Search results for t

6971 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 6.124
2
TCL016 T-Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 25 5.115
3
SVR098 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive 39 5.089
4
c ADL017 Adult T-Cell Leukemia 62 5.002
5
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 61 4.723
6
c ACT020 Acute T Cell Leukemia 52 4.042
7
SVR066 Severe Combined Immunodeficiency, X-Linked 63 4.008
8
EXT048 Extranodal Nasal Nk/t Cell Lymphoma 31 3.843
9
IMM015 Immune Defect Due to Absence of Thymus 42 3.780
10
P CTN015 Cutaneous T Cell Lymphoma 55 3.772
11
PRP036 Peripheral T-Cell Lymphoma 56 3.736
12
c TCL005 T-Cell Prolymphocytic Leukemia 52 3.717
13
c LKM062 Leukemia, Acute Lymphoblastic 69 3.712
14
BCL010 B-Cell Expansion with Nfkb and T-Cell Anergy 51 3.428
15
IMM065 Immunodeficiency 10 27 3.421
16
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 38 3.402
17
TCL021 T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or Without Cardiac Malformations 19 3.397
18
IMM066 Immunodeficiency 9 23 3.387
19
TCL022 T-Cell Receptor-Alpha/beta Deficiency 19 3.378
20
P TCL004 T-Cell Leukemia 50 3.254
21
ECT106 Ectodermal Dysplasia, Anhidrotic, with T-Cell Immunodeficiency, Autosomal Dominant 22 3.198
22
ANG046 Angioimmunoblastic T-Cell Lymphoma 47 3.161
23
ENT008 Enteropathy-Associated T-Cell Lymphoma 38 3.054
24
IMM102 Immunodeficiency 14 45 2.963
25
c FNC052 Fanconi Anemia, Complementation Group T 20 2.922
26
ACT196 Acute Myeloid Leukemia with Inv3(p21;q26.2) or T(3;3)(p21;q26.2) 9 2.920
27
c LKM005 Leukemia, T-Cell, Chronic 26 2.743
28
SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 39 2.727
29
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 59 2.712
30
IDP001 Idiopathic Cd4-Positive T-Lymphocytopenia 22 2.695
31
IMM141 Immunodeficiency 49 20 2.680
32
EMN001 Emanuel Syndrome 36 2.677
33
SBC024 Subcutaneous Panniculitis-Like T-Cell Lymphoma 39 2.531
34
ACT119 Acute Promyelocytic Leukemia 59 2.489
35
c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 27 2.458
36
IMM143 Immunodeficiency 48 24 2.425
37
IMM081 Immunodeficiency 19 40 2.411
38
JK3001 Jak3-Deficient Severe Combined Immunodeficiency 34 2.393
39
TCL003 T Cell Deficiency 42 2.200
40
TCL002 T-Cell Large Granular Lymphocyte Leukemia 47 2.175
41
TCL012 T-Cell/histiocyte Rich Large B Cell Lymphoma 38 2.136
42
SVR010 Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation 38 2.133
43
TCL019 T-Cell Childhood Lymphoblastic Lymphoma 15 2.096
44
PRM250 Primary Cutaneous Peripheral T-Cell Lymphoma Not Otherwise Specified 13 2.085
45
c PRC018 Precursor T-Lymphoblastic Lymphoma/leukemia 23 2.081
46
PLT026 Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 28 2.077
47
SPR123 Supernumerary Der(22)t(8 14 2.077
48
TCL011 T-Cell Immunodeficiency with Epidermodysplasia Verruciformis 7 2.075
49
TCL006 T Cell Immunodeficiency Primary 9 2.073
50
SYS063 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoproliferative Disease of Childhood 6 2.071
51
c HMN021 Human T-Cell Leukemia Virus Type 1 52 1.966
52
MYL057 Myelopathy, Htlv-1-Associated 42 1.851
53
CMB081 Combined Immunodeficiency, X-Linked 64 1.827
54
HPT070 Hepatosplenic T-Cell Lymphoma 43 1.825
55
LRG008 Large Granular Lymphocyte Leukemia 47 1.824
56
c HMN022 Human T-Cell Leukemia Virus Type 2 42 1.754
57
ADN001 Adenosine Deaminase Deficiency 51 1.734
58
IMM184 Immunodeficiency 17 42 1.725
59
SVR032 Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation 26 1.720
60
TCL018 T-Cell Childhood Acute Lymphocytic Leukemia 17 1.720
61
c TCL008 T-Cell Lymphoma 1a 12 1.703
62
PRM131 Primary Cutaneous Aggressive Epidermotropic Cd8+ T-Cell Lymphoma 11 1.703
63
PDT026 Pediatric T-Cell Leukemia 7 1.703
64
HYD045 Hydroa Vacciniforme-Like Lymphoma 15 1.701
65
c HMN023 Human T-Cell Leukemia Virus Type 3 7 1.701
66
P TLN014 Tl Antigen 17 1.699
67
IMM171 Immunodeficiency with Defective T-Cell Response to Interleukin 1 13 1.699
68
c ACT195 Acute Myeloid Leukemia with T(9;11)(p22;q23) 24 1.696
69
c ACT198 Acute Myeloid Leukemia with T(6;9)(p23;q34) 14 1.696
70
c ACT194 Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation 25 1.694
71
P ACT190 Acute Myeloid Leukemia with T(8;16)(p11;p13) Translocation 17 1.694
72
TBS005 T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 19 1.691
73
INF127 Infective Dermatitis Associated with Htlv-1 16 1.691
74
MGK005 Megakaryoblastic Acute Myeloid Leukemia with T(1;22)(p13;q13) 8 1.691
75
CHL029 Childhood Precursor T-Lymphoblastic Lymphoma/leukemia 6 1.691
76
P LNG028 Long Qt Syndrome 65 1.633
77
P ATX030 Ataxia-Telangiectasia 79 1.594
78
SVR004 Severe Combined Immunodeficiency 69 1.344
79
c MLG054 Malignant Histiocytosis 50 1.303
80
GBT001 Gaba-Transaminase Deficiency 33 1.287
81
LRB003 Lrba Deficiency 21 1.275
82
NTH001 Netherton Syndrome 60 1.273
83
CD4008 Cd4/cd8 T-Cell Ratio 19 1.236
84
HTL001 Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis 31 1.235
85
PRM132 Primary Cutaneous Cd4+ Small/medium-Sized Pleomorphic T-Cell Lymphoma 16 1.224
86
TBR006 Tuberculoid Leprosy 45 1.223
87
BND002 B- and T-Cell Mixed Leukemia 18 1.215
88
RFR007 Refractory Anemia with Excess Blasts in Transformation 24 1.211
89
c TSB001 T-Substance Anomaly 12 1.208
90
c PRM130 Primary Cutaneous Gamma/delta-Positive T-Cell Lymphoma 7 1.208
91
SPL064 Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T Helper Cells 9 1.206
92
SKL029 Skeletal Dysplasia-T Cell Immunodeficiency-Developmental Delay Syndrome 6 1.203
93
TCL020 T-Cell Subgroups, Non-Hla-Linked 3 1.203
94
PRC009 Precursor T-Lymphoblastic Lymphoma/leukemia Refractory 5 1.199
95
TBX002 T-Box 24 3 1.199
96
TCM001 T-Complex Locus Tcp10b 3 1.199
97
CMB055 Combined Immunodeficiency Due to Crac Channel Dysfunction 15 1.195
98
ZP7001 Zap70-Related Severe Combined Immunodeficiency 12 1.195
99
LYM044 Lymphocytic Infiltrate of Jessner 11 1.195
100
TNG001 Tungiasis 39 1.190
101
INT226 Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome 18 1.190
102
P LYM118 Lymphoma 70 0.496
103
P LKM002 Leukemia 72 0.443
104
c CRD080 Cardiomyopathy, Dilated, 1g 17 0.293
105
P LYN001 Lynch Syndrome 71 0.292
106
c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36 0.289
107
P BRS047 Breast Cancer 100 0.272
108
P HRD200 Hereditary Breast Ovarian Cancer Syndrome 58 0.249
109
P HYP061 Hypertrophic Cardiomyopathy 64 0.226
110
P HYP607 Hypercholesterolemia, Familial 79 0.222
111
c CLR087 Colorectal Cancer 12 21 0.213
112
c BRS111 Breast-Ovarian Cancer, Familial 2 19 0.211
113
c TBR026 Tuberous Sclerosis 2 65 0.208
114
P LYM026 Lymphoblastic Leukemia 64 0.202
115
P FNC027 Fanconi Anemia, Complementation Group a 78 0.200
116
c BRS110 Breast-Ovarian Cancer, Familial 1 37 0.197
117
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54 0.189
118
c NRF024 Neurofibromatosis, Type I 66 0.184
119
c FML346 Familial Adenomatous Polyposis 1 62 0.183
120
NRP060 Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive 50 0.179
121
c RHB011 Rhabdoid Tumor Predisposition Syndrome 2 26 0.178
122
GST019 Gastrointestinal Stromal Tumor 73 0.178
123
P BRG001 Brugada Syndrome 60 0.178
124
c CLR077 Colorectal Cancer 10 26 0.176
125
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52 0.171
126
TYP041 Type I 56 0.169
127
P HPT021 Hepatitis 76 0.167
128
LYM019 Lymphosarcoma 55 0.164
129
P CNG411 Congenital Disorder of Glycosylation, Type in 62 0.162
130
P ART022 Arthritis 76 0.162
131
PDT001 Pediatric Lymphoma 45 0.159
132
c ADL001 Adult Lymphoma 39 0.159
133
BSL036 Basal Cell Nevus Syndrome 65 0.157
134
LYM024 Lymphatic System Disease 54 0.156
135
c LKM061 Leukemia, Acute Myeloid 80 0.154
136
c TBR025 Tuberous Sclerosis 1 62 0.154
137
BLL001 Baller-Gerold Syndrome 50 0.150
138
P JBR020 Joubert Syndrome 1 67 0.150
139
P MYL006 Myeloid Leukemia 68 0.146
140
P PLR004 Pleuropulmonary Blastoma 59 0.143
141
MSC157 Muscular Dystrophy, Duchenne Type 68 0.143
142
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43 0.143
143
EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 12 0.143
144
P PRS040 Prostate Cancer 90 0.143
145
EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 32 0.143
146
P DLT002 Dilated Cardiomyopathy 76 0.143
147
EPD031 Epidermolysis Bullosa Simplex, Ogna Type 21 0.142
148
EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 15 0.142
149
c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 31 0.142
150
MLN008 Melanoma 62 0.141
151
P MLT020 Multiple Sclerosis 78 0.140
152
P RHM011 Rheumatoid Arthritis 80 0.139
153
P PHC003 Pheochromocytoma 73 0.139
154
DCR007 Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome 19 0.138
155
MRF001 Marfan Syndrome 74 0.138
156
P CLR023 Colorectal Cancer 97 0.137
157
c MCL042 Macular Degeneration, Age-Related, 1 84 0.137
158
P BTH005 Bethlem Myopathy 1 52 0.135
159
P GRF003 Graft-Versus-Host Disease 71 0.132
160
P BCL006 B-Cell Lymphomas 65 0.131
161
c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 56 0.131
162
c EHL033 Ehlers-Danlos Syndrome, Classic Type 46 0.131
163
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 58 0.130
164
P NPH005 Nephronophthisis 56 0.128
165
P EMR001 Emery-Dreifuss Muscular Dystrophy 52 0.128
166
P BRD002 Bardet-Biedl Syndrome 62 0.128
167
c BRD010 Bardet-Biedl Syndrome 1 54 0.128
168
OLG005 Oligodontia-Colorectal Cancer Syndrome 17 0.128
169
P EPL140 Epilepsy, Idiopathic Generalized 57 0.128
170
c GST103 Gastric Cancer, Hereditary Diffuse 54 0.127
171
c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 21 0.127
172
c MYP079 Myopathy, Myofibrillar, 5 31 0.126
173
c MYP095 Myopathy, Distal, 4 19 0.126
174
P LPS004 Lupus Erythematosus 68 0.126
175
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 57 0.124
176
c ADM010 Adams-Oliver Syndrome 5 26 0.124
177
P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46 0.123
178
END072 Endotheliitis 45 0.121
179
c SYS001 Systemic Lupus Erythematosus 86 0.121
180
LYM040 Lymphoblastic Lymphoma 57 0.121
181
ALP046 Alport Syndrome, X-Linked 75 0.119
182
c NRB014 Neuroblastoma 3 18 0.118
183
CHL061 Childhood Leukemia 55 0.118
184
c FRS014 Fraser Syndrome 1 51 0.118
185
P ZLL001 Zellweger Syndrome 56 0.117
186
c PRX059 Peroxisome Biogenesis Disorder 1a 40 0.117
187
c NML003 Nemaline Myopathy 2 31 0.116
188
c LKM071 Leukemia, Chronic Lymphocytic 75 0.116
189
P LBR001 Leber Congenital Amaurosis 64 0.116
190
c LNG044 Long Qt Syndrome 1 61 0.116
191
MLG086 Malignant Hyperthermia Susceptibility 38 0.115
192
MLG143 Malignant Hyperthermia of Anesthesia 18 0.115
193
LGH007 Leigh Syndrome 67 0.114
194
PTZ001 Peutz-Jeghers Syndrome 70 0.114
195
P EHL052 Ehlers-Danlos Syndrome, Vascular Type 55 0.114
196
AST005 Asthma 82 0.113
197
JVN014 Juvenile Polyposis Syndrome 59 0.113
198
RTN187 Retinitis Pigmentosa-Deafness Syndrome 43 0.113
199
PLM134 Pulmonary Fibrosis, Idiopathic 73 0.113
200
P MCK013 Meckel Syndrome, Type 1 59 0.111
201
c MLT160 Multiple Endocrine Neoplasia, Type Iia 65 0.110
202
c FNC025 Fanconi Anemia, Complementation Group J 21 0.110
203
MTC020 Mitochondrial Complex Ii Deficiency 47 0.110
204
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.110
205
IMM136 Immune System Disease 56 0.109
206
c PRG094 Paragangliomas 5 20 0.109
207
c HPT016 Hepatitis B 67 0.109
208
P LNG032 Lung Cancer 98 0.108
209
VRL011 Viral Infectious Disease 63 0.108
210
HMT018 Hematopoietic Stem Cell Transplantation 57 0.108
211
c HYP708 Hyperaldosteronism, Familial, Type Iv 18 0.108
212
P HPT023 Hepatocellular Carcinoma 94 0.107
213
MTC007 Mitochondrial Complex I Deficiency 57 0.106
214
CLL038 Collagen Vi-Related Myopathy 24 0.106
215
HMN044 Human Immunodeficiency Virus Type 1 70 0.106
216
P KBK002 Kabuki Syndrome 1 63 0.106
217
P LFR001 Li-Fraumeni Syndrome 70 0.106
218
CYS001 Cystic Fibrosis 84 0.105
219
MTY001 Mutyh-Associated Polyposis 48 0.105
220
P HRM001 Hermansky-Pudlak Syndrome 62 0.105
221
c FML347 Familial Adenomatous Polyposis 2 22 0.105
222
MYL069 Myeloma, Multiple 83 0.104
223
MYC006 Mycosis Fungoides 72 0.104
224
c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29 0.104
225
RNL065 Renal Cell Carcinoma, Papillary, 1 70 0.104
226
AGN016 Aging 64 0.104
227
TBL022 Tibial Muscular Dystrophy, Tardive 22 0.103
228
c LKM004 Leukemia, B-Cell, Chronic 36 0.103
229
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.102
230
HRD073 Hereditary Myopathy with Early Respiratory Failure 26 0.102
231
P PLM037 Pulmonary Hypertension 75 0.102
232
P TBR001 Tuberous Sclerosis 68 0.102
233
P HYP370 Hypokalemic Periodic Paralysis, Type 1 59 0.102
234
DRM006 Dermatitis 66 0.102
235
c PLM164 Pulmonary Hypertension, Primary, 1 66 0.101
236
SLH001 Salih Myopathy 25 0.101
237
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67 0.101
238
P HYP818 Hypobetalipoproteinemia, Familial, 1 54 0.100
239
VNH007 Von Hippel-Lindau Syndrome 69 0.100
240
P XRD010 Xeroderma Pigmentosum, Variant Type 68 0.100
241
c GLY008 Glycogen Storage Disease Ii 64 0.100
242
P JNC001 Junctional Epidermolysis Bullosa 47 0.099
243
c PRV019 Periventricular Nodular Heterotopia 1 30 0.099
244
P RTN024 Retinoblastoma 70 0.098
245
P NJM001 Nijmegen Breakage Syndrome 70 0.098
246
P THY032 Thyroiditis 55 0.098
247
CNT105 Central Core Disease of Muscle 56 0.097
248
c ART028 Aortic Aneurysm, Familial Thoracic 4 27 0.097
249
P HLP001 Holoprosencephaly 66 0.097
250
SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 53 0.097
251
PRL017 Prolymphocytic Leukemia 50 0.097
252
ASP005 Asphyxiating Thoracic Dystrophy 43 0.097
253
P MTR004 Maturity-Onset Diabetes of the Young 60 0.097
254
P ACT074 Acute Lymphocytic Leukemia 59 0.097
255
MYL009 Myelodysplastic Syndrome 70 0.096
256
LYS001 Loeys-Dietz Syndrome 58 0.096
257
ACR006 Aceruloplasminemia 73 0.096
258
SPS057 Spasticity 41 0.096
259
P HMP002 Hemophagocytic Lymphohistiocytosis 67 0.095
260
BRT002 Birt-Hogg-Dube Syndrome 53 0.095
261
SPS019 Spastic Paraparesis 35 0.095
262
c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32 0.095
263
P NNN008 Noonan Syndrome 1 77 0.094
264
CNG008 Congenital Ichthyosiform Erythroderma 60 0.094
265
P HML033 Hemolytic Uremic Syndrome, Atypical 1 56 0.094
266
WRN001 Werner Syndrome 69 0.094
267
TRP002 Tropical Spastic Paraparesis 57 0.094
268
CHR103 Charge Syndrome 60 0.093
269
TMR010 Tumor Predisposition Syndrome 44 0.093
270
c OTP007 Otopalatodigital Syndrome, Type Ii 38 0.093
271
BP1002 Bap1 Tumor Predisposition Syndrome 35 0.093
272
c HPT001 Hepatitis C 71 0.093
273
c CNG006 Congenital Hypothyroidism 60 0.093
274
WLM014 Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome 53 0.093
275
c WLM013 Wilms Tumor 1 64 0.092
276
P FRN012 Frontometaphyseal Dysplasia 44 0.092
277
MLN014 Melnick-Needles Syndrome 38 0.092
278
c FRN049 Frontometaphyseal Dysplasia 1 25 0.092
279
PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 58 0.092
280
c EHL075 Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 33 0.092
281
LYM067 Lymphoid Leukemia 44 0.092
282
P LNG064 Lung Cancer Susceptibility 3 76 0.092
283
P NRN021 Neuronal Ceroid Lipofuscinosis 61 0.092
284
PRL032 Perlman Syndrome 45 0.092
285
P MDL005 Medulloblastoma 75 0.091
286
CRD043 Ceroid Storage Disease 36 0.091
287
INS024 Insulin-Like Growth Factor I 82 0.091
288
PNN001 Panniculitis 49 0.091
289
c ACT135 Acute Graft Versus Host Disease 56 0.091
290
EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 23 0.090
291
ATM095 Autoimmune Disease 64 0.090
292
FND002 Fundus Dystrophy 49 0.090
293
ALL014 Allergic Encephalomyelitis 36 0.090
294
MLG120 Malignant Migrating Partial Seizures of Infancy 35 0.090
295
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26 0.090
296
SRC014 Sarcoma 68 0.090
297
LYM027 Lymphopenia 55 0.090
298
c ART146 Arthrogryposis, Distal, Type 9 41 0.090
299
P NRF023 Neurofibromatosis, Type Ii 68 0.090
300
P HRD008 Hereditary Hemorrhagic Telangiectasia 61 0.090
301
c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 49 0.089
302
LYM133 Lymphoma, Hodgkin, Classic 71 0.089
303
SCH068 Schwartz-Jampel Syndrome, Type 1 52 0.089
304
PNC033 Pancreas Adenocarcinoma 64 0.089
305
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25 0.089
306
c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 20 0.089
307
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.088
308
P OST001 Osteopetrosis 61 0.088
309
ARR050 Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 36 0.088
310
c ART105 Aortic Aneurysm, Familial Thoracic 7 19 0.088
311
MLT028 Multiminicore Disease 32 0.087
312
SQM006 Squamous Cell Carcinoma 59 0.087
313
GST040 Gastric Adenocarcinoma 63 0.087
314
c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 24 0.087
315
P BCK002 Beckwith-Wiedemann Syndrome 57 0.087
316
P INF038 Influenza 76 0.086
317
P MPL001 Maple Syrup Urine Disease 65 0.086
318
BLM001 Bloom Syndrome 60 0.086
319
PRS047 Prostatitis 60 0.086
320
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 58 0.086
321
P SZR006 Seizure Disorder 56 0.085
322
P WLL002 Weill-Marchesani Syndrome 49 0.085
323
SQM013 Squamous Cell Carcinoma, Head and Neck 76 0.085
324
GLB002 Glioblastoma 72 0.085
325
MTC088 Mitochondrial Dna Depletion Syndrome 13 26 0.085
326
CMB008 Combined Oxidative Phosphorylation Deficiency 22 0.085
327
P BRT029 Brittle Cornea Syndrome 2 49 0.084
328
c SPS098 Spastic Paraplegia 30, Autosomal Recessive 33 0.084
329
ELL001 Ellis-Van Creveld Syndrome 60 0.084
330
P MYC007 Myocardial Infarction 79 0.084
331
P NRB001 Neuroblastoma 72 0.084
332
c OST135 Osteogenesis Imperfecta, Type I 56 0.084
333
CRD180 Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma 41 0.084
334
c LKM056 Leukemia, Chronic Lymphocytic 2 41 0.084
335
c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20 0.084
336
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 44 0.083
337
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 39 0.083
338
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 36 0.083
339
c BRT028 Brittle Cornea Syndrome 1 28 0.083
340
SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 39 0.083
341
PTN006 Pten Hamartoma Tumor Syndrome 37 0.083
342
c GLY007 Glycogen Storage Disease Iv 51 0.083
343
P CRN108 Cranioectodermal Dysplasia 1 53 0.082
344
P PSD087 Pseudoxanthoma Elasticum 67 0.082
345
P PSR002 Psoriasis 65 0.082
346
ACQ007 Acquired Immunodeficiency Syndrome 63 0.082
347
P STS008 Sotos Syndrome 1 56 0.082
348
P SNR003 Senior-Loken Syndrome 1 55 0.082
349
P OVR042 Ovarian Cancer 81 0.082
350
P DYS154 Dystonia 64 0.082
351
ALS001 Alstrom Syndrome 54 0.081
352
P MYS033 Miyoshi Muscular Dystrophy 1 43 0.081
353
P RTN008 Retinitis Pigmentosa 81 0.081
354
P ADN016 Adenocarcinoma 70 0.081
355
P THR014 Thrombocytopenia 64 0.081
356
c PSD112 Pseudohypoaldosteronism, Type I, Autosomal Dominant 44 0.081
357
P CRN037 Craniosynostosis 67 0.081
358
WLK001 Walker-Warburg Syndrome 59 0.081
359
CRH001 Crohn's Disease 78 0.080
360
CHN016 Cohen Syndrome 47 0.080
361
HRD031 Hereditary Paraganglioma-Pheochromocytoma Syndromes 47 0.080
362
c BRS098 Breast-Ovarian Cancer, Familial 4 17 0.080
363
P GLY010 Glycine Encephalopathy 53 0.080
364
MSC152 Muscular Dystrophy, Becker Type 60 0.079
365
c CLR123 Ciliary Dyskinesia, Primary, 37 16 0.079
366
c SPR113 Spermatogenic Failure 18 14 0.079
367
P ANP001 Anaplastic Large Cell Lymphoma 59 0.079
368
c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 22 0.079
369
XLN224 X-Linked Non-Specific Intellectual Disability 22 0.079
370
NNS032 Non-Syndromic X-Linked Intellectual Disability 20 0.079
371
ESP021 Esophageal Cancer 77 0.079
372
CHR629 Charcot-Marie-Tooth Disease and Deafness 42 0.079
373
c ACT073 Acute Leukemia 60 0.078
374
c HPT073 Hepatitis C Virus 72 0.078
375
P HYP802 Hypocalcemia, Autosomal Dominant 1 62 0.078
376
BLD131 Bladder Urothelial Carcinoma 60 0.078
377
P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 33 0.078
378
c MYS076 Myasthenic Syndrome, Congenital, 8 23 0.078
379
DFF005 Diffuse Large B-Cell Lymphoma 56 0.078
380
P MTC003 Metachromatic Leukodystrophy 71 0.077
381
WLS001 Wilson Disease 71 0.077
382
c CHR417 Chronic Graft Versus Host Disease 64 0.077
383
SKN019 Skin Melanoma 69 0.077
384
GLC006 Galactosemia 65 0.077
385
MCS002 Mucositis 60 0.077
386
c MCP001 Mucopolysaccharidosis Iii 60 0.077
387
P FCL005 Focal Segmental Glomerulosclerosis 59 0.077
388
P VSC013 Visceral Heterotaxy 46 0.077
389
c NNS007 Nonsyndromic Deafness 44 0.077
390
P FLL037 Follicular Lymphoma 69 0.077
391
c HMP029 Hemophilia a 68 0.077
392
P BRC006 Brachydactyly 50 0.077
393
c PTT029 Pitt-Hopkins-Like Syndrome 1 26 0.077
394
c BRG010 Brugada Syndrome 8 22 0.077
395
P RTT002 Rett Syndrome 82 0.076
396
P DRM053 Dermatitis, Atopic 67 0.076
397
LYM009 Lymphocytic Choriomeningitis 50 0.076
398
LNG039 Lung Squamous Cell Carcinoma 59 0.076
399
OCC002 Occult Macular Dystrophy 33 0.076
400
LYM094 Lymphedema, Primary, with Myelodysplasia 29 0.076
401
NNS044 Non-Syndromic Genetic Deafness 21 0.076
402
BRL012 Bare Lymphocyte Syndrome, Type Ii 57 0.076
403
HYP052 Hyperkalemic Periodic Paralysis 55 0.076
404
APL001 Aplastic Anemia 73 0.076
405
c PSD092 Pseudohypoaldosteronism, Type Iie 36 0.076
406
ISC004 Ischemia 65 0.075
407
CLT003 Colitis 62 0.075
408
RNL114 Renal Cell Carcinoma, Nonpapillary 59 0.075
409
CHR003 Cherubism 56 0.075
410
EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 51 0.075
411
c CRN139 Cornelia De Lange Syndrome 1 47 0.075
412
P EPS003 Episodic Ataxia 56 0.075
413
ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 37 0.075
414
c PRM012 Primary Polycythemia 52 0.074
415
c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 38 0.074
416
DYS030 Dysferlinopathy 34 0.074
417
c PSD090 Pseudohypoaldosteronism, Type Iia 32 0.074
418
DSR002 Disorders of Intracellular Cobalamin Metabolism 19 0.074
419
P ERY058 Erythrocytosis, Familial, 1 55 0.074
420
PLT019 Platelet Disorder, Familial, with Associated Myeloid Malignancy 32 0.074
421
c KLF004 Kleefstra Syndrome 1 30 0.074
422
P CRV035 Cervical Cancer 69 0.074
423
c GLY003 Glycogen Storage Disease Iii 55 0.074
424
P KLF001 Kleefstra Syndrome 46 0.074
425
P WRD001 Waardenburg's Syndrome 58 0.073
426
c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 18 0.073
427
RNL078 Renal Dysplasia 46 0.073
428
P NPH012 Nephrotic Syndrome 59 0.073
429
c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 43 0.073
430
c FNC048 Fanconi Anemia, Complementation Group O 25 0.073
431
P LVR013 Liver Disease 75 0.073
432
P CFF008 Coffin-Siris Syndrome 1 58 0.073
433
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37 0.073
434
DBT083 Diabetes Mellitus, Permanent Neonatal 60 0.072
435
PLL001 Pallister-Hall Syndrome 58 0.072
436
P RNL028 Renal Tubular Dysgenesis 48 0.072
437
c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 23 0.072
438
P PNC044 Pancreatitis 64 0.072
439
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 64 0.072
440
MTC097 Mitochondrial Complex Iv Deficiency 54 0.072
441
c CRD187 Cardiomyopathy, Dilated, 3b 46 0.072
442
INC002 Inclusion Body Myositis 63 0.072
443
DNY001 Denys-Drash Syndrome 53 0.072
444
P ISL078 Isolated Ectopia Lentis 42 0.072
445
EHL079 Ehlers-Danlos Syndrome, Dermatosparaxis Type 31 0.072
446
c WLL040 Weill-Marchesani Syndrome 4 23 0.072
447
GST053 Gastric Cancer 77 0.071
448
GRG001 Greig Cephalopolysyndactyly Syndrome 52 0.071
449
FRS002 Frasier Syndrome 50 0.071
450
c LFT017 Left Ventricular Noncompaction 8 21 0.071
451
P DBT009 Diabetes Mellitus 64 0.071
452
HML018 Homologous Wasting Disease 18 0.071
453
BRN028 Brain Cancer 72 0.071
454
P INF037 Inflammatory Bowel Disease 53 0.071
455
P THR117 Three M Syndrome 1 51 0.071
456
c RBN021 Rubinstein-Taybi Syndrome 1 49 0.071
457
c MLG151 Malignant Hyperthermia 5 19 0.071
458
FTL009 Fetal Akinesia Deformation Sequence 53 0.071
459
ATM052 Autoimmune Disease 1 34 0.071
460
P KLL001 Kallmann Syndrome 63 0.070
461
MTH078 Methylmalonic Aciduria, Cblb Type 61 0.070
462
c STR084 Stargardt Disease 1 48 0.070
463
P GLP001 Geleophysic Dysplasia 34 0.070
464
P ANR048 Aniridia 1 65 0.070
465
c FML001 Familial Atrial Fibrillation 54 0.070
466
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 41 0.070
467
c NRP041 Neuropathy, Hereditary Sensory, Type Ie 37 0.070
468
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 28 0.070
469
ECT007 Ectodermal Dysplasia/skin Fragility Syndrome 42 0.069
470
PND002 Pendred Syndrome 55 0.069
471
P MGL001 Megaloblastic Anemia 51 0.069
472
WYR002 Weyers Acrofacial Dysostosis 35 0.069
473
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.069
474
c CRD091 Cardiomyopathy, Dilated, 1dd 20 0.069
475
P DST002 Distal Arthrogryposis 56 0.069
476
c ERY048 Erythrocytosis, Familial, 2 47 0.069
477
c ATM006 Autoimmune Lymphoproliferative Syndrome 70 0.069
478
c WLM018 Wilms Tumor 5 60 0.069
479
c NPH055 Nephrotic Syndrome, Type 1 46 0.069
480
c MYH004 Myh9 Related Thrombocytopenia 23 0.069
481
c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 22 0.069
482
PHN003 Phenylketonuria 73 0.068
483
P PNC035 Pancreatic Cancer 79 0.068
484
P CRN018 Coronary Artery Anomaly 68 0.068
485
P DYS007 Dyskeratosis Congenita 67 0.068
486
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 52 0.068
487
P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 39 0.068
488
c PRG021 Paragangliomas 4 24 0.068
489
IMM078 Immunodeficiency 21 37 0.068
490
c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 46 0.067
491
MLR004 Malaria 83 0.067
492
P HRT032 Heart Disease 74 0.067
493
PFF001 Pfeiffer Syndrome 73 0.067
494
c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 44 0.067
495
PTR032 Peters-Plus Syndrome 62 0.067
496
NXS001 Naxos Disease 47 0.067
497
c ANT085 Anterior Segment Dysgenesis 5 24 0.067
498
ART140 Arteries, Anomalies of 65 0.066
499
c FML023 Familial Hemiplegic Migraine 51 0.066
500
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 50 0.066
501
P FBR025 Fibrochondrogenesis 49 0.066
502
c FML306 Familial or Sporadic Hemiplegic Migraine 27 0.066
503
c FBR029 Fibrochondrogenesis 1 22 0.066
504
CRD237 Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction 22 0.066
505
c PTT042 Pitt-Hopkins-Like Syndrome 15 0.066
506
P KRB001 Krabbe Disease 69 0.066
507
P ACH003 Achromatopsia 56 0.066
508
P SCK004 Seckel Syndrome 54 0.066
509
P RBN002 Robinow Syndrome 47 0.066
510
c RBN018 Robinow Syndrome, Autosomal Dominant 1 39 0.066
511
P EPL198 Epilepsy, Myoclonic Juvenile 28 0.066
512
ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 37 0.065
513
P DMN001 Diamond-Blackfan Anemia 69 0.065
514
CHD001 Chediak-Higashi Syndrome 65 0.065
515
DNN002 Donnai-Barrow Syndrome 43 0.065
516
EPL150 Epilepsy, Familial Temporal Lobe, 7 19 0.065
517
c THR092 Thrombophilia Due to Thrombin Defect 67 0.065
518
P PLY006 Polydactyly 57 0.065
519
P GLM045 Glioma 54 0.065
520
OVR012 Ovarian Serous Cystadenocarcinoma 48 0.065
521
SPN008 Spondyloepiphyseal Dysplasia Congenita 58 0.065
522
MLT163 Multiple Pterygium Syndrome, Escobar Variant 51 0.065
523
c LSS006 Lissencephaly 2 35 0.065
524
c MCR239 Microcephaly 5, Primary, Autosomal Recessive 28 0.065
525
NRL016 Neural Tube Defects 78 0.064
526
c EPL209 Epilepsy, Idiopathic Generalized 10 59 0.064
527
TNG002 Tangier Disease 64 0.064
528
P HYP097 Hyperekplexia 56 0.064
529
MTC056 Mitochondrial Dna Depletion Syndrome 4a 51 0.064
530
SHP005 Shprintzen-Goldberg Craniosynostosis Syndrome 42 0.064
531
SHR075 Short-Rib Thoracic Dysplasia 9 with or Without Polydactyly 42 0.064
532
c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 39 0.064
533
PYR040 Pyropoikilocytosis, Hereditary 35 0.064
534
CND011 Cone Dystrophy 3 29 0.064
535
MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 27 0.064
536
PNT016 Pontoneocerebellar Hypoplasia 21 0.064
537
c CHR139 Charcot-Marie-Tooth Disease Type 2c 17 0.064
538
FBR012 Fabry Disease 71 0.064
539
CMM004 Common Variable Immunodeficiency 70 0.064
540
c PRG126 Progressive Familial Heart Block 47 0.064
541
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 91 0.063
542
P FRN006 Frontotemporal Dementia 67 0.063
543
HYP458 Hyper Ige Syndrome 49 0.063
544
P BNG026 Benign Neonatal Seizures 37 0.063
545
BNG006 Benign Familial Neonatal Epilepsy 36 0.063
546
c FML250 Familial Progressive Cardiac Conduction Defect 33 0.063
547
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 31 0.063
548
c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 27 0.063
549
c SML038 Small Cell Cancer of the Lung 68 0.063
550
GTL001 Gitelman Syndrome 63 0.063
551
FCL081 Focal Cortical Dysplasia, Type Ii 57 0.063
552
P RST002 Restrictive Cardiomyopathy 52 0.063
553
c HMC039 Hemochromatosis, Type 1 70 0.063
554
BLS001 Blau Syndrome 59 0.063
555
c LYN004 Lynch Syndrome I 58 0.063
556
P CRV039 Cervicitis 49 0.063
557
P PRT042 Parietal Foramina 37 0.063
558
FMR004 Fumarase Deficiency 34 0.063
559
NLP001 Nail-Patella Syndrome 55 0.062
560
TMT001 Timothy Syndrome 51 0.062
561
P MYT023 Myotonia Congenita 48 0.062
562
c KNB006 Knobloch Syndrome 1 36 0.062
563
ADR007 Adrenoleukodystrophy 71 0.062
564
c LKM063 Leukemia, Chronic Myeloid 70 0.062
565
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 66 0.062
566
CYT008 Cytomegalovirus Infection 56 0.062
567
P MLT074 Multiple Endocrine Neoplasia 55 0.062
568
P ATR010 Atrial Heart Septal Defect 54 0.062
569
MNT006 Manitoba Oculotrichoanal Syndrome 26 0.062
570
c NMN015 Niemann-Pick Disease, Type C1 68 0.062
571
P THR015 Thrombophilia 57 0.062
572
P HRP006 Herpes Simplex 69 0.061
573
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 59 0.061
574
EWN002 Ewing's Family of Tumors 56 0.061
575
P RHZ001 Rhizomelic Chondrodysplasia Punctata 48 0.061
576
c PRM032 Primary Congenital Glaucoma 36 0.061
577
c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27 0.061
578
LPD012 Lipoid Congenital Adrenal Hyperplasia 69 0.061
579
SPP011 Suppression of Tumorigenicity 12 61 0.061
580
P LYM033 Lymphoproliferative Syndrome 55 0.061
581
c EPS035 Episodic Ataxia, Type 2 54 0.061
582
INT276 Interatrial Communication 28 0.061
583
SZR001 Sezary's Disease 63 0.061
584
DNH001 Donohue Syndrome 59 0.061
585
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 58 0.061
586
BDD001 Budd-Chiari Syndrome 58 0.061
587
PNL019 Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities 56 0.061
588
CRN239 Carnitine Deficiency, Systemic Primary 53 0.061
589
STF002 Stiff Skin Syndrome 51 0.061
590
P ADM011 Adams-Oliver Syndrome 51 0.061
591
c SZR007 Seizures, Benign Familial Infantile, 3 46 0.061
592
c HYP794 Hyperoxaluria, Primary, Type I 41 0.061
593
c CWD008 Cowden Syndrome 6 24 0.061
594
c FCL028 Focal Segmental Glomerulosclerosis 5 20 0.061
595
P ALG028 Alagille Syndrome 1 73 0.061
596
P CCK001 Cockayne Syndrome 63 0.061
597
c PNC108 Pancreatitis, Hereditary 59 0.061
598
UTR024 Uterine Carcinosarcoma 59 0.061
599
P DST101 Distal Hereditary Motor Neuropathies 28 0.061
600
P EPD009 Epidermolysis Bullosa Dystrophica 58 0.060
601
CTR172 Citrullinemia, Classic 55 0.060
602
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 52 0.060
603
PLR009 Pol Iii-Related Leukodystrophies 40 0.060
604
c ERL006 Early-Onset Familial Alzheimer Disease 38 0.060
605
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 36 0.060
606
WGN003 Wagner Syndrome 27 0.060
607
BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 26 0.060
608
WGN007 Wagner Vitreoretinopathy 24 0.060
609
INS010 Insulin-Resistant Acanthosis Nigricans, Type a 20 0.060
610
DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 19 0.060
611
SKN016 Skin Disease 66 0.060
612
WVR001 Weaver Syndrome 61 0.060
613
ALL006 Allergic Asthma 59 0.060
614
P ALZ034 Alzheimer Disease 87 0.060
615
OMN001 Omenn Syndrome 67 0.060
616
c GLC092 Glaucoma, Primary Open Angle 57 0.060
617
c MNN047 Mannosidosis, Alpha B, Lysosomal 56 0.060
618
CNN011 Cenani-Lenz Syndactyly Syndrome 48 0.060
619
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 38 0.060
620
MSS002 Mass Syndrome 37 0.060
621
ACR043 Acromicric Dysplasia 35 0.060
622
c MYC083 Myoclonic Epilepsy, Familial Infantile 30 0.060
623
c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 25 0.060
624
c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23 0.060
625
ALP103 Alpha-1-Antitrypsin Deficiency 61 0.059
626
c HPT003 Hepatitis a 61 0.059
627
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 54 0.059
628
PLS009 Plasma Cell Neoplasm 51 0.059
629
c EPS028 Episodic Pain Syndrome, Familial, 3 16 0.059
630
P PNM007 Pneumonia 69 0.059
631
VNW001 Von Willebrand's Disease 60 0.059
632
P MYC008 Myocarditis 58 0.059
633
BTN003 Biotinidase Deficiency 56 0.059
634
ART001 Arterial Tortuosity Syndrome 53 0.059
635
P ALT001 Alternating Hemiplegia of Childhood 48 0.059
636
c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48 0.059
637
PRS055 Pierson Syndrome 41 0.059
638
c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26 0.059
639
c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 25 0.059
640
P MYS003 Myasthenia Gravis 72 0.059
641
P HMR003 Hemorrhagic Disease 60 0.059
642
LKC009 Leukocyte Adhesion Deficiency, Type I 57 0.059
643
MNT001 Mantle Cell Lymphoma 73 0.058
644
HLT001 Holt-Oram Syndrome 61 0.058
645
P GRV001 Graves' Disease 61 0.058
646
PRR007 Perry Syndrome 50 0.058
647
P MWT001 Mowat-Wilson Syndrome 46 0.058
648
P LRS001 Larsen Syndrome 46 0.058
649
P ACH011 Achondrogenesis 44 0.058
650
P WRB001 Warburg Micro Syndrome 32 0.058
651
c SZR022 Seizures, Benign Familial Neonatal, 1 31 0.058
652
c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21 0.058
653
c BTH006 Bethlem Myopathy 2 19 0.058
654
c PSD068 Pseudohypoaldosteronism, Type Iic 18 0.058
655
P BLD051 Blood Coagulation Disease 50 0.058
656
c SHR030 Short Qt Syndrome 43 0.058
657
c FML297 Familial Thyroid Dyshormonogenesis 37 0.058
658
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 59 0.058
659
LKN001 Leukoencephalopathy with Vanishing White Matter 56 0.058
660
P FML052 Familial Cold Autoinflammatory Syndrome 53 0.058
661
P JRV004 Jervell and Lange-Nielsen Syndrome 1 53 0.058
662
CRB009 Cerebritis 41 0.058
663
ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 39 0.058
664
IMM185 Immunodeficiency 26 with or Without Neurologic Abnormalities 30 0.058
665
c CRD155 Cardiomyopathy, Dilated, 1kk 23 0.058
666
ARR024 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 19 0.058
667
c CRD159 Cardiomyopathy, Dilated, 1hh 19 0.058
668
c ULL003 Ullrich Congenital Muscular Dystrophy 2 17 0.058
669
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.057
670
ALX003 Alexander Disease 57 0.057
671
LTH001 Lethal Midline Granuloma 41 0.057
672
INS023 Insensitivity to Pain, Congenital, with Anhidrosis 40 0.057
673
PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 38 0.057
674
c GLY060 Glycogen Storage Disease Ia 57 0.057
675
c MLT086 Multiple Endocrine Neoplasia, Type Iv 52 0.057
676
c DYS056 Dystonia 12 51 0.057
677
c MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 46 0.057
678
c MYP072 Myopathy, Myofibrillar, 1 43 0.057
679
MNG006 Monogenic Diabetes 37 0.057
680
VSC008 Vascular Hemostatic Disease 36 0.057
681
BRN118 Brain Small Vessel Disease with or Without Ocular Anomalies 35 0.057
682
MJD001 Majeed Syndrome 34 0.057
683
c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34 0.057
684
c MYS011 Myasthenia Gravis Congenital 30 0.057
685
c JBR025 Joubert Syndrome 17 21 0.057
686
P UVT001 Uveitis 60 0.057
687
WLF001 Wolff-Parkinson-White Syndrome 59 0.057
688
FCT006 Factor V Deficiency 53 0.057
689
c PSR017 Psoriasis 2 39 0.057
690
P WSK001 Wiskott-Aldrich Syndrome 77 0.056
691
P ENC004 Encephalitis 65 0.056
692
MNK001 Menkes Disease 63 0.056
693
P ESP024 Esophagitis 63 0.056
694
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 51 0.056
695
NRL018 Neural Tube Defects, Folate-Sensitive 44 0.056
696
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 44 0.056
697
c MLG147 Malignant Hyperthermia 1 36 0.056
698
c FML294 Familial Short Qt Syndrome 33 0.056
699
GLN010 Glanzmann Thrombasthenia 65 0.056
700
CNT097 Central Hypoventilation Syndrome, Congenital 64 0.056
701
c ACT075 Acute Myocardial Infarction 58 0.056
702
P MCR010 Microcephaly 57 0.056
703
EPD001 Epidermodysplasia Verruciformis 50 0.056
704
LGS001 Legius Syndrome 50 0.056
705
c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 40 0.056
706
GBM001 Gaba Aminotransferase Deficiency 16 0.056
707
LSH001 Leishmaniasis 70 0.056
708
PRT118 Protoporphyria, Erythropoietic 58 0.056
709
PPL025 Popliteal Pterygium Syndrome 54 0.056
710
WLF002 Wolf-Hirschhorn Syndrome 52 0.056
711
RTN023 Retinitis 50 0.056
712
PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 45 0.056
713
FLT006 Floating-Harbor Syndrome 44 0.056
714
MYP136 Myopathy, Centronuclear, X-Linked 44 0.056
715
SCR020 Sacral Defect with Anterior Meningocele 42 0.056
716
P EPL116 Epileptic Encephalopathy, Childhood-Onset 39 0.056
717
NTR007 Neutral Lipid Storage Disease with Myopathy 36 0.056
718
ACT118 Acute Non Lymphoblastic Leukemia 32 0.056
719
CHR247 Chromosome 4p Deletion 30 0.056
720
c MYP080 Myopathy, Myofibrillar, 4 29 0.056
721
DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 25 0.056
722
PLM143 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 24 0.056
723
HMC016 Homocystinuria Due to Cbs Deficiency 20 0.056
724
LTN022 Late-Onset Distal Myopathy, Markesbery-Griggs Type 7 0.056
725
DPR016 Depression 72 0.055
726
c VSC019 Vesicoureteral Reflux 1 57 0.055
727
SPR004 Supravalvular Aortic Stenosis 53 0.055
728
SMT004 Smith-Lemli-Opitz Syndrome 68 0.055
729
P PRD008 Periodontitis 66 0.055
730
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 52 0.055
731
c THR082 Thrombophilia Due to Activated Protein C Resistance 46 0.055
732
MCL075 Macular Dystrophy, Corneal 46 0.055
733
HYP003 Hypermethioninemia 36 0.055
734
c MYP081 Myopathy, Myofibrillar, 6 25 0.055
735
c FML258 Familial Acute Necrotizing Encephalopathy 12 0.055
736
P FML011 Familial Adenomatous Polyposis 71 0.054
737
PRT010 Parathyroid Carcinoma 64 0.054
738
P HML002 Hemolytic Anemia 62 0.054
739
EPL131 Epilepsy, Pyridoxine-Dependent 37 0.054
740
c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27 0.054
741
CDK006 Cdkl5 Deficiency Disorder 23 0.054
742
PRP001 Propionic Acidemia 62 0.054
743
c USH036 Usher Syndrome, Type I 60 0.054
744
P CTR002 Cataract 60 0.054
745
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 59 0.054
746
P EXD001 Exudative Vitreoretinopathy 50 0.054
747
RTC005 Reticulosarcoma 49 0.054
748
MLT134 Multiple Pterygium Syndrome, Lethal Type 45 0.054
749
ACR013 Acrodysostosis 45 0.054
750
NRN002 Neuronitis 41 0.054
751
FRN039 Frank-Ter Haar Syndrome 38 0.054
752
c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23 0.054
753
VCC001 Vaccinia 50 0.054
754
MYL031 Myeloproliferative Neoplasm 63 0.053
755
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 60 0.053
756
GRY002 Gray Platelet Syndrome 55 0.053
757
CYS010 Cystinosis 54 0.053
758
CYS036 Cystinosis, Nephropathic 48 0.053
759
CNG046 Congenital Fiber-Type Disproportion 48 0.053
760
c THR045 Thrombotic Thrombocytopenic Purpura, Congenital 48 0.053
761
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46 0.053
762
KFR001 Kufor-Rakeb Syndrome 46 0.053
763
ERL001 Early Myoclonic Encephalopathy 42 0.053
764
P CNG003 Congenital Dyserythropoietic Anemia 41 0.053
765
PRG017 Paraganglioma and Gastric Stromal Sarcoma 40 0.053
766
P HYP761 Hypouricemia, Renal, 1 39 0.053
767
IMM072 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 39 0.053
768
c MYP131 Myopathy, Centronuclear, 2 35 0.053
769
c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30 0.053
770
c EPD068 Epidermolysis Bullosa Simplex, Autosomal Recessive 2 19 0.053
771
c MLN055 Melanoma, Cutaneous Malignant 10 16 0.053
772
CYS013 Cystinuria 63 0.053
773
P ANG001 Angelman Syndrome 61 0.053
774
FND001 Fundus Albipunctatus 53 0.053
775
P TRC031 Trichorhinophalangeal Syndrome 23 0.053
776
PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 62 0.053
777
c HYP731 Hyperaldosteronism, Familial, Type I 56 0.053
778
P TRC086 Trichohepatoenteric Syndrome 1 54 0.053
779
P PTT014 Pitt-Hopkins Syndrome 51 0.053
780
P WHT013 White Sponge Nevus 1 45 0.053
781
PRX015 Paroxysmal Extreme Pain Disorder 44 0.053
782
PLM100 Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques 36 0.053
783
P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 33 0.053
784
c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 29 0.053
785
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 28 0.053
786
P PRX010 Paroxysmal Ventricular Fibrillation 28 0.053
787
c MLT059 Multiple Synostoses Syndrome 1 28 0.053
788
PRX022 Paroxysmal Choreoathetosis 24 0.053
789
GLY033 Glycogen Storage Disease of Heart, Lethal Congenital 23 0.053
790
c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20 0.053
791
LYM052 Lymphomatoid Papulosis 44 0.052
792
CMP090 Complement Component 3 Deficiency, Autosomal Recessive 39 0.052
793
NRN016 Neuronal Migration Disorders 38 0.052
794
c ART101 Aortic Valve Disease 2 73 0.052
795
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 69 0.052
796
PRP030 Purpura 61 0.052
797
c PRG018 Paragangliomas 1 58 0.052
798
P CRB048 Cerebral Cavernous Malformations 57 0.052
799
ACR008 Acrocallosal Syndrome 57 0.052
800
P ACR001 Aicardi-Goutieres Syndrome 56 0.052
801
PRM236 Primary Biliary Cholangitis 55 0.052
802
P SCK002 Sick Sinus Syndrome 53 0.052
803
BNG009 Benign Epilepsy with Centrotemporal Spikes 45 0.052
804
P OTS002 Otospondylomegaepiphyseal Dysplasia 44 0.052
805
BHR002 Bohring-Opitz Syndrome 43 0.052
806
c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 41 0.052
807
ART035 Arterial Calcification of Infancy 38 0.052
808
P ART106 Arterial Calcification, Generalized, of Infancy, 1 31 0.052
809
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31 0.052
810
c MCR211 Microphthalmia, Isolated 6 31 0.052
811
c FML272 Familial Sick Sinus Syndrome 25 0.052
812
SCH037 Schinzel-Giedion Midface Retraction Syndrome 24 0.052
813
c PRG020 Paragangliomas 3 24 0.052
814
SCH024 Schinzel Giedion Syndrome 22 0.052
815
c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20 0.052
816
ARR028 Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 19 0.052
817
VSC011 Vasculitis 65 0.052
818
KND001 Kindler Syndrome 50 0.052
819
VCS001 Vici Syndrome 46 0.052
820
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.051
821
TTN003 Tetanus 64 0.051
822
CRB011 Cerebrotendinous Xanthomatosis 63 0.051
823
c OVR114 Ovarian Cancer 1 62 0.051
824
LDD002 Liddle Syndrome 54 0.051
825
TTH002 Tooth Agenesis 53 0.051
826
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 52 0.051
827
DYS192 Dystonia, Dopa-Responsive 50 0.051
828
INT038 Interdigitating Dendritic Cell Sarcoma 44 0.051
829
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 43 0.051
830
ATX029 Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia 40 0.051
831
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 36 0.051
832
AMY086 Amyotrophy, Hereditary Neuralgic 35 0.051
833
KHL003 Kohlschutter-Tonz Syndrome 35 0.051
834
c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34 0.051
835
GCH010 Gaucher Disease, Atypical, Due to Saposin C Deficiency 21 0.051
836
MYS016 Myosclerosis, Autosomal Recessive 20 0.051
837
c CRD149 Cardiomyopathy, Dilated, 1jj 19 0.051
838
P CLC063 Celiac Disease 1 71 0.051
839
P THY023 Thymoma 65 0.051
840
P OCL002 Oculocutaneous Albinism 58 0.051
841
CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 53 0.051
842
RTC009 Reticulum Cell Sarcoma 52 0.051
843
ORT008 Orotic Aciduria 49 0.051
844
RCK004 Rickets 62 0.050
845
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60 0.050
846
AND002 Androgen Insensitivity Syndrome 56 0.050
847
ERY029 Erythermalgia, Primary 54 0.050
848
DYS022 Dyschromatosis Symmetrica Hereditaria 49 0.050
849
c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44 0.050
850
CD4003 Cd40 Ligand Deficiency 44 0.050
851
c USH037 Usher Syndrome, Type Iia 44 0.050
852
ANG025 Angioimmunoblastic Lymphadenopathy with Dysproteinemia 43 0.050
853
MLY001 Molybdenum Cofactor Deficiency 39 0.050
854
CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 37 0.050
855
BTT001 Bietti Crystalline Corneoretinal Dystrophy 36 0.050
856
DFF021 Diffuse Mesangial Sclerosis 36 0.050
857
PRM057 Paramyotonia Congenita of Von Eulenburg 34 0.050
858
c NPH047 Nephrotic Syndrome, Type 4 25 0.050
859
c CRD092 Cardiomyopathy, Dilated, 1w 17 0.050
860
c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 10 0.050
861
SLF012 Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency 9 0.050
862
IDP082 Idiopathic Ventricular Fibrillation, Non Brugada Type 8 0.050
863
P FML018 Familial Mediterranean Fever 73 0.050
864
P CRN015 Cornelia De Lange Syndrome 64 0.050
865
P NTR004 Neutropenia 60 0.050
866
P RNL100 Renal Hypodysplasia/aplasia 1 57 0.050
867
c PRM196 Premature Ovarian Failure 1 71 0.050
868
P CRD224 Cardiofaciocutaneous Syndrome 1 64 0.050
869
c MCL062 Mucolipidosis Ii Alpha/beta 63 0.050
870
DPH001 Diphtheria 62 0.050
871
c ATS007 Autism Spectrum Disorder 61 0.050
872
c MCP004 Mucopolysaccharidosis Iv 59 0.050
873
HLC001 Holocarboxylase Synthetase Deficiency 58 0.050
874
P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 50 0.050
875
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 0.050
876
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 38 0.050
877
MYT030 Myotonia, Potassium-Aggravated 38 0.050
878
FCT034 Factor V and Factor Viii, Combined Deficiency of, 2 36 0.050
879
CMB020 Combined Saposin Deficiency 30 0.050
880
c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 29 0.050
881
ARL004 Aural Atresia, Congenital 20 0.050
882
c BRG004 Brugada Syndrome 4 18 0.050
883
ULC004 Ulcerative Colitis 72 0.049
884
BRK010 Burkitt Lymphoma 68 0.049
885
P INF032 Infertility 59 0.049
886
P PRM006 Primary Biliary Cirrhosis 53 0.049
887
P NML001 Nemaline Myopathy 47 0.049
888
THR067 Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 22 0.049
889
c HMP004 Hemophilia B 67 0.049
890
STS003 Sitosterolemia 58 0.049
891
SHR072 Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly 55 0.049
892
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 54 0.049
893
DST005 Diastrophic Dysplasia 52 0.049
894
OST044 Osteoglophonic Dysplasia 51 0.049
895
c CNG012 Congenital Generalized Lipodystrophy 50 0.049
896
ALP097 Alopecia Universalis Congenita 48 0.049
897
OPT054 Opitz-Kaveggia Syndrome 45 0.049
898
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 44 0.049
899
c MTR019 Maturity-Onset Diabetes of the Young, Type 2 43 0.049
900
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40 0.049
901
LYS017 Loeys-Dietz Syndrome 4 38 0.049
902
ATR013 Atrichia with Papular Lesions 35 0.049
903
c SPS071 Spastic Paraplegia 48, Autosomal Recessive 33 0.049
904
c MYT027 Myotonia Congenita, Autosomal Dominant 33 0.049
905
c MYT029 Myotonia Congenita, Autosomal Recessive 30 0.049
906
c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 29 0.049
907
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 29 0.049
908
c CWD007 Cowden Syndrome 3 22 0.049
909
FCT029 Factor V and Factor Viii, Combined Deficiency of, 1 22 0.049
910
P TYS001 Tay-Sachs Disease 71 0.048
911
P ESS003 Essential Thrombocythemia 70 0.048
912
PRT037 Pertussis 68 0.048
913
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 67 0.048
914
P RHN004 Rhinitis 61 0.048
915
c BLR024 Biliary Cirrhosis, Primary, 1 36 0.048
916
HPD002 Hepadnavirus Infection 25 0.048
917
P NSP012 Nasopharyngeal Carcinoma 67 0.048
918
CST001 Costello Syndrome 66 0.048
919
c CRN300 Coronary Heart Disease 1 64 0.048
920
c MCP024 Mucopolysaccharidosis Type Vi 62 0.048
921
LYS003 Lysinuric Protein Intolerance 52 0.048
922
SKN027 Skin Conditions 48 0.048
923
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 44 0.048
924
SLR001 Sialuria 43 0.048
925
c OST118 Osteogenesis Imperfecta, Type Viii 42 0.048
926
MYP139 Myopathy, Proximal, and Ophthalmoplegia 37 0.048
927
GLL028 Gillespie Syndrome 33 0.048
928
c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 31 0.048
929
MCH011 Meacham Syndrome 29 0.048
930
MBD001 Mbd5 Haploinsufficiency 27 0.048
931
c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 26 0.048
932
ARR027 Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 22 0.048
933
PLM001 Pulmonary Tuberculosis 71 0.048
934
P DNT020 Dent Disease 1 59 0.048
935
c AMG001 Amegakaryocytic Thrombocytopenia, Congenital 52 0.048
936
IMM055 Immunodeficiency, Common Variable, 8, with Autoimmunity 23 0.048
937
P BLD134 Bladder Cancer 69 0.047
938
P KDN018 Kidney Disease 68 0.047
939
P CWD001 Cowden Disease 67 0.047
940
P HYP086 Hypothyroidism 64 0.047
941
c SCL052 Scleroderma, Familial Progressive 64 0.047
942
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 55 0.047
943
c GLY004 Glycogen Storage Disease V 54 0.047
944
c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 50 0.047
945
c BSL038 Basal Ganglia Calcification, Idiopathic, 1 45 0.047
946
P XNT004 Xanthinuria 39 0.047
947
STV003 Stuve-Wiedemann Syndrome 39 0.047
948
DPM007 Dopamine Beta-Hydroxylase Deficiency, Congenital 39 0.047
949
BRD001 Brody Myopathy 38 0.047
950
c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 36 0.047
951
2MT003 2-Methylbutyryl-Coa Dehydrogenase Deficiency 31 0.047
952
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 31 0.047
953
ODN009 Odontoonychodermal Dysplasia 28 0.047
954
TYL002 Tylosis with Esophageal Cancer 28 0.047
955
LRY022 Laryngoonychocutaneous Syndrome 28 0.047
956
c PRK093 Parkinson Disease 8, Autosomal Dominant 27 0.047
957
HRZ002 Horizontal Gaze Palsy with Progressive Scoliosis 26 0.047
958
IMM122 Immunodeficiency 41 with Lymphoproliferation and Autoimmunity 26 0.047
959
GZP003 Gaze Palsy, Familial Horizontal, with Progressive Scoliosis, 1 22 0.047
960
PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 20 0.047
961
c ATM011 Autoimmune Hepatitis 62 0.047
962
c MNN043 Meningioma, Familial 60 0.047
963
VND007 Van Der Woude Syndrome 1 55 0.047
964
P PRM002 Primary Hyperoxaluria 53 0.047
965
c MYS052 Myasthenic Syndrome, Congenital, 10 37 0.047
966
MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 22 0.047
967
P SCH015 Schizophrenia 69 0.046
968
PRT036 Peritonitis 66 0.046
969
P SPN046 Spinal Muscular Atrophy 63 0.046
970
PRR002 Pure Red-Cell Aplasia 51 0.046
971
P PTY003 Pityriasis Rubra Pilaris 50 0.046
972
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 47 0.046
973
P CHN059 Chondrocalcinosis 46 0.046
974
NCL006 Nicolaides-Baraitser Syndrome 44 0.046
975
BRL011 Bare Lymphocyte Syndrome, Type I 44 0.046
976
P KLN006 Koolen-De Vries Syndrome 39 0.046
977
c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39 0.046
978
c CTR098 Cataract 1, Multiple Types 35 0.046
979
MTT002 Metatropic Dysplasia 35 0.046
980
c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 34 0.046
981
c HYP373 Hyper-Ige Recurrent Infection Syndrome, Autosomal Recessive 33 0.046
982
MTC008 Mitochondrial Complex Iii Deficiency 32 0.046
983
CYL004 Cylindromatosis, Familial 31 0.046
984
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31 0.046
985
GLT005 Glutamate Formiminotransferase Deficiency 28 0.046
986
c MNT270 Mental Retardation, Autosomal Recessive 53 25 0.046
987
CRN272 Craniometadiaphyseal Dysplasia 23 0.046
988
IMM117 Immunodeficiency by Defective Expression of Hla Class 1 22 0.046
989
c BTT014 Beta-Thalassemia 69 0.046
990
BDY004 Body Mass Index Quantitative Trait Locus 11 68 0.046
991
P THL005 Thalassemia 64 0.046
992
CNN005 Connective Tissue Disease 64 0.046
993
c AFB002 Afibrinogenemia, Congenital 60 0.046
994
c SVR003 Severe Congenital Neutropenia 58 0.046
995
WLL001 Williams-Beuren Syndrome 63 0.046
996
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 62 0.046
997
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60 0.046
998
P HST010 Histiocytosis 59 0.046
999
RLP002 Relapsing-Remitting Multiple Sclerosis 57 0.046
1000
c INF071 Inflammatory Bowel Disease 1 53 0.046
1001
LKC005 Leukocyte Adhesion Deficiency, Type Iii 48 0.046
1002
c ORF037 Orofaciodigital Syndrome I 48 0.046
1003
P ORF001 Orofaciodigital Syndrome 48 0.046
1004
P GLT035 Glutaric Acidemia I 45 0.046
1005
LYS019 Loeys-Dietz Syndrome 1 45 0.046
1006
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 40 0.046
1007
DSM002 Desmosterolosis 36 0.046
1008
NNK001 Nonaka Myopathy 35 0.046
1009
c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34 0.046
1010
c EPP014 Epiphyseal Dysplasia, Multiple, 4 26 0.046
1011
c DFN278 Deafness, Autosomal Dominant 65 23 0.046
1012
BRW008 Brown-Vialetto-Van Laere Syndrome 2 23 0.046
1013
ARR041 Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 19 0.046
1014
c MLN076 Melanoma, Cutaneous Malignant 5 16 0.046
1015
P CHR012 Chronic Granulomatous Disease 69 0.045
1016
P INT068 Intestinal Disease 64 0.045
1017
MLN007 Male Infertility 53 0.045
1018
KRT019 Keratitis, Hereditary 52 0.045
1019
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 50 0.045
1020
c MGL018 Megaloblastic Anemia 1 42 0.045
1021
c HRD010 Hereditary Spastic Paraplegia 67 0.045
1022
P CHR071 Charcot-Marie-Tooth Disease 65 0.045
1023
FCT002 Factor Xi Deficiency 64 0.045
1024
P GLM007 Glomerulonephritis 61 0.045
1025
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 58 0.045
1026
PLM012 Pulmonary Sarcoidosis 57 0.045
1027
MTC027 Mitochondrial Trifunctional Protein Deficiency 54 0.045
1028
P PMP001 Pemphigus 54 0.045
1029
PRN001 Purine Nucleoside Phosphorylase Deficiency 52 0.045
1030
P GNT009 Giant Axonal Neuropathy 51 0.045
1031
P TYR004 Tyrosinemia 48 0.045
1032
SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 47 0.045
1033
TRN022 Transcobalamin Ii Deficiency 46 0.045
1034
MRS002 Marshall Syndrome 44 0.045
1035
EPD033 Epidermolysis Bullosa, Lethal Acantholytic 38 0.045
1036
c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 37 0.045
1037
P SMT022 Smith-Mccort Dysplasia 1 35 0.045
1038
P ANT061 Antenatal Bartter Syndrome 34 0.045
1039
c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 34 0.045
1040
P MYS032 Myosin Storage Myopathy 33 0.045
1041
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.045
1042
c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 26 0.045
1043
ISL011 Isolated Aniridia 26 0.045
1044
c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 24 0.045
1045
SKN024 Skin Fragility-Woolly Hair Syndrome 23 0.045
1046
P FVL006 Foveal Hypoplasia 1 23 0.045
1047
c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 19 0.045
1048
c CLR097 Ciliary Dyskinesia, Primary, 23 19 0.045
1049
c ATR067 Atrioventricular Septal Defect 4 16 0.045
1050
c EFM001 Efemp2-Related Cutis Laxa 14 0.045
1051
SKN061 Skin Fragility-Woolly Hair-Palmoplantar Keratoderma Syndrome 10 0.045
1052
ALL003 Allergic Rhinitis 67 0.044
1053
LNG099 Lung Disease 67 0.044
1054
BRS051 Breast Disease 66 0.044
1055
DBN001 Dubin-Johnson Syndrome 55 0.044
1056
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.044
1057
P RTN016 Retinal Degeneration 54 0.044
1058
P FNC043 Fanconi Anemia, Complementation Group E 51 0.044
1059
P MCL013 Mucolipidosis Iv 67 0.044
1060
HYP266 Hypoxia 61 0.044
1061
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 60 0.044
1062
HYP810 Hypereosinophilic Syndrome, Idiopathic 58 0.044
1063
OST015 Osteochondrodysplasia 53 0.044
1064
P BRN035 Brain Stem Glioma 50 0.044
1065
ICH002 Ichthyosis Bullosa of Siemens 48 0.044
1066
MNL001 Monilethrix 46 0.044
1067
FRY006 Fryns Microphthalmia Syndrome 45 0.044
1068
c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 44 0.044
1069
MCR018 Microcytic Anemia 43 0.044
1070
IRN004 Iron-Refractory Iron Deficiency Anemia 42 0.044
1071
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 42 0.044
1072
c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 41 0.044
1073
LYS021 Loeys-Dietz Syndrome 3 38 0.044
1074
P HYP599 Hypoparathyroidism, Familial Isolated 37 0.044
1075
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 37 0.044
1076
c THR090 Thrombocythemia 1 36 0.044
1077
HYP550 Hypomagnesemia 1, Intestinal 35 0.044