Search results for mecp2

768 hits were found for mecp2

# Family MCID Name MIFTS Score
1
P RTT002 Rett Syndrome 79 102.891
2
P ENC054 Encephalopathy, Neonatal Severe, Due to Mecp2 Mutations 35 97.373
3
LBS001 Lubs X-Linked Mental Retardation Syndrome 49 70.493
4
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 51.679
5
P MNT135 Mental Retardation, X-Linked, Syndromic 13 49 48.477
6
c ATS367 Autism X-Linked 3 27 34.922
8
MCP054 Mecp2 Disorders 16 33.082
9
P ANG001 Angelman Syndrome 65 29.314
10
P ATT013 Attention Deficit-Hyperactivity Disorder 66 22.822
11
P SZR006 Seizure Disorder 69 22.694
12
DSS008 Disease of Mental Health 74 21.858
13
BRX001 Bruxism 51 21.487
14
P MCR010 Microcephaly 59 20.336
15
P ATS364 Autism 72 20.158
16
P EPL164 Epilepsy 70 19.869
17
P NNS032 Non-Syndromic X-Linked Intellectual Disability 46 19.839
18
c SYS001 Systemic Lupus Erythematosus 86 18.106
19
P ENC018 Encephalopathy 62 17.575
20
c ATS007 Autism Spectrum Disorder 72 16.170
21
P SCH015 Schizophrenia 74 15.124
22
P DYS154 Dystonia 64 15.093
23
P PRV006 Pervasive Developmental Disorder 52 14.674
24
P SCK002 Sick Sinus Syndrome 55 12.453
25
SPS057 Spasticity 43 12.427
26
FCL014 Focal Epilepsy 53 12.253
27
DWN001 Down Syndrome 70 12.035
28
P FRG001 Fragile X Syndrome 70 12.007
29
P PRD006 Prader-Willi Syndrome 60 11.882
30
P SCL018 Scoliosis 57 11.583
31
WST001 West Syndrome 64 11.352
32
P ASP001 Asperger Syndrome 48 10.874
33
LRN003 Learning Disability 49 10.804
34
SPC010 Speech and Communication Disorders 48 10.575
35
GST092 Gastroesophageal Reflux 60 10.169
36
P RSP003 Respiratory Failure 74 9.919
37
HYP748 Hypertelorism 46 9.856
38
FCL073 Facial Hypertrichosis 15 9.581
39
P LRY029 Laryngomalacia 47 9.581
40
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 9.453
41
INF065 Infantile Hypotonia 21 8.958
42
IMM011 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 52 8.501
43
P BPL003 Bipolar Disorder 56 8.414
44
SMT008 Smith-Magenis Syndrome 53 8.352
45
KBG001 Kbg Syndrome 54 8.352
46
P GLL020 Gallbladder Disease 57 8.308
47
c SYN064 Syndromic X-Linked Intellectual Disability 25 8.202
48
P HYP077 Hypertrichosis 48 8.202
49
P MYP004 Myopathy 67 8.202
50
FTL006 Fetal Alcohol Spectrum Disorder 43 7.881
51
CNT097 Central Hypoventilation Syndrome, Congenital 70 7.438
52
ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 54 7.366
53
P ERL057 Early Infantile Epileptic Encephalopathy 61 7.318
54
GND018 Gene Duplication Disease 23 7.257
55
c ALP101 Alpha-Thalassemia 62 7.213
56
c FML272 Familial Sick Sinus Syndrome 37 7.179
57
P HYP265 Hypotonia 42 6.833
58
P PTT014 Pitt-Hopkins Syndrome 63 6.803
59
PRG009 Progressive Multifocal Leukoencephalopathy 58 6.739
60
MWT001 Mowat-Wilson Syndrome 57 6.680
61
CHR174 Christianson Syndrome 47 6.680
62
GTP001 Gait Apraxia 28 6.680
64
LNN001 Lennox-Gastaut Syndrome 61 6.647
65
P CRN015 Cornelia De Lange Syndrome 67 6.566
66
DRV001 Dravet Syndrome 70 6.209
67
c OTP006 Otopalatodigital Syndrome, Type I 60 6.099
68
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 6.099
69
CHR569 Chromosomal Duplication Syndrome 21 6.011
70
c DVL042 Developmental and Epileptic Encephalopathy 14 52 5.983
71
c DVL045 Developmental and Epileptic Encephalopathy 17 33 5.983
72
PHL006 Phelan-Mcdermid Syndrome 62 5.983
73
CFF002 Coffin-Lowry Syndrome 59 5.949
74
P STS008 Sotos Syndrome 1 62 5.949
75
PRT052 Partington X-Linked Mental Retardation Syndrome 45 5.906
76
P PLZ001 Pelizaeus-Merzbacher Disease 65 5.906
77
c PTT029 Pitt-Hopkins-Like Syndrome 1 50 5.906
78
CHN016 Cohen Syndrome 59 5.906
79
PTC002 Potocki-Lupski Syndrome 51 5.906
80
MNN009 Meningoencephalitis 48 5.906
81
ERL001 Early Myoclonic Encephalopathy 63 5.906
82
STR015 Stereotypic Movement Disorder 31 5.906
83
P TMT001 Timothy Syndrome 55 5.906
84
SPC005 Speech Disorder 46 5.906
85
VLC001 Velocardiofacial Syndrome 57 5.800
86
P RTN008 Retinitis Pigmentosa 79 5.800
87
c HYP794 Hyperoxaluria, Primary, Type I 63 5.800
88
KGM001 Kagami-Ogata Syndrome 54 5.800
89
VLP002 Valproate Embryopathy 38 5.800
90
c NRP041 Neuropathy, Hereditary Sensory, Type Ie 49 5.800
91
XLN230 X-Linked Monogenic Disease 17 5.800
92
c MNT219 Mental Retardation, Autosomal Dominant 30 31 5.800
93
c TRS027 Torsion Dystonia 4 19 5.800
94
ATY003 Atypical Autism 33 5.800
95
SPC003 Specific Developmental Disorder 31 5.800
96
NNT041 Neonatal Period Electroclinical Syndrome 24 5.800
97
INF033 Infancy Electroclinical Syndrome 22 5.800
98
c CHR565 Chromosomal Deletion Syndrome 25 5.800
99
P SYN078 Syndromic X-Linked Intellectual Disability Type 10 26 5.800
100
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 45 5.800
101
P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 39 5.800
102
c DVL028 Developmental and Epileptic Encephalopathy 8 39 5.800
103
c PNT039 Pontocerebellar Hypoplasia, Type 7 41 5.800
104
BNS002 Bone Structure Disease 25 5.800
105
P CHR084 Chromosomal Disease 34 5.800
106
PHY002 Physical Disorder 41 5.800
107
P PRM002 Primary Hyperoxaluria 65 5.800
108
c CNG031 Congenital Nervous System Abnormality 24 5.800
109
LND001 Landau-Kleffner Syndrome 50 5.800
110
CHL012 Childhood Disintegrative Disease 44 5.800
111
BNG009 Benign Epilepsy with Centrotemporal Spikes 60 5.800
112
CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 43 5.800
113
c PRM031 Primary Autosomal Recessive Microcephaly 55 5.800
114
c ENC057 Encephalopathy Due to Defective Mitochondrial and Peroxisomal Fission 1 43 5.800
115
ECH002 Echolalia 33 5.800
116
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 3.822
117
HYP266 Hypoxia 56 3.001
118
P TRM003 Tremor 50 2.909
119
P LPS004 Lupus Erythematosus 61 2.686
120
P GST053 Gastric Cancer 82 2.498
121
ATM095 Autoimmune Disease 61 2.393
122
ATN005 Autonomic Dysfunction 45 2.322
123
CNS004 Constipation 56 2.313
124
P NRB001 Neuroblastoma 66 2.081
125
P MYC033 Myoclonus 46 1.903
126
P CHR345 Chronic Pain 50 1.877
127
P MVM001 Movement Disease 61 1.840
128
P ATS366 Autism X-Linked 2 41 1.809
129
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 1.770
130
P RHM011 Rheumatoid Arthritis 81 1.753
131
VSL002 Visual Epilepsy 39 1.734
132
47X002 47,xyy 48 1.719
133
P FTL001 Fetal Alcohol Syndrome 55 1.666
134
GLM045 Glioma 62 1.657
135
GLL048 Glial Tumor 52 1.657
136
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 50 1.646
137
ANX010 Anxiety 70 1.638
138
P BRS047 Breast Cancer 97 1.630
139
P HPT023 Hepatocellular Carcinoma 95 1.628
140
P PRK039 Parkinsonism 55 1.555
141
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 61 1.549
142
APR001 Apraxia 51 1.542
143
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.515
144
DPR016 Depression 65 1.496
145
P PLM036 Pulmonary Fibrosis 65 1.456
146
P THL005 Thalassemia 56 1.413
147
c DVL029 Developmental and Epileptic Encephalopathy 2 46 1.374
148
P PNC035 Pancreatic Cancer 86 1.352
149
RTT008 Rett Syndrome, Congenital Variant 33 1.316
150
CHR178 Chromosomal Triplication 34 1.288
151
P OVR082 Overgrowth Syndrome 42 1.277
152
SPS019 Spastic Paraparesis 38 1.251
153
P ART022 Arthritis 70 1.233
154
HLX001 Helix Syndrome 47 1.222
155
KPS004 Kaposi Sarcoma 76 1.222
157
P CLR023 Colorectal Cancer 100 1.210
158
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 1.197
159
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 1.197
160
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 1.197
161
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 1.197
162
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 1.197
163
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 1.197
164
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 1.197
165
P MJR001 Major Depressive Disorder 68 1.197
166
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 1.197
167
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 1.197
168
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 1.197
169
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 1.197
170
MNT002 Mental Depression 56 1.197
171
CDK006 Cdkl5 Deficiency Disorder 30 1.182
172
CRB004 Cerebral Artery Occlusion 46 1.172
173
PLY150 Polykaryocytosis Inducer 29 1.158
174
ISC004 Ischemia 61 1.158
175
P SLP005 Sleep Disorder 62 1.158
176
OST159 Osteogenic Sarcoma 66 1.118
177
ASP007 Aspiration Pneumonia 49 1.115
178
ANT039 Antisynthetase Syndrome 55 1.115
180
P RTN024 Retinoblastoma 72 1.099
181
c MCR133 Microvascular Complications of Diabetes 4 41 1.099
182
RPD005 Rapidly Involuting Congenital Hemangioma 48 1.099
183
c MCR113 Microvascular Complications of Diabetes 3 52 1.099
184
c MCR130 Microvascular Complications of Diabetes 6 41 1.099
185
c MCR120 Microvascular Complications of Diabetes 7 47 1.099
186
CYT002 Cytokine Deficiency 43 1.083
187
P PLM037 Pulmonary Hypertension 69 1.066
188
MCN001 Mucinous Adenocarcinoma 49 1.066
189
APP009 Appendix Adenocarcinoma 47 1.066
190
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 1.058
191
P VTR007 Vitreoretinopathy 45 1.058
192
LWC002 Lowe Oculocerebrorenal Syndrome 68 1.051
193
P SYN057 Syndromic Intellectual Disability 37 1.028
194
RNL114 Renal Cell Carcinoma, Nonpapillary 79 1.028
195
P PRC019 Precocious Puberty 49 1.028
196
TTN003 Tetanus 64 1.008
197
P ENC004 Encephalitis 61 1.008
198
P EYD002 Eye Disease 57 0.990
199
MLD018 Mild Cognitive Impairment 48 0.985
200
HYP080 Hypogonadism 49 0.985
201
P ALZ034 Alzheimer Disease 87 0.978
202
P HYP730 Hypogonadotropic Hypogonadism 54 0.967
203
P SLP006 Sleep Apnea 69 0.960
204
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.952
205
ADP007 Adie Pupil 40 0.945
206
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.945
207
HNM002 Hinman Syndrome 26 0.945
208
P AGN002 Agnosia 53 0.939
209
VSC002 Vascular Dementia 59 0.939
210
CRT015 Carotid Artery Occlusion 45 0.939
211
P DVL113 Developmental and Epileptic Encephalopathy 45 0.925
212
c FNC027 Fanconi Anemia, Complementation Group a 81 0.925
213
P HRS035 Hirschsprung Disease 1 66 0.925
214
OHT001 Ohtahara Syndrome 39 0.925
215
48X005 48,xyyy 39 0.925
216
HMN044 Human Immunodeficiency Virus Type 1 76 0.917
217
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.911
218
ACT084 Acute Stress Disorder 53 0.911
219
c HPT016 Hepatitis B 62 0.911
220
PST028 Post-Traumatic Stress Disorder 59 0.911
221
c MCR115 Microvascular Complications of Diabetes 5 65 0.896
222
c MCR112 Microvascular Complications of Diabetes 2 42 0.896
223
P MCR129 Microvascular Complications of Diabetes 1 68 0.896
224
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.896
225
MDD011 Mood Disorder 62 0.896
226
GST040 Gastric Adenocarcinoma 66 0.896
227
P BCK002 Beckwith-Wiedemann Syndrome 61 0.880
228
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.880
229
RBS001 Rabies 58 0.880
230
DGR001 Digeorge Syndrome 62 0.880
231
P INF038 Influenza 68 0.880
232
FXG001 Foxg1 Syndrome 27 0.880
233
RCK004 Rickets 65 0.864
234
P HNT016 Huntington Disease 73 0.864
235
KLD003 Keloid Formation 34 0.864
236
HYP457 Hypertrophic Scars 42 0.864
237
CNN005 Connective Tissue Disease 66 0.864
238
P HPT021 Hepatitis 68 0.864
239
BRN028 Brain Cancer 73 0.864
240
KLD004 Keloid Disorder 39 0.864
241
FTT001 Fatty Liver Disease 61 0.864
242
GLC003 Glucose Intolerance 53 0.847
243
P MDL005 Medulloblastoma 75 0.847
244
P STR020 Strabismus 56 0.847
245
GLB002 Glioblastoma 67 0.847
246
LVR012 Liver Cirrhosis 62 0.847
247
ALL029 Allergic Disease 61 0.847
248
P RHB003 Rhabdomyosarcoma 66 0.847
249
c HPT007 Hepatitis E 50 0.847
250
P PNM007 Pneumonia 64 0.847
251
MCH006 Mechanical Strabismus 40 0.847
252
c PCH010 Pachyonychia Congenita 3 43 0.828
253
ORL015 Oral Squamous Cell Carcinoma 43 0.828
254
ACT098 Acute Erythroid Leukemia 55 0.828
255
LPD008 Lipid Metabolism Disorder 61 0.828
256
SQM006 Squamous Cell Carcinoma 59 0.828
257
INC021 Incontinentia Pigmenti 63 0.828
258
P CRB088 Cerebral Atrophy 33 0.828
259
c ATR087 Atrial Standstill 1 74 0.809
260
CRY035 Cryptorchidism, Unilateral or Bilateral 57 0.809
261
c LSS005 Lissencephaly 1 57 0.809
262
END057 Endometrial Cancer 71 0.809
263
P LSS002 Lissencephaly 53 0.809
264
P TBR001 Tuberous Sclerosis 69 0.809
265
P HYD006 Hydrocephalus 63 0.809
266
P THY032 Thyroiditis 56 0.809
267
CHR274 Chromosome Xq Duplication 12 0.809
268
SYS071 Systemic Autoimmune Disease 35 0.809
269
INS024 Insulin-Like Growth Factor I 77 0.788
270
OBS002 Obsessive-Compulsive Disorder 68 0.788
271
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 57 0.788
272
HYD002 Hydronephrosis 58 0.788
273
THY020 Thyroid Hyalinizing Trabecular Adenoma 19 0.788
274
PPL022 Papilloma 53 0.788
275
QDR001 Quadriplegia 49 0.788
276
P HYP086 Hypothyroidism 69 0.788
277
SQM002 Squamous Cell Papilloma 45 0.788
278
CCN002 Cocaine Abuse 49 0.788
279
P CRN037 Craniosynostosis 67 0.766
280
OPD001 Opioid Abuse 44 0.766
281
P GRV001 Graves' Disease 54 0.766
282
PLG004 Plagiocephaly 40 0.766
283
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.741
284
P MLT020 Multiple Sclerosis 79 0.741
285
IMM003 Immunoglobulin Alpha Deficiency 44 0.741
286
CLR108 Colorectal Adenoma 63 0.741
287
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.741
288
c CRN134 Cornelia De Lange Syndrome 2 31 0.741
289
P SJG008 Sjogren Syndrome 61 0.741
290
P BND020 Bone Disease 60 0.741
291
ADN018 Adenoma 58 0.741
292
FRS019 Farsightedness 35 0.741
293
PLY024 Polymicrogyria 46 0.741
294
P FBR031 Febrile Seizures 52 0.741
295
PNS014 Penis Agenesis 38 0.741
296
P BLT016 Bilateral Polymicrogyria 27 0.741
297
c ERL020 Early-Onset Schizophrenia 43 0.741
298
P ANP001 Anaplastic Large Cell Lymphoma 61 0.713
299
c SYS067 Systemic Lupus Erythematosus 15 12 0.713
300
P SPN046 Spinal Muscular Atrophy 62 0.713
301
THY030 Thyroid Gland Disease 50 0.713
302
SGN002 Signet Ring Cell Adenocarcinoma 46 0.713
303
SBP003 Subependymal Nodular Heterotopia 20 0.713
304
P MSC003 Muscular Atrophy 52 0.713
305
STM007 Stomatitis 52 0.713
306
HYD005 Hydrocele 46 0.713
307
P PLM064 Pulmonary Sequestration 22 0.713
308
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 59 0.679
309
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 0.679
310
ATS010 Autosomal Recessive Disease 42 0.679
311
NPH091 Nephrolithiasis, Calcium Oxalate 61 0.679
312
P LNG032 Lung Cancer 98 0.679
313
TRC097 Tracheomalacia 43 0.679
314
c MNT319 Mental Retardation, Autosomal Dominant 20 42 0.679
315
P URN019 Urinary Tract Infection 49 0.679
316
c ACT068 Acute Cystitis 61 0.679
317
NPH009 Nephrolithiasis 54 0.679
318
c ESS001 Essential Tremor 56 0.679
319
CHR073 Choreatic Disease 53 0.679
320
PNC129 Pancreatic Adenocarcinoma 65 0.679
321
HYP066 Hyperglycemia 60 0.679
322
SPC022 Specific Antibody Deficiency 25 0.679
323
c HRD198 Hereditary Dystonia 29 0.679
324
ICH020 Ichthyosis Prematurity Syndrome 40 0.669
325
c BRT038 Baraitser-Winter Syndrome 1 42 0.669
326
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 67 0.669
327
P DYS193 Dystonia 11, Myoclonic 55 0.669
328
NTR005 Nutritional Deficiency Disease 60 0.669
329
RDN001 Reading Disorder 40 0.669
330
c CNT035 Central Nervous System Disease 53 0.669
331
MRC001 Marchiafava Bignami Disease 28 0.669
332
MTY003 Mutyh Polyposis 38 0.669
333
CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 24 0.669
334
CHR391 Chromosome 15q24 Deletion Syndrome 33 0.635
335
STR103 Streptococcus Pneumonia 47 0.635
336
WTT002 Witteveen-Kolk Syndrome 34 0.635
337
GLL008 Gilles De La Tourette Syndrome 64 0.635
338
CRB027 Cerebellar Disease 47 0.635
339
CHR507 Chromosome Xq27.3-Q28 Duplication Syndrome 21 0.529
340
HPT022 Hepatoblastoma 54 0.529
341
c SCL052 Scleroderma, Familial Progressive 60 0.484
342
IQS001 Iqsec2 19 0.484
343
P GLM040 Glioma Susceptibility 1 70 0.472
344
P SYS005 Systemic Scleroderma 73 0.436
345
ANX004 Anoxia 40 0.436
346
P NRN021 Neuronal Ceroid Lipofuscinosis 64 0.423
347
CRV038 Cervical Squamous Cell Carcinoma 56 0.423
348
CRV035 Cervical Cancer 72 0.396
349
UND011 Undetermined Early-Onset Epileptic Encephalopathy 46 0.396
350
P ALC033 Alcohol Use Disorder 67 0.351
351
P DMN002 Dementia 65 0.351
352
STX004 Stxbp1 Encephalopathy with Epilepsy 14 0.351
353
NNS045 Non-Specific Syndromic Intellectual Disability 41 0.351
354
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.334
355
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.334
356
P TMP001 Temporal Lobe Epilepsy 49 0.334
357
LYS002 Lysosomal Storage Disease 51 0.334
358
EMB004 Embryonal Carcinoma 55 0.299
359
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.299
360
CRV002 Cervix Uteri Carcinoma in Situ 48 0.299
361
CRV045 Cervical Intraepithelial Neoplasia 38 0.299
362
NRN005 Neuronal Ceroid-Lipofuscinoses 61 0.280
363
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.280
364
c DVL041 Developmental and Epileptic Encephalopathy 13 43 0.280
365
ATR057 Atrioventricular Block 54 0.280
366
P LTR001 Lateral Sclerosis 58 0.280
367
P BRS053 Breast Fibroadenoma 48 0.280
368
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.280
369
LNG099 Lung Disease 62 0.280
370
c LRG001 Large Cell Carcinoma 48 0.280
371
P MTC069 Mitochondrial Disorders 57 0.280
372
SRC014 Sarcoma 64 0.259
373
TBL003 Tubular Adenocarcinoma 40 0.259
374
P LKM002 Leukemia 66 0.259
375
STX005 Stxbp1 Encephalopathy 23 0.259
376
SPN035 Spindle Cell Sarcoma 51 0.259
377
P DYS021 Dysautonomia 38 0.259
378
c JVN010 Juvenile Rheumatoid Arthritis 66 0.259
380
AGN016 Aging 54 0.236
381
c DVL052 Developmental and Epileptic Encephalopathy 26 37 0.236
382
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 65 0.236
383
c AMY023 Amyotrophic Lateral Sclerosis Type 6 35 0.236
384
c AMY105 Amyotrophic Lateral Sclerosis 6 with or Without Frontotemporal Dementia 34 0.236
385
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.236
386
c TRM017 Tremor, Hereditary Essential, 4 35 0.236
387
c DVL035 Developmental and Epileptic Encephalopathy 4 38 0.236
388
STT001 Status Epilepticus 58 0.236
389
P END044 Endometriosis 62 0.236
390
P LPS002 Liposarcoma 64 0.236
391
HYP056 Hypoglycemia 65 0.236
392
P DBT009 Diabetes Mellitus 67 0.236
393
P PRS040 Prostate Cancer 95 0.211
395
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 52 0.211
396
c CND033 Candidiasis, Familial, 1 27 0.211
397
c MJR024 Major Affective Disorder 9 40 0.211
398
c MJR022 Major Affective Disorder 8 37 0.211
399
c ATS387 Autosomal Dominant Non-Syndromic Intellectual Disability 5 34 0.211
400
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.211
401
BRN002 Bronchiolitis 57 0.211
402
P PLY011 Polycystic Ovary Syndrome 57 0.211
403
GST033 Gestational Diabetes 61 0.211
404
INT066 Interstitial Lung Disease 60 0.211
405
STR067 Stroke, Ischemic 79 0.211
406
P CRB059 Cerebellar Degeneration 36 0.211
408
MBD001 Mbd5 Haploinsufficiency 41 0.211
410
MYC069 Myoclonic-Astastic Epilepsy 43 0.211
411
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 57 0.183
412
c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 54 0.183
413
c DVL039 Developmental and Epileptic Encephalopathy 11 41 0.183
414
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 30 0.183
415
c DVL046 Developmental and Epileptic Encephalopathy 18 30 0.183
416
P OPN001 Open-Angle Glaucoma 55 0.183
417
c BNG023 Benign Familial Infantile Epilepsy 57 0.183
418
c SZR007 Seizures, Benign Familial Infantile, 3 45 0.183
419
GLT019 Glut1 Deficiency Syndrome 2 38 0.183
420
EXF001 Exfoliation Syndrome 56 0.183
421
c CLR094 Ciliary Dyskinesia, Primary, 28 32 0.183
422
P MNT185 Mental Retardation, Autosomal Dominant 7 44 0.183
423
c EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 32 0.183
424
c TBR025 Tuberous Sclerosis 1 84 0.183
425
P GND004 Gonadal Dysgenesis 46 0.183
426
P TRN020 Turner Syndrome 67 0.183
427
MLG120 Malignant Migrating Partial Seizures of Infancy 44 0.183
428
P MYL006 Myeloid Leukemia 60 0.183
429
P CTR002 Cataract 59 0.183
430
P BCL017 B-Cell Lymphoma 57 0.183
431
DYR003 Dyrk1a Syndrome 31 0.183
432
P MSC005 Muscular Dystrophy 66 0.183
433
MTH021 Methylmalonic Acidemia with Homocystinuria 44 0.183
434
PRX086 Paroxysmal Exertion-Induced Dyskinesia 27 0.183
435
GN1001 Gnao1 Encephalopathy 11 0.183
437
c INF185 Infantile Epilepsy Syndrome 29 0.183
438
ERY029 Erythermalgia, Primary 58 0.149
439
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 0.149
440
MYC079 Myoclonic Epilepsy of Lafora 63 0.149
441
c DVL027 Developmental and Epileptic Encephalopathy 9 45 0.149
442
INT319 Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked 40 0.149
443
c LKM063 Leukemia, Chronic Myeloid 71 0.149
444
ACR012 Aicardi Syndrome 46 0.149
445
c WRB002 Warburg Micro Syndrome 1 51 0.149
446
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 37 0.149
447
MYC071 Myoclonic-Atonic Epilepsy 32 0.149
448
P ADV001 Advanced Sleep Phase Syndrome 41 0.149
449
P LKD001 Leukodystrophy 58 0.149
450
RSP023 Rasopathy 54 0.149
451
INT072 Intestinal Pseudo-Obstruction 60 0.149
452
P KLF001 Kleefstra Syndrome 45 0.149
453
P DRM010 Dermatomyositis 61 0.149
454
P MMP001 Mumps 56 0.149
455
ATH013 Atherosclerosis Susceptibility 63 0.149
456
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 0.149
457
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 68 0.149
458
CRN264 Craniosynostosis with Fibular Aplasia 29 0.149
459
BRN032 Brain Glioma 45 0.149
460
WTH001 Withdrawal Disorder 47 0.149
461
P WRB001 Warburg Micro Syndrome 41 0.149
462
c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 49 0.149
463
c HYP595 Hypertension, Essential 84 0.149
464
CRD132 Cardiac Conduction Defect 59 0.149
465
CLF027 Cleft Palate, Isolated 64 0.149
466
c PRS114 Prostate Cancer, Hereditary, 2 33 0.149
467
c DVL038 Developmental and Epileptic Encephalopathy 7 48 0.149
468
EPL116 Epileptic Encephalopathy, Childhood-Onset 42 0.149
469
SMT004 Smith-Lemli-Opitz Syndrome 69 0.149
470
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 48 0.149
471
CHR369 Chromosome Xq28 Duplication Syndrome 24 0.149
472
c NRD032 Neurodegeneration with Brain Iron Accumulation 5 50 0.149
473
HND015 Hand Skill, Relative 29 0.149
474
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.149
475
c SCH079 Schizophrenia 1 44 0.149
476
WLL001 Williams-Beuren Syndrome 60 0.149
477
P NRD007 Neurodegeneration with Brain Iron Accumulation 51 0.149
478
CLT003 Colitis 63 0.149
479
c HRD202 Hereditary Lymphedema I 55 0.149
480
BRS099 Breast Ductal Carcinoma 61 0.149
481
c INH020 Inherited Metabolic Disorder 47 0.149
482
P PNC025 Panic Disorder 52 0.149
483
P INF032 Infertility 60 0.149
484
PRP016 Paraplegia 52 0.149
485
P PRP019 Peripheral Nervous System Disease 57 0.149
486
PRT037 Pertussis 49 0.149
487
OPT003 Opiate Dependence 49 0.149
488
P MLN008 Melanoma 75 0.149
489
P OST001 Osteopetrosis 70 0.149
490
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.149
491
CHL004 Cholelithiasis 48 0.149
492
GST037 Gastroparesis 52 0.149
493
P ECT006 Ectodermal Dysplasia 62 0.149
494
TRN015 Transient Cerebral Ischemia 62 0.149
495
P TRT010 Teratoma 50 0.149
496
SPN041 Spinal Cord Disease 54 0.149
497
c LKM061 Leukemia, Acute Myeloid 83 0.149
498
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.149
499
UNV001 Unverricht-Lundborg Syndrome 53 0.149
500
P HRP006 Herpes Simplex 65 0.149
501
DYS073 Dysphagia 53 0.149
502
PRG074 Progressive Myoclonus Epilepsy, Lafora Type 29 0.149
503
CRH001 Crohn's Disease 80 0.149
504
MTC005 Mitochondrial Metabolism Disease 45 0.149
505
P RBL001 Rubella 58 0.149
506
HYP264 Hypertonia 36 0.149
507
ALL014 Allergic Encephalomyelitis 34 0.149
508
ULC004 Ulcerative Colitis 74 0.149
509
MSL001 Measles 61 0.149
510
XQ2002 Xq28 Duplication Syndrome, Int22h1/int22h2 Mediated 9 0.149
511
P NRP001 Neuropathy 59 0.149
512
LYM019 Lymphosarcoma 46 0.149
513
SHX003 Shox Deficiency Disorders 11 0.149
514
P RNG032 Ring Chromosome 39 0.149
515
XLN236 X-Linked Intellectual Disability-Epilepsy Syndrome 22 0.149
516
PTR034 Paternal Uniparental Disomy 19 0.149
517
c EPS035 Episodic Ataxia, Type 2 63 0.106
518
P BLD134 Bladder Cancer 79 0.106
519
P JBR020 Joubert Syndrome 1 74 0.106
520
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 41 0.106
521
c PRX059 Peroxisome Biogenesis Disorder 1a 56 0.106
522
P MPL001 Maple Syrup Urine Disease 69 0.106
523
RNP003 Renpenning Syndrome 1 48 0.106
524
PRS129 Prostatic Hyperplasia, Benign 48 0.106
525
MYL069 Myeloma, Multiple 77 0.106
526
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 58 0.106
527
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 57 0.106
528
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64 0.106
529
P EPL140 Epilepsy, Idiopathic Generalized 60 0.106
530
c MCP043 Mucopolysaccharidosis, Type Iiia 61 0.106
531
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 67 0.106
532
c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 41 0.106
533
P EPL198 Epilepsy, Myoclonic Juvenile 61 0.106
534
SCT005 Scott Syndrome 51 0.106
535
EPL131 Epilepsy, Pyridoxine-Dependent 45 0.106
536
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.106
537
P ATX030 Ataxia-Telangiectasia 80 0.106
538
c ALB021 Albinism, Oculocutaneous, Type Ii 58 0.106
539
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56 0.106
540
c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 41 0.106
541
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 60 0.106
542
c 46X049 46,xy Sex Reversal 2 52 0.106
543
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.106
544
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53 0.106
545
MSS001 Masa Syndrome 60 0.106
546
c DVL033 Developmental and Epileptic Encephalopathy 1 49 0.106
547
GLY010 Glycine Encephalopathy 57 0.106
548
c PNT036 Pontocerebellar Hypoplasia, Type 6 46 0.106
549
c EPL207 Epilepsy, Progressive Myoclonic, 1b 29 0.106
550
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.106
551
P TMR010 Tumor Predisposition Syndrome 69 0.106
552
WHT019 White-Sutton Syndrome 44 0.106
553
c DVL058 Developmental and Epileptic Encephalopathy 32 27 0.106
554
c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37 0.106
555
P STR092 Striatal Degeneration, Autosomal Dominant 2 44 0.106
556
NRD091 Neurodevelopmental Disorder with Hypotonia and Impaired Expressive Language and with or Without Seizures 28 0.106
557
c MNT328 Mental Retardation, Autosomal Dominant 52 24 0.106
558
c DVL083 Developmental and Epileptic Encephalopathy 59 24 0.106
559
c NRP065 Neuropathy, Congenital Hypomyelinating, 3 27 0.106
560
c INT345 Intellectual Developmental Disorder, Autosomal Recessive 70 19 0.106
561
c DVL099 Developmental and Epileptic Encephalopathy 75 27 0.106
562
CMB096 Combined Oxidative Phosphorylation Deficiency 40 25 0.106
563
c 3MT024 3-Methylglutaconic Aciduria, Type Vii 44 0.106
564
c DVL059 Developmental and Epileptic Encephalopathy 33 34 0.106
565
P ENC069 Encephalopathy, Progressive, Early-Onset, with Brain Edema and/or Leukoencephalopathy, 1 25 0.106
566
INT334 Intellectual Developmental Disorder and Retinitis Pigmentosa 20 0.106
567
MTC164 Mitochondrial Complex I Deficiency, Nuclear Type 17 24 0.106
568
MTC168 Mitochondrial Complex I Deficiency, Nuclear Type 22 20 0.106
569
P OCL002 Oculocutaneous Albinism 59 0.106
570
SCH074 Schuurs-Hoeijmakers Syndrome 48 0.106
571
LBR036 Leber Plus Disease 67 0.106
572
P SNS001 Sensorineural Hearing Loss 59 0.106
573
P PNM006 Pneumoconiosis 55 0.106
574
P CRB045 Cerebellar Hypoplasia 40 0.106
575
THY121 Thyroid Gland Anaplastic Carcinoma 66 0.106
576
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 46 0.106
577
P OST002 Osteoporosis 77 0.106
578
P OVR042 Ovarian Cancer 88 0.106
579
P ANR048 Aniridia 1 66 0.106
580
ADN022 Adenylosuccinase Deficiency 44 0.106
581
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 0.106
582
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 48 0.106
583
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 0.106
584
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.106
585
CRP032 Corpus Callosum, Agenesis of 49 0.106
586
FRY002 Fryns Syndrome 39 0.106
587
c PRR020 Perrault Syndrome 1 34 0.106
588
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 0.106
589
MLL018 Miller-Dieker Lissencephaly Syndrome 53 0.106
590
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.106
591
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.106
592
VLV047 Volvulus of Midgut 55 0.106
593
P PRR025 Perrault Syndrome 42 0.106
594
P BRG001 Brugada Syndrome 69 0.106
595
HYP025 Hyperphosphatemia 47 0.106
597
SLT013 Salt and Pepper Syndrome 26 0.106
598
P HYP700 Hypomyelinating Leukodystrophy 35 0.106
599
P DXT004 Dextro-Looped Transposition of the Great Arteries 58 0.106
600
P CTN003 Cutaneous Lupus Erythematosus 52 0.106
601
P PNT019 Pontocerebellar Hypoplasia 45 0.106
602
c 3MT007 3-Methylglutaconic Aciduria 36 0.106
603
c SYN082 Syndromic X-Linked Intellectual Disability 14 22 0.106
604
NRD101 Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly 26 0.106
605
c DVL067 Developmental and Epileptic Encephalopathy 42 34 0.106
606
NRD029 Neurodevelopmental Disorder with Involuntary Movements 25 0.106
607
c EXD012 Exudative Vitreoretinopathy 7 36 0.106
608
MYP156 Myopathy, Congenital, Progressive, with Scoliosis 22 0.106
609
c EPS048 Episodic Ataxia, Type 9 25 0.106
610
CMB102 Combined Oxidative Phosphorylation Deficiency 46 16 0.106
611
LKN032 Leukoencephalopathy, Progressive, Infantile-Onset, with or Without Deafness 21 0.106
612
c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 39 0.106
613
SLT014 Salt and Pepper Developmental Regression Syndrome 43 0.106
614
MCR345 Microcephaly with Simplified Gyral Pattern 13 0.106
615
P THM010 Thiamine Metabolism Dysfunction Syndrome 2 49 0.106
616
c EPL205 Epilepsy, Idiopathic Generalized 13 29 0.106
617
c LBR005 Leber Congenital Amaurosis 10 44 0.106
618
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.106
619
PRP093 Pierpont Syndrome 35 0.106
620
EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 30 0.106
621
P LKD017 Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism 57 0.106
622
P KLZ004 Kala-Azar 1 41 0.106
623
P CPL014 Capillary Malformation-Arteriovenous Malformation 1 53 0.106
624
CMB015 Combined Oxidative Phosphorylation Deficiency 4 36 0.106
625
P KBK002 Kabuki Syndrome 1 66 0.106
626
LMY014 Leiomyoma, Uterine 55 0.106
627
ACH004 Achondroplasia 66 0.106
628
OCL052 Ocular Dominance 40 0.106
629
PPL052 Papillomatosis, Confluent and Reticulated 34 0.106
630
c CWD006 Cowden Syndrome 1 79 0.106
631
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68 0.106
632
c OPT053 Optic Atrophy 1 62 0.106
633
PCT003 Pectus Excavatum 43 0.106
634
c DYS056 Dystonia 12 63 0.106
635
P CFF008 Coffin-Siris Syndrome 1 63 0.106
636
NRL016 Neural Tube Defects 81 0.106
637
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.106
638
CRB150 Cerebral Creatine Deficiency Syndrome 2 54 0.106
639
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 43 0.106
640
INF129 Infantile Cerebellar-Retinal Degeneration 44 0.106
641
P CNG436 Congenital Disorder of Deglycosylation 51 0.106
642
c MNT183 Mental Retardation, Autosomal Recessive 36 29 0.106
643
c MTC088 Mitochondrial Dna Depletion Syndrome 13 43 0.106
644
c PNT032 Pontocerebellar Hypoplasia, Type 9 40 0.106
645
c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36 0.106
646
c TBR026 Tuberous Sclerosis 2 71 0.106
647
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.106
648
MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 26 0.106
649
c PRG020 Paragangliomas 3 39 0.106
650
c CRN209 Cornelia De Lange Syndrome 5 38 0.106
651
c LNR014 Linear Skin Defects with Multiple Congenital Anomalies 3 23 0.106
652
MTC148 Mitochondrial Complex I Deficiency, Nuclear Type 30 19 0.106
653
c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 47 0.106
654
OHD003 Ohdo Syndrome, X-Linked 29 0.106
655
c MNT289 Mental Retardation, X-Linked 103 21 0.106
656
c SPS116 Spastic Paraplegia 26, Autosomal Recessive 41 0.106
657
c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 43 0.106
658
CHL065 Cholangiocarcinoma 58 0.106
659
ACD008 Acid-Labile Subunit Deficiency 52 0.106
660
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 62 0.106
661
P CRD224 Cardiofaciocutaneous Syndrome 1 71 0.106
662
CHR619 Chromosome 2q35 Duplication Syndrome 64 0.106
663
IGR001 Ige Responsiveness, Atopic 59 0.106
664
c WLM013 Wilms Tumor 1 65 0.106
665
P LKM071 Leukemia, Chronic Lymphocytic 74 0.106
666
P OPT006 Optic Nerve Disease 57 0.106
667
P CHL002 Childhood Absence Epilepsy 63 0.106
668
c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 45 0.106
669
THY006 Thymus Lymphoma 27 0.106
670
P MTC010 Mitochondrial Dna Depletion Syndrome 46 0.106
671
c ATS388 Autosomal Dominant Non-Syndromic Intellectual Disability 6 32 0.106
672
P PTS002 Ptosis 52 0.106
673
c CNG513 Congenital Ptosis 42 0.106
674
P BRC006 Brachydactyly 52 0.106
675
c ATS383 Autosomal Dominant Non-Syndromic Intellectual Disability 1 36 0.106
676
NRD045 Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills 20 0.106
677
PNS018 Pain Sensitivity Quantitative Trait Locus 1 23 0.106
678
c INT393 Intellectual Developmental Disorder, Autosomal Dominant 64 17 0.106
679
P MYP006 Myopia 55 0.106
680
LMY002 Leiomyoma 51 0.106
681
P CCK001 Cockayne Syndrome 68 0.106
682
PRS021 Prostatic Adenoma 43 0.106
683
P ADN016 Adenocarcinoma 63 0.106
684
INT079 Intrahepatic Cholangiocarcinoma 51 0.106
685
DFF002 Diffuse Pulmonary Fibrosis 27 0.106
686
SPS003 Spastic Diplegia 52 0.106
687
PRS045 Prostatic Hypertrophy 52 0.106
688
DNT012 Dental Caries 53 0.106
689
CHL067 Cholecystitis 59 0.106
690
IRN002 Iron Metabolism Disease 56 0.106
691
c MCP001 Mucopolysaccharidosis Iii 69 0.106
692
TLN003 Telangiectasis 51 0.106
693
P CRD246 Cardiovascular System Disease 55 0.106
694
END021 Endomyocardial Fibrosis 56 0.106
695
P BNG026 Benign Neonatal Seizures 49 0.106
696
BNG006 Benign Familial Neonatal Epilepsy 54 0.106
697
ANT018 Anthracosis 51 0.106
698
P LVR013 Liver Disease 68 0.106
699
CLN015 Colon Adenocarcinoma 64 0.106
700
SMT002 Smooth Muscle Tumor 38 0.106
701
P MYT023 Myotonia Congenita 56 0.106
702
PSY004 Psychotic Disorder 66 0.106
703
ARS001 Aarskog-Scott Syndrome 54 0.106
704
INT372 Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type 32 0.106
705
MNK001 Menkes Disease 64 0.106
706
MSC157 Muscular Dystrophy, Duchenne Type 79 0.106
707
RSS027 Russell-Silver Syndrome, X-Linked 19 0.106
708
c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 58 0.106
709
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 0.106
710
c MYT029 Myotonia Congenita, Autosomal Recessive 42 0.106
711
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 0.106
712
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52 0.106
713
c LBR015 Leber Congenital Amaurosis 5 42 0.106
714
P ORT004 Orthostatic Intolerance 62 0.106
715
c MTC058 Mitochondrial Dna Depletion Syndrome 6 47 0.106
716
DBF001 D-Bifunctional Protein Deficiency 55 0.106
717
PHN003 Phenylketonuria 76 0.106
718
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 0.106
719
SDD001 Sudden Infant Death Syndrome 60 0.106
720
MSC152 Muscular Dystrophy, Becker Type 69 0.106
721
BLR004 Biliary Dyskinesia 36 0.106
722
c DVL053 Developmental and Epileptic Encephalopathy 27 29 0.106
723
P JVN050 Juvenile Amyotrophic Lateral Sclerosis 42 0.106
725
c SPS034 Spastic Paraplegia 26 16 0.106
726
XLN085 X-Linked Complicated Spastic Paraplegia Type 1 21 0.106
727
DVL005 Developmental Dyspraxia 22 0.106
728
LTH036 Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 17 0.106
729
SYN036 Syncope 44 0.106
730
VSC003 Visceral Leishmaniasis 54 0.106
731
CSK003 Cask Disorders 9 0.106
733
DYS030 Dysferlinopathy 38 0.106
734
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 38 0.106
736
P MTR014 Motor Neuron Disease 65 0.106
737
P BLR006 Biliary Tract Disease 46 0.106
738
CLF001 Cleft Lip 54 0.106
739
LSH001 Leishmaniasis 63 0.106
740
P AMY004 Amyloidosis 69 0.106
741
P HYP076 Hyperthyroidism 53 0.106
742
P NRV007 Nervous System Disease 66 0.106
743
CCN001 Cocaine Dependence 48 0.106
744
ALB002 Albinism 47 0.106
745
BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 26 0.106
747
c SPS092 Spastic Paraplegia 11 37 0.106
748
P NRF002 Neurofibromatosis 60 0.106
749
CNV009 Convulsions Benign Familial Neonatal Dominant Form 31 0.106
750
c EPL009 Epilepsy Progressive Myoclonic Type 3 19 0.106
751
EPL230 Epilepsy with Myoclonic-Atonic Seizures 23 0.106
752
DVL001 Developmental Coordination Disorder 34 0.106
753
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 29 0.106
755
PRK046 Parkin Type of Early-Onset Parkinson Disease 21 0.106
756
P ZLL001 Zellweger Syndrome 65 0.106
757
THY128 Thyroid Tumor 33 0.106
758
ADG002 Audiogenic Seizures 25 0.106
759
c SBC035 Subacute Cutaneous Lupus Erythematosus 34 0.106
760
HYD048 Hydrocephalus with Stenosis of the Aqueduct of Sylvius 37 0.106
761
XLN235 X-Linked Intellectual Disability with Marfanoid Habitus 28 0.106
762
ORF053 Orofacial Clefting Syndrome 31 0.106
763
QLT008 Qualitative or Quantitative Defects of Dysferlin 30 0.106
764
INH023 Inherited Cancer-Predisposing Syndrome 53 0.106
765
CRB159 Cerebral Visual Impairment 34 0.106
766
c MYC068 Myoclonic Epilepsy of Infancy 34 0.106
767
NNS061 Non-Syndromic Pontocerebellar Hypoplasia 24 0.106
768
THY029 Thyroid Carcinoma 54 0.106
Content
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