# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
RTN023 |
Retinitis |
46 |
0.500 |
|
2 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.500 |
|
3 |
|
|
CYT005 |
Cytomegalovirus Retinitis |
50 |
0.476 |
|
4 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
60 |
0.411 |
|
5 |
|
|
HMN044 |
Human Immunodeficiency Virus Type 1 |
71 |
0.384 |
|
6 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
0.373 |
|
7 |
|
|
CYT008 |
Cytomegalovirus Infection |
57 |
0.369 |
|
8 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.340 |
|
9 |
|
|
CYT004 |
Cytomegalic Inclusion Disease |
31 |
0.227 |
|
10 |
|
P
|
ENC004 |
Encephalitis |
61 |
0.191 |
|
11 |
|
|
HMN014 |
Human Immunodeficiency Virus Infectious Disease |
55 |
0.173 |
|
12 |
|
P
|
NTR004 |
Neutropenia |
63 |
0.163 |
|
13 |
|
|
CHC001 |
Chickenpox |
60 |
0.163 |
|
14 |
|
c
|
ACT071 |
Acute Kidney Failure |
60 |
0.152 |
|
15 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.135 |
|
16 |
|
P
|
ESP024 |
Esophagitis |
62 |
0.135 |
|
17 |
|
|
GNT003 |
Genital Herpes |
54 |
0.135 |
|
18 |
|
|
VRL011 |
Viral Infectious Disease |
61 |
0.129 |
|
19 |
|
c
|
HPT016 |
Hepatitis B |
59 |
0.122 |
|
20 |
|
|
KPS004 |
Kaposi Sarcoma |
75 |
0.115 |
|
21 |
|
|
HRP004 |
Herpes Zoster |
60 |
0.115 |
|
22 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.108 |
|
23 |
|
P
|
GRF003 |
Graft-Versus-Host Disease |
72 |
0.108 |
|
24 |
|
|
HHV001 |
Hhv-6 Encephalitis |
18 |
0.108 |
|
25 |
|
P
|
HPT021 |
Hepatitis |
67 |
0.100 |
|
26 |
|
|
RTN017 |
Retinal Detachment |
61 |
0.100 |
|
27 |
|
c
|
DBT091 |
Diabetes Insipidus, Nephrogenic, Autosomal |
66 |
0.091 |
|
28 |
|
P
|
DBT005 |
Diabetes Insipidus |
55 |
0.091 |
|
29 |
|
|
PNC001 |
Pancytopenia |
54 |
0.091 |
|
30 |
|
c
|
ACT135 |
Acute Graft Versus Host Disease |
52 |
0.091 |
|
31 |
|
P
|
PNM007 |
Pneumonia |
68 |
0.081 |
|
32 |
|
P
|
THR014 |
Thrombocytopenia |
67 |
0.081 |
|
33 |
|
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.081 |
|
34 |
|
|
SRC014 |
Sarcoma |
65 |
0.081 |
|
35 |
|
P
|
PNC044 |
Pancreatitis |
61 |
0.081 |
|
36 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.081 |
|
37 |
|
|
CMR002 |
Coumarin Resistance |
56 |
0.081 |
|
38 |
|
|
SPN035 |
Spindle Cell Sarcoma |
53 |
0.081 |
|
39 |
|
|
HYP017 |
Hypophosphatemia |
50 |
0.081 |
|
40 |
|
|
PLY021 |
Polyradiculopathy |
41 |
0.081 |
|
41 |
|
|
CDQ001 |
Cauda Equina Syndrome |
38 |
0.081 |
|
42 |
|
|
PPL061 |
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome |
25 |
0.081 |
|
43 |
|
P
|
APL001 |
Aplastic Anemia |
74 |
0.070 |
|
44 |
|
|
LYM143 |
Lymphoma, Non-Hodgkin, Familial |
72 |
0.070 |
|
45 |
|
|
MYL009 |
Myelodysplastic Syndrome |
70 |
0.070 |
|
46 |
|
|
DWN001 |
Down Syndrome |
70 |
0.070 |
|
47 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
69 |
0.070 |
|
48 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.070 |
|
49 |
|
|
KRT019 |
Keratitis, Hereditary |
65 |
0.070 |
|
50 |
|
|
GST106 |
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets |
64 |
0.070 |
|
51 |
|
|
CLT003 |
Colitis |
62 |
0.070 |
|
52 |
|
P
|
NPH012 |
Nephrotic Syndrome |
60 |
0.070 |
|
53 |
|
c
|
ACT027 |
Acute Pancreatitis |
60 |
0.070 |
|
54 |
|
P
|
EXN002 |
Exanthem |
57 |
0.070 |
|
55 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
57 |
0.070 |
|
56 |
|
|
GST050 |
Gastrointestinal System Disease |
56 |
0.070 |
|
57 |
|
|
THR016 |
Thrombophlebitis |
51 |
0.070 |
|
58 |
|
|
CNG069 |
Congenital Cytomegalovirus |
49 |
0.070 |
|
59 |
|
|
MNN009 |
Meningoencephalitis |
49 |
0.070 |
|
60 |
|
|
ATX019 |
Ataxia with Vitamin E Deficiency |
42 |
0.070 |
|
61 |
|
|
PST053 |
Postherpetic Neuralgia |
40 |
0.070 |
|
62 |
|
|
48X005 |
48,xyyy |
39 |
0.070 |
|
63 |
|
|
PRS123 |
Persistent Generalized Lymphadenopathy |
37 |
0.070 |
|
64 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.058 |
|
65 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.058 |
|
66 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
79 |
0.058 |
|
67 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.058 |
|
68 |
|
c
|
LKM063 |
Leukemia, Chronic Myeloid |
72 |
0.058 |
|
69 |
|
P
|
SRC025 |
Sarcoidosis 1 |
70 |
0.058 |
|
70 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.058 |
|
71 |
|
P
|
AMY004 |
Amyloidosis |
70 |
0.058 |
|
72 |
|
|
MYL005 |
Myelofibrosis |
70 |
0.058 |
|
73 |
|
|
PLY001 |
Polycythemia Vera |
69 |
0.058 |
|
74 |
|
P
|
HYP802 |
Hypocalcemia, Autosomal Dominant 1 |
69 |
0.058 |
|
75 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.058 |
|
76 |
|
|
MNT001 |
Mantle Cell Lymphoma |
69 |
0.058 |
|
77 |
|
P
|
LKM002 |
Leukemia |
68 |
0.058 |
|
78 |
|
P
|
ESS003 |
Essential Thrombocythemia |
68 |
0.058 |
|
79 |
|
c
|
JVN004 |
Juvenile Myelomonocytic Leukemia |
67 |
0.058 |
|
80 |
|
|
BRK010 |
Burkitt Lymphoma |
67 |
0.058 |
|
81 |
|
P
|
FLL037 |
Follicular Lymphoma |
67 |
0.058 |
|
82 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
67 |
0.058 |
|
83 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
0.058 |
|
84 |
|
|
THY121 |
Thyroid Gland Anaplastic Carcinoma |
66 |
0.058 |
|
85 |
|
|
MYC006 |
Mycosis Fungoides |
66 |
0.058 |
|
86 |
|
|
MYL031 |
Myeloproliferative Neoplasm |
66 |
0.058 |
|
87 |
|
P
|
NRV007 |
Nervous System Disease |
66 |
0.058 |
|
88 |
|
|
LYM129 |
Lymphoma, Mucosa-Associated Lymphoid Type |
64 |
0.058 |
|
89 |
|
|
HMT002 |
Hematologic Cancer |
62 |
0.058 |
|
90 |
|
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
62 |
0.058 |
|
91 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.058 |
|
92 |
|
|
WLD007 |
Waldenstroem's Macroglobulinemia |
61 |
0.058 |
|
93 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.058 |
|
94 |
|
|
SZR001 |
Sezary's Disease |
60 |
0.058 |
|
95 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
0.058 |
|
96 |
|
|
THY029 |
Thyroid Carcinoma |
59 |
0.058 |
|
97 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.058 |
|
98 |
|
P
|
GLM007 |
Glomerulonephritis |
57 |
0.058 |
|
99 |
|
c
|
CHR417 |
Chronic Graft Versus Host Disease |
57 |
0.058 |
|
100 |
|
P
|
PLY018 |
Polycythemia |
56 |
0.058 |
|
101 |
|
P
|
ADL017 |
Adult T-Cell Leukemia |
56 |
0.058 |
|
102 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
0.058 |
|
103 |
|
|
PLS011 |
Plasmacytoma |
56 |
0.058 |
|
104 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
55 |
0.058 |
|
105 |
|
|
HRY003 |
Hairy Cell Leukemia |
55 |
0.058 |
|
106 |
|
c
|
ATM082 |
Autoimmune Lymphoproliferative Syndrome, Type V |
54 |
0.058 |
|
107 |
|
|
LYM040 |
Lymphoblastic Lymphoma |
54 |
0.058 |
|
108 |
|
P
|
TRM003 |
Tremor |
54 |
0.058 |
|
109 |
|
|
PLS016 |
Plasma Cell Leukemia |
53 |
0.058 |
|
110 |
|
P
|
CNT005 |
Central Nervous System Lymphoma |
53 |
0.058 |
|
111 |
|
|
FNG017 |
Fungal Infectious Disease |
53 |
0.058 |
|
112 |
|
|
RTN193 |
Retinitis Pigmentosa and Erythrocytic Microcytosis |
52 |
0.058 |
|
113 |
|
|
ANG046 |
Angioimmunoblastic T-Cell Lymphoma |
52 |
0.058 |
|
114 |
|
|
ESP023 |
Esophageal Disease |
52 |
0.058 |
|
115 |
|
|
HRP009 |
Herpes Simplex Encephalitis |
52 |
0.058 |
|
116 |
|
|
MRG003 |
Marginal Zone B-Cell Lymphoma |
52 |
0.058 |
|
117 |
|
|
THR004 |
Thrombocytosis |
51 |
0.058 |
|
118 |
|
|
PLS009 |
Plasma Cell Neoplasm |
51 |
0.058 |
|
119 |
|
P
|
RNL007 |
Renal Tubular Acidosis |
51 |
0.058 |
|
120 |
|
c
|
ALM001 |
Al Amyloidosis |
50 |
0.058 |
|
121 |
|
c
|
PRM012 |
Primary Polycythemia |
50 |
0.058 |
|
122 |
|
|
RDC002 |
Radiculopathy |
50 |
0.058 |
|
123 |
|
|
TCL023 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
50 |
0.058 |
|
124 |
|
|
DYS073 |
Dysphagia |
50 |
0.058 |
|
125 |
|
|
TCL002 |
T-Cell Large Granular Lymphocyte Leukemia |
49 |
0.058 |
|
126 |
|
|
ATY042 |
Atypical Chronic Myeloid Leukemia |
49 |
0.058 |
|
127 |
|
c
|
CHR418 |
Chronic Leukemia |
49 |
0.058 |
|
128 |
|
|
URT001 |
Urethritis |
49 |
0.058 |
|
129 |
|
c
|
THR090 |
Thrombocythemia 1 |
49 |
0.058 |
|
130 |
|
|
MYL075 |
Myelodysplastic/myeloproliferative Neoplasm |
49 |
0.058 |
|
131 |
|
P
|
MST002 |
Mast-Cell Leukemia |
49 |
0.058 |
|
132 |
|
|
MCR004 |
Macroglobulinemia |
49 |
0.058 |
|
133 |
|
c
|
FLL041 |
Follicular Lymphoma 1 |
49 |
0.058 |
|
134 |
|
P
|
CTN015 |
Cutaneous T Cell Lymphoma |
49 |
0.058 |
|
135 |
|
|
INT054 |
Intraocular Lymphoma |
48 |
0.058 |
|
136 |
|
|
PRS012 |
Pars Planitis |
48 |
0.058 |
|
137 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.058 |
|
138 |
|
|
PRL017 |
Prolymphocytic Leukemia |
47 |
0.058 |
|
139 |
|
|
RTC005 |
Reticulosarcoma |
47 |
0.058 |
|
140 |
|
|
LYM012 |
Lymphoplasmacytic Lymphoma |
47 |
0.058 |
|
141 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
47 |
0.058 |
|
142 |
|
|
PLS025 |
Plasmablastic Lymphoma |
47 |
0.058 |
|
143 |
|
|
LYM019 |
Lymphosarcoma |
46 |
0.058 |
|
144 |
|
|
LYM051 |
Lymphomatoid Granulomatosis |
45 |
0.058 |
|
145 |
|
c
|
PRM038 |
Primary Agammaglobulinemia |
44 |
0.058 |
|
146 |
|
|
BNM001 |
Bone Marrow Cancer |
43 |
0.058 |
|
147 |
|
|
HDG002 |
Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance |
42 |
0.058 |
|
148 |
|
|
CHR286 |
Chronic Neutrophilic Leukemia |
42 |
0.058 |
|
149 |
|
|
LMB024 |
Limbic Encephalitis |
41 |
0.058 |
|
150 |
|
|
PRS063 |
Paresthesia |
41 |
0.058 |
|
151 |
|
|
LRG008 |
Large Granular Lymphocyte Leukemia |
41 |
0.058 |
|
152 |
|
|
SYS070 |
Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood |
36 |
0.058 |
|
153 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
0.058 |
|
154 |
|
c
|
CHR064 |
Chronic Monocytic Leukemia |
33 |
0.058 |
|
155 |
|
|
LYM048 |
Lymphoma, Large-Cell, Immunoblastic |
29 |
0.058 |
|
156 |
|
|
PDG002 |
Pdgfrb-Associated Chronic Eosinophilic Leukemia |
27 |
0.058 |
|
157 |
|
|
CRT084 |
Creatinine Clearance Quantitative Trait Locus |
25 |
0.058 |
|
158 |
|
|
HDG004 |
Hodgkin's Granuloma |
23 |
0.058 |
|
159 |
|
|
HDG006 |
Hodgkin's Paragranuloma |
22 |
0.058 |
|
160 |
|
|
HML018 |
Homologous Wasting Disease |
22 |
0.058 |
|
161 |
|
|
PFF001 |
Pfeiffer Syndrome |
79 |
0.041 |
|
162 |
|
P
|
WSK001 |
Wiskott-Aldrich Syndrome |
72 |
0.041 |
|
163 |
|
c
|
EXD008 |
Exudative Vitreoretinopathy 1 |
71 |
0.041 |
|
164 |
|
c
|
MCL062 |
Mucolipidosis Ii Alpha/beta |
68 |
0.041 |
|
165 |
|
P
|
MNN013 |
Meningitis |
66 |
0.041 |
|
166 |
|
P
|
DYS154 |
Dystonia |
65 |
0.041 |
|
167 |
|
P
|
DBT009 |
Diabetes Mellitus |
64 |
0.041 |
|
168 |
|
P
|
MVM001 |
Movement Disease |
63 |
0.041 |
|
169 |
|
P
|
VSC011 |
Vasculitis |
62 |
0.041 |
|
170 |
|
P
|
CTR002 |
Cataract |
60 |
0.041 |
|
171 |
|
P
|
MYC008 |
Myocarditis |
59 |
0.041 |
|
172 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.041 |
|
173 |
|
|
PRG009 |
Progressive Multifocal Leukoencephalopathy |
59 |
0.041 |
|
174 |
|
P
|
CYS018 |
Cystitis |
59 |
0.041 |
|
175 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
0.041 |
|
176 |
|
|
MCR013 |
Microphthalmia |
57 |
0.041 |
|
177 |
|
|
CHL067 |
Cholecystitis |
57 |
0.041 |
|
|
179 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.041 |
|
180 |
|
|
HYP005 |
Hypokalemia |
55 |
0.041 |
|
181 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.041 |
|
182 |
|
P
|
MYP006 |
Myopia |
55 |
0.041 |
|
183 |
|
P
|
STR020 |
Strabismus |
55 |
0.041 |
|
184 |
|
P
|
END047 |
Endophthalmitis |
53 |
0.041 |
|
185 |
|
|
PST046 |
Post-Transplant Lymphoproliferative Disease |
53 |
0.041 |
|
186 |
|
P
|
MNC007 |
Monocytic Leukemia |
53 |
0.041 |
|
187 |
|
|
GTR002 |
Goiter |
53 |
0.041 |
|
188 |
|
P
|
PLM175 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 |
51 |
0.041 |
|
189 |
|
|
MYL001 |
Myelitis |
51 |
0.041 |
|
190 |
|
|
ENT011 |
Enterocolitis |
51 |
0.041 |
|
191 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.041 |
|
192 |
|
|
STM007 |
Stomatitis |
50 |
0.041 |
|
193 |
|
|
CHR078 |
Chorioretinitis |
50 |
0.041 |
|
194 |
|
|
47X002 |
47,xyy |
49 |
0.041 |
|
195 |
|
|
SPL018 |
Splenomegaly |
48 |
0.041 |
|
196 |
|
|
HYP025 |
Hyperphosphatemia |
48 |
0.041 |
|
197 |
|
c
|
VRL012 |
Viral Meningitis |
48 |
0.041 |
|
198 |
|
c
|
PRM226 |
Primary Central Nervous System Lymphoma |
48 |
0.041 |
|
199 |
|
|
MCR209 |
Microcephaly, Epilepsy, and Diabetes Syndrome |
47 |
0.041 |
|
200 |
|
|
THY128 |
Thyroid Tumor |
47 |
0.041 |
|
201 |
|
|
CLN019 |
Colonic Disease |
47 |
0.041 |
|
202 |
|
P
|
PRR002 |
Pure Red-Cell Aplasia |
47 |
0.041 |
|
203 |
|
|
STV007 |
Stevens-Johnson Syndrome/toxic Epidermal Necrolysis |
47 |
0.041 |
|
204 |
|
|
FLL008 |
Folliculitis |
46 |
0.041 |
|
205 |
|
|
HMR023 |
Hemorrhagic Cystitis |
45 |
0.041 |
|
206 |
|
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
45 |
0.041 |
|
207 |
|
|
ACT003 |
Acute Kidney Tubular Necrosis |
45 |
0.041 |
|
208 |
|
|
GRN017 |
Granulocytopenia |
44 |
0.041 |
|
209 |
|
P
|
RPD001 |
Rapidly Progressive Glomerulonephritis |
44 |
0.041 |
|
210 |
|
|
RFR003 |
Refractive Error |
43 |
0.041 |
|
211 |
|
|
RDC006 |
Red Cell Aplasia |
43 |
0.041 |
|
212 |
|
|
CRS001 |
Crescentic Glomerulonephritis |
43 |
0.041 |
|
213 |
|
|
MXD050 |
Mixed Phenotype Acute Leukemia |
43 |
0.041 |
|
214 |
|
P
|
MLT008 |
Multinodular Goiter |
42 |
0.041 |
|
215 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.041 |
|
216 |
|
|
MCH006 |
Mechanical Strabismus |
42 |
0.041 |
|
217 |
|
|
LKP003 |
Leukoplakia |
39 |
0.041 |
|
218 |
|
|
OPT010 |
Optic Papillitis |
38 |
0.041 |
|
219 |
|
|
ORL019 |
Oral Hairy Leukoplakia |
37 |
0.041 |
|
220 |
|
|
HRP025 |
Herpes Simplex Virus Keratitis |
36 |
0.041 |
|
221 |
|
|
FXD003 |
Fixed Drug Eruption |
35 |
0.041 |
|
222 |
|
|
ESN016 |
Eosinophilic Pustular Folliculitis |
25 |
0.041 |
|