# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
KBK003 |
Kabuki Syndrome 2 |
31 |
5.348 |
|
2 |
|
P
|
KBK002 |
Kabuki Syndrome 1 |
67 |
4.284 |
|
3 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
3.329 |
|
4 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
2.789 |
|
5 |
|
P
|
TRN020 |
Turner Syndrome |
67 |
2.789 |
|
6 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
66 |
2.756 |
|
7 |
|
|
OTT002 |
Otitis Media |
72 |
2.718 |
|
8 |
|
P
|
SCL018 |
Scoliosis |
60 |
2.718 |
|
9 |
|
|
TCL027 |
T-Cell Acute Lymphoblastic Leukemia |
51 |
2.718 |
|
10 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
2.042 |
|
11 |
|
|
CHR103 |
Charge Syndrome |
67 |
2.010 |
|
12 |
|
|
BLD131 |
Bladder Urothelial Carcinoma |
62 |
1.972 |
|
13 |
|
|
RNL065 |
Renal Cell Carcinoma, Papillary, 1 |
73 |
1.922 |
|
14 |
|
|
CHR593 |
Chromosome 16p13.3 Deletion Syndrome, Proximal |
66 |
1.922 |
|
15 |
|
P
|
STS008 |
Sotos Syndrome 1 |
61 |
1.922 |
|
16 |
|
|
WVR001 |
Weaver Syndrome |
59 |
1.922 |
|
17 |
|
P
|
BRN035 |
Brain Stem Glioma |
52 |
1.922 |
|
18 |
|
P
|
KLF001 |
Kleefstra Syndrome |
47 |
1.922 |
|
19 |
|
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
36 |
1.922 |
|
20 |
|
|
ADH001 |
Adhesions of Uterus |
36 |
1.922 |
|
21 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.170 |
|
22 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.135 |
|
23 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.120 |
|
24 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.104 |
|
25 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.104 |
|
26 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
78 |
0.085 |
|
27 |
|
P
|
ATS364 |
Autism |
70 |
0.085 |
|
28 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.085 |
|
29 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.085 |
|
30 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.085 |
|
31 |
|
P
|
GND004 |
Gonadal Dysgenesis |
48 |
0.085 |
|
32 |
|
P
|
BNG032 |
Benign Mesothelioma |
46 |
0.085 |
|
33 |
|
|
ESP021 |
Esophageal Cancer |
90 |
0.060 |
|
34 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.060 |
|
35 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.060 |
|
36 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.060 |
|
37 |
|
|
END057 |
Endometrial Cancer |
74 |
0.060 |
|
38 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.060 |
|
39 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.060 |
|
40 |
|
P
|
ALG028 |
Alagille Syndrome 1 |
73 |
0.060 |
|
41 |
|
|
MSC157 |
Muscular Dystrophy, Duchenne Type |
72 |
0.060 |
|
42 |
|
P
|
MLN008 |
Melanoma |
69 |
0.060 |
|
43 |
|
|
ODN023 |
Odontochondrodysplasia |
68 |
0.060 |
|
44 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.060 |
|
45 |
|
|
CHL065 |
Cholangiocarcinoma |
68 |
0.060 |
|
46 |
|
P
|
LKM002 |
Leukemia |
68 |
0.060 |
|
47 |
|
|
SKN019 |
Skin Melanoma |
68 |
0.060 |
|
48 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
68 |
0.060 |
|
49 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
66 |
0.060 |
|
50 |
|
P
|
MSC005 |
Muscular Dystrophy |
66 |
0.060 |
|
51 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.060 |
|
52 |
|
P
|
HYD006 |
Hydrocephalus |
66 |
0.060 |
|
53 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
0.060 |
|
54 |
|
|
HMT002 |
Hematologic Cancer |
62 |
0.060 |
|
55 |
|
|
SPP011 |
Suppression of Tumorigenicity 12 |
59 |
0.060 |
|
56 |
|
P
|
MCR010 |
Microcephaly |
59 |
0.060 |
|
57 |
|
|
THY029 |
Thyroid Carcinoma |
59 |
0.060 |
|
58 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.060 |
|
59 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.060 |
|
60 |
|
|
CRV038 |
Cervical Squamous Cell Carcinoma |
58 |
0.060 |
|
61 |
|
|
HYP266 |
Hypoxia |
57 |
0.060 |
|
62 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.060 |
|
63 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
55 |
0.060 |
|
64 |
|
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
55 |
0.060 |
|
65 |
|
|
HYP060 |
Hyperinsulinism |
54 |
0.060 |
|
66 |
|
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
53 |
0.060 |
|
67 |
|
P
|
FBR031 |
Febrile Seizures |
53 |
0.060 |
|
68 |
|
c
|
FML008 |
Familial Retinoblastoma |
53 |
0.060 |
|
69 |
|
c
|
HYP326 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
53 |
0.060 |
|
70 |
|
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
0.060 |
|
71 |
|
|
LBS001 |
Lubs X-Linked Mental Retardation Syndrome |
51 |
0.060 |
|
72 |
|
|
INT079 |
Intrahepatic Cholangiocarcinoma |
51 |
0.060 |
|
73 |
|
P
|
HYP077 |
Hypertrichosis |
50 |
0.060 |
|
74 |
|
c
|
HYP271 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
50 |
0.060 |
|
75 |
|
|
BLR001 |
Biliary Atresia |
50 |
0.060 |
|
76 |
|
|
BKR002 |
Baker-Gordon Syndrome |
49 |
0.060 |
|
77 |
|
|
LRN003 |
Learning Disability |
49 |
0.060 |
|
78 |
|
c
|
CNG216 |
Congenital Hydrocephalus |
47 |
0.060 |
|
79 |
|
|
BRN032 |
Brain Glioma |
45 |
0.060 |
|
80 |
|
P
|
ECT005 |
Ectropion |
42 |
0.060 |
|
81 |
|
c
|
MLG079 |
Malignant Pleural Mesothelioma |
42 |
0.060 |
|
82 |
|
|
ISL151 |
Isolated Elevated Serum Creatine Phosphokinase Levels |
40 |
0.060 |
|
83 |
|
|
HTR014 |
Heterotaxy, Visceral, 1, X-Linked |
40 |
0.060 |
|
84 |
|
|
CRT045 |
Creatine Phosphokinase, Elevated Serum |
39 |
0.060 |
|
85 |
|
|
ALL014 |
Allergic Encephalomyelitis |
38 |
0.060 |
|
86 |
|
|
END075 |
Endocervical Adenocarcinoma |
37 |
0.060 |
|
87 |
|
|
UTR056 |
Uterine Corpus Endometrial Carcinoma |
27 |
0.060 |
|
88 |
|
|
GNT046 |
Genetic Epilepsy with Febrile Seizures Plus |
27 |
0.060 |
|