Search results for t

6829 hits were found for t

# Family MCID Name MIFTS Score
1
SVR096 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative 44 5.678
2
c ADL017 Adult T-Cell Leukemia 63 4.904
3
SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 39 4.843
4
TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 26 4.697
5
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 4.340
6
SVR066 Severe Combined Immunodeficiency, X-Linked 63 4.045
7
EXT048 Extranodal Nasal Nk/t Cell Lymphoma 29 3.887
8
IMM015 Immune Defect Due to Absence of Thymus 42 3.826
9
P CTN015 Cutaneous T Cell Lymphoma 56 3.814
10
c TCL005 T-Cell Prolymphocytic Leukemia 53 3.549
11
c ACT020 Acute T Cell Leukemia 48 3.544
12
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 38 3.443
13
PRP036 Peripheral T-Cell Lymphoma 48 3.323
14
P TCL004 T-Cell Leukemia 50 3.288
15
c LKM062 Leukemia, Acute Lymphoblastic 64 3.090
16
ENT008 Enteropathy-Associated T-Cell Lymphoma 37 3.090
17
BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 54 3.029
18
TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 20 2.973
19
IMM065 Immunodeficiency 10 27 2.972
20
IMM102 Immunodeficiency 14 49 2.970
21
IMM066 Immunodeficiency 9 23 2.970
22
TCL022 T-Cell Receptor-Alpha/beta Deficiency 19 2.965
23
ANG046 Angioimmunoblastic T-Cell Lymphoma 46 2.943
24
c LKM005 Leukemia, T-Cell, Chronic 25 2.778
25
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 53 2.746
26
IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 21 2.729
27
IMM141 Immunodeficiency 49 21 2.714
28
EMN001 Emanuel Syndrome 37 2.710
29
ECT106 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 24 2.709
30
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 36 2.562
31
ACT119 Acute Promyelocytic Leukemia 64 2.511
32
c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 28 2.489
33
SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 33 2.447
34
IMM081 Immunodeficiency 19 41 2.434
35
IMM143 Immunodeficiency 48 24 2.429
36
JK3001 Jak3-Deficient Severe Combined Immunodeficiency 35 2.425
37
c FNC052 Fanconi Anemia, Complementation Group T 20 2.419
38
ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 8 2.416
39
TCL003 T Cell Deficiency 43 2.228
40
TCL002 T-Cell Large Granular Lymphocyte Leukemia 48 2.201
41
TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 39 2.164
42
SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 38 2.118
43
PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 13 2.111
44
c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 23 2.108
45
SPR123 Supernumerary Der(22)t(8 13 2.103
46
PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28 2.101
47
TCL006 T Cell Immunodeficiency Primary 9 2.099
48
TCL019 T-Cell Childhood Lymphoblastic Lymphoma 7 2.099
49
SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 7 2.097
50
c HMN021 Human T-Cell Leukemia Virus Type 1 52 1.991
51
MYL057 Myelopathy, Htlv-1-Associated 38 1.873
52
LRG008 Large Granular Lymphocyte Leukemia 49 1.848
53
HPT070 Hepatosplenic T-Cell Lymphoma 43 1.846
54
CMB081 Combined Immunodeficiency, X-Linked 64 1.837
55
c HMN022 Human T-Cell Leukemia Virus Type 2 43 1.776
56
ADN001 Adenosine Deaminase Deficiency 52 1.767
57
IMM184 Immunodeficiency 17 42 1.746
58
TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 20 1.737
59
c TCL008 T-Cell Lymphoma 1a 16 1.734
60
TBR006 Tuberculoid Leprosy 46 1.730
61
PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 12 1.728
62
SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 27 1.727
63
c HMN023 Human T-Cell Leukemia Virus Type 3 7 1.722
64
P TLN014 Tl Antigen 17 1.720
65
IMM171 Immunodeficiency with Defective T-Cell Response to Interleukin 1 13 1.720
66
PDT026 Pediatric T-Cell Leukemia 4 1.720
67
c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 25 1.717
68
c ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 25 1.715
69
c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 18 1.715
70
P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 17 1.715
71
TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7 1.715
72
TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 19 1.712
73
INF127 Infective Dermatitis Associated with Htlv-1 16 1.712
74
MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 8 1.712
75
CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 6 1.712
76
P ATX030 Ataxia-Telangiectasia 80 1.354
77
SVR004 Severe Combined Immunodeficiency 71 1.345
78
P LNG028 Long Qt Syndrome 63 1.291
79
c MLG054 Malignant Histiocytosis 48 1.270
80
CD4008 Cd4/cd8 T-Cell Ratio 19 1.252
81
HTL001 Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis 32 1.249
82
PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 17 1.240
83
BND002 B- and T-Cell Mixed Leukemia 9 1.231
84
NTH001 Netherton Syndrome 60 1.228
85
RFR007 Refractory Anemia with Excess Blasts in Transformation 25 1.226
86
c TSB001 T-Substance Anomaly 12 1.224
87
c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7 1.224
88
SPL064 Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells 9 1.221
89
TCL020 T-Cell Subgroups, Non-Hla-Linked 3 1.218
90
PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5 1.214
91
TBX002 T-Box 24 3 1.214
92
TCM001 T-Complex Locus Tcp10b 3 1.214
93
CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 15 1.210
94
ZP7001 Zap70-Related Severe Combined Immunodeficiency 12 1.210
95
LYM044 Lymphocytic Infiltrate of Jessner 11 1.210
96
TNG001 Tungiasis 40 1.205
97
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18 1.205
98
P LYM118 Lymphoma 71 0.491
99
P LKM002 Leukemia 75 0.458
100
P LYM026 Lymphoblastic Leukemia 66 0.198
101
P HPT021 Hepatitis 75 0.163
102
LYM019 Lymphosarcoma 58 0.162
103
LYM024 Lymphatic System Disease 45 0.156
104
P ART022 Arthritis 77 0.154
105
c BLD140 Blood Group, I System 37 0.150
106
MLN008 Melanoma 72 0.145
107
P MYL006 Myeloid Leukemia 69 0.139
108
P MLT020 Multiple Sclerosis 85 0.139
109
P BRS047 Breast Cancer 100 0.134
110
c LKM061 Leukemia, Acute Myeloid 81 0.133
111
P GRF003 Graft-Versus-Host Disease 72 0.131
112
P RHM011 Rheumatoid Arthritis 91 0.131
113
P BCL006 B-Cell Lymphomas 70 0.129
114
END072 Endotheliitis 46 0.123
115
LYM040 Lymphoblastic Lymphoma 58 0.121
116
P LPS004 Lupus Erythematosus 69 0.118
117
c SYS001 Systemic Lupus Erythematosus 86 0.113
118
AST005 Asthma 83 0.113
119
IMM136 Immune System Disease 57 0.112
120
c BRS110 Breast-Ovarian Cancer, Familial 1 38 0.110
121
P MYC084 Mycobacterium Tuberculosis 1 69 0.109
122
BRC084 Brca1 Hereditary Breast and Ovarian Cancer Syndrome 32 0.109
123
VRL011 Viral Infectious Disease 64 0.109
124
c LKM071 Leukemia, Chronic Lymphocytic 75 0.108
125
c BRS111 Breast-Ovarian Cancer, Familial 2 19 0.107
126
HMN044 Human Immunodeficiency Virus Type 1 71 0.106
127
BRC085 Brca2 Hereditary Breast and Ovarian Cancer Syndrome 15 0.106
128
HMT018 Hematopoietic Stem Cell Transplantation 58 0.105
129
LYM143 Lymphoma, Non-Hodgkin, Familial 71 0.104
130
P HYP607 Hypercholesterolemia, Familial 81 0.104
131
c HPT016 Hepatitis B 68 0.104
132
P LYN001 Lynch Syndrome 71 0.103
133
MYC006 Mycosis Fungoides 73 0.103
134
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 52 0.101
135
AGN016 Aging 65 0.100
136
c LKM004 Leukemia, B-Cell, Chronic 37 0.099
137
PRL017 Prolymphocytic Leukemia 51 0.099
138
P CLR023 Colorectal Cancer 98 0.098
139
c LYN004 Lynch Syndrome I 59 0.098
140
DRM006 Dermatitis 67 0.098
141
P THY032 Thyroiditis 56 0.098
142
SPS057 Spasticity 41 0.097
143
P ACT074 Acute Lymphocytic Leukemia 61 0.096
144
SPS019 Spastic Paraparesis 33 0.096
145
TRP002 Tropical Spastic Paraparesis 58 0.095
146
MYL069 Myeloma, Multiple 86 0.095
147
P LNG032 Lung Cancer 99 0.094
148
MYL009 Myelodysplastic Syndrome 75 0.092
149
PNN001 Panniculitis 48 0.092
150
LYM067 Lymphoid Leukemia 43 0.091
151
c HPT001 Hepatitis C 73 0.090
152
LYM027 Lymphopenia 56 0.090
153
P HPT023 Hepatocellular Carcinoma 94 0.089
154
LYM133 Lymphoma, Hodgkin, Classic 78 0.089
155
SRC014 Sarcoma 68 0.087
156
P INF038 Influenza 77 0.085
157
c ACT135 Acute Graft Versus Host Disease 57 0.085
158
ACQ007 Acquired Immunodeficiency Syndrome 65 0.084
159
P MYC007 Myocardial Infarction 81 0.084
160
P PSR002 Psoriasis 65 0.082
161
ATM095 Autoimmune Disease 66 0.082
162
P ADN016 Adenocarcinoma 71 0.081
163
c LKM056 Leukemia, Chronic Lymphocytic 2 35 0.079
164
P ANP001 Anaplastic Large Cell Lymphoma 60 0.079
165
P PRS040 Prostate Cancer 88 0.078
166
LYM009 Lymphocytic Choriomeningitis 46 0.078
167
RNL114 Renal Cell Carcinoma, Nonpapillary 68 0.078
168
PRS047 Prostatitis 59 0.078
169
MSC157 Muscular Dystrophy, Duchenne Type 74 0.077
170
PST011 Pustulosis of Palm and Sole 47 0.077
171
DFF005 Diffuse Large B-Cell Lymphoma 64 0.077
172
MCS002 Mucositis 61 0.076
173
c CHR417 Chronic Graft Versus Host Disease 65 0.076
174
c ACT073 Acute Leukemia 61 0.075
175
P FLL037 Follicular Lymphoma 76 0.075
176
c HPT073 Hepatitis C Virus 73 0.075
177
P LVR013 Liver Disease 76 0.074
178
SQM006 Squamous Cell Carcinoma 74 0.072
179
P DRM053 Dermatitis, Atopic 68 0.072
180
CLT003 Colitis 63 0.072
181
CYS001 Cystic Fibrosis 85 0.070
182
HML018 Homologous Wasting Disease 18 0.070
183
P DBT009 Diabetes Mellitus 72 0.069
184
P CRN018 Coronary Artery Anomaly 69 0.069
185
P OVR042 Ovarian Cancer 82 0.069
186
ALP046 Alport Syndrome, X-Linked 74 0.068
187
ART140 Arteries, Anomalies of 51 0.068
188
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 41 0.068
189
P HRT032 Heart Disease 80 0.067
190
P PNC044 Pancreatitis 64 0.067
191
c LKM063 Leukemia, Chronic Myeloid 80 0.066
192
PLY150 Polykaryocytosis Inducer 20 0.065
193
GST053 Gastric Cancer 84 0.065
194
P EHL052 Ehlers-Danlos Syndrome, Vascular Type 56 0.065
195
P GLM045 Glioma 61 0.064
196
MLR004 Malaria 86 0.064
197
CMM004 Common Variable Immunodeficiency 71 0.063
198
P HYP061 Hypertrophic Cardiomyopathy 65 0.062
199
CYT008 Cytomegalovirus Infection 57 0.062
200
SZR001 Sezary's Disease 58 0.062
201
APL001 Aplastic Anemia 74 0.061
202
ALL006 Allergic Asthma 60 0.061
203
SQM013 Squamous Cell Carcinoma, Head and Neck 79 0.061
204
ISC004 Ischemia 66 0.061
205
c HPT003 Hepatitis a 63 0.060
206
P HRP006 Herpes Simplex 70 0.060
207
P LPR021 Leprosy 3 59 0.060
208
GLB002 Glioblastoma 74 0.060
209
HSH003 Hashimoto Thyroiditis 67 0.060
210
ALL014 Allergic Encephalomyelitis 37 0.060
211
P MYC008 Myocarditis 58 0.059
212
P CRV039 Cervicitis 49 0.059
213
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.059
214
MRF001 Marfan Syndrome 75 0.059
215
EWN002 Ewing's Family of Tumors 49 0.059
216
c CRD187 Cardiomyopathy, Dilated, 3b 46 0.059
217
ATM052 Autoimmune Disease 1 30 0.059
218
P PNM007 Pneumonia 70 0.058
219
P GRV001 Graves' Disease 62 0.058
220
CRB009 Cerebritis 41 0.058
221
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.058
222
CRH001 Crohn's Disease 80 0.058
223
LTH001 Lethal Midline Granuloma 40 0.058
224
MNT001 Mantle Cell Lymphoma 76 0.058
225
c HMP029 Hemophilia a 69 0.058
226
SKN016 Skin Disease 68 0.058
227
P PSD087 Pseudoxanthoma Elasticum 67 0.058
228
P HMR003 Hemorrhagic Disease 61 0.058
229
P RTN024 Retinoblastoma 76 0.057
230
PLS009 Plasma Cell Neoplasm 51 0.057
231
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.057
232
c ACT075 Acute Myocardial Infarction 64 0.057
233
P UVT001 Uveitis 61 0.057
234
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.057
235
PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 48 0.057
236
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.057
237
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.057
238
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.057
239
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.057
240
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.057
241
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.057
242
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.057
243
P BLD051 Blood Coagulation Disease 38 0.057
244
LSH001 Leishmaniasis 71 0.056
245
P INF037 Inflammatory Bowel Disease 52 0.056
246
P RTN008 Retinitis Pigmentosa 81 0.056
247
P DLT002 Dilated Cardiomyopathy 76 0.056
248
P ESP024 Esophagitis 64 0.056
249
c CLR131 Ciliary Dyskinesia, Primary, 1 54 0.056
250
P PNC035 Pancreatic Cancer 89 0.056
251
VSC008 Vascular Hemostatic Disease 36 0.056
252
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67 0.055
253
P ENC004 Encephalitis 66 0.055
254
P KLZ004 Kala-Azar 1 31 0.055
255
RTN023 Retinitis 52 0.055
256
RTC005 Reticulosarcoma 49 0.055
257
ACT118 Acute Non Lymphoblastic Leukemia 32 0.055
258
c TBR025 Tuberous Sclerosis 1 63 0.054
259
P TBR001 Tuberous Sclerosis 69 0.053
260
VCC001 Vaccinia 50 0.053
261
LYM052 Lymphomatoid Papulosis 45 0.053
262
NRN002 Neuronitis 43 0.053
263
P PRM011 Primary Ciliary Dyskinesia 57 0.053
264
P WSK001 Wiskott-Aldrich Syndrome 76 0.053
265
c PLM164 Pulmonary Hypertension, Primary, 1 67 0.053
266
c FML346 Familial Adenomatous Polyposis 1 63 0.053
267
P KBK002 Kabuki Syndrome 1 62 0.053
268
P RNG031 Ring Chromosome Y Syndrome 29 0.053
269
P ALZ034 Alzheimer Disease 95 0.052
270
P PLM037 Pulmonary Hypertension 79 0.052
271
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 67 0.052
272
c TBR026 Tuberous Sclerosis 2 65 0.052
273
PRP030 Purpura 61 0.052
274
IMM158 Immune Suppression 57 0.052
275
INT038 Interdigitating Dendritic Cell Sarcoma 46 0.052
276
MYL031 Myeloproliferative Neoplasm 64 0.052
277
MSC152 Muscular Dystrophy, Becker Type 64 0.052
278
P RTT002 Rett Syndrome 82 0.052
279
TTN003 Tetanus 65 0.052
280
DPH001 Diphtheria 63 0.052
281
RTC009 Reticulum Cell Sarcoma 51 0.052
282
VSC011 Vasculitis 66 0.051
283
P CLC063 Celiac Disease 1 65 0.051
284
c FML191 Familial Long Qt Syndrome 43 0.051
285
P CRV035 Cervical Cancer 72 0.051
286
c SML038 Small Cell Cancer of the Lung 67 0.051
287
c NRF024 Neurofibromatosis, Type I 63 0.051
288
ANG025 Angioimmunoblastic Lymphadenopathy with Dysproteinemia 44 0.051
289
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.051
290
ESP021 Esophageal Cancer 79 0.050
291
PRT037 Pertussis 70 0.050
292
c OVR114 Ovarian Cancer 1 54 0.050
293
P PRD008 Periodontitis 67 0.050
294
HPD002 Hepadnavirus Infection 14 0.050
295
ULC004 Ulcerative Colitis 80 0.050
296
SKN019 Skin Melanoma 63 0.050
297
PLM001 Pulmonary Tuberculosis 72 0.049
298
P THY023 Thymoma 65 0.049
299
c CRN139 Cornelia De Lange Syndrome 1 46 0.049
300
P FML011 Familial Adenomatous Polyposis 71 0.049
301
BRK010 Burkitt Lymphoma 71 0.049
302
P HMP002 Hemophagocytic Lymphohistiocytosis 67 0.049
303
ALL026 Allergic Hypersensitivity Disease 59 0.049
304
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.049
305
P NRB001 Neuroblastoma 73 0.048
306
GLC006 Galactosemia 64 0.048
307
P CRN300 Coronary Heart Disease 1 57 0.048
308
P KDN018 Kidney Disease 69 0.048
309
P THL005 Thalassemia 65 0.048
310
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 62 0.048
311
PHN003 Phenylketonuria 73 0.047
312
P HYP086 Hypothyroidism 62 0.047
313
c STR084 Stargardt Disease 1 51 0.047
314
SKN027 Skin Conditions 48 0.047
315
P MYS003 Myasthenia Gravis 73 0.047
316
P RHN004 Rhinitis 62 0.047
317
P INF032 Infertility 59 0.047
318
c THY107 Thymoma, Familial 34 0.047
319
P INT068 Intestinal Disease 65 0.047
320
c ATM011 Autoimmune Hepatitis 63 0.047
321
NNS044 Non-Syndromic Genetic Deafness 22 0.047
322
GLB015 Glioblastoma Multiforme 68 0.046
323
CNN005 Connective Tissue Disease 65 0.046
324
P THR014 Thrombocytopenia 65 0.046
325
c SCL052 Scleroderma, Familial Progressive 60 0.046
326
CHR103 Charge Syndrome 59 0.046
327
RLP002 Relapsing-Remitting Multiple Sclerosis 59 0.046
328
P PRM006 Primary Biliary Cirrhosis 55 0.046
329
P HST010 Histiocytosis 60 0.046
330
PLM012 Pulmonary Sarcoidosis 58 0.046
331
P PMP001 Pemphigus 55 0.046
332
c WLM018 Wilms Tumor 5 49 0.046
333
BRS051 Breast Disease 67 0.045
334
PRT036 Peritonitis 67 0.045
335
GST050 Gastrointestinal System Disease 66 0.045
336
PRR002 Pure Red-Cell Aplasia 52 0.045
337
FBR012 Fabry Disease 72 0.045
338
P CHR285 Chronic Myelomonocytic Leukemia 63 0.045
339
P STS008 Sotos Syndrome 1 56 0.045
340
c BLR024 Biliary Cirrhosis, Primary, 1 35 0.045
341
c MYS011 Myasthenia Gravis Congenital 28 0.045
342
CRB190 Cerebellar Degeneration-Related Autoantigen 3 26 0.045
343
P ANR048 Aniridia 1 68 0.044
344
P GLM007 Glomerulonephritis 61 0.044
345
c ATM022 Autoimmune Myocarditis 40 0.044
346
P MNN013 Meningitis 71 0.043
347
ALL003 Allergic Rhinitis 68 0.043
348
LNG099 Lung Disease 67 0.043
349
PLY156 Polycystic Kidney Disease 4 with or Without Hepatic Disease 56 0.043
350
c PLY141 Polycystic Kidney Disease 5 42 0.043
351
c CRD080 Cardiomyopathy, Dilated, 1g 17 0.043
352
THR024 Thrombosis 61 0.043
353
ISC006 Ischemic Heart Disease 73 0.043
354
P NRP001 Neuropathy 63 0.043
355
P MYS005 Myositis 63 0.043
356
P MYL005 Myelofibrosis 75 0.042
357
P HYP098 Hypereosinophilic Syndrome 65 0.042
358
RHM027 Rheumatic Disease 62 0.042
359
HYP266 Hypoxia 61 0.042
360
TXC005 Toxic Shock Syndrome 61 0.042
361
GST040 Gastric Adenocarcinoma 60 0.042
362
P MNC007 Monocytic Leukemia 59 0.042
363
P RHB003 Rhabdomyosarcoma 61 0.042
364
P NTR004 Neutropenia 60 0.042
365
PRS042 Prostate Disease 56 0.042
366
PRG009 Progressive Multifocal Leukoencephalopathy 55 0.042
367
LPR001 Lepromatous Leprosy 53 0.042
368
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.042
369
CYT004 Cytomegalic Inclusion Disease 35 0.042
370
P BLD134 Bladder Cancer 78 0.041
371
P SCH015 Schizophrenia 71 0.041
372
P LNG064 Lung Cancer Susceptibility 3 64 0.041
373
ANR040 Aneurysm 61 0.041
374
SFT003 Soft Tissue Sarcoma 58 0.041
375
P ALP008 Alopecia 56 0.041
376
BRN028 Brain Cancer 72 0.041
377
INC002 Inclusion Body Myositis 64 0.041
378
P HML002 Hemolytic Anemia 62 0.041
379
P LCH002 Lichen Planus 58 0.041
380
URN009 Urinary System Disease 58 0.041
381
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.041
382
P FNC027 Fanconi Anemia, Complementation Group a 78 0.040
383
CHG001 Chagas Disease 72 0.040
384
HMT002 Hematologic Cancer 64 0.040
385
P ART021 Arteriosclerosis 62 0.040
386
KRT019 Keratitis, Hereditary 62 0.040
387
P STR022 Stargardt Disease 58 0.040
388
NRN004 Neuroendocrine Tumor 58 0.040
389
c MLG074 Malignant Mesenchymoma 51 0.040
390
P NNN008 Noonan Syndrome 1 77 0.040
391
c BTT014 Beta-Thalassemia 70 0.040
392
P JBR020 Joubert Syndrome 1 68 0.040
393
P ALP009 Alopecia Areata 64 0.040
394
SRC027 Sarcoma, Synovial 58 0.040
395
SPN051 Spondylitis 55 0.040
396
c ADL052 Adult Acute Lymphocytic Leukemia 47 0.040
397
c NNS007 Nonsyndromic Deafness 44 0.040
398
HDG004 Hodgkin's Granuloma 28 0.040
399
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 27 0.040
400
HDG006 Hodgkin's Paragranuloma 21 0.040
401
P MDL005 Medulloblastoma 76 0.039
402
P ART023 Arthropathy 68 0.039
403
BRR014 Barrett Esophagus 64 0.039
404
MTH078 Methylmalonic Aciduria, Cblb Type 56 0.039
405
CHN016 Cohen Syndrome 48 0.039
406
c WLM011 Wilms Tumor 6 44 0.039
407
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.039
408
c SPN225 Spondyloarthropathy 1 71 0.039
409
P NJM001 Nijmegen Breakage Syndrome 69 0.039
410
MSL001 Measles 64 0.039
411
PNC033 Pancreas Adenocarcinoma 63 0.039
412
PNC034 Pancreas Disease 59 0.039
413
P PLY041 Polymyositis 57 0.039
414
MRG003 Marginal Zone B-Cell Lymphoma 56 0.039
415
HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 45 0.039
416
CHR276 Chronic Active Epstein-Barr Virus Infection 44 0.039
417
CHP002 Chops Syndrome 40 0.039
418
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29 0.039
419
WLS001 Wilson Disease 72 0.038
420
P END044 Endometriosis 71 0.038
421
P MPL001 Maple Syrup Urine Disease 66 0.038
422
VSC003 Visceral Leishmaniasis 59 0.038
423
c LKM070 Leukemia, Acute Monocytic 55 0.038
424
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54 0.038
425
STM007 Stomatitis 52 0.038
426
c NPH055 Nephrotic Syndrome, Type 1 46 0.038
427
INF009 Inflammatory Spondylopathy 32 0.038
428
CNG034 Congestive Heart Failure 74 0.038
429
P CND004 Candidiasis 61 0.038
430
HRY003 Hairy Cell Leukemia 60 0.038
431
DMY004 Demyelinating Disease 58 0.038
432
NRT004 Neuritis 55 0.038
433
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.038
434
P GLY010 Glycine Encephalopathy 52 0.038
435
P HRD009 Hereditary Wilms' Tumor 46 0.038
436
c FML008 Familial Retinoblastoma 33 0.038
437
P NSP012 Nasopharyngeal Carcinoma 71 0.037
438
c ATM006 Autoimmune Lymphoproliferative Syndrome 71 0.037
439
P AST007 Astrocytoma 66 0.037
440
RSP006 Respiratory System Disease 63 0.037
441
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 59 0.037
442
BLD131 Bladder Urothelial Carcinoma 55 0.037
443
c CWD006 Cowden Syndrome 1 54 0.037
444
c HMP004 Hemophilia B 67 0.036
445
P PMP005 Pemphigus Vulgaris 56 0.036
446
BTN003 Biotinidase Deficiency 56 0.036
447
ACT103 Acute Lymphoblastic Leukemia, Childhood 53 0.036
448
MYP136 Myopathy, Centronuclear, X-Linked 46 0.036
449
RHY001 Rhyns Syndrome 44 0.036
450
P EPL164 Epilepsy 70 0.036
451
CTN007 Cutaneous Leishmaniasis 66 0.036
452
P DRM010 Dermatomyositis 65 0.036
453
P PLR004 Pleuropulmonary Blastoma 62 0.036
454
c USH036 Usher Syndrome, Type I 61 0.036
455
P LPS002 Liposarcoma 61 0.036
456
DGR001 Digeorge Syndrome 55 0.036
457
SPP011 Suppression of Tumorigenicity 12 41 0.036
458
c PSR018 Psoriasis 13 39 0.036
459
OST012 Osteoarthritis 88 0.035
460
P PHC003 Pheochromocytoma 72 0.035
461
c JVN004 Juvenile Myelomonocytic Leukemia 70 0.035
462
P KDN017 Kidney Cancer 66 0.035
463
P ASP006 Aspergillosis 65 0.035
464
HLC007 Helicobacter Pylori Infection 64 0.035
465
ADN018 Adenoma 63 0.035
466
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 63 0.035
467
P HMP007 Hemophilia 61 0.035
468
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 60 0.035
469
BRN002 Bronchiolitis 59 0.035
470
P ENC018 Encephalopathy 58 0.035
471
P MYS033 Miyoshi Muscular Dystrophy 1 48 0.035
472
DDN006 Duodenitis 46 0.035
473
MDS022 Mediastinitis 44 0.035
474
c HYP794 Hyperoxaluria, Primary, Type I 41 0.035
475
MLD010 Mild Phenylketonuria 22 0.035
476
P DBT085 Diabetes Mellitus, Insulin-Dependent 69 0.035
477
c WLM013 Wilms Tumor 1 69 0.035
478
c MLG068 Malignant Glioma 66 0.035
479
RCT015 Reactive Arthritis 65 0.035
480
NRM005 Neuromuscular Disease 60 0.035
481
LST001 Listeriosis 55 0.035
482
c CRN243 Carney Complex, Type 1 35 0.035
483
DCR007 Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 19 0.035
484
DCR009 Dicer1-Related Disorders 16 0.035
485
THY028 Thyroid Cancer 72 0.034
486
P MYP004 Myopathy 69 0.034
487
CNT047 Contact Dermatitis 64 0.034
488
P ANG001 Angelman Syndrome 61 0.034
489
P BRG001 Brugada Syndrome 61 0.034
490
P GST044 Gastritis 61 0.034
491
IGR001 Ige Responsiveness, Atopic 56 0.034
492
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55 0.034
493
HMG002 Hemoglobinuria 52 0.034
494
STR072 Stromal Keratitis 50 0.034
495
c USH037 Usher Syndrome, Type Iia 45 0.034
496
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.034
497
c PMP006 Pemphigus Vulgaris, Familial 26 0.034
498
PRC002 Paracoccidioidomycosis 59 0.034
499
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 53 0.034
500
ORL013 Oral Lichen Planus 51 0.034
501
c RBN021 Rubinstein-Taybi Syndrome 1 50 0.034
502
NDL021 Nodular Lymphocyte Predominant Hodgkin Lymphoma 49 0.034
503
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49 0.034
504
SLP001 Sleeping Sickness 48 0.034
505
RFR010 Refractory Anemia 48 0.034
506
P BRN120 Bronchus Cancer 39 0.034
507
VNH007 Von Hippel-Lindau Syndrome 72 0.033
508
KWS002 Kawasaki Disease 72 0.033
509
P LFR001 Li-Fraumeni Syndrome 72 0.033
510
VSC007 Vascular Disease 71 0.033
511
GNG013 Gingivitis 64 0.033
512
MNK001 Menkes Disease 64 0.033
513
ALL010 Allergic Contact Dermatitis 60 0.033
514
MRK001 Merkel Cell Carcinoma 59 0.033
515
FDL002 Food Allergy 55 0.033
516
PND002 Pendred Syndrome 55 0.033
517
P CLL015 Collagen Disease 53 0.033
518
PLR008 Pleurisy 52 0.033
519
NSP002 Nasopharyngitis 46 0.033
520
c PSR017 Psoriasis 2 40 0.033
521
c PSR028 Psoriasis 7 37 0.033
522
CMP001 Composite Lymphoma 36 0.033
523
c PSR032 Psoriasis 11 35 0.033
524
c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27 0.033
525
P HYD015 Hydroa Vacciniforme 22 0.033
526
ANR038 Anorexia Nervosa 1 21 0.033
527
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.033
528
BLD137 Blood Group--Ahonen 17 0.033
529
CDK005 Cdkl5-Related Disorder 17 0.033
530
OMN001 Omenn Syndrome 68 0.032
531
LGH007 Leigh Syndrome 68 0.032
532
P CNJ013 Conjunctivitis 67 0.032
533
c CNT035 Central Nervous System Disease 65 0.032
534
CHL123 Chlamydia 64 0.032
535
CRB011 Cerebrotendinous Xanthomatosis 64 0.032
536
YLL002 Yellow Fever 63 0.032
537
LNG039 Lung Squamous Cell Carcinoma 60 0.032
538
P HYP726 Hypercalcemia, Infantile, 1 57 0.032
539
c ANM038 Anemia, Autoimmune Hemolytic 56 0.032
540
P CHL066 Cholangitis 52 0.032
541
LYM051 Lymphomatoid Granulomatosis 51 0.032
542
PNC001 Pancytopenia 50 0.032
543
OST062 Osteoarthritis with Mild Chondrodysplasia 43 0.032
544
P NRV007 Nervous System Disease 75 0.032
545
LVR012 Liver Cirrhosis 73 0.032
546
P PLY011 Polycystic Ovary Syndrome 65 0.032
547
P TXP001 Toxoplasmosis 65 0.032
548
c GLY008 Glycogen Storage Disease Ii 64 0.032
549
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 0.032
550
PLM031 Poliomyelitis 64 0.032
551
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62 0.032
552
TNS005 Tonsillitis 61 0.032
553
P MLN066 Melanoma, Cutaneous Malignant 1 60 0.032
554
P PLY019 Polyneuropathy 58 0.032
555
MYX005 Myxoid Liposarcoma 56 0.032
556
P OST135 Osteogenesis Imperfecta, Type I 56 0.032
557
P LYM033 Lymphoproliferative Syndrome 55 0.032
558
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 53 0.032
559
MYL001 Myelitis 52 0.032
560
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 50 0.032
561
c MTR019 Maturity-Onset Diabetes of the Young, Type 2 45 0.032
562
GLC008 Glucose Metabolism Disease 38 0.032
563
PTN006 Pten Hamartoma Tumor Syndrome 38 0.032
564
BRN018 Borna Disease 38 0.032
565
ENT004 Enthesopathy 38 0.032
566
DWN001 Down Syndrome 70 0.031
567
P NPH012 Nephrotic Syndrome 60 0.031
568
P HMR012 Hemorrhagic Fever 60 0.031
569
GNT003 Genital Herpes 58 0.031
570
ALX003 Alexander Disease 58 0.031
571
P MCR010 Microcephaly 57 0.031
572
STR008 Strongyloidiasis 54 0.031
573
P BTH005 Bethlem Myopathy 1 52 0.031
574
HMP009 Haemophilus Influenzae 49 0.031
575
HYP458 Hyper Ige Syndrome 46 0.031
576
PLS016 Plasma Cell Leukemia 43 0.031
577
MTY001 Mutyh-Associated Polyposis 42 0.031
578
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 41 0.031
579
PRP005 Parapsoriasis 36 0.031
580
P CNN004 Connective Tissue Cancer 35 0.031
581
ORC001 Orchitis 34 0.031
582
P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 33 0.031
583
PTY004 Pityriasis Lichenoides 26 0.031
584
c HYP595 Hypertension, Essential 78 0.030
585
c CHR089 Chronic Kidney Failure 72 0.030
586
P ATR011 Atrial Fibrillation 68 0.030
587
P CHR071 Charcot-Marie-Tooth Disease 67 0.030
588
PRD007 Periodontal Disease 64 0.030
589
PLS011 Plasmacytoma 60 0.030
590
ORL015 Oral Squamous Cell Carcinoma 59 0.030
591
P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 57 0.030
592
THR004 Thrombocytosis 55 0.030
593
SPS003 Spastic Diplegia 55 0.030
594
PRN001 Purine Nucleoside Phosphorylase Deficiency 53 0.030
595
CYT005 Cytomegalovirus Retinitis 51 0.030
596
c GLY007 Glycogen Storage Disease Iv 51 0.030
597
c ACH021 Achromatopsia 3 44 0.030
598
c SZR022 Seizures, Benign Familial Neonatal, 1 39 0.030
599
PLY112 Polyarteritis Nodosa, Childhood-Onset 39 0.030
600
ALR002 Al-Raqad Syndrome 30 0.030
601
c FML347 Familial Adenomatous Polyposis 2 24 0.030
602
INS024 Insulin-Like Growth Factor I 83 0.030
603
GST019 Gastrointestinal Stromal Tumor 74 0.030
604
P MTC003 Metachromatic Leukodystrophy 72 0.030
605
PSR001 Psoriatic Arthritis 66 0.030
606
BLM001 Bloom Syndrome 62 0.030
607
SCH014 Schistosomiasis 62 0.030
608
HRP004 Herpes Zoster 61 0.030
609
PRM042 Primary Effusion Lymphoma 61 0.030
610
BRN012 Bronchiolitis Obliterans 60 0.030
611
P OVR049 Ovarian Disease 58 0.030
612
BRN106 Burns 57 0.030
613
CNT105 Central Core Disease of Muscle 57 0.030
614
c RHB024 Rhabdomyosarcoma 2 56 0.030
615
P CHN012 Chondrosarcoma 56 0.030
616
MCR004 Macroglobulinemia 54 0.030
617
SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 54 0.030
618
EPD001 Epidermodysplasia Verruciformis 52 0.030
619
c LSS005 Lissencephaly 1 46 0.030
620
EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 46 0.030
621
ASP005 Asphyxiating Thoracic Dystrophy 43 0.030
622
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 36 0.030
623
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35 0.030
624
c SPS092 Spastic Paraplegia 11 26 0.030
625
P OST002 Osteoporosis 75 0.029
626
PLM134 Pulmonary Fibrosis, Idiopathic 73 0.029
627
P TYS001 Tay-Sachs Disease 71 0.029
628
P NRF023 Neurofibromatosis, Type Ii 69 0.029
629
P PLM036 Pulmonary Fibrosis 68 0.029
630
DMN002 Dementia 68 0.029
631
P NRM001 Neuromyelitis Optica 67 0.029
632
CHD001 Chediak-Higashi Syndrome 67 0.029
633
CHR063 Chronic Mucocutaneous Candidiasis 66 0.029
634
P EXN002 Exanthem 62 0.029
635
c VRL010 Viral Hepatitis 59 0.029
636
P CFF008 Coffin-Siris Syndrome 1 59 0.029
637
WST005 West Nile Virus 58 0.029
638
CHL014 Cholera 56 0.029
639
P DRM007 Dermatitis Herpetiformis 56 0.029
640
CLN019 Colonic Disease 55 0.029
641
SPN041 Spinal Cord Disease 54 0.029
642
SLD003 Sialadenitis 49 0.029
643
TMR016 Tumor Suppressor Gene on Chromosome 11 42 0.029
644
FND002 Fundus Dystrophy 34 0.029
645
RFR001 Refractory Plasma Cell Neoplasm 19 0.029
646
ADR007 Adrenoleukodystrophy 72 0.028
647
BRC012 Brucellosis 71 0.028
648
P AGM001 Agammaglobulinemia 70 0.028
649
P MSC005 Muscular Dystrophy 66 0.028
650
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62 0.028
651
P BRD002 Bardet-Biedl Syndrome 61 0.028
652
VGT001 Vogt-Koyanagi-Harada Disease 60 0.028
653
P DRR001 Diarrhea 60 0.028
654
JNT002 Joint Disorders 60 0.028
655
URT039 Urticaria 59 0.028
656
PPL022 Papilloma 58 0.028
657
P BCK002 Beckwith-Wiedemann Syndrome 58 0.028
658
P SJG008 Sjogren Syndrome 58 0.028
659
c NMN015 Niemann-Pick Disease, Type C1 57 0.028
660
P LRY019 Laryngitis 57 0.028
661
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 57 0.028
662
AND002 Androgen Insensitivity Syndrome 57 0.028
663
MTC007 Mitochondrial Complex I Deficiency 56 0.028
664
c BRD010 Bardet-Biedl Syndrome 1 56 0.028
665
SPL004 Splenic Marginal Zone Lymphoma 52 0.028
666
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.028
667
c LFR007 Li-Fraumeni Syndrome 2 46 0.028
668
GLC106 Glucocorticoid Resistance, Generalized 41 0.028
669
GND003 Gonadal Disease 32 0.028
670
CHR603 Chronic Enteropathy Associated with Slco2a1 Gene 21 0.028
671
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.028
672
NRL016 Neural Tube Defects 79 0.028
673
WGN006 Wegener Granulomatosis 71 0.028
674
SMT004 Smith-Lemli-Opitz Syndrome 70 0.028
675
P AGM019 Agammaglobulinemia, X-Linked 69 0.028
676
BLL006 Bullous Pemphigoid 64 0.028
677
c PNC108 Pancreatitis, Hereditary 60 0.028
678
P CTR002 Cataract 60 0.028
679
ERY003 Erythema Multiforme 60 0.028
680
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 59 0.028
681
c MCL062 Mucolipidosis Ii Alpha/beta 58 0.028
682
c BRD014 Bardet-Biedl Syndrome 2 58 0.028
683
c GCH015 Gaucher Disease, Type I 57 0.028
684
c BRD011 Bardet-Biedl Syndrome 10 56 0.028
685
P HYP076 Hyperthyroidism 56 0.028
686
CRN239 Carnitine Deficiency, Systemic Primary 52 0.028
687
HPT082 Hepatic Adenomas, Familial 52 0.028
688
MYL003 Myeloid Sarcoma 51 0.028
689
MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 51 0.028
690
SCB001 Scabies 50 0.028
691
P DMY001 Demyelinating Polyneuropathy 46 0.028
692
MTC088 Mitochondrial Dna Depletion Syndrome 13 26 0.028
693
c JBR025 Joubert Syndrome 17 22 0.028
694
P ATS364 Autism 70 0.027
695
P CHR012 Chronic Granulomatous Disease 69 0.027
696
CRB039 Cerebrovascular Disease 68 0.027
697
SYN007 Synovitis 61 0.027
698
KRT006 Keratoconjunctivitis 56 0.027
699
PYD001 Pyoderma Gangrenosum 55 0.027
700
CRY005 Cryptococcosis 54 0.027
701
GST027 Gastric Lymphoma 53 0.027
702
LYS003 Lysinuric Protein Intolerance 53 0.027
703
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 53 0.027
704
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 53 0.027
705
CLL003 Cellulitis 53 0.027
706
STM006 Stomach Disease 52 0.027
707
PLS025 Plasmablastic Lymphoma 51 0.027
708
PYD002 Pyoderma 51 0.027
709
c ATM024 Autoimmune Pancreatitis 49 0.027
710
c ACT076 Acute Myocarditis 48 0.027
711
P MWT001 Mowat-Wilson Syndrome 47 0.027
712
P GLT035 Glutaric Acidemia I 40 0.027
713
P TRC005 Tracheal Stenosis 39 0.027
714
c DRM040 Dermatitis Herpetiformis, Familial 32 0.027
715
PLY001 Polycythemia Vera 75 0.026
716
P AMY004 Amyloidosis 69 0.026
717
c PRM196 Premature Ovarian Failure 1 68 0.026
718
MXD005 Mixed Connective Tissue Disease 66 0.026
719
ACR006 Aceruloplasminemia 65 0.026
720
c PRC016 Pre-Eclampsia 65 0.026
721
c MCP050 Mucopolysaccharidosis, Type Ii 64 0.026
722
FCT002 Factor Xi Deficiency 64 0.026
723
MTH009 Mouth Disease 64 0.026
724
LYM021 Lymphadenitis 62 0.026
725
ORL011 Oral Cancer 60 0.026
726
P FCL005 Focal Segmental Glomerulosclerosis 60 0.026
727
c OST080 Osteogenesis Imperfecta, Type Ii 59 0.026
728
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 59 0.026
729
CRT002 Cartilage-Hair Hypoplasia 58 0.026
730
P ECL001 Eclampsia 57 0.026
731
ECT006 Ectodermal Dysplasia 57 0.026
732
BLR001 Biliary Atresia 56 0.026
733
P SZR006 Seizure Disorder 55 0.026
734
P TRC086 Trichohepatoenteric Syndrome 1 54 0.026
735
ALL009 Allergic Conjunctivitis 53 0.026
736
MLN007 Male Infertility 53 0.026
737
c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 51 0.026
738
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.026
739
SCH016 Schimke Immunoosseous Dysplasia 47 0.026
740
OVR012 Ovarian Serous Cystadenocarcinoma 47 0.026
741
SPL018 Splenomegaly 45 0.026
742
BCL002 B Cell Deficiency 44 0.026
743
JBR006 Joubert Syndrome with Oculorenal Anomalies 42 0.026
744
IMM082 Immunodeficiency 18 41 0.026
745
c DFN097 Deafness, Autosomal Recessive 1a 38 0.026
746
RCT017 Rectal Disease 38 0.026
747
c DFN133 Deafness, Autosomal Recessive 9 35 0.026
748
P MYX008 Myxoid Chondrosarcoma 31 0.026
749
CNT009 Central Core Myopathy 31 0.026
750
c PRV019 Periventricular Nodular Heterotopia 1 30 0.026
751
c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 28 0.026
752
c ART028 Aortic Aneurysm, Familial Thoracic 4 27 0.026
753
c PRG021 Paragangliomas 4 25 0.026
754
c JBR012 Joubert Syndrome 5 25 0.026
755
c FTL067 Fetal Hemoglobin Quantitative Trait Locus 6 21 0.026
756
STR067 Stroke, Ischemic 84 0.025
757
KPS004 Kaposi Sarcoma 73 0.025
758
EWN003 Ewing Sarcoma 72 0.025
759
c JVN010 Juvenile Rheumatoid Arthritis 71 0.025
760
c MLT156 Multiple Endocrine Neoplasia, Type I 70 0.025
761
FRN006 Frontotemporal Dementia 70 0.025
762
ART016 Aortic Aneurysm 70 0.025
763
P ORT004 Orthostatic Intolerance 68 0.025
764
GST045 Gastroenteritis 65 0.025
765
ADR054 Adrenocortical Carcinoma, Hereditary 63 0.025
766
P MCK013 Meckel Syndrome, Type 1 62 0.025
767
GTL001 Gitelman Syndrome 62 0.025
768
P SPN052 Spondyloarthropathy 61 0.025
769
c SVR001 Severe Acute Respiratory Syndrome 58 0.025
770
c GLY003 Glycogen Storage Disease Iii 56 0.025
771
c GST103 Gastric Cancer, Hereditary Diffuse 54 0.025
772
P SCL009 Sclerosing Cholangitis 53 0.025
773
P CTN003 Cutaneous Lupus Erythematosus 53 0.025
774
ILT001 Ileitis 52 0.025
775
GRN017 Granulocytopenia 49 0.025
776
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 47 0.025
777
LCH009 Lichen Sclerosus 45 0.025
778
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 41 0.025
779
P CRB059 Cerebellar Degeneration 40 0.025
780
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.025
781
RFR013 Refractory Celiac Disease 34 0.025
782
FLL019 Follicular Mucinosis 34 0.025
783
c TRC078 Trichohepatoenteric Syndrome 2 34 0.025
784
PRN032 Paraneoplastic Cerebellar Degeneration 33 0.025
785
INC022 Inclusion-Cell Disease 33 0.025
786
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.025
787
c CNG112 Congenital Muscular Dystrophy Type 1a 31 0.025
788
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 31 0.025
789
P STR035 Streptococcal Group a Invasive Disease 28 0.025
790
VSL002 Visual Epilepsy 27 0.025
791
HRP008 Herpes Simiae 16 0.025
792
END057 Endometrial Cancer 76 0.025
793
P DYS007 Dyskeratosis Congenita 68 0.025
794
P HYD006 Hydrocephalus 68 0.025
795
SYS004 Systemic Mastocytosis 65 0.025
796
P LBR001 Leber Congenital Amaurosis 65 0.025
797
IMM174 Immunodeficiency with Hyper-Igm, Type 1 64 0.025
798
LNG108 Langerhans Cell Histiocytosis 63 0.025
799
PRP001 Propionic Acidemia 63 0.025
800
PLM033 Pulmonary Embolism 62 0.025
801
c ACT027 Acute Pancreatitis 61 0.025
802
c LNG044 Long Qt Syndrome 1 61 0.025
803
ALP103 Alpha-1-Antitrypsin Deficiency 60 0.025
804
JVN014 Juvenile Polyposis Syndrome 60 0.025
805
P PLY018 Polycythemia 60 0.025
806
JPN002 Japanese Encephalitis 59 0.025
807
END030 End Stage Renal Failure 59 0.025
808
c GLY060 Glycogen Storage Disease Ia 57 0.025
809
UTR024 Uterine Carcinosarcoma 57 0.025
810
c BRD013 Bardet-Biedl Syndrome 12 55 0.025
811
c BRD012 Bardet-Biedl Syndrome 11 55 0.025
812
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.025
813
ANG054 Angina Pectoris 53 0.025
814
c ORF037 Orofaciodigital Syndrome I 51 0.025
815
LYM012 Lymphoplasmacytic Lymphoma 50 0.025
816
c LNG047 Long Qt Syndrome 2 49 0.025
817
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 48 0.025
818
MLK006 Milk Allergy 46 0.025
819
P ORF001 Orofaciodigital Syndrome 46 0.025
820
c PTT056 Pituitary Adenoma 1, Multiple Types 46 0.025
821
EPD070 Epidermoid Cysts 46 0.025
822
P FNC044 Fanconi Anemia, Complementation Group C 45 0.025
823
CRS001 Crescentic Glomerulonephritis 44 0.025
824
ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 44 0.025
825
c USH040 Usher Syndrome, Type Id 41 0.025
826
c ALB009 Albinism, Oculocutaneous, Type Ia 41 0.025
827
ADN002 Adenoiditis 40 0.025
828
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 40 0.025
829
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.025
830
FXF002 Fox-Fordyce Disease 40 0.025
831
c DFN201 Deafness, Autosomal Recessive 3 36 0.025
832
JBR005 Joubert Syndrome with Ocular Anomalies 36 0.025
833
P XLN110 X-Linked Charcot-Marie-Tooth Disease 34 0.025
834
LYM048 Lymphoma, Large-Cell, Immunoblastic 31 0.025
835
c JBR041 Joubert Syndrome 3 24 0.025
836
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.024
837
ANX010 Anxiety 72 0.024
838
BRN024 Bronchitis 67 0.024
839
c MCP049 Mucopolysaccharidosis, Type Vii 64 0.024
840
P SNS014 Sinusitis 62 0.024
841
NRV006 Nervous System Cancer 61 0.024
842
P FBR017 Fibrosarcoma 61 0.024
843
GLS001 Gliosarcoma 61 0.024
844
PHR003 Pharyngitis 59 0.024
845
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.024
846
P USH001 Usher Syndrome 59 0.024
847
CTR172 Citrullinemia, Classic 58 0.024
848
LMY002 Leiomyoma 58 0.024
849
BRN038 Bronchial Disease 58 0.024
850
c PRX045 Peroxisome Biogenesis Disorder 1b 57 0.024
851
BRL012 Bare Lymphocyte Syndrome, Type Ii 57 0.024
852
EPD016 Epidermolysis Bullosa 57 0.024
853
P CNT005 Central Nervous System Lymphoma 57 0.024
854
P DNG005 Dengue Virus 56 0.024
855
P DNT020 Dent Disease 1 55 0.024
856
CLR030 Clear Cell Renal Cell Carcinoma 55 0.024
857
OPT009 Optic Neuritis 53 0.024
858
c ANT034 Anterior Uveitis 53 0.024
859
P PTT014 Pitt-Hopkins Syndrome 52 0.024
860
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 52 0.024
861
c ACT134 Acute Liver Failure 52 0.024
862
CCC002 Coccidiosis 52 0.024
863
GYR004 Gyrate Atrophy of Choroid and Retina 51 0.024
864
INT067 Interstitial Nephritis 51 0.024
865
PLM035 Pulmonary Eosinophilia 48 0.024
866
OVR094 Ovarian Epithelial Cancer 46 0.024
867
CLN045 Colonic Benign Neoplasm 44 0.024
868
CHN056 Chondrosarcoma, Extraskeletal Myxoid 44 0.024
869
c PRX059 Peroxisome Biogenesis Disorder 1a 41 0.024
870
c MTR020 Maturity-Onset Diabetes of the Young, Type 3 41 0.024
871
DND018 Dendritic Cell Tumor 41 0.024
872
PRM155 Primary Cutaneous Anaplastic Large Cell Lymphoma 39 0.024
873
P ATM020 Autoimmune Enteropathy 39 0.024
874
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 37 0.024
875
PPL059 Popliteal Pterygium Syndrome, Lethal Type 37 0.024
876
c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36 0.024
877
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 34 0.024
878
c INF145 Infantile Liver Failure Syndrome 1 33 0.024
879
FLL042 Folliculotropic Mycosis Fungoides 31 0.024
880
c HYP603 Hyperoxaluria, Primary, Type Iii 30 0.024
881
IMM070 Immunodeficiency 13 27 0.024
882
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 27 0.024
883
c CLR041 Colorectal Cancer, Hereditary Nonpolyposis, Type 2 23 0.024
884
FLN007 Flna-Related Periventricular Nodular Heterotopia 12 0.024
885
SCK003 Sickle Cell Anemia 73 0.023
886
P FML018 Familial Mediterranean Fever 73 0.023
887
OST159 Osteogenic Sarcoma 70 0.023
888
GLL018 Gallbladder Cancer 67 0.023
889
OTT002 Otitis Media 67 0.023
890
P TMP003 Temporal Arteritis 67 0.023
891
P SLP006 Sleep Apnea 65 0.023
892
ADL030 Adult-Onset Still's Disease 65 0.023
893
VLC001 Velocardiofacial Syndrome 64 0.023
894
OST003 Osteonecrosis 63 0.023
895
HMR004 Hemorrhagic Fever with Renal Syndrome 63 0.023
896
CRD119 Cardiac Arrest 63 0.023
897
IRR002 Irritable Bowel Syndrome 63 0.023
898
ALC006 Alcoholic Hepatitis 62 0.023
899
DBT083 Diabetes Mellitus, Permanent Neonatal 62 0.023
900
ELL001 Ellis-Van Creveld Syndrome 61 0.023
901
c THR092 Thrombophilia Due to Thrombin Defect 61 0.023
902
PRP083 Porphyria, Acute Intermittent 60 0.023
903
P ANT006 Antiphospholipid Syndrome 59 0.023
904
BNC003 Bone Cancer 59 0.023
905
SML019 Smallpox 57 0.023
906
P NPH005 Nephronophthisis 57 0.023
907
c HPT007 Hepatitis E 57 0.023
908
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57 0.023
909
ALS001 Alstrom Syndrome 55 0.023
910
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.023
911
P ESP035 Esophagitis, Eosinophilic, 1 55 0.023
912
TRY001 Trypanosomiasis 55 0.023
913
c MLG079 Malignant Pleural Mesothelioma 54 0.023
914
SCK005 Sickle Cell Disease 54 0.023
915
c INF071 Inflammatory Bowel Disease 1 54 0.023
916
GTR002 Goiter 53 0.023
917
ESN015 Eosinophilic Fasciitis 52 0.023
918
P ULL002 Ullrich Congenital Muscular Dystrophy 1 52 0.023
919
HST009 Histiocytoma 51 0.023
920
c PST005 Posterior Uveitis 50 0.023
921
c LKM060 Leukemia, Acute Lymphoblastic 3 49 0.023
922
DRM011 Dermatophytosis 48 0.023
923
DSC009 Discoid Lupus Erythematosus 48 0.023
924
PLY020 Polyradiculoneuropathy 48 0.023
925
c TRC092 Trichorhinophalangeal Syndrome, Type I 48 0.023
926
ACT200 Acute Monoblastic Leukemia 47 0.023
927
CRN295 Carnitine Palmitoyltransferase I Deficiency 46 0.023
928
P RSM001 Rasmussen Encephalitis 46 0.023
929
FBR003 Fibrous Histiocytoma 46 0.023
930
CRY014 Cryptococcal Meningitis 45 0.023
931
c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 45 0.023
932
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 43 0.023
933
IGG007 Igg4-Related Disease 43 0.023
934
CRV045 Cervical Intraepithelial Neoplasia 43 0.023
935
c NPH049 Nephrotic Syndrome, Type 2 40 0.023
936
c MLG147 Malignant Hyperthermia 1 38 0.023
937
THY043 Thymic Hyperplasia 38 0.023
938
PSD029 Pseudocholinesterase Deficiency 38 0.023
939
c PSD092 Pseudohypoaldosteronism, Type Iie 37 0.023
940
c STC015 Stickler Syndrome, Type I 36 0.023
941
P RFR008 Refractory Anemia with Excess Blasts 34 0.023
942
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32 0.023
943
c CTR119 Cataract 32, Multiple Types 32 0.023
944
MST021 Meester-Loeys Syndrome 29 0.023
945
P SCL057 Scoliosis, Isolated 1 28 0.023
946
TBL022 Tibial Muscular Dystrophy, Tardive 23 0.023
947
MLD001 Melioidosis 73 0.022
948
P ESS003 Essential Thrombocythemia 71 0.022
949
PNC041 Pancreatic Ductal Adenocarcinoma 67 0.022
950
BRT054 Brittle Bone Disorder 67 0.022
951
P MCR115 Microvascular Complications of Diabetes 5 66 0.022
952
c BSL007 Basal Cell Carcinoma 66 0.022
953
P WLD002 Waldenstrom Macroglobulinemia 65 0.022
954
c MLT160 Multiple Endocrine Neoplasia, Type Iia 65 0.022
955
MGK001 Megakaryocytic Leukemia 63 0.022
956
c ATS347 Autosomal Dominant Polycystic Kidney Disease 61 0.022
957
P BPL003 Bipolar Disorder 61 0.022
958
c NMN013 Niemann-Pick Disease, Type a 59 0.022
959
P OLG002 Oligodendroglioma 59 0.022
960
FLR002 Filariasis 58 0.022
961
ESP023 Esophageal Disease 58 0.022
962
HRD029 Hereditary Leiomyomatosis and Renal Cell Cancer 57 0.022
963
VND007 Van Der Woude Syndrome 1 57 0.022
964
ECH003 Echinococcosis 57 0.022
965
RNL065 Renal Cell Carcinoma, Papillary, 1 56 0.022
966
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.022
967
PST046 Post-Transplant Lymphoproliferative Disease 56 0.022
968
P ESN008 Eosinophilic Pneumonia 55 0.022
969
c MCR113 Microvascular Complications of Diabetes 3 55 0.022
970
c TYR012 Tyrosinemia, Type I 55 0.022
971
c GLY004 Glycogen Storage Disease V 55 0.022
972
RHM028 Rheumatic Heart Disease 54 0.022
973
CHR563 Chronic Eosinophilic Leukemia 51 0.022
974
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 50 0.022
975
c CLR017 Clear Cell Sarcoma 50 0.022
976
FSC004 Fasciitis 48 0.022
977
EXT033 Extrapulmonary Tuberculosis 48 0.022
978
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 47 0.022
979
RTN001 Retinal Vasculitis 47 0.022
980
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 0.022
981
KRT010 Kartagener Syndrome 46 0.022
982
c CHR418 Chronic Leukemia 46 0.022
983
c OPT053 Optic Atrophy 1 45 0.022
984
CST005 Castleman Disease 44 0.022
985
P BRY005 Beryllium Disease 43 0.022
986
c MGL018 Megaloblastic Anemia 1 43 0.022
987
c MCR130 Microvascular Complications of Diabetes 6 42 0.022
988
EGG001 Egg Allergy 41 0.022
989
MLR002 Miliary Tuberculosis 40 0.022
990
c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 39 0.022
991
BNS001 Bone Osteosarcoma 38 0.022
992
LPT014 Leptin Deficiency or Dysfunction 37 0.022
993
c USH041 Usher Syndrome, Type if 36 0.022
994
P MNT135 Mental Retardation, X-Linked, Syndromic 13 36 0.022
995
PRN039 Paraneoplastic Syndromes 35 0.022
996
c MCR120 Microvascular Complications of Diabetes 7 34 0.022
997
ALP072 Alpha-Fetoprotein Deficiency 32 0.022
998
c MCR133 Microvascular Complications of Diabetes 4 32 0.022
999
c PYR007 Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia 25 0.022
1000
c MNS008 Monosomy 21 23 0.022
1001
IMM062 Immunodeficiency 11 21 0.022
1002
c ALT007 Alternating Hemiplegia of Childhood 2 19 0.022
1003
FBX003 Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome 13 0.022
1004
P HRD008 Hereditary Hemorrhagic Telangiectasia 72 0.021
1005
P RSP003 Respiratory Failure 71 0.021
1006
P KRB001 Krabbe Disease 70 0.021
1007
P OST001 Osteopetrosis 70 0.021
1008
P PLZ001 Pelizaeus-Merzbacher Disease 68 0.021
1009
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.021
1010
BSL036 Basal Cell Nevus Syndrome 67 0.021
1011
HYP066 Hyperglycemia 64 0.021
1012
WLL001 Williams-Beuren Syndrome 63 0.021
1013
P SRC025 Sarcoidosis 1 63 0.021
1014
INT066 Interstitial Lung Disease 63 0.021
1015
P CMR001 Camurati-Engelmann Disease 62 0.021
1016
CHR072 Chordoma 61 0.021
1017
ALP100 Alpha-Thalassemia/mental Retardation Syndrome, X-Linked 60 0.021
1018
c CHL119 Cholangitis, Primary Sclerosing 60 0.021
1019
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 59 0.021
1020
PLS007 Plasmodium Falciparum Malaria 59 0.021
1021
P HYP035 Hypophosphatasia 58 0.021
1022
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 57 0.021
1023
P MLT007 Multiple Epiphyseal Dysplasia 57 0.021
1024
P MYP006 Myopia 56 0.021
1025
CRT049 Critical Limb Ischemia 56 0.021
1026
BLD044 Bladder Disease 55 0.021
1027
HDC001 Headache 55 0.021
1028
P MMB011 Membranous Nephropathy 55 0.021
1029
c ICH047 Ichthyosis, Congenital, Autosomal Recessive 1 55 0.021
1030
MGR028 Migraine with or Without Aura 1 55 0.021
1031
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 55 0.021
1032
c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 54 0.021
1033
CLF001 Cleft Lip 54 0.021
1034
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.021
1035
KRT009 Keratosis 53 0.021
1036
c CNG415 Congenital Disorder of Glycosylation, Type Ia 53 0.021
1037
P RST002 Restrictive Cardiomyopathy 51 0.021
1038
HMN032 Human Herpesvirus 8 50 0.021
1039
NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 50 0.021
1040
c OST121 Osteogenesis Imperfecta, Type Iv 49 0.021
1041
RNL078 Renal Dysplasia 49 0.021
1042
RCH001 Richter's Syndrome 49 0.021
1043
c HYP292 Hypophosphatasia, Infantile 48 0.021
1044
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48 0.021
1045
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.021
1046
SPN119 Spondylarthropathy 46 0.021
1047
PMP004 Pemphigus Foliaceus 46 0.021
1048
SKN022 Skin Squamous Cell Carcinoma 46 0.021
1049
BLS007 Blastic Plasmacytoid Dendritic Cell 45 0.021
1050
NCL006 Nicolaides-Baraitser Syndrome 45 0.021
1051
c CHR576 Chronic Beryllium Disease 42 0.021
1052
SPN060 Spondylocarpotarsal Synostosis Syndrome 41 0.021
1053
DYS164 Dyskeratosis Congenita, X-Linked 40 0.021
1054
P 8P1002 8p11 Myeloproliferative Syndrome 40 0.021
1055
c CNG206 Congenital Disorder of Glycosylation, Type Ie 40 0.021
1056
GRN007 Granuloma Annulare 40 0.021
1057
IMM001 Immune-Complex Glomerulonephritis 39 0.021
1058
ATN011 Autoinflammation with Infantile Enterocolitis 39 0.021
1059
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 38 0.021
1060
NDL020 Nodal Marginal Zone B-Cell Lymphoma 38 0.021
1061
c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38 0.021
1062
c BRT038 Baraitser-Winter Syndrome 1 37 0.021
1063
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 36 0.021
1064
P DCR003 Dacryoadenitis 34 0.021
1065
CHR463 Chronic Actinic Dermatitis 34 0.021
1066
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34 0.021
1067
ANG066 Angel-Shaped Phalangoepiphyseal Dysplasia 33 0.021
1068
CMB022 Combined Cellular and Humoral Immune Defects with Granulomas 31 0.021
1069
c ATM097 Autoimmune Lymphoproliferative Syndrome, Type Iia 30 0.021
1070
c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 30 0.021
1071
ACT095 Acute Biphenotypic Leukemia 29 0.021
1072
c RTN066 Retinitis Pigmentosa 4 28 0.021
1073
c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 28 0.021
1074
MTH077 Methylmalonic Aciduria, Cbla Type 26 0.021
1075
HRD073 Hereditary Myopathy with Early Respiratory Failure 25 0.021
1076
c PLM167 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 25 0.021
1077
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 24 0.021
1078
IND005 Indolent B Cell Lymphoma 23 0.021
1079
MLR020 Malaria, Mild 23 0.021
1080
c JBR015 Joubert Syndrome 6 21 0.021
1081
c JBR014 Joubert Syndrome 9 19 0.021
1082
PRP027 Peripheral Vascular Disease 71 0.020
1083
WRN001 Werner Syndrome 70 0.020
1084
PTZ001 Peutz-Jeghers Syndrome 70 0.020
1085
CHL065 Cholangiocarcinoma 70 0.020
1086
LYM007 Lymphangioleiomyomatosis 68 0.020
1087
P MCL013 Mucolipidosis Iv 67 0.020
1088
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.020
1089
c ART101 Aortic Valve Disease 2 65 0.020
1090
ABT001 Abetalipoproteinemia 64 0.020
1091
APH001 Aphthous Stomatitis 64 0.020
1092
P NRC002 Narcolepsy 64 0.020
1093
HLT001 Holt-Oram Syndrome 61 0.020
1094
P WLF004 Wolfram Syndrome 61 0.020
1095
STF001 Stiff-Person Syndrome 61 0.020
1096
P RBL001 Rubella 61 0.020
1097
c ALP101 Alpha-Thalassemia 60 0.020
1098
CCC001 Coccidioidomycosis 60 0.020
1099
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 59 0.020
1100
P FRD012 Friedreich Ataxia 1 58 0.020
1101
P CRB048 Cerebral Cavernous Malformations 57 0.020
1102
P ALL008 Allergic Bronchopulmonary Aspergillosis 56 0.020