# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
DFN325 |
Deafness, Autosomal Recessive 108 |
16 |
37.556 |
|
2 |
|
P
|
BRS047 |
Breast Cancer |
98 |
27.827 |
|
3 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
75 |
27.237 |
|
4 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
25.837 |
|
5 |
|
|
MNT001 |
Mantle Cell Lymphoma |
67 |
21.890 |
|
6 |
|
P
|
LKM002 |
Leukemia |
67 |
12.595 |
|
7 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
9.864 |
|
8 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
9.745 |
|
9 |
|
|
ATS252 |
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
41 |
9.001 |
|
10 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
8.797 |
|
11 |
|
P
|
LYM118 |
Lymphoma |
67 |
7.903 |
|
12 |
|
P
|
BCL017 |
B-Cell Lymphoma |
59 |
6.902 |
|
13 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
6.024 |
|
14 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
54 |
5.310 |
|
15 |
|
|
END057 |
Endometrial Cancer |
72 |
4.873 |
|
16 |
|
P
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
52 |
4.854 |
|
17 |
|
P
|
FLL037 |
Follicular Lymphoma |
74 |
4.852 |
|
18 |
|
P
|
LNG032 |
Lung Cancer |
98 |
4.802 |
|
19 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
4.544 |
|
20 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
4.518 |
|
21 |
|
P
|
MLN008 |
Melanoma |
76 |
4.407 |
|
22 |
|
P
|
BRS044 |
Breast Adenocarcinoma |
58 |
3.921 |
|
23 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
3.855 |
|
24 |
|
P
|
GST053 |
Gastric Cancer |
83 |
3.789 |
|
25 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
3.776 |
|
26 |
|
|
RCH001 |
Richter's Syndrome |
45 |
3.716 |
|
27 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
3.610 |
|
28 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
39 |
3.569 |
|
29 |
|
|
CRV035 |
Cervical Cancer |
73 |
3.433 |
|
30 |
|
P
|
KDN017 |
Kidney Cancer |
61 |
3.358 |
|
31 |
|
|
MRG003 |
Marginal Zone B-Cell Lymphoma |
52 |
3.281 |
|
32 |
|
P
|
BRC006 |
Brachydactyly |
51 |
3.281 |
|
33 |
|
|
TCL008 |
T-Cell Lymphoma 1a |
17 |
3.230 |
|
34 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
72 |
3.202 |
|
35 |
|
|
GST040 |
Gastric Adenocarcinoma |
67 |
3.158 |
|
36 |
|
P
|
RBN002 |
Robinow Syndrome |
51 |
3.120 |
|
37 |
|
|
EWN003 |
Ewing Sarcoma |
70 |
3.034 |
|
38 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
46 |
2.927 |
|
39 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
2.927 |
|
40 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
61 |
2.852 |
|
41 |
|
|
GLB002 |
Glioblastoma |
67 |
2.852 |
|
42 |
|
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
60 |
2.759 |
|
43 |
|
|
GLL048 |
Glial Tumor |
52 |
2.759 |
|
44 |
|
|
GLM045 |
Glioma |
63 |
2.759 |
|
45 |
|
c
|
BRC051 |
Brachydactyly, Type B1 |
50 |
2.753 |
|
46 |
|
P
|
CHN012 |
Chondrosarcoma |
57 |
2.670 |
|
47 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
2.670 |
|
48 |
|
P
|
LRY044 |
Larynx Cancer |
54 |
2.576 |
|
49 |
|
|
ADN020 |
Adenosarcoma |
42 |
2.576 |
|
50 |
|
P
|
BNG032 |
Benign Mesothelioma |
53 |
2.478 |
|
51 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
2.375 |
|
52 |
|
|
ERM002 |
Ear Malformation |
36 |
2.375 |
|
53 |
|
|
HRY003 |
Hairy Cell Leukemia |
61 |
2.375 |
|
54 |
|
P
|
ADT009 |
Auditory Neuropathy Spectrum Disorder |
34 |
2.375 |
|
55 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
74 |
2.264 |
|
56 |
|
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
53 |
2.264 |
|
57 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
2.264 |
|
58 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
2.264 |
|
59 |
|
|
LCL004 |
Localized Osteosarcoma |
34 |
2.264 |
|
60 |
|
c
|
RR2001 |
Ror2-Related Robinow Syndrome |
13 |
2.145 |
|
61 |
|
c
|
MST023 |
Mesothelioma, Malignant |
56 |
2.016 |
|
62 |
|
|
LYM143 |
Lymphoma, Non-Hodgkin, Familial |
75 |
2.016 |
|
63 |
|
|
TRT001 |
Teratocarcinoma |
42 |
2.016 |
|
64 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
2.016 |
|
65 |
|
c
|
PRC016 |
Pre-Eclampsia |
65 |
2.005 |
|
66 |
|
|
HYP266 |
Hypoxia |
57 |
1.712 |
|
67 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
68 |
1.565 |
|
68 |
|
|
LYM019 |
Lymphosarcoma |
46 |
1.379 |
|
69 |
|
c
|
PRM038 |
Primary Agammaglobulinemia |
47 |
1.379 |
|
70 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
1.352 |
|
71 |
|
P
|
VNT002 |
Ventricular Septal Defect |
58 |
1.352 |
|
72 |
|
|
MLG079 |
Malignant Pleural Mesothelioma |
42 |
1.209 |
|
73 |
|
c
|
LKM056 |
Leukemia, Chronic Lymphocytic 2 |
48 |
1.195 |
|
74 |
|
|
PPL061 |
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome |
26 |
1.195 |
|
75 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
1.157 |
|
76 |
|
|
ESP021 |
Esophageal Cancer |
83 |
1.057 |
|
77 |
|
P
|
VTR007 |
Vitreoretinopathy |
46 |
1.047 |
|
78 |
|
|
BRK010 |
Burkitt Lymphoma |
66 |
1.047 |
|
79 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
1.047 |
|
80 |
|
P
|
EXD001 |
Exudative Vitreoretinopathy |
56 |
1.047 |
|
81 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
1.047 |
|
82 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
1.047 |
|
83 |
|
P
|
BND020 |
Bone Disease |
59 |
1.047 |
|
84 |
|
P
|
SCL048 |
Sclerosteosis |
58 |
1.047 |
|
85 |
|
c
|
ATS398 |
Autosomal Recessive Nonsyndromic Deafness 108 |
5 |
0.980 |
|
86 |
|
|
LYM040 |
Lymphoblastic Lymphoma |
53 |
0.975 |
|
|
88 |
|
|
END043 |
Endometrial Stromal Tumor |
34 |
0.855 |
|
89 |
|
P
|
END044 |
Endometriosis |
62 |
0.855 |
|
90 |
|
|
CYT002 |
Cytokine Deficiency |
43 |
0.855 |
|
91 |
|
|
GST103 |
Gastric Cancer, Hereditary Diffuse |
68 |
0.783 |
|
92 |
|
|
SML009 |
Small Intestine Adenocarcinoma |
57 |
0.783 |
|
93 |
|
|
DWN001 |
Down Syndrome |
70 |
0.690 |
|
94 |
|
|
AND005 |
Androgen Insensitivity Syndrome, Mild |
21 |
0.690 |
|
95 |
|
|
SML031 |
Small Cell Carcinoma of the Bladder |
46 |
0.639 |
|
96 |
|
P
|
TMR010 |
Tumor Predisposition Syndrome |
67 |
0.639 |
|
97 |
|
|
LNG111 |
Lung Non-Squamous Non-Small Cell Carcinoma |
56 |
0.639 |
|
98 |
|
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
60 |
0.639 |
|
99 |
|
c
|
CLR087 |
Colorectal Cancer 12 |
34 |
0.639 |
|
100 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
68 |
0.639 |
|
101 |
|
P
|
LNG021 |
Lung Occult Small Cell Carcinoma |
20 |
0.639 |
|
102 |
|
|
LNG019 |
Lung Combined Type Small Cell Carcinoma |
32 |
0.639 |
|
103 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
0.639 |
|
104 |
|
|
ADN089 |
Adenosquamous Lung Carcinoma |
49 |
0.639 |
|
105 |
|
|
BRN015 |
Bronchiolo-Alveolar Adenocarcinoma |
55 |
0.639 |
|
106 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
76 |
0.605 |
|
107 |
|
P
|
MYM013 |
Moyamoya Disease 1 |
59 |
0.605 |
|
108 |
|
|
SQM013 |
Squamous Cell Carcinoma, Head and Neck |
73 |
0.605 |
|
109 |
|
P
|
MLN069 |
Melanoma, Uveal |
61 |
0.605 |
|
110 |
|
|
OMP009 |
Omphalocele, Autosomal |
22 |
0.605 |
|
111 |
|
|
MYL009 |
Myelodysplastic Syndrome |
67 |
0.605 |
|
112 |
|
|
CLT003 |
Colitis |
63 |
0.605 |
|
113 |
|
P
|
OMP004 |
Omphalocele |
48 |
0.605 |
|
114 |
|
P
|
DXT004 |
Dextro-Looped Transposition of the Great Arteries |
58 |
0.605 |
|
115 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
65 |
0.605 |
|
116 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
0.605 |
|
117 |
|
P
|
STR020 |
Strabismus |
56 |
0.605 |
|
118 |
|
|
PLM129 |
Pulmonary Disease, Chronic Obstructive |
74 |
0.605 |
|
119 |
|
|
DSS032 |
Disease by Infectious Agent |
55 |
0.605 |
|
120 |
|
|
CLR109 |
Colorectal Adenocarcinoma |
50 |
0.605 |
|
121 |
|
|
TNG009 |
Tongue Squamous Cell Carcinoma |
43 |
0.605 |
|
122 |
|
|
TNG007 |
Tongue Carcinoma |
52 |
0.605 |
|
123 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
46 |
0.605 |
|
124 |
|
|
MCH006 |
Mechanical Strabismus |
40 |
0.605 |
|
125 |
|
|
ULC004 |
Ulcerative Colitis |
74 |
0.605 |
|
126 |
|
P
|
MYL006 |
Myeloid Leukemia |
61 |
0.605 |
|
127 |
|
P
|
RRL003 |
Rare Lymphatic Malformation |
31 |
0.605 |
|
128 |
|
|
LYM022 |
Lymphangioma |
54 |
0.605 |
|
129 |
|
|
SKN022 |
Skin Squamous Cell Carcinoma |
54 |
0.605 |
|
130 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
66 |
0.605 |
|
131 |
|
|
LNG099 |
Lung Disease |
62 |
0.605 |
|
132 |
|
|
CRT013 |
Carotid Stenosis |
51 |
0.605 |
|
133 |
|
P
|
PLY011 |
Polycystic Ovary Syndrome |
57 |
0.605 |
|
134 |
|
|
TCL027 |
T-Cell Acute Lymphoblastic Leukemia |
51 |
0.605 |
|
135 |
|
P
|
ART005 |
Arteriovenous Malformation |
65 |
0.605 |
|
136 |
|
P
|
ENC004 |
Encephalitis |
61 |
0.605 |
|
137 |
|
|
BRN056 |
Bronchopulmonary Dysplasia |
56 |
0.605 |
|
138 |
|
|
OVR011 |
Ovarian Mucinous Adenocarcinoma |
34 |
0.554 |
|
139 |
|
c
|
NRB010 |
Neuroblastoma 1 |
59 |
0.470 |
|
140 |
|
|
IRN008 |
Iron Overload in Africa |
51 |
0.452 |
|
141 |
|
c
|
CHL136 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
57 |
0.452 |
|
142 |
|
|
HPT079 |
Hepatoid Adenocarcinoma |
39 |
0.452 |
|
143 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
63 |
0.452 |
|
144 |
|
|
RJS001 |
Ruijs-Aalfs Syndrome |
47 |
0.452 |
|
145 |
|
c
|
HPT073 |
Hepatitis C Virus |
71 |
0.452 |
|
146 |
|
|
RHB011 |
Rhabdoid Tumor Predisposition Syndrome 2 |
28 |
0.452 |
|
147 |
|
P
|
MDL005 |
Medulloblastoma |
75 |
0.452 |
|
148 |
|
|
PDT042 |
Pediatric Hepatocellular Carcinoma |
49 |
0.452 |
|
149 |
|
c
|
PRG047 |
Progressive Familial Intrahepatic Cholestasis |
64 |
0.452 |
|
150 |
|
|
ADL096 |
Adult Hepatocellular Carcinoma |
60 |
0.452 |
|
151 |
|
|
FBR086 |
Fibrolamellar Carcinoma |
59 |
0.452 |
|
152 |
|
|
HPT011 |
Hepatocellular Clear Cell Carcinoma |
46 |
0.452 |
|
153 |
|
|
BRS099 |
Breast Ductal Carcinoma |
61 |
0.452 |
|
154 |
|
|
PTY007 |
Pityriasis Rotunda |
26 |
0.452 |
|