# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
PLT019 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy |
40 |
22.171 |
|
2 |
|
P
|
LKM002 |
Leukemia |
68 |
5.867 |
|
3 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
5.845 |
|
4 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
5.111 |
|
5 |
|
P
|
THR014 |
Thrombocytopenia |
67 |
4.332 |
|
6 |
|
|
MYL009 |
Myelodysplastic Syndrome |
70 |
3.861 |
|
7 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
3.664 |
|
8 |
|
|
DWN001 |
Down Syndrome |
70 |
3.606 |
|
9 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
3.538 |
|
10 |
|
|
BLD053 |
Blood Platelet Disease |
49 |
3.436 |
|
11 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
3.322 |
|
12 |
|
c
|
LKM063 |
Leukemia, Chronic Myeloid |
72 |
3.046 |
|
13 |
|
|
MGK001 |
Megakaryocytic Leukemia |
64 |
2.997 |
|
14 |
|
|
ACT119 |
Acute Promyelocytic Leukemia |
63 |
2.997 |
|
15 |
|
c
|
JVN004 |
Juvenile Myelomonocytic Leukemia |
67 |
2.936 |
|
16 |
|
P
|
MNC007 |
Monocytic Leukemia |
53 |
2.936 |
|
17 |
|
|
MYL031 |
Myeloproliferative Neoplasm |
66 |
2.584 |
|
18 |
|
|
TCL027 |
T-Cell Acute Lymphoblastic Leukemia |
51 |
2.557 |
|
19 |
|
|
PNC001 |
Pancytopenia |
54 |
2.455 |
|
20 |
|
|
HMT002 |
Hematologic Cancer |
62 |
2.432 |
|
21 |
|
|
ATY042 |
Atypical Chronic Myeloid Leukemia |
49 |
2.432 |
|
22 |
|
|
RFR010 |
Refractory Anemia |
48 |
2.432 |
|
23 |
|
|
MYL005 |
Myelofibrosis |
70 |
2.407 |
|
24 |
|
|
CHL061 |
Childhood Leukemia |
48 |
2.407 |
|
25 |
|
c
|
CHL157 |
Childhood B-Cell Acute Lymphoblastic Leukemia |
33 |
2.407 |
|
26 |
|
|
BRN028 |
Brain Cancer |
74 |
2.377 |
|
27 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
1.798 |
|
28 |
|
|
ANP006 |
Anaplastic Ependymoma |
46 |
1.750 |
|
29 |
|
|
TFR002 |
Tafro Syndrome |
34 |
1.750 |
|
30 |
|
|
TTR021 |
Tetrasomy 21 |
22 |
1.750 |
|
31 |
|
|
ACT193 |
Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) |
54 |
1.720 |
|
32 |
|
|
AGG002 |
Aggressive Systemic Mastocytosis |
49 |
1.720 |
|
33 |
|
|
CRB138 |
Core Binding Factor Acute Myeloid Leukemia |
43 |
1.720 |
|
34 |
|
P
|
8P1002 |
8p11 Myeloproliferative Syndrome |
39 |
1.720 |
|
35 |
|
|
CMP097 |
Complex Chromosomal Rearrangement |
25 |
1.720 |
|
36 |
|
P
|
ACT194 |
Acute Myeloid Leukemia with T(8;21)(q22;q22) Translocation |
24 |
1.720 |
|
37 |
|
|
ISL033 |
Isolated Delta-Storage Pool Disease |
12 |
1.720 |
|
38 |
|
|
WLL001 |
Williams-Beuren Syndrome |
60 |
1.681 |
|
39 |
|
|
CBP001 |
Cebpa-Associated Familial Acute Myeloid Leukemia |
28 |
1.681 |
|
40 |
|
|
CHR178 |
Chromosomal Triplication |
35 |
0.183 |
|
41 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.142 |
|
42 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
0.134 |
|
43 |
|
|
ERY051 |
Erythroleukemia, Familial |
56 |
0.134 |
|
44 |
|
|
PRC049 |
Precursor T-Cell Acute Lymphoblastic Leukemia |
48 |
0.134 |
|
45 |
|
|
CHL152 |
Childhood Acute Lymphocytic Leukemia |
44 |
0.116 |
|
46 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.106 |
|
47 |
|
P
|
PSR002 |
Psoriasis |
62 |
0.106 |
|
48 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.095 |
|
49 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.095 |
|
50 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.095 |
|
51 |
|
|
LYM040 |
Lymphoblastic Lymphoma |
54 |
0.095 |
|
52 |
|
|
PST011 |
Pustulosis of Palm and Sole |
52 |
0.095 |
|
53 |
|
|
STR089 |
Storage Pool Platelet Disease |
47 |
0.095 |
|
54 |
|
|
ACT113 |
Acute Myeloblastic Leukemia with Maturation |
46 |
0.095 |
|
55 |
|
|
CHL149 |
Childhood Acute Myeloid Leukemia |
44 |
0.095 |
|
56 |
|
|
CYT019 |
Cytogenetically Normal Acute Myeloid Leukemia |
33 |
0.095 |
|
57 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.082 |
|
58 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.082 |
|
59 |
|
P
|
NTR004 |
Neutropenia |
63 |
0.082 |
|
60 |
|
|
PSR001 |
Psoriatic Arthritis |
61 |
0.082 |
|
61 |
|
c
|
AMG001 |
Amegakaryocytic Thrombocytopenia, Congenital |
54 |
0.082 |
|
62 |
|
c
|
PSR017 |
Psoriasis 2 |
53 |
0.082 |
|
63 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
38 |
0.082 |
|
64 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.067 |
|
65 |
|
|
ESP021 |
Esophageal Cancer |
90 |
0.067 |
|
66 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
86 |
0.067 |
|
67 |
|
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
81 |
0.067 |
|
68 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
78 |
0.067 |
|
69 |
|
|
OST012 |
Osteoarthritis |
78 |
0.067 |
|
70 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.067 |
|
71 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.067 |
|
72 |
|
|
END057 |
Endometrial Cancer |
74 |
0.067 |
|
73 |
|
|
BRK010 |
Burkitt Lymphoma |
67 |
0.067 |
|
74 |
|
P
|
MCR115 |
Microvascular Complications of Diabetes 5 |
66 |
0.067 |
|
75 |
|
P
|
CLD001 |
Cleidocranial Dysplasia |
65 |
0.067 |
|
76 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.067 |
|
77 |
|
|
LNG099 |
Lung Disease |
60 |
0.067 |
|
78 |
|
|
GRY002 |
Gray Platelet Syndrome |
59 |
0.067 |
|
79 |
|
c
|
SVR003 |
Severe Congenital Neutropenia |
59 |
0.067 |
|
80 |
|
|
PLS011 |
Plasmacytoma |
56 |
0.067 |
|
81 |
|
c
|
FNC042 |
Fanconi Anemia, Complementation Group D2 |
56 |
0.067 |
|
82 |
|
P
|
NRF002 |
Neurofibromatosis |
56 |
0.067 |
|
83 |
|
c
|
THY109 |
Thyroid Cancer, Nonmedullary, 1 |
56 |
0.067 |
|
84 |
|
|
JVN009 |
Juvenile Pilocytic Astrocytoma |
55 |
0.067 |
|
85 |
|
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
53 |
0.067 |
|
86 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.067 |
|
87 |
|
|
DFF036 |
Differentiated Thyroid Carcinoma |
52 |
0.067 |
|
88 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.067 |
|
89 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.067 |
|
90 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.067 |
|
91 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
47 |
0.067 |
|
92 |
|
|
MXD050 |
Mixed Phenotype Acute Leukemia |
43 |
0.067 |
|
93 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.067 |
|
94 |
|
P
|
RNG032 |
Ring Chromosome |
42 |
0.067 |
|
95 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
0.067 |
|
96 |
|
P
|
INH011 |
Inherited Bone Marrow Failure Syndromes |
34 |
0.067 |
|
97 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.067 |
|
98 |
|
c
|
RNG017 |
Ring Chromosome 21 |
24 |
0.067 |
|
99 |
|
c
|
CLD019 |
Cleidocranial Dysplasia Spectrum Disorder |
21 |
0.067 |
|
100 |
|
|
ACT186 |
Acute Megakaryoblastic Leukemia in Down Syndrome |
16 |
0.067 |
|
101 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.047 |
|
102 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.047 |
|
103 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.047 |
|
104 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.047 |
|
105 |
|
|
CRV035 |
Cervical Cancer |
76 |
0.047 |
|
106 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.047 |
|
107 |
|
P
|
CNR004 |
Cone-Rod Dystrophy 2 |
73 |
0.047 |
|
108 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.047 |
|
109 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.047 |
|
110 |
|
P
|
SRC025 |
Sarcoidosis 1 |
70 |
0.047 |
|
111 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
0.047 |
|
112 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.047 |
|
113 |
|
P
|
OST001 |
Osteopetrosis |
70 |
0.047 |
|
114 |
|
P
|
TTR001 |
Tetralogy of Fallot |
70 |
0.047 |
|
115 |
|
P
|
MYP004 |
Myopathy |
70 |
0.047 |
|
116 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
0.047 |
|
117 |
|
|
PLY001 |
Polycythemia Vera |
69 |
0.047 |
|
118 |
|
P
|
ART022 |
Arthritis |
69 |
0.047 |
|
119 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
69 |
0.047 |
|
120 |
|
|
ART016 |
Aortic Aneurysm |
69 |
0.047 |
|
121 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.047 |
|
122 |
|
|
CMM004 |
Common Variable Immunodeficiency |
68 |
0.047 |
|
123 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
68 |
0.047 |
|
124 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
67 |
0.047 |
|
125 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
0.047 |
|
126 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
66 |
0.047 |
|
127 |
|
c
|
MCR129 |
Microvascular Complications of Diabetes 1 |
66 |
0.047 |
|
128 |
|
P
|
DRM053 |
Dermatitis, Atopic |
66 |
0.047 |
|
129 |
|
P
|
NRV007 |
Nervous System Disease |
66 |
0.047 |
|
130 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.047 |
|
131 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.047 |
|
132 |
|
P
|
THY023 |
Thymoma |
65 |
0.047 |
|
133 |
|
c
|
ATS347 |
Autosomal Dominant Polycystic Kidney Disease |
65 |
0.047 |
|
134 |
|
P
|
HRM001 |
Hermansky-Pudlak Syndrome |
64 |
0.047 |
|
135 |
|
|
NRF007 |
Neurofibroma |
64 |
0.047 |
|
136 |
|
P
|
MST009 |
Mastocytosis |
64 |
0.047 |
|
137 |
|
P
|
GLM045 |
Glioma |
63 |
0.047 |
|
138 |
|
c
|
SYS004 |
Systemic Mastocytosis |
63 |
0.047 |
|
139 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
0.047 |
|
140 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.047 |
|
141 |
|
|
TXC005 |
Toxic Shock Syndrome |
62 |
0.047 |
|
142 |
|
|
DRM006 |
Dermatitis |
61 |
0.047 |
|
143 |
|
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
0.047 |
|
144 |
|
c
|
WLM018 |
Wilms Tumor 5 |
61 |
0.047 |
|
145 |
|
P
|
LPS004 |
Lupus Erythematosus |
61 |
0.047 |
|
146 |
|
P
|
KDN017 |
Kidney Cancer |
60 |
0.047 |
|
147 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.047 |
|
148 |
|
P
|
THL005 |
Thalassemia |
60 |
0.047 |
|
149 |
|
P
|
MYC008 |
Myocarditis |
59 |
0.047 |
|
150 |
|
c
|
ART138 |
Aortic Aneurysm, Familial Abdominal, 1 |
59 |
0.047 |
|
151 |
|
P
|
BND020 |
Bone Disease |
59 |
0.047 |
|
152 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.047 |
|
153 |
|
P
|
MLN069 |
Melanoma, Uveal |
59 |
0.047 |
|
154 |
|
|
GST045 |
Gastroenteritis |
59 |
0.047 |
|
155 |
|
|
ANR040 |
Aneurysm |
59 |
0.047 |
|
156 |
|
|
ISC004 |
Ischemia |
58 |
0.047 |
|
157 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.047 |
|
158 |
|
|
PMP006 |
Pemphigus Vulgaris, Familial |
57 |
0.047 |
|
159 |
|
|
THR024 |
Thrombosis |
57 |
0.047 |
|
160 |
|
|
SKN022 |
Skin Squamous Cell Carcinoma |
57 |
0.047 |
|
161 |
|
|
HYP266 |
Hypoxia |
57 |
0.047 |
|
162 |
|
P
|
PLY018 |
Polycythemia |
56 |
0.047 |
|
163 |
|
|
PTS001 |
Patau Syndrome |
55 |
0.047 |
|
164 |
|
|
MCL006 |
Macular Retinal Edema |
55 |
0.047 |
|
165 |
|
|
PRP030 |
Purpura |
54 |
0.047 |
|
166 |
|
P
|
PMP001 |
Pemphigus |
54 |
0.047 |
|
167 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
54 |
0.047 |
|
168 |
|
|
NNL006 |
Non-Alcoholic Steatohepatitis |
54 |
0.047 |
|
169 |
|
c
|
THR001 |
Thrombocytopenia Due to Platelet Alloimmunization |
53 |
0.047 |
|
170 |
|
P
|
PLM006 |
Pulmonary Alveolar Proteinosis |
53 |
0.047 |
|
171 |
|
|
GSG001 |
Gas Gangrene |
53 |
0.047 |
|
172 |
|
c
|
CNT035 |
Central Nervous System Disease |
52 |
0.047 |
|
173 |
|
P
|
RCT021 |
Rectum Cancer |
52 |
0.047 |
|
174 |
|
P
|
PRR016 |
Pierre Robin Syndrome |
52 |
0.047 |
|
175 |
|
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
52 |
0.047 |
|
176 |
|
c
|
THY107 |
Thymoma, Familial |
52 |
0.047 |
|
177 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.047 |
|
178 |
|
|
RTN003 |
Retinal Ischemia |
50 |
0.047 |
|
179 |
|
|
BRN071 |
Brain Injury |
49 |
0.047 |
|
180 |
|
|
SPL018 |
Splenomegaly |
48 |
0.047 |
|
181 |
|
|
GLC106 |
Glucocorticoid Resistance, Generalized |
48 |
0.047 |
|
182 |
|
|
RNL077 |
Renal Fibrosis |
47 |
0.047 |
|
183 |
|
|
EXS001 |
Exostosis |
46 |
0.047 |
|
184 |
|
|
MGC001 |
Megacolon |
46 |
0.047 |
|
185 |
|
|
GLL048 |
Glial Tumor |
45 |
0.047 |
|
186 |
|
|
URT010 |
Ureteral Obstruction |
45 |
0.047 |
|
187 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.047 |
|
188 |
|
|
PTT037 |
Pituitary Tumors |
44 |
0.047 |
|
189 |
|
|
GST027 |
Gastric Lymphoma |
44 |
0.047 |
|
190 |
|
|
THR051 |
Thrombocytopenia with Beta-Thalassemia, X-Linked |
44 |
0.047 |
|
191 |
|
c
|
HRM012 |
Hermansky-Pudlak Syndrome 9 |
43 |
0.047 |
|
192 |
|
|
SMN007 |
Seminoma |
43 |
0.047 |
|
193 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
0.047 |
|
194 |
|
|
CHR286 |
Chronic Neutrophilic Leukemia |
42 |
0.047 |
|
195 |
|
c
|
MCR112 |
Microvascular Complications of Diabetes 2 |
41 |
0.047 |
|
196 |
|
|
PLY100 |
Polyploidy |
40 |
0.047 |
|
197 |
|
P
|
TRC031 |
Trichorhinophalangeal Syndrome |
40 |
0.047 |
|
198 |
|
|
48X005 |
48,xyyy |
39 |
0.047 |
|
199 |
|
|
LNG105 |
Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome |
37 |
0.047 |
|
200 |
|
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
33 |
0.047 |
|
201 |
|
c
|
CHR064 |
Chronic Monocytic Leukemia |
33 |
0.047 |
|
202 |
|
|
BLD052 |
Blood Group Incompatibility |
32 |
0.047 |
|
203 |
|
|
ISL075 |
Isolated Pierre Robin Sequence |
29 |
0.047 |
|
204 |
|
|
BLY010 |
B-Lymphoblastic Leukemia/lymphoma with Iamp21 |
28 |
0.047 |
|
205 |
|
c
|
MNS008 |
Monosomy 21 |
26 |
0.047 |
|
206 |
|
c
|
BLD132 |
Bleeding Disorder, Platelet-Type, 21 |
22 |
0.047 |
|
207 |
|
|
ACT165 |
Acute Megakaryoblastic Leukemia Without Down Syndrome |
14 |
0.047 |
|
208 |
|
c
|
FML317 |
Familial Monosomy 7 Syndrome |
10 |
0.047 |
|
209 |
|
|
BLY004 |
B-Lymphoblastic Leukemia/lymphoma with Etv6-Runx1 |
7 |
0.047 |
|