Search results for cftr

828 hits were found for cftr

# Family MCID Name MIFTS Score
1
CYS001 Cystic Fibrosis 77 154.612
2
VSD002 Vas Deferens, Congenital Bilateral Aplasia of 50 61.385
3
c PNC108 Pancreatitis, Hereditary 68 45.059
4
P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 33 34.873
5
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 30.388
6
IDP074 Idiopathic Bronchiectasis 47 29.610
8
P MLN007 Male Infertility 56 28.995
9
P INF032 Infertility 60 22.321
10
LNG099 Lung Disease 62 21.901
11
P PNC044 Pancreatitis 61 21.719
12
AZS001 Azoospermia 45 18.620
13
ATS010 Autosomal Recessive Disease 42 18.563
14
P BRN022 Bronchiectasis 59 17.935
15
CHL014 Cholera 62 16.784
16
c ACT027 Acute Pancreatitis 60 15.178
17
P PLY014 Polycystic Kidney Disease 71 15.029
18
P PNC035 Pancreatic Cancer 86 14.983
19
BRN024 Bronchitis 67 14.853
20
P KDN018 Kidney Disease 72 14.412
21
P RSP003 Respiratory Failure 74 13.353
22
P ALL008 Allergic Bronchopulmonary Aspergillosis 53 13.208
23
P CHL066 Cholangitis 51 13.099
24
SCR003 Secretory Diarrhea 35 12.866
25
BCT022 Bacterial Infectious Disease 56 12.836
26
ILS001 Ileus 49 12.706
27
P DRR001 Diarrhea 55 12.563
28
P AST005 Asthma 76 12.337
29
P INT070 Intestinal Obstruction 57 11.952
30
PLM129 Pulmonary Disease, Chronic Obstructive 74 11.852
31
ALC005 Alcoholic Pancreatitis 38 11.743
32
P PNM007 Pneumonia 64 11.541
33
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 11.504
34
P ASP006 Aspergillosis 71 11.459
35
EXC002 Exocrine Pancreatic Insufficiency 42 11.184
36
P SCL009 Sclerosing Cholangitis 46 10.997
37
c CHL119 Cholangitis, Primary Sclerosing 57 10.968
38
P OST002 Osteoporosis 77 10.965
39
P CYS039 Cystic Kidney Disease 52 10.670
40
MGC001 Megacolon 48 10.386
41
OLG001 Oligospermia 45 10.288
42
PLM010 Pulmonary Edema 54 10.227
43
MCN017 Meconium Ileus 52 10.182
44
P RNL100 Renal Hypodysplasia/aplasia 1 63 10.124
45
CHY002 Chylomicron Retention Disease 64 10.117
46
c ATM024 Autoimmune Pancreatitis 52 9.964
47
c PNC106 Pancreatic Agenesis 1 51 9.933
48
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 9.848
49
TYP007 Typhoid Fever 63 9.733
50
P MSC005 Muscular Dystrophy 66 9.659
51
P PRM011 Primary Ciliary Dyskinesia 69 9.641
52
P DBT009 Diabetes Mellitus 67 9.544
53
PRM236 Primary Biliary Cholangitis 62 9.522
54
P PSD003 Pseudohypoaldosteronism 45 9.421
55
P GLL020 Gallbladder Disease 57 9.404
56
DSS032 Disease by Infectious Agent 55 9.239
57
ALP103 Alpha-1-Antitrypsin Deficiency 67 9.239
58
P PLV020 Pelvic Organ Prolapse 58 9.197
59
INT051 Intussusception 53 9.166
60
P LDD007 Liddle Syndrome 1 57 9.112
61
KRT010 Kartagener Syndrome 49 9.018
62
PRT013 Portal Hypertension 59 8.926
63
AQG004 Aquagenic Syringeal Acrokeratoderma 15 8.758
64
CYS042 Cystic Fibrosis and Congenital Absence of the Vas Deferens 14 8.648
65
c HMC039 Hemochromatosis, Type 1 73 8.606
66
MMM001 Mammary Paget's Disease 53 8.606
67
P PSD087 Pseudoxanthoma Elasticum 66 8.586
68
c TYP009 Type 2 Diabetes Mellitus 92 8.479
69
INT072 Intestinal Pseudo-Obstruction 60 8.479
70
P SPC019 Specific Language Impairment 31 8.479
71
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55 8.333
72
PRT038 Protein-Energy Malnutrition 53 8.333
73
CMM005 Common Cold 55 7.843
74
MLN084 Male Infertility with Azoospermia or Oligozoospermia Due to Single Gene Mutation 20 7.799
75
CRY035 Cryptorchidism, Unilateral or Bilateral 57 7.597
76
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 7.314
77
VSD001 Vas Deferens, Congenital Bilateral Aplasia of, X-Linked 28 7.309
78
MYC013 Mycobacterium Abscessus 42 7.069
79
BLR008 Bilirubin Metabolic Disorder 57 7.061
80
P BRT004 Bartter Disease 58 7.034
81
BLC012 Bile Acid Malabsorption, Primary 43 6.914
82
YNG002 Young Syndrome 26 6.771
83
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 65 6.756
84
MTN002 Mite Infestation 35 6.708
85
SPR017 Spermatocele 35 6.651
86
NNT049 Nontuberculous Mycobacterial Lung Disease 46 6.651
87
DDN011 Duodenal Atresia 48 6.611
88
MLR009 Miliaria 33 6.545
89
MLR001 Miliaria Rubra 32 6.545
90
PRN021 Paranasal Sinus Disease 44 6.520
91
P RTN008 Retinitis Pigmentosa 79 6.165
92
HYP815 Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome 52 6.145
93
ATS009 Autosomal Genetic Disease 24 6.123
94
PLY023 Polycystic Liver Disease 62 6.099
95
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 6.038
96
BRN038 Bronchial Disease 51 6.038
97
ACR111 Acrokeratoderma, Hereditary Papulotranslucent 30 5.893
98
P TYS001 Tay-Sachs Disease 69 5.893
99
DRR013 Diarrhea 8, Secretory Sodium, Congenital 35 5.893
100
XLN230 X-Linked Monogenic Disease 17 5.893
101
c CLR095 Ciliary Dyskinesia, Primary, 19 34 5.893
102
DSS008 Disease of Mental Health 74 5.893
103
PLS010 Plasma Protein Metabolism Disease 25 5.893
104
BLR004 Biliary Dyskinesia 36 5.893
105
URC002 Urea Cycle Disorder 51 5.893
106
AGN016 Aging 54 5.837
107
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 4.164
108
CNS004 Constipation 56 3.444
109
PNC034 Pancreas Disease 49 3.166
110
P BND020 Bone Disease 60 2.987
111
P BRS047 Breast Cancer 97 2.771
112
PNC129 Pancreatic Adenocarcinoma 65 2.689
113
HLX001 Helix Syndrome 47 2.670
114
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 2.636
115
P INT068 Intestinal Disease 53 2.450
116
CHL068 Cholestasis 61 2.396
117
PRT049 Partial Deletion of Y 33 2.058
118
P HRS035 Hirschsprung Disease 1 66 2.052
119
P LVR013 Liver Disease 68 2.001
120
ALC007 Alcohol Dependence 65 1.989
121
P ALC033 Alcohol Use Disorder 67 1.975
122
48X005 48,xyyy 39 1.970
123
HYP266 Hypoxia 56 1.937
124
PRT037 Pertussis 49 1.934
125
P ADN016 Adenocarcinoma 63 1.930
126
P PLM036 Pulmonary Fibrosis 65 1.838
127
P INF037 Inflammatory Bowel Disease 53 1.827
128
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.823
129
RPD005 Rapidly Involuting Congenital Hemangioma 48 1.814
130
BNR002 Bone Resorption Disease 47 1.804
131
P CLC063 Celiac Disease 1 66 1.804
132
47X002 47,xyy 48 1.742
133
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.710
134
GLC003 Glucose Intolerance 53 1.679
135
P CLR023 Colorectal Cancer 100 1.672
136
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 1.651
137
P PLY011 Polycystic Ovary Syndrome 57 1.548
138
PRT036 Peritonitis 65 1.521
139
P EXN002 Exanthem 58 1.507
140
P SRC025 Sarcoidosis 1 70 1.496
141
P DDN001 Duodenal Ulcer 53 1.495
142
P INF038 Influenza 68 1.445
143
P OVR082 Overgrowth Syndrome 42 1.445
144
OLG022 Oligoasthenoteratozoospermia 35 1.423
145
IRR002 Irritable Bowel Syndrome 65 1.400
146
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 1.391
147
LVR012 Liver Cirrhosis 62 1.382
148
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 60 1.371
149
CNG064 Congenital Chloride Diarrhea 34 1.368
150
P LKM002 Leukemia 66 1.368
151
PNM008 Pneumothorax 54 1.360
152
HYP066 Hyperglycemia 60 1.360
153
CYT002 Cytokine Deficiency 43 1.351
154
P OVR042 Ovarian Cancer 88 1.343
155
P THL005 Thalassemia 56 1.338
156
P END044 Endometriosis 62 1.326
157
c SPR086 Spermatogenic Failure 3 47 1.326
158
CRV035 Cervical Cancer 72 1.326
159
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 1.317
160
HMP009 Haemophilus Influenzae 41 1.317
161
CHL123 Chlamydia 58 1.308
163
P LKM062 Leukemia, Acute Lymphoblastic 69 1.299
164
PNC041 Pancreatic Ductal Adenocarcinoma 51 1.298
165
c ACT073 Acute Leukemia 59 1.281
166
P EYD002 Eye Disease 57 1.276
167
P FML355 Familial Intrahepatic Cholestasis 42 1.271
168
KRT019 Keratitis, Hereditary 66 1.242
169
PLY150 Polykaryocytosis Inducer 29 1.231
170
GLB002 Glioblastoma 67 1.221
171
BRN014 Bronchopneumonia 52 1.210
172
P GCH001 Gaucher's Disease 69 1.210
173
P MSC003 Muscular Atrophy 52 1.210
174
PRT251 Proteinuria, Chronic Benign 58 1.199
175
RCK004 Rickets 65 1.199
176
CLT003 Colitis 63 1.199
177
STN013 Stenotrophomonas Maltophilia Infection 26 1.199
178
VCC001 Vaccinia 49 1.190
179
OTT002 Otitis Media 71 1.188
180
P LNG064 Lung Cancer Susceptibility 3 70 1.188
181
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 57 1.188
182
ATP014 Atp8b1 Deficiency 28 1.188
183
GST045 Gastroenteritis 58 1.177
184
c SPR162 Spermatogenic Failure 50 42 1.168
185
c GLL024 Gallbladder Disease 1 53 1.165
186
PLV003 Pelvic Inflammatory Disease 54 1.165
187
SQM006 Squamous Cell Carcinoma 59 1.153
188
BRN002 Bronchiolitis 57 1.141
189
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 1.133
190
OVR094 Ovarian Epithelial Cancer 39 1.128
191
P SCK005 Sickle Cell Disease 56 1.128
192
CMP063 Complement Factor B Deficiency 31 1.125
193
CYS047 Cystic Fibrosis, Modifier of, 1 15 1.115
194
HMC014 Homocysteinemia 52 1.102
195
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.088
196
BLR001 Biliary Atresia 55 1.088
197
ALL006 Allergic Asthma 56 1.073
198
P NRF002 Neurofibromatosis 60 1.073
199
P HPT023 Hepatocellular Carcinoma 95 1.070
200
P DRM053 Dermatitis, Atopic 65 1.058
201
SPL018 Splenomegaly 47 1.058
202
c CHR684 Chronic Kidney Disease 74 1.042
203
CHR177 Chromophobe Renal Cell Carcinoma 54 1.032
204
c SPR119 Spermatogenic Failure, X-Linked, 1 36 1.025
205
c LSS005 Lissencephaly 1 57 1.025
206
PNM010 Pneumothorax, Primary Spontaneous 58 1.025
207
ISC004 Ischemia 61 1.011
208
P BRS044 Breast Adenocarcinoma 58 1.011
209
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.989
210
P ATX030 Ataxia-Telangiectasia 80 0.989
211
c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 42 0.989
212
HPT022 Hepatoblastoma 54 0.989
213
P LNG032 Lung Cancer 98 0.979
214
HYP056 Hypoglycemia 65 0.979
215
P MRC003 Mercury Poisoning 48 0.968
216
ECT026 Ectopic Pregnancy 47 0.967
217
ADR007 Adrenoleukodystrophy 74 0.959
218
DRR016 Diarrhea 2, with Microvillus Atrophy 54 0.956
219
CHL067 Cholecystitis 59 0.956
220
c DPH024 Diaphragmatic Hernia, Congenital 64 0.946
221
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.946
222
P HYP750 Hypertriglyceridemia, Familial 62 0.944
223
P HYP069 Hyperparathyroidism 62 0.944
224
P MYC007 Myocardial Infarction 69 0.931
225
OVR029 Ovarian Hyperstimulation Syndrome 63 0.931
226
P MYP004 Myopathy 67 0.922
227
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.919
228
P ALG028 Alagille Syndrome 1 73 0.919
229
P HYP086 Hypothyroidism 69 0.919
230
HYP005 Hypokalemia 55 0.905
231
ULC004 Ulcerative Colitis 74 0.905
232
PLM029 Palmoplantar Keratosis 48 0.894
233
ING001 Inguinal Hernia 59 0.892
234
NPH009 Nephrolithiasis 54 0.892
235
HGH043 High Grade Glioma 46 0.892
236
RDN001 Reading Disorder 40 0.887
237
P TRN020 Turner Syndrome 67 0.887
238
P GST053 Gastric Cancer 82 0.878
239
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.878
240
MTB004 Metabolic Acidosis 48 0.878
241
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.878
242
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 0.878
243
MYT011 Myotonia 38 0.878
244
FTT001 Fatty Liver Disease 61 0.878
245
ESP021 Esophageal Cancer 84 0.863
246
HLC007 Helicobacter Pylori Infection 67 0.863
247
P NSP012 Nasopharyngeal Carcinoma 60 0.863
248
GLM045 Glioma 62 0.863
249
GLL048 Glial Tumor 52 0.863
250
ATS478 Autosomal Recessive Congenital Bilateral Absence of Vas Deferens 3 0.856
251
c PSD093 Pseudohypoaldosteronism, Type Iid 32 0.848
252
CHL065 Cholangiocarcinoma 58 0.848
253
INT079 Intrahepatic Cholangiocarcinoma 51 0.848
254
IMP005 Impotence 52 0.848
255
ESP027 Esophagus Squamous Cell Carcinoma 45 0.848
256
P PLM037 Pulmonary Hypertension 69 0.832
257
c ATR087 Atrial Standstill 1 74 0.832
258
END057 Endometrial Cancer 71 0.832
259
BRN012 Bronchiolitis Obliterans 56 0.832
260
URT010 Ureteral Obstruction 45 0.832
261
c DLT002 Dilated Cardiomyopathy 79 0.832
262
HYP043 Hyperandrogenism 47 0.832
263
P BCL017 B-Cell Lymphoma 57 0.832
264
c MLN085 Male Infertility Due to Obstructive Azoospermia 10 0.832
265
P SPP010 Suppressor of Tumorigenicity 3 51 0.815
266
P CRN024 Corneal Disease 43 0.815
267
c PRC016 Pre-Eclampsia 64 0.815
268
IGR001 Ige Responsiveness, Atopic 59 0.815
269
SKN016 Skin Disease 62 0.815
270
P TRT010 Teratoma 50 0.815
271
c MLG081 Malignant Teratoma 37 0.815
272
PRS129 Prostatic Hyperplasia, Benign 48 0.798
273
HYP020 Hyperprolactinemia 63 0.798
274
c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53 0.798
275
PRS021 Prostatic Adenoma 43 0.798
276
PRS045 Prostatic Hypertrophy 52 0.798
277
c RNG015 Ring Chromosome 2 22 0.798
278
THY029 Thyroid Carcinoma 54 0.798
279
PNB004 Panbronchiolitis, Diffuse 34 0.779
280
LPD008 Lipid Metabolism Disorder 61 0.779
281
ADN018 Adenoma 58 0.779
282
P INS002 in Situ Carcinoma 53 0.779
283
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.779
284
GST050 Gastrointestinal System Disease 55 0.779
285
URL001 Urolithiasis 45 0.759
286
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.759
287
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.759
288
CNG034 Congestive Heart Failure 69 0.759
289
P NMN002 Niemann-Pick Disease 60 0.759
290
PRS047 Prostatitis 58 0.759
291
ANV001 Anovulation 46 0.759
292
P HMP007 Hemophilia 52 0.759
293
MCP006 Mucoepidermoid Carcinoma 48 0.759
294
CGH002 Cough Headache 16 0.759
295
c UNP012 Uniparental Disomy of Chromosome 7 14 0.759
296
NNS033 Non-Syndromic Male Infertility Due to Sperm Motility Disorder 25 0.759
297
c HMP029 Hemophilia a 69 0.737
298
URG005 Uruguay Faciocardiomusculoskeletal Syndrome 36 0.737
299
FCT001 Factor Viii Deficiency 62 0.737
300
KRT001 Keratoconjunctivitis Sicca 49 0.737
301
c ATM011 Autoimmune Hepatitis 62 0.737
302
P THR014 Thrombocytopenia 66 0.737
303
TTN003 Tetanus 64 0.737
304
c NMN015 Niemann-Pick Disease, Type C1 68 0.737
305
P PLM034 Pulmonary Emphysema 58 0.737
306
KRT006 Keratoconjunctivitis 53 0.737
307
c FML053 Familial Colorectal Cancer 47 0.737
308
TRP008 Tropical Calcific Pancreatitis 46 0.712
309
c MCR133 Microvascular Complications of Diabetes 4 41 0.712
310
HYP458 Hyper Ige Syndrome 60 0.712
311
THY111 Thyroid Carcinoma, Familial Medullary 67 0.712
312
ENT011 Enterocolitis 55 0.712
313
c MCR113 Microvascular Complications of Diabetes 3 52 0.712
314
c MCR130 Microvascular Complications of Diabetes 6 41 0.712
315
c MCR120 Microvascular Complications of Diabetes 7 47 0.712
316
ACT088 Acute Insulin Response 39 0.712
317
P CRN026 Corneal Edema 42 0.712
318
c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43 0.712
319
HYP457 Hypertrophic Scars 42 0.712
320
GT001 Gout 63 0.712
321
GNG013 Gingivitis 59 0.712
322
P FBR017 Fibrosarcoma 55 0.712
323
THY125 Thyroid Gland Medullary Carcinoma 48 0.712
324
AVN001 Avian Influenza 61 0.712
325
P DNT020 Dent Disease 1 63 0.685
326
P HYP058 Hypervitaminosis a 47 0.685
327
RTN017 Retinal Detachment 60 0.685
328
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.685
329
GST023 Gastric Ulcer 52 0.685
330
RTN003 Retinal Ischemia 48 0.685
331
MYC015 Mycobacterium Fortuitum 28 0.685
332
VPM001 Vipoma 49 0.685
333
DFN038 Dfnb1 34 0.685
334
P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 26 0.685
335
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 42 0.685
337
NPH091 Nephrolithiasis, Calcium Oxalate 61 0.652
338
c DFN097 Deafness, Autosomal Recessive 1a 49 0.652
339
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 61 0.652
340
ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 54 0.652
341
MRS001 Marasmus 41 0.652
342
DRM006 Dermatitis 62 0.652
343
ECZ002 Eczema Herpeticum 44 0.652
344
NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 30 0.652
345
FLL008 Folliculitis 45 0.652
346
INT040 Intrinsic Asthma 36 0.652
347
PTT041 Pituitary Stalk Interruption Syndrome 54 0.652
348
ADL002 Adult Syndrome 69 0.627
349
RHB024 Rhabdomyosarcoma 2 65 0.627
350
ACR041 Acromelic Frontonasal Dysostosis 53 0.627
351
P ANR048 Aniridia 1 66 0.627
352
IDP011 Idiopathic Interstitial Pneumonia 59 0.627
353
P STR022 Stargardt Disease 61 0.609
354
P HNT016 Huntington Disease 73 0.609
355
PRN019 Perinatal Necrotizing Enterocolitis 60 0.609
356
P RHN004 Rhinitis 57 0.565
357
STM007 Stomatitis 52 0.555
358
ALL003 Allergic Rhinitis 66 0.536
359
c HPT073 Hepatitis C Virus 71 0.524
360
DRG024 Drug Allergy 40 0.506
361
c RBN018 Robinow Syndrome, Autosomal Dominant 1 50 0.506
362
TST014 Testicular Cancer 51 0.506
363
STR046 Stargardt Macular Degeneration 27 0.506
364
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58 0.472
365
c BRN075 Bronchiectasis with or Without Elevated Sweat Chloride 2 26 0.461
366
MDD018 Middle East Respiratory Syndrome 44 0.449
367
P ADL010 Adult Respiratory Distress Syndrome 71 0.449
368
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.437
369
c SML038 Small Cell Cancer of the Lung 69 0.425
370
IRN008 Iron Overload in Africa 51 0.420
371
RJS001 Ruijs-Aalfs Syndrome 47 0.420
372
HPT079 Hepatoid Adenocarcinoma 39 0.420
373
ADL096 Adult Hepatocellular Carcinoma 60 0.420
374
PDT042 Pediatric Hepatocellular Carcinoma 50 0.420
375
PTY007 Pityriasis Rotunda 26 0.420
376
FBR086 Fibrolamellar Carcinoma 59 0.420
377
HPT011 Hepatocellular Clear Cell Carcinoma 45 0.420
378
c BRN077 Bronchiectasis with or Without Elevated Sweat Chloride 3 21 0.412
379
SVR004 Severe Combined Immunodeficiency 71 0.412
380
CLN015 Colon Adenocarcinoma 64 0.412
381
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.399
382
PND002 Pendred Syndrome 57 0.386
383
P HYP730 Hypogonadotropic Hypogonadism 54 0.386
384
P RNL017 Renal Oncocytoma 54 0.380
385
ALC006 Alcoholic Hepatitis 61 0.380
386
c PRD040 Periodontitis, Chronic 52 0.372
387
P RHM011 Rheumatoid Arthritis 81 0.372
388
DST005 Diastrophic Dysplasia 57 0.372
389
P SPN046 Spinal Muscular Atrophy 62 0.372
390
INT066 Interstitial Lung Disease 60 0.372
391
P PRD008 Periodontitis 64 0.372
392
P MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 60 0.357
393
INS024 Insulin-Like Growth Factor I 77 0.357
394
ACT098 Acute Erythroid Leukemia 55 0.357
395
CHR074 Choriocarcinoma 46 0.357
396
HYP080 Hypogonadism 49 0.342
397
PHN003 Phenylketonuria 76 0.342
398
YCH001 Y Chromosome Infertility 27 0.342
399
ACT119 Acute Promyelocytic Leukemia 62 0.326
400
ESP023 Esophageal Disease 52 0.326
401
CHL004 Cholelithiasis 48 0.326
402
c LKM061 Leukemia, Acute Myeloid 83 0.326
403
VRC005 Varicose Veins 59 0.309
404
c BRN108 Branchiootic Syndrome 1 63 0.309
405
GST092 Gastroesophageal Reflux 60 0.292
406
CMB007 Combined Immunodeficiency 56 0.292
407
P SHW006 Shwachman-Diamond Syndrome 1 66 0.292
408
STS002 Situs Inversus 44 0.292
409
c PCH010 Pachyonychia Congenita 3 43 0.273
410
NRR001 Neuroretinitis 42 0.273
411
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.273
412
DRY001 Dry Eye Syndrome 49 0.273
413
P HYP050 Hyperinsulinemic Hypoglycemia 56 0.273
414
c PRM005 Primary Hyperparathyroidism 59 0.273
415
RTN023 Retinitis 45 0.273
416
CRC006 Carcinoid Syndrome 55 0.273
417
P ART022 Arthritis 70 0.273
418
ANX010 Anxiety 70 0.253
419
MSC007 Muscle Hypertrophy 64 0.253
420
BRR014 Barrett Esophagus 66 0.253
421
IMM167 Immune Deficiency Disease 77 0.253
422
c INF002 Inflammatory Diarrhea 30 0.253
423
LKC009 Leukocyte Adhesion Deficiency, Type I 70 0.253
424
P ESP024 Esophagitis 60 0.253
425
P MYT023 Myotonia Congenita 56 0.253
426
LYS002 Lysosomal Storage Disease 51 0.253
427
P CHR345 Chronic Pain 50 0.253
428
P NRB001 Neuroblastoma 66 0.253
429
P DBT005 Diabetes Insipidus 54 0.253
430
P HYP098 Hypereosinophilic Syndrome 66 0.253
431
EPT028 Epithelial Basolateral Chloride Conductance Regulator, Rabbit, Homolog of 9 0.231
432
c PSD108 Pseudohypoparathyroidism, Type Ia 64 0.231
433
DBN001 Dubin-Johnson Syndrome 57 0.231
434
c TYP008 Type 1 Diabetes Mellitus 77 0.231
435
P LTH003 Lethal Congenital Contracture Syndrome 40 0.231
436
P HYP726 Hypercalcemia, Infantile, 1 58 0.231
437
c BTT014 Beta-Thalassemia 72 0.231
438
c SCN036 Secondary Progressive Multiple Sclerosis 55 0.231
439
DYS015 Dysentery 50 0.231
440
P LTR001 Lateral Sclerosis 58 0.231
441
PLM012 Pulmonary Sarcoidosis 53 0.231
442
LYM021 Lymphadenitis 56 0.231
443
ALL029 Allergic Disease 61 0.231
444
BLR002 Bile Reflux 38 0.231
445
MSC157 Muscular Dystrophy, Duchenne Type 79 0.231
446
DNT001 Dental Fluorosis 42 0.231
447
P VSC011 Vasculitis 61 0.231
448
P DCR003 Dacryoadenitis 44 0.231
449
CRH001 Crohn's Disease 80 0.231
450
P BLR006 Biliary Tract Disease 46 0.231
451
CHR178 Chromosomal Triplication 34 0.231
452
BWN006 Bowen's Disease 32 0.231
453
P RTN016 Retinal Degeneration 52 0.231
454
APP008 Appendicitis 62 0.231
455
P NRV007 Nervous System Disease 66 0.231
456
PNC055 Pancreatitis, Pediatric 7 0.231
457
ARG004 Argyria 26 0.231
458
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 0.231
459
P BLD134 Bladder Cancer 79 0.206
460
P PRS040 Prostate Cancer 95 0.206
461
TNG002 Tangier Disease 64 0.206
462
DWN001 Down Syndrome 70 0.206
463
TND004 Tendinopathy 45 0.206
464
TND005 Tendinitis 54 0.206
465
P SNS001 Sensorineural Hearing Loss 59 0.206
466
DRR008 Diarrhea 1, Secretory Chloride, Congenital 51 0.206
467
VNH007 Von Hippel-Lindau Syndrome 73 0.206
468
c HRD026 Hereditary Ataxia 46 0.206
469
HMN044 Human Immunodeficiency Virus Type 1 76 0.206
470
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.206
471
HYP267 Hyperchlorhidrosis, Isolated 24 0.206
472
PRM057 Paramyotonia Congenita of Von Eulenburg 58 0.206
473
HYP052 Hyperkalemic Periodic Paralysis 62 0.206
474
c MYT027 Myotonia Congenita, Autosomal Dominant 36 0.206
475
LPT014 Leptin Deficiency or Dysfunction 77 0.206
476
SVR001 Severe Acute Respiratory Syndrome 68 0.206
477
HYP063 Hypersplenism 52 0.206
478
DNT012 Dental Caries 53 0.206
479
IRN002 Iron Metabolism Disease 56 0.206
480
LNG039 Lung Squamous Cell Carcinoma 57 0.206
481
P MXL015 Maxillary Sinusitis 37 0.206
482
P GLL018 Gallbladder Cancer 53 0.206
483
MSC152 Muscular Dystrophy, Becker Type 69 0.206
484
GST019 Gastrointestinal Stromal Tumor 78 0.206
485
P GST044 Gastritis 55 0.206
486
CNG562 Congenital Hypogonadotropic Hypogonadism 28 0.206
487
c HMG003 Hemoglobin E Disease 41 0.206
488
PLM014 Pleomorphic Adenoma 51 0.206
489
P MYT002 Myotonic Dystrophy 51 0.206
490
P PRD021 Periodic Paralysis 42 0.206
491
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 50 0.179
492
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 0.179
493
WLS001 Wilson Disease 70 0.179
494
P TMR010 Tumor Predisposition Syndrome 69 0.179
495
CVD001 Covid-19 58 0.179
496
c HYD064 Hydrocephalus, Congenital, 1 51 0.179
497
JJN004 Jejunal Atresia 36 0.179
498
VLV047 Volvulus of Midgut 55 0.179
499
c INF092 Inflammatory Bowel Disease 9 25 0.179
500
MLR004 Malaria 78 0.179
501
c HYP836 Hypercholesterolemia, Familial, 1 73 0.179
502
ATM095 Autoimmune Disease 61 0.179
503
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.179
504
SRC014 Sarcoma 64 0.179
505
VTM033 Vitamin K Deficiency Bleeding 50 0.179
506
CRD223 Cardiac Arrhythmia 63 0.179
507
HYP060 Hyperinsulinism 53 0.179
508
NPH003 Nephrocalcinosis 49 0.179
509
ATR057 Atrioventricular Block 54 0.179
510
c FML021 Familial Hypercholesterolemia 71 0.179
511
P BNG030 Benign Ependymoma 51 0.179
512
NTR005 Nutritional Deficiency Disease 60 0.179
513
ESP002 Esophageal Varix 51 0.179
514
NRN004 Neuroendocrine Tumor 55 0.179
515
P VSC007 Vascular Disease 62 0.179
516
HYP014 Hyperuricemia 51 0.179
517
AMN001 Amenorrhea 53 0.179
518
PPT001 Peptic Esophagitis 51 0.179
519
P DYS007 Dyskeratosis Congenita 66 0.179
520
OST159 Osteogenic Sarcoma 66 0.179
521
AND002 Androgen Insensitivity Syndrome 63 0.179
522
P BLD036 Bile Duct Disease 43 0.179
523
SPN035 Spindle Cell Sarcoma 51 0.179
524
P TRC031 Trichorhinophalangeal Syndrome 37 0.179
525
PLY012 Polyhydramnios 46 0.179
526
CLL010 Cellular Ependymoma 58 0.179
527
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 68 0.179
528
PRL008 Paralytic Ileus 44 0.179
529
PLC008 Placenta Disease 49 0.179
530
INH023 Inherited Cancer-Predisposing Syndrome 53 0.179
532
c OTP006 Otopalatodigital Syndrome, Type I 60 0.146
533
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.146
534
SCT005 Scott Syndrome 51 0.146
535
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.146
536
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.146
537
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.146
538
c MTC055 Mitochondrial Dna Depletion Syndrome 4b 53 0.146
539
DYS182 Dysphasia, Familial Developmental 34 0.146
541
INV001 Invasive Aspergillosis 48 0.146
542
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.146
543
P PRG092 Pregnancy Loss, Recurrent 1 42 0.146
544
c DRR009 Diarrhea 6 46 0.146
545
P FNC004 Fanconi Syndrome 60 0.146
546
P LKD001 Leukodystrophy 58 0.146
547
c MGR028 Migraine with or Without Aura 1 64 0.146
548
P PRK057 Parkinson Disease, Late-Onset 79 0.146
549
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 65 0.146
550
APP015 Apparent Mineralocorticoid Excess 57 0.146
551
c DWL002 Dowling-Degos Disease 1 58 0.146
552
P SLV027 Silver-Russell Syndrome 1 52 0.146
553
HYD038 Hydrops Fetalis, Nonimmune 57 0.146
554
JHN001 Johanson-Blizzard Syndrome 52 0.146
555
P SLP006 Sleep Apnea 69 0.146
556
APH002 Aphasia 55 0.146
557
WTH001 Withdrawal Disorder 47 0.146
558
ISC015 Ischemic Colitis 43 0.146
559
ISL003 Isolated Growth Hormone Deficiency 57 0.146
560
STR103 Streptococcus Pneumonia 47 0.146
561
c RTN177 Retinitis Pigmentosa 73 36 0.146
562
IFP003 Ifap Syndrome 2 42 0.146
563
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.146
564
P MYC084 Mycobacterium Tuberculosis 1 68 0.146
565
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.146
566
LNG108 Langerhans Cell Histiocytosis 57 0.146
567
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.146
568
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.146
569
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.146
570
P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 38 0.146
571
PRL019 Prolidase Deficiency 50 0.146
572
c PLM164 Pulmonary Hypertension, Primary, 1 80 0.146
573
c SYS001 Systemic Lupus Erythematosus 86 0.146
574
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.146
575
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.146
576
c FRN060 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6 28 0.146
577
ERY061 Erythroderma, Congenital, with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-Ige 38 0.146
578
c LFR007 Li-Fraumeni Syndrome 2 44 0.146
579
P LFR001 Li-Fraumeni Syndrome 73 0.146
580
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 0.146
581
c TBR025 Tuberous Sclerosis 1 84 0.146
582
P ATS364 Autism 72 0.146
583
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.146
584
PRP027 Peripheral Vascular Disease 71 0.146
585
PHR002 Pharyngoconjunctival Fever 32 0.146
586
P TBR001 Tuberous Sclerosis 69 0.146
587
P SBS003 Substance Abuse 54 0.146
588
P PRP019 Peripheral Nervous System Disease 57 0.146
589
TRC003 Trichomoniasis 53 0.146
590
P DMN002 Dementia 65 0.146
591
P GND004 Gonadal Dysgenesis 46 0.146
592
HMS001 Hemosiderosis 48 0.146
593
OLG003 Oligohydramnios 51 0.146
594
P LCT001 Lactic Acidosis 50 0.146
595
P GLM007 Glomerulonephritis 59 0.146
596
LNG031 Lung Benign Neoplasm 51 0.146
597
HST010 Histiocytosis 49 0.146
598
P ART023 Arthropathy 60 0.146
599
c RTN041 Retinitis Pigmentosa 11 43 0.146
600
P ORT004 Orthostatic Intolerance 62 0.146
601
GTL001 Gitelman Syndrome 65 0.146
602
STR067 Stroke, Ischemic 79 0.146
603
DPR016 Depression 65 0.146
604
CRB090 Cerebral Hypoxia 42 0.146
605
DDN009 Duodenal Obstruction 33 0.146
606
RSP006 Respiratory System Disease 51 0.146
607
IDP033 Idiopathic Edema 41 0.146
608
c SPR083 Sporadic Hemiplegic Migraine 28 0.146
609
PRS063 Paresthesia 39 0.146
610
P NRC002 Narcolepsy 55 0.146
611
P CTR002 Cataract 59 0.146
612
END086 End Stage Renal Disease 54 0.146
613
P AMY004 Amyloidosis 69 0.146
614
c BCT013 Bacterial Pneumonia 47 0.146
615
P NRP001 Neuropathy 59 0.146
616
GRW007 Growth Hormone Deficiency 47 0.146
617
DWR001 Dwarfism 45 0.146
618
P ACT105 Acute Mountain Sickness 52 0.146
619
P RRH023 Rare Hereditary Hemochromatosis 53 0.146
620
c ATM064 Autoimmune Pancreatitis Type 1 20 0.146
621
CLP005 Ciliopathy 41 0.146
622
MTC111 Mitochondrial Neurogastrointestinal Encephalomyopathy 47 0.146
623
HRD224 Hereditary Nonpolyposis Colon Cancer 51 0.146
624
c RTN150 Retinitis Pigmentosa 10 44 0.103
625
CNT097 Central Hypoventilation Syndrome, Congenital 70 0.103
626
FCT007 Factor Vii Deficiency 64 0.103
627
P FNC044 Fanconi Anemia, Complementation Group C 56 0.103
628
P MTC003 Metachromatic Leukodystrophy 71 0.103
629
RTN187 Retinitis Pigmentosa-Deafness Syndrome 48 0.103
630
OBS037 Obesity-Hypoventilation Syndrome 44 0.103
631
XRD010 Xeroderma Pigmentosum, Variant Type 72 0.103
632
ABT001 Abetalipoproteinemia 68 0.103
633
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61 0.103
634
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 63 0.103
635
LSC001 Lesch-Nyhan Syndrome 62 0.103
636
FRN006 Frontotemporal Dementia 68 0.103
637
BHR002 Bohring-Opitz Syndrome 48 0.103
638
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 52 0.103
639
c SPC015 Specific Language Impairment 4 12 0.103
640
c BRS111 Breast-Ovarian Cancer, Familial 2 54 0.103
641
c CLR144 Ciliary Dyskinesia, Primary, 44 19 0.103
642
P VTL001 Vitelliform Macular Dystrophy 45 0.103
643
c CNG002 Congenital Bile Acid Synthesis Defect 31 0.103
644
P GRF003 Graft-Versus-Host Disease 71 0.103
645
P USH001 Usher Syndrome 64 0.103
646
P CHR071 Charcot-Marie-Tooth Disease 64 0.103
647
P LCT002 Lactose Intolerance 52 0.103
648
P SHR001 Short Bowel Syndrome 53 0.103
649
P PNM006 Pneumoconiosis 55 0.103
650
OST011 Osteomalacia 52 0.103
651
P PRK039 Parkinsonism 55 0.103
652
XLN228 X-Linked Recessive Disease 23 0.103
653
MCS002 Mucositis 55 0.103
654
c CHR711 Chronic Asthma 41 0.103
655
P DVL113 Developmental and Epileptic Encephalopathy 45 0.103
656
SLD003 Sialadenitis 47 0.103
657
PRM013 Premature Menopause 57 0.103
658
P SKN063 Skin Creases, Congenital Symmetric Circumferential, 1 34 0.103
659
ATH013 Atherosclerosis Susceptibility 63 0.103
660
LYN004 Lynch Syndrome I 60 0.103
661
FCS014 Fucosidase Regulator 15 0.103
662
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 68 0.103
663
HRT031 Hartnup Disorder 51 0.103
664
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.103
665
c GLY060 Glycogen Storage Disease Ia 63 0.103
666
P RNL115 Renal Tubular Acidosis, Proximal 32 0.103
667
c CLR131 Ciliary Dyskinesia, Primary, 1 62 0.103
668
c STR084 Stargardt Disease 1 53 0.103
669
P SPS008 Spastic Ataxia 41 0.103
670
RNL077 Renal Fibrosis 46 0.103
671
ORL015 Oral Squamous Cell Carcinoma 43 0.103
672
MNC002 Munchausen by Proxy 29 0.103
673
P ERL057 Early Infantile Epileptic Encephalopathy 61 0.103
674
P SCL018 Scoliosis 57 0.103
675
BTL002 Beta-Lactam Allergy 34 0.103
676
P DXT004 Dextro-Looped Transposition of the Great Arteries 58 0.103
677
CRH005 Crohn's Colitis 53 0.103
678
c CNG006 Congenital Hypothyroidism 63 0.103
679
c ACT004 Acute Diarrhea 40 0.103
680
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 0.103
681
c TRN038 Transposition of the Great Arteries, Dextro-Looped 1 39 0.103
682
SCK003 Sickle Cell Anemia 74 0.103
683
TST025 Testicular Microlithiasis 29 0.103
684
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.103
685
BRT054 Brittle Bone Disorder 74 0.103
686
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 50 0.103
687
c CLR135 Ciliary Dyskinesia, Primary, 7 28 0.103
688
c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45 0.103
689
JVN004 Juvenile Myelomonocytic Leukemia 67 0.103
690
P MJR001 Major Depressive Disorder 68 0.103
691
HYP748 Hypertelorism 46 0.103
692
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47 0.103
693
ENL011 Enolase, Sperm Specific 11 0.103
694
c EXS019 Exostoses, Multiple, Type I 54 0.103
695
MNR012 Meniere Disease 55 0.103
696
c NRF024 Neurofibromatosis, Type I 76 0.103
697
OCL008 Oculopharyngeal Muscular Dystrophy 53 0.103
698
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 54 0.103
699
PCT003 Pectus Excavatum 43 0.103
700
CLF027 Cleft Palate, Isolated 64 0.103
701
CRT072 Creutzfeldt-Jakob Disease 67 0.103
702
c CLR054 Ciliary Dyskinesia, Primary, 12 26 0.103
703
P MTR004 Maturity-Onset Diabetes of the Young 66 0.103
704
P WSK001 Wiskott-Aldrich Syndrome 72 0.103
705
ARG002 Argininosuccinic Aciduria 61 0.103
706
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 0.103
707
ALX003 Alexander Disease 61 0.103
708
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 0.103
709
GLL008 Gilles De La Tourette Syndrome 64 0.103
710
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 55 0.103
711
DGR001 Digeorge Syndrome 62 0.103
712
WLL001 Williams-Beuren Syndrome 60 0.103
713
P EPL164 Epilepsy 70 0.103
714
c VRL010 Viral Hepatitis 52 0.103
715
c ATM113 Autoimmune Cholangitis 30 0.103
716
TTH002 Tooth Agenesis 61 0.103
717
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.103
718
P MYP006 Myopia 55 0.103
719
P LNG028 Long Qt Syndrome 63 0.103
720
P PRM002 Primary Hyperoxaluria 65 0.103
721
GRM005 Germ Cell Cancer 46 0.103
722
LYM027 Lymphopenia 56 0.103
723
PRP016 Paraplegia 52 0.103
724
P DYS154 Dystonia 64 0.103
725
P TST026 Testicular Germ Cell Cancer 42 0.103
726
P ART018 Aortic Valve Insufficiency 52 0.103
727
ANH002 Anhidrosis 45 0.103
728
c HPT016 Hepatitis B 62 0.103
729
SPL006 Splenic Infarction 37 0.103
730
OPT003 Opiate Dependence 49 0.103
731
P AGM001 Agammaglobulinemia 67 0.103
732
P THR015 Thrombophilia 51 0.103
733
P OST001 Osteopetrosis 70 0.103
734
MNT002 Mental Depression 56 0.103
735
KLB003 Klebsiella Pneumonia 49 0.103
736
P RNL007 Renal Tubular Acidosis 52 0.103
737
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.103
738
P MXD016 Mixed Gonadal Dysgenesis 34 0.103
739
PLS007 Plasmodium Falciparum Malaria 52 0.103
740
FCT008 Factitious Disorder 34 0.103
741
TTH006 Tooth Disease 51 0.103
742
VRC001 Varicocele 48 0.103
743
PLR008 Pleurisy 49 0.103
744
P NPH012 Nephrotic Syndrome 62 0.103
745
SLC006 Silicosis 55 0.103
746
ANT018 Anthracosis 51 0.103
747
P AGN002 Agnosia 53 0.103
748
P LYN001 Lynch Syndrome 76 0.103
749
P TCD001 Tic Disorder 50 0.103
750
ERL001 Early Myoclonic Encephalopathy 63 0.103
751
P MLT074 Multiple Endocrine Neoplasia 58 0.103
752
P PTT006 Pituitary Adenoma 55 0.103
753
ACR005 Acrodermatitis 38 0.103
754
P GLY013 Glycogen Storage Disease 59 0.103
755
BNN003 Bone Inflammation Disease 47 0.103
756
P KLL001 Kallmann Syndrome 65 0.103
757
P ECT006 Ectodermal Dysplasia 62 0.103
758
P AML002 Amelogenesis Imperfecta 56 0.103
759
MYP136 Myopathy, Centronuclear, X-Linked 58 0.103
760
P CTR177 Citrullinemia, Type Ii, Adult-Onset 55 0.103
761
ANR007 Anorexia Nervosa 59 0.103
762
DRV001 Dravet Syndrome 70 0.103
763
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 0.103
764
c OPT051 Opitz Gbbb Syndrome, Type I 45 0.103
765
ANG004 Angioid Streaks 40 0.103
766
NRM005 Neuromuscular Disease 63 0.103
767
P CNG048 Congenital Hepatic Fibrosis 36 0.103
768
SRF006 Surfactant Dysfunction 33 0.103
769
DYS073 Dysphagia 53 0.103
770
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 48 0.103
771
OHT001 Ohtahara Syndrome 39 0.103
772
P HYP265 Hypotonia 42 0.103
773
CHL045 Choline Deficiency Disease 39 0.103
774
P PLL002 Pellagra 46 0.103
775
DYS032 Dystrophinopathies 47 0.103
777
DXT001 Dextrocardia 55 0.103
778
P MTR014 Motor Neuron Disease 65 0.103
779
P DNT009 Dentin Dysplasia 40 0.103
780
KDN013 Kidney Hypertrophy 33 0.103
781
CLF001 Cleft Lip 54 0.103
782
VRL011 Viral Infectious Disease 60 0.103
783
HMN014 Human Immunodeficiency Virus Infectious Disease 54 0.103
784
P HYP087 Hypotrichosis 41 0.103
785
CLN019 Colonic Disease 47 0.103
786
c JVN010 Juvenile Rheumatoid Arthritis 66 0.103
787
ADN001 Adenosine Deaminase Deficiency 59 0.103
788
c HRD088 Hereditary Neuropathies 34 0.103
789
c PRM158 Primary Intestinal Lymphangiectasia 29 0.103
790
ADR022 Adrenomyeloneuropathy 39 0.103
791
c BRT024 Bartter Syndrome Type 4 25 0.103
792
BRT037 Brittle Diabetes 24 0.103
793
ANT024 Anthrax Disease 58 0.103
794
PPT005 Peptic Ulcer Disease 58 0.103
795
P AXN001 Axonal Neuropathy 33 0.103
796
ALB002 Albinism 47 0.103
797
P GNT009 Giant Axonal Neuropathy 44 0.103
798
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 33 0.103
799
HTR003 Heterotaxy 44 0.103
800
MSC012 Muscular Dystrophy, Duchenne and Becker Type 33 0.103
801
PLM033 Pulmonary Embolism 58 0.103
802
EXP004 Exophthalmos 50 0.103
803
ETN001 Eating Disorder 59 0.103
804
DXT002 Dextrocardia with Situs Inversus 44 0.103
805
ENT007 Enteropathica 24 0.103
806
DFC001 Defective Apolipoprotein B-100 24 0.103
807
FBR019 Fibromatosis 44 0.103
808
LYM035 Lymphangiectasis 30 0.103
809
MNG006 Monogenic Diabetes 45 0.103
810
MYC017 Mycobacterium Kansasii 36 0.103
811
DYT002 Dyt1 Early-Onset Isolated Dystonia 13 0.103
812
P TYR004 Tyrosinemia 49 0.103
813
ACC005 Accessory Pancreas 19 0.103
814
PST092 Posttransplant Acute Limbic Encephalitis 29 0.103
815
ADR057 Adrenogenital Syndrome 32 0.103
816
SRR001 Serrated Polyposis Syndrome 42 0.103
817
CLF004 Cleft Lip/palate 57 0.103
818
NNT046 Neonatal Dermatomyositis 11 0.103
819
c ATM063 Autoimmune Pancreatitis Type 2 16 0.103
820
ACQ026 Acquired Pseudoxanthoma Elasticum 12 0.103
821
HMZ003 Homozygous Familial Hypercholesterolemia 60 0.103
822
c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 42 0.103
823
c ACT134 Acute Liver Failure 57 0.103
824
ACR120 Acrokeratoderma 13 0.103
825
c PTR022 Paternal Uniparental Disomy of Chromosome 7 6 0.103
826
c MYC068 Myoclonic Epilepsy of Infancy 34 0.103
827
PTR034 Paternal Uniparental Disomy 19 0.103
828
CLS049 Classic Phenylketonuria 42 0.103
Content
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