disease 52 0.054
468
BRN038 Bronchial Disease 51 0.054
469
P GLB002 Glioblastoma 68 0.053
470
P PLY011 Polycystic Ovary Syndrome 65 0.053
471
P LPS004 Lupus Erythematosus 64 0.053
472
MTH009 Mouth Disease 61 0.053
473
PLM031 Poliomyelitis 60 0.053
474
HMP009 Haemophilus Influenzae 45 0.053
475
ALL003 Allergic Rhinitis 63 0.052
476
P NRP001 Neuropathy 59 0.052
477
P CTR002 Cataract 58 0.052
478
PRM025 Primary Bacterial Infectious Disease 41 0.052
479
WTH001 Withdrawal Disorder 37 0.052
480
MDY003 Mody, Type Ii 36 0.052
481
c DBT035 Diabetes Mellitus, Noninsulin-Dependent 1 25 0.052
482
ATM052 Autoimmune Disease 1 25 0.052
483
P MYP004 Myopathy 67 0.051
484
c ACT073 Acute Leukemia 60 0.051
485
RSP006 Respiratory System Disease 58 0.051
486
P RNL017 Renal Oncocytoma 47 0.051
487
BNS002 Bone Structure Disease 37 0.051
488
c SYS001 Systemic Lupus Erythematosus 86 0.049
489
P CRD011 Cardiomyopathy 68 0.049
490
LVR012 Liver Cirrhosis 67 0.049
491
SKN016 Skin Disease 66 0.049
492
EYD002 Eye Disease 61 0.049
493
P CLR108 Colorectal Adenoma 60 0.049
494
P PLY014 Polycystic Kidney Disease 53 0.049
495
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.049
496
DRG001 Drug Psychosis 38 0.049
497
NTR005 Nutritional Deficiency Disease 36 0.049
498
ATM053 Autoimmune Disease 2 16 0.049
499
TBR010 Tuberculosis 70 0.048
500
CHR177 Chromophobe Renal Cell Carcinoma 56 0.048
501
MCS002 Mucositis 55 0.048
502
BLD054 Blood Protein Disease 37 0.048
503
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36 0.048
504
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 21 0.048
505
P ALZ034 Alzheimer Disease 92 0.047
506
MLR004 Malaria 83 0.047
507
ULC004 Ulcerative Colitis 76 0.047
508
P MSC005 Muscular Dystrophy 65 0.047
509
CNN005 Connective Tissue Disease 62 0.047
510
ALL006 Allergic Asthma 58 0.047
511
EPD016 Epidermolysis Bullosa 57 0.047
512
PRP019 Peripheral Nervous System Disease 55 0.047
513
BRN004 Brain Edema 52 0.047
514
HMN014 Human Immunodeficiency Virus Infectious Disease 50 0.047
515
TNP003 Tn Polyagglutination Syndrome, Somatic 41 0.047
516
P MDL005 Medulloblastoma 77 0.046
517
HDG012 Hodgkin Lymphoma 77 0.046
518
P RTN024 Retinoblastoma 74 0.046
519
PLM129 Pulmonary Disease, Chronic Obstructive 63 0.046
520
P GST049 Gastrointestinal System Cancer 60 0.046
521
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.046
522
ADN018 Adenoma 58 0.046
523
ETH011 Ethylmalonic Encephalopathy 56 0.046
524
CCN002 Cocaine Abuse 48 0.046
525
SPS057 Spasticity 42 0.046
526
P OST012 Osteoarthritis 83 0.045
527
SQM013 Squamous Cell Carcinoma, Head and Neck 70 0.045
528
P CNJ013 Conjunctivitis 64 0.045
529
HYP056 Hypoglycemia 61 0.045
530
c ACT075 Acute Myocardial Infarction 60 0.045
531
ACQ007 Acquired Immunodeficiency Syndrome 60 0.045
532
P NRV006 Nervous System Cancer 60 0.045
533
P HYP069 Hyperparathyroidism 58 0.045
534
ORL015 Oral Squamous Cell Carcinoma 57 0.045
535
END030 End Stage Renal Failure 55 0.045
536
P SPS003 Spastic Diplegia 52 0.045
537
NSD001 Nose Disease 48 0.045
538
ALB002 Albinism 46 0.045
539
SKN027 Skin Conditions 43 0.045
540
c HYP073 Hypersensitivity Reaction Type Iv Disease 43 0.045
541
TTR016 Tetra-Amelia Syndrome 36 0.045
542
EWN003 Ewing Sarcoma 66 0.044
543
P KDN017 Kidney Cancer 65 0.044
544
P ART023 Arthropathy 64 0.044
545
PRM097 Primary Immunodeficiency Disease 60 0.044
546
P INF032 Infertility 59 0.044
547
PLS009 Plasma Cell Neoplasm 48 0.044
548
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.044
549
AYM001 Ayme-Gripp Syndrome 41 0.044
550
HPT070 Hepatosplenic T-Cell Lymphoma 39 0.044
551
ADP007 Adie Pupil 34 0.044
552
THY028 Thyroid Cancer 69 0.042
553
P MNN013 Meningitis 67 0.042
554
LYM115 Lymphoma, Non-Hodgkin 63 0.042
555
RNL101 Renal Cell Carcinoma, Papillary 63 0.042
556
BRS051 Breast Disease 61 0.042
557
c HPT015 Hepatitis D 52 0.042
558
MYL001 Myelitis 51 0.042
559
SBS004 Substance Dependence 47 0.042
560
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.042
561
ESP021 Esophageal Cancer 76 0.041
562
END057 Endometrial Cancer 75 0.041
563
CNG034 Congestive Heart Failure 72 0.041
564
P LKM068 Leukemia, Chronic Myeloid, Somatic 68 0.041
565
P PSR002 Psoriasis 61 0.041
566
P DRR001 Diarrhea 60 0.041
567
BNC003 Bone Cancer 58 0.041
568
ANR040 Aneurysm 57 0.041
569
P ACT074 Acute Lymphocytic Leukemia 56 0.041
570
P OCL002 Oculocutaneous Albinism 54 0.041
571
SML033 Small Cell Cancer of the Lung, Somatic 54 0.041
572
SPN051 Spondylitis 51 0.041
573
DRG003 Drug Dependence 50 0.041
574
P TCL004 T-Cell Leukemia 47 0.041
575
ACD009 Acid-Labile Subunit, Deficiency of 45 0.041
576
CRH001 Crohn's Disease 75 0.039
577
P AST007 Astrocytoma 65 0.039
578
RHM027 Rheumatic Disease 58 0.039
579
GST033 Gestational Diabetes 57 0.039
580
P HMR003 Hemorrhagic Disease 57 0.039
581
SKN023 Skin Tag 44 0.039
582
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 38 0.039
583
ADJ001 Adjustment Disorder 38 0.039
584
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.039
585
GLB003 Globe Disease 32 0.039
586
P PLM037 Pulmonary Hypertension 79 0.038
587
MYL009 Myelodysplastic Syndrome 73 0.038
588
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.038
589
P HRP006 Herpes Simplex 65 0.038
590
P OST002 Osteoporosis 64 0.038
591
MSL001 Measles 61 0.038
592
P MTR004 Maturity-Onset Diabetes of the Young 58 0.038
593
ORL011 Oral Cancer 56 0.038
594
NRM005 Neuromuscular Disease 56 0.038
595
GST050 Gastrointestinal System Disease 56 0.038
596
JNT002 Joint Disorders 55 0.038
597
STM006 Stomach Disease 50 0.038
598
CLF001 Cleft Lip 50 0.038
599
P CLL015 Collagen Disease 50 0.038
600
CSY001 C Syndrome 50 0.038
601
PRP016 Paraplegia 49 0.038
602
c CHR418 Chronic Leukemia 47 0.038
603
GLT021 Glutaricaciduria, Type I 46 0.038
604
P BLD051 Blood Coagulation Disease 42 0.038
605
NSP002 Nasopharyngitis 40 0.038
606
MRG013 Mirage Syndrome 29 0.038
607
c CRN172 Coronary Heart Disease 3 19 0.038
608
P HNT016 Huntington Disease 80 0.037
609
GST019 Gastrointestinal Stromal Tumor 73 0.037
610
PHN003 Phenylketonuria 72 0.037
611
P NRV007 Nervous System Disease 71 0.037
612
TST021 Testicular Germ Cell Tumor 69 0.037
613
PRP027 Peripheral Vascular Disease 68 0.037
614
DFC004 Deficiency Anemia 64 0.037
615
CTN007 Cutaneous Leishmaniasis 62 0.037
616
P HYP117 Hypertriglyceridemia 61 0.037
617
GST045 Gastroenteritis 59 0.037
618
P GRV001 Graves' Disease 59 0.037
619
FTT001 Fatty Liver Disease 59 0.037
620
P MLT074 Multiple Endocrine Neoplasia 56 0.037
621
P LYM033 Lymphoproliferative Syndrome 56 0.037
622
P LPD010 Lipodystrophy 55 0.037
623
P RTN016 Retinal Degeneration 54 0.037
624
c PND001 Pain Disorder 54 0.037
625
P LRY019 Laryngitis 54 0.037
626
KDS001 Kid Syndrome 53 0.037
627
P LTR001 Lateral Sclerosis 53 0.037
628
RTN018 Retinal Disease 53 0.037
629
SPN041 Spinal Cord Disease 51 0.037
630
CLN019 Colonic Disease 51 0.037
631
OPT003 Opiate Dependence 50 0.037
632
P JNC001 Junctional Epidermolysis Bullosa 49 0.037
633
LPD004 Lipoid Nephrosis 48 0.037
634
P FML035 Familial Hyperlipidemia 48 0.037
635
PRP021 Peripheral Nervous System Neoplasm 46 0.037
636
P HYP087 Hypotrichosis 46 0.037
637
MNN020 Meningococcal Infection 43 0.037
638
RTR008 Root Resorption 42 0.037
639
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 41 0.037
640
SPN369 Spinal Disease 39 0.037
641
GRM001 Germ Cell and Embryonal Cancer 36 0.037
642
VSC008 Vascular Hemostatic Disease 30 0.037
643
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.037
644
PRM243 Primary Bone Cancer 29 0.037
645
P CRN178 Coronary Heart Disease 6 21 0.037
646
ATM054 Autoimmune Disease 3 15 0.037
647
CYS001 Cystic Fibrosis 83 0.035
648
P HMC003 Hemochromatosis 72 0.035
649
ATT013 Attention Deficit-Hyperactivity Disorder 69 0.035
650
PCK002 Pick Disease 68 0.035
651
VSC007 Vascular Disease 67 0.035
652
P NSP012 Nasopharyngeal Carcinoma 66 0.035
653
P PLR004 Pleuropulmonary Blastoma 65 0.035
654
GLB015 Glioblastoma Multiforme 63 0.035
655
PRT036 Peritonitis 63 0.035
656
ACN011 Acne 62 0.035
657
P NPH012 Nephrotic Syndrome 59 0.035
658
PRP030 Purpura 58 0.035
659
P MCR010 Microcephaly 58 0.035
660
CHL071 Child Syndrome 58 0.035
661
TTH006 Tooth Disease 52 0.035
662
LYM024 Lymphatic System Disease 52 0.035
663
VSC006 Vascular Cancer 51 0.035
664
ATR060 Atrial Standstill, Digenic 51 0.035
665
ALL009 Allergic Conjunctivitis 51 0.035
666
BNM001 Bone Marrow Cancer 51 0.035
667
MVM001 Movement Disease 49 0.035
668
VND001 Vein Disease 47 0.035
669
DWR001 Dwarfism 47 0.035
670
BLD053 Blood Platelet Disease 46 0.035
671
INC022 Inclusion-Cell Disease 46 0.035
672
CRD118 Cardiovascular Cancer 44 0.035
673
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.035
674
MSC004 Muscle Tissue Disease 34 0.035
675
IMM071 Immunodeficiency 12 26 0.035
676
P HYP607 Hypercholesterolemia, Familial 76 0.033
677
c LKM061 Leukemia, Acute Myeloid 73 0.033
678
SVR004 Severe Combined Immunodeficiency 69 0.033
679
MLD001 Melioidosis 67 0.033
680
P END044 Endometriosis 66 0.033
681
MYC006 Mycosis Fungoides 66 0.033
682
LSH001 Leishmaniasis 66 0.033
683
P CRB042 Cerebellar Ataxia 63 0.033
684
P ENC004 Encephalitis 63 0.033
685
GNG013 Gingivitis 61 0.033
686
ALC006 Alcoholic Hepatitis 59 0.033
687
P HRM001 Hermansky-Pudlak Syndrome 59 0.033
688
P NTR004 Neutropenia 59 0.033
689
P HMP007 Hemophilia 57 0.033
690
CTS003 Coats Disease 57 0.033
691
P SZR006 Seizure Disorder 56 0.033
692
PTT006 Pituitary Adenoma 56 0.033
693
NRN004 Neuroendocrine Tumor 56 0.033
694
P ECL001 Eclampsia 54 0.033
695
LYM019 Lymphosarcoma 53 0.033
696
GST040 Gastric Adenocarcinoma 52 0.033
697
P PRM006 Primary Biliary Cirrhosis 51 0.033
698
DBT084 Diabetes Mellitus, Ketosis-Prone 47 0.033
699
HRT007 Heart Cancer 46 0.033
700
CRN024 Corneal Disease 44 0.033
701
P SKN013 Skin Benign Neoplasm 43 0.033
702
c DBT040 Diabetes Mellitus, Insulin-Dependent, 2 43 0.033
703
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.033
704
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.033
705
RCT017 Rectal Disease 40 0.033
706
P HRT017 Heart Tumor 32 0.033
707
c CRN214 Coronary Heart Disease 5 22 0.033
708
HPD002 Hepadnavirus Infection 22 0.033
709
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 21 0.033
710
c CRN173 Coronary Heart Disease 8 18 0.033
711
c ADL079 Adult Heart Tumor 16 0.033
712
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 78 0.032
713
INS024 Insulin-Like Growth Factor I 75 0.032
714
c MCL042 Macular Degeneration, Age-Related, 1 73 0.032
715
KRT004 Keratitis 71 0.032
716
KWS002 Kawasaki Disease 70 0.032
717
P MYS003 Myasthenia Gravis 67 0.032
718
P ATR011 Atrial Fibrillation 66 0.032
719
c ADL017 Adult T-Cell Leukemia 60 0.032
720
c CNT035 Central Nervous System Disease 60 0.032
721
P ORL007 Oral Cavity Cancer 59 0.032
722
P HYP060 Hyperinsulinism 58 0.032
723
RHB003 Rhabdomyosarcoma 57 0.032
724
CNS004 Constipation 57 0.032
725
ALP008 Alopecia 57 0.032
726
HRY003 Hairy Cell Leukemia 57 0.032
727
WST001 West Syndrome 57 0.032
728
c PRC016 Pre-Eclampsia 56 0.032
729
P NPH005 Nephronophthisis 55 0.032
730
C3D001 C3 Deficiency 53 0.032
731
ADL002 Adult Syndrome 52 0.032
732
KRT006 Keratoconjunctivitis 52 0.032
733
P MSC033 Muscle Disorders 52 0.032
734
IMM136 Immune System Disease 51 0.032
735
SCK005 Sickle Cell Disease 51 0.032
736
NNL002 Nonalcoholic Steatohepatitis 50 0.032
737
P TRN034 Transverse Myelitis 49 0.032
738
c DWL002 Dowling-Degos Disease 1 49 0.032
739
CCN001 Cocaine Dependence 49 0.032
740
PRT030 Parathyroid Gland Disease 47 0.032
741
PLP001 Pulpitis 47 0.032
742
FBR054 Fibroma 46 0.032
743
c CLR085 Colorectal Cancer 1 45 0.032
744
P BRN120 Bronchus Cancer 44 0.032
745
P OSS001 Ossifying Fibroma 42 0.032
746
HMT018 Hematopoietic Stem Cell Transplantation 41 0.032
747
OPD001 Opioid Abuse 40 0.032
748
c ADL001 Adult Lymphoma 39 0.032
749
MNR003 Mineral Metabolism Disease 38 0.032
750
P HYP265 Hypotonia 38 0.032
751
ATM014 Autoimmune Disease of Endocrine System 36 0.032
752
MLR007 Male Reproductive System Disease 34 0.032
753
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.032
754
EYD001 Eye Degenerative Disease 30 0.032
755
c TRC078 Trichohepatoenteric Syndrome 2 29 0.032
756
P PLM036 Pulmonary Fibrosis 71 0.030
757
P RSP003 Respiratory Failure 71 0.030
758
BRN028 Brain Cancer 70 0.030
759
P FLL037 Follicular Lymphoma 70 0.030
760
ISC006 Ischemic Heart Disease 68 0.030
761
P TRN020 Turner Syndrome 65 0.030
762
P DYS154 Dystonia 65 0.030
763
c BSL007 Basal Cell Carcinoma 65 0.030
764
P THL005 Thalassemia 64 0.030
765
c LKM062 Leukemia, Acute Lymphoblastic 64 0.030
766
APH001 Aphthous Stomatitis 62 0.030
767
P SLP006 Sleep Apnea 61 0.030
768
OST017 Osteomyelitis 61 0.030
769
P SNS014 Sinusitis 60 0.030
770
P INT068 Intestinal Disease 60 0.030
771
CHL123 Chlamydia 60 0.030
772
BLL006 Bullous Pemphigoid 59 0.030
773
P SHR029 Short Syndrome 58 0.030
774
ART021 Arteriosclerosis 58 0.030
775
IRR002 Irritable Bowel Syndrome 58 0.030
776
PLM122 Pulmonary Hypertension, Familial Primary, 1, with or Without Hht 57 0.030
777
PNC033 Pancreas Adenocarcinoma 57 0.030
778
P OVR049 Ovarian Disease 56 0.030
779
PLS007 Plasmodium Falciparum Malaria 55 0.030
780
c THR092 Thrombophilia Due to Thrombin Defect 54 0.030
781
RCT018 Rectal Neoplasm 54 0.030
782
ESP023 Esophageal Disease 54 0.030
783
NWC001 Newcastle Disease 54 0.030
784
CND002 Conduct Disorder 54 0.030
785
DMY004 Demyelinating Disease 53 0.030
786
HYP080 Hypogonadism 53 0.030
787
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.030
788
LYS002 Lysosomal Storage Disease 52 0.030
789
c MLG068 Malignant Glioma 51 0.030
790
CLN015 Colon Adenocarcinoma 50 0.030
791
BNF002 Bone Fracture 50 0.030
792
PMP001 Pemphigus 50 0.030
793
RNL007 Renal Tubular Acidosis 50 0.030
794
GLM004 Gliomatosis Cerebri 49 0.030
795
LRN003 Learning Disability 49 0.030
796
c INH020 Inherited Metabolic Disorder 49 0.030
797
ACT017 Acute Chest Syndrome 48 0.030
798
c HMG001 Hemoglobin C Disease 47 0.030
799
c CLL013 Cell Type Cancer 46 0.030
800
ACR041 Acromelic Frontonasal Dysostosis 45 0.030
801
ALN001 Aland Island Eye Disease 45 0.030
802
c HRD026 Hereditary Ataxia 44 0.030
803
BRT030 Birth Defects 43 0.030
804
NSS002 Neisseria Meningitidis Infection 43 0.030
805
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.030
806
BND014 Bone Development Disease 40 0.030
807
SCN001 Secondary Hyperparathyroidism of Renal Origin 38 0.030
808
ACR002 Acrocapitofemoral Dysplasia 33 0.030
809
IMM068 Immunodeficiency 8 30 0.030
810
TYP027 Type 1 Diabetes Mellitus 10 27 0.030
811
IMM076 Immunodeficiency 24 27 0.030
812
c CRN174 Coronary Heart Disease 2 20 0.030
813
c RNL016 Renal Infectious Disease 20 0.030
814
c CRN177 Coronary Heart Disease 7 20 0.030
815
GLC077 Glucocorticoid Therapy, Response to 16 0.030
816
ART016 Aortic Aneurysm 69 0.028
817
ANX002 Anxiety Disorder 67 0.028
818
PSY004 Psychotic Disorder 67 0.028
819
PLM001 Pulmonary Tuberculosis 67 0.028
820
c HRD010 Hereditary Spastic Paraplegia 67 0.028
821
OBS061 Obstructive Sleep Apnea 66 0.028
822
DWN001 Down Syndrome 66 0.028
823
CRV047 Cervical Cancer, Somatic 65 0.028
824
P AMY004 Amyloidosis 65 0.028
825
HMT002 Hematologic Cancer 64 0.028
826
BRN024 Bronchitis 64 0.028
827
P HYP086 Hypothyroidism 64 0.028
828
P BRD002 Bardet-Biedl Syndrome 63 0.028
829
ALC007 Alcohol Dependence 63 0.028
830
P BPL003 Bipolar Disorder 62 0.028
831
P ALP009 Alopecia Areata 62 0.028
832
MDD011 Mood Disorder 61 0.028
833
P FCL005 Focal Segmental Glomerulosclerosis 60 0.028
834
MCR013 Microphthalmia 60 0.028
835
TNG009 Tongue Squamous Cell Carcinoma 59 0.028
836
OCL009 Ocular Cancer 59 0.028
837
INT066 Interstitial Lung Disease 59 0.028
838
P GLM007 Glomerulonephritis 59 0.028
839
P GT001 Gout 58 0.028
840
P MMP001 Mumps 58 0.028
841
P RBL001 Rubella 57 0.028
842
c ACT027 Acute Pancreatitis 57 0.028
843
PLY023 Polycystic Liver Disease 56 0.028
844
P MYC008 Myocarditis 54 0.028
845
P SYN001 Syndactyly 53 0.028
846
DSS008 Disease of Mental Health 52 0.028
847
KRT002 Keratomalacia 52 0.028
848
PRS042 Prostate Disease 52 0.028
849
APR001 Apraxia 51 0.028
850
P CHR345 Chronic Pain 50 0.028
851
OCL006 Ocular Hypertension 48 0.028
852
FML039 Female Reproductive System Disease 48 0.028
853
INT253 Intestinal Benign Neoplasm 47 0.028
854
CNJ012 Conjunctival Disease 44 0.028
855
LYM067 Lymphoid Leukemia 44 0.028
856
c CNG012 Congenital Generalized Lipodystrophy 44 0.028
857
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 43 0.028
858
SNS023 Sensory System Cancer 43 0.028
859
PLS016 Plasma Cell Leukemia 42 0.028
860
PRS021 Prostatic Adenoma 42 0.028
861
PRD011 Proud Syndrome 42 0.028
862
CLV009 Clove Syndrome, Somatic 41 0.028
863
RDN001 Reading Disorder 34 0.028
864
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 33 0.028
865
RFR004 Refractory Hematologic Cancer 28 0.028
866
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.028
867
SPN015 Spinal Polio 13 0.028
868
P RTN008 Retinitis Pigmentosa 80 0.026
869
MNT001 Mantle Cell Lymphoma 72 0.026
870
c MLT136 Multiple Endocrine Neoplasia 1 69 0.026
871
P LPR003 Leprosy 69 0.026
872
KPS004 Kaposi Sarcoma 67 0.026
873
OTT002 Otitis Media 66 0.026
874
AND015 Androgen Insensitivity 64 0.026
875
P HMP002 Hemophagocytic Lymphohistiocytosis 64 0.026
876
P PRM019 Premature Ovarian Failure 64 0.026
877
P HYP098 Hypereosinophilic Syndrome 63 0.026
878
c ATS347 Autosomal Dominant Polycystic Kidney Disease 62 0.026
879
P LNG064 Lung Cancer Susceptibility 3 62 0.026
880
P HML002 Hemolytic Anemia 62 0.026
881
VSC011 Vasculitis 62 0.026
882
GST092 Gastroesophageal Reflux 62 0.026
883
PLM033 Pulmonary Embolism 60 0.026
884
DFF005 Diffuse Large B-Cell Lymphoma 59 0.026
885
ETN001 Eating Disorder 58 0.026
886
URT039 Urticaria 57 0.026
887
SFT003 Soft Tissue Sarcoma 57 0.026
888
EXF001 Exfoliation Syndrome 57 0.026
889
SNS001 Sensorineural Hearing Loss 57 0.026
890
c MCR115 Microvascular Complications of Diabetes 5 57 0.026
891
MLN054 Melanocytic Nevus Syndrome, Congenital, Somatic 56 0.026
892
BRN002 Bronchiolitis 56 0.026
893
PHR003 Pharyngitis 56 0.026
894
VSC003 Visceral Leishmaniasis 56 0.026
895
P PLY006 Polydactyly 56 0.026
896
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.026
897
ERY003 Erythema Multiforme 55 0.026
898
P MNC007 Monocytic Leukemia 55 0.026
899
HDC001 Headache 54 0.026
900
SLP005 Sleep Disorder 53 0.026
901
P DBT005 Diabetes Insipidus 53 0.026
902
BRN106 Burns 52 0.026
903
OST015 Osteochondrodysplasia 52 0.026
904
CYT008 Cytomegalovirus Infection 52 0.026
905
P ICH004 Ichthyosis 52 0.026
906
NRT004 Neuritis 52 0.026
907
KRT009 Keratosis 52 0.026
908
CHC001 Chickenpox 51 0.026
909
CRN030 Coronary Stenosis 51 0.026
910
AMN001 Amenorrhea 50 0.026
911
FML038 Female Reproductive Organ Cancer 50 0.026
912
P MSC003 Muscular Atrophy 50 0.026
913
c ACT134 Acute Liver Failure 50 0.026
914
TMP001 Temporal Lobe Epilepsy 50 0.026
915
ANG054 Angina Pectoris 50 0.026
916
BCT015 Bacteremia 48 0.026
917
CRN017 Coronary Thrombosis 48 0.026
918
CHR005 Chorioamnionitis 48 0.026
919
DYS073 Dysphagia 48 0.026
920
P TRC086 Trichohepatoenteric Syndrome 1 48 0.026
921
BRN032 Brain Glioma 48 0.026
922
SPN035 Spindle Cell Sarcoma 47 0.026
923
ANG018 Angiomyolipoma 46 0.026
924
DNT012 Dental Caries 46 0.026
925
P PLN008 Peeling Skin Syndrome 45 0.026
926
PTT037 Pituitary Tumors 45 0.026
927
LKC003 Leukocyte Disease 43 0.026
928
c CHR064 Chronic Monocytic Leukemia 42 0.026
929
c WRD020 Waardenburg Syndrome, Type 4a 42 0.026
930
MCL003 Macular Holes 41 0.026
931
RPR002 Reproductive System Disease 41 0.026
932
BSL008 Basal Ganglia Disease 40 0.026
933
TNP001 Tinea Pedis 40 0.026
934
ATN003 Autonomic Nervous System Neoplasm 40 0.026
935
GND003 Gonadal Disease 39 0.026
936
PGM003 Pigmentation Disease 39 0.026
937
SXD001 Sex Differentiation Disease 38 0.026
938
VSC018 Visceral Steatosis 37 0.026
939
IMM065 Immunodeficiency 10 36 0.026
940
ATM012 Autoimmune Disease of Blood 35 0.026
941
ODN006 Odontoma 34 0.026
942
c BRN108 Branchiootic Syndrome 1 34 0.026
943
c HYP311 Hyperparathyroidism 3 33 0.026
944
c CLR080 Colorectal Cancer 5 32 0.026
945
c HMG004 Hemoglobin D Disease 31 0.026
946
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 31 0.026
947
c INF078 Inflammatory Bowel Disease 2 31 0.026
948
c CLR075 Colorectal Cancer 3 28 0.026
949
ATM059 Autoimmune Disease 6 22 0.026
950
RFR001 Refractory Plasma Cell Neoplasm 16 0.026
951
BNM008 Bone Mineral Density, Low 16 0.026
952
c DLT002 Dilated Cardiomyopathy 76 0.024
953
STR067 Stroke, Ischemic 75 0.024
954
P PHC003 Pheochromocytoma 71 0.024
955
MLT021 Multiple System Atrophy 70 0.024
956
P PRK057 Parkinson Disease, Late-Onset 70 0.024
957
P ALP004 Alport Syndrome 69 0.024
958
P SPN046 Spinal Muscular Atrophy 65 0.024
959
CNR002 Cone-Rod Dystrophy 64 0.024
960
PSR001 Psoriatic Arthritis 64 0.024
961
P PRT010 Parathyroid Carcinoma 63 0.024
962
P ADD001 Addison's Disease 62 0.024
963
P ASP006 Aspergillosis 61 0.024
964
P RCK004 Rickets 61 0.024
965
HPY002 H. Pylori Infection 61 0.024
966
KRT001 Keratoconjunctivitis Sicca 59 0.024
967
P ALC004 Alcohol Abuse 59 0.024
968
WLL006 Wells Syndrome 59 0.024
969
SYN007 Synovitis 58 0.024
970
LNN001 Lennox-Gastaut Syndrome 57 0.024
971
P EXN002 Exanthem 57 0.024
972
P HYP192 Hypocalcemia, Autosomal Dominant 56 0.024
973
P STR022 Stargardt Disease 56 0.024
974
P ANT006 Antiphospholipid Syndrome 56 0.024
975
c MLG077 Malignant Peripheral Nerve Sheath Tumor 56 0.024
976
c SVR003 Severe Congenital Neutropenia 56 0.024
977
PLM034 Pulmonary Emphysema 55 0.024
978
P SCL018 Scoliosis 55 0.024
979
P FNC043 Fanconi Anemia, Complementation Group E 55 0.024
980
MGK001 Megakaryocytic Leukemia 55 0.024
981
FCL014 Focal Epilepsy 55 0.024
982
EXT034 Extrinsic Allergic Alveolitis 54 0.024
983
P TRM003 Tremor 54 0.024
984
c BCT007 Bacterial Meningitis 54 0.024
985
PLN006 Poland Syndrome 54 0.024
986
END040 Endogenous Depression 53 0.024
987
CLR030 Clear Cell Renal Cell Carcinoma 53 0.024
988
MNT002 Mental Depression 53 0.024
989
OPT006 Optic Nerve Disease 52 0.024
990
CYS039 Cystic Kidney Disease 52 0.024
991
c PRK031 Parkinson Disease 1 51 0.024
992
DBT062 Diabetic Foot Ulcers 51 0.024
993
DCT002 Ductal Carcinoma in Situ 51 0.024
994
CLR109 Colorectal Adenocarcinoma 51 0.024
995
GRW007 Growth Hormone Deficiency 50 0.024
996
MCR004 Macroglobulinemia 50 0.024
997
DRY001 Dry Eye Syndrome 50 0.024
998
NCT008 Nicotine Dependence, Protection Against 49 0.024
999
ECT026 Ectopic Pregnancy 48 0.024
1000
P ENC008 Encephalocele 48 0.024
1001
SLP001 Sleeping Sickness 48 0.024
1002
SYS034 Systemic Onset Juvenile Idiopathic Arthritis 47 0.024
1003
SDD007 Sudden Cardiac Death 47 0.024
1004
SYN036 Syncope 47 0.024
1005
DBT006 Diabetic Macular Edema 47 0.024
1006
CRB025 Carbohydrate Metabolic Disorder 46 0.024
1007
ORL012 Oral Leukoplakia 46 0.024
1008
SKL014 Skeletal Dysplasia 46 0.024
1009
CRB004 Cerebral Artery Occlusion 45 0.024
1010
TCL003 T Cell Deficiency 45 0.024
1011
OST003 Osteonecrosis 45 0.024
1012
SPH010 Sphingolipidosis 45 0.024
1013
SKL017 Skeletal Dysplasias 45 0.024
1014
PLL012 Pollen Allergy 44 0.024
1015
GDS001 Good Syndrome 44 0.024
1016
CHR008 Choroiditis 44 0.024
1017
DYS018 Dysostosis 44 0.024
1018
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.024
1019
VGN023 Vaginitis 42 0.024
1020
SXL003 Sexual Disorder 42 0.024
1021
MNN032 Meningococcal Meningitis 42 0.024
1022
SPC010 Speech and Communication Disorders 41 0.024
1023
ADT003 Auditory System Disease 40 0.024
1024
LKP003 Leukoplakia 38 0.024
1025
PHS001 Phosphorus Metabolism Disease 38 0.024
1026
MLG088 Malignant Germ Cell Tumor 38 0.024
1027
CLP005 Ciliopathy 38 0.024
1028
BNR001 Bone Remodeling Disease 37 0.024
1029
PRP080 Peripheral Artery Disease 37 0.024
1030
NSY001 N Syndrome 36 0.024
1031
EXC003 Excessive Tearing 36 0.024
1032
c THR037 Thrombocytopenia 2 35 0.024
1033
ADL053 Adult Astrocytic Tumour 35 0.024
1034
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.024
1035
PLS010 Plasma Protein Metabolism Disease 34 0.024
1036
SWL001 Swallowing Disorders 33 0.024
1037
LYM023 Lymphatic System Cancer 33 0.024
1038
c MCL043 Macular Degeneration, Age-Related, 2 32 0.024
1039
ACT118 Acute Non Lymphoblastic Leukemia 30 0.024
1040
WHT017 Wheat Allergy 30 0.024
1041
c PLN021 Peeling Skin Syndrome 3 29 0.024
1042
P EPD025 Epidermolysis Bullosa with Pyloric Atresia 29 0.024
1043
c CLR079 Colorectal Cancer 2 29 0.024
1044
DYS011 Dyskinesia of Esophagus 28 0.024
1045
P TRC031 Trichorhinophalangeal Syndrome 26 0.024
1046
P MCL035 Macular Dystrophy, Retinal, 2 25 0.024
1047
FCL001 Facial Dermatosis 23 0.024
1048
CNT010 Central Nervous System Hematologic Cancer 18 0.024
1049
c ALP039 Alopecia Areata 1 18 0.024
1050
CD4004 Cd4 Deficiency 14 0.024
1051
DCH001 Duchenne Muscular Dystrophy 79 0.021
1052
P RTT002 Rett Syndrome 77 0.021
1053
NRL016 Neural Tube Defects 76 0.021
1054
P APL001 Aplastic Anemia 75 0.021
1055
P TYS001 Tay-Sachs Disease 71 0.021
1056
P DMN001 Diamond-Blackfan Anemia 69 0.021
1057
P CLC005 Celiac Disease 68 0.021
1058
P MYL005 Myelofibrosis 67 0.021
1059
CHG001 Chagas Disease 67 0.021
1060
CRB037 Cerebral Palsy 66 0.021
1061
P HYD006 Hydrocephalus 66 0.021
1062
ACR007 Acromegaly 66 0.021
1063
P CRN037 Craniosynostosis 66 0.021
1064
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.021
1065
GLC006 Galactosemia 64 0.021
1066
P LNG028 Long Qt Syndrome 64 0.021
1067
c HMP029 Hemophilia a 63 0.021
1068
DNG002 Dengue Hemorrhagic Fever 63 0.021
1069
P HLP001 Holoprosencephaly 63 0.021
1070
CRB039 Cerebrovascular Disease 63 0.021
1071
RCT015 Reactive Arthritis 63 0.021
1072
P CRN015 Cornelia De Lange Syndrome 62 0.021
1073
P GCH001 Gaucher's Disease 62 0.021
1074
CNG368 Congenital Adrenal Hyperplasia 62 0.021
1075
CNT047 Contact Dermatitis 61 0.021
1076
HYP066 Hyperglycemia 61 0.021
1077
CRY002 Cryptorchidism 60 0.021
1078
P MCP010 Mucopolysaccharidosis 60 0.021
1079
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 60 0.021
1080
PRD007 Periodontal Disease 60 0.021
1081
LPM004 Lipoma 60 0.021
1082
RBR001 Roberts Syndrome 60 0.021
1083
GLB001 Gilbert Syndrome 60 0.021
1084
CRN036 Craniopharyngioma 59 0.021
1085
P LKD001 Leukodystrophy 59 0.021
1086
c FML001 Familial Atrial Fibrillation 58 0.021
1087
P CRB019 Cerebral Amyloid Angiopathy 58 0.021
1088
VLC002 Vlcad Deficiency 58 0.021
1089
MTR014 Motor Neuron Disease 58 0.021
1090
P UVT001 Uveitis 58 0.021
1091
YLL002 Yellow Fever 58 0.021
1092
P HST010 Histiocytosis 58 0.021
1093
PNC034 Pancreas Disease 58 0.021
1094
DBT087