# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
NML006 |
Nemaline Myopathy 5 |
41 |
63.596 |
|
2 |
|
P
|
MYP004 |
Myopathy |
67 |
27.854 |
|
3 |
|
P
|
NML001 |
Nemaline Myopathy |
48 |
27.386 |
|
4 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
78 |
14.611 |
|
5 |
|
P
|
RST002 |
Restrictive Cardiomyopathy |
54 |
14.025 |
|
6 |
|
P
|
HYP061 |
Hypertrophic Cardiomyopathy |
69 |
14.025 |
|
7 |
|
|
LPP008 |
Lipoprotein Quantitative Trait Locus |
65 |
12.710 |
|
8 |
|
|
PCT001 |
Pectus Carinatum |
33 |
10.477 |
|
9 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
10.271 |
|
10 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
10.271 |
|
11 |
|
|
TTH006 |
Tooth Disease |
51 |
10.271 |
|
12 |
|
|
PLM033 |
Pulmonary Embolism |
58 |
10.271 |
|
13 |
|
|
CNG046 |
Congenital Fiber-Type Disproportion |
53 |
8.357 |
|
14 |
|
P
|
DST002 |
Distal Arthrogryposis |
65 |
8.156 |
|
15 |
|
P
|
PRM011 |
Primary Ciliary Dyskinesia |
69 |
7.263 |
|
16 |
|
|
NSY001 |
N Syndrome |
30 |
7.263 |
|
17 |
|
|
CMP012 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
44 |
7.263 |
|
18 |
|
P
|
PRM001 |
Primary Cutaneous Amyloidosis |
47 |
7.263 |
|
19 |
|
|
WLF001 |
Wolff-Parkinson-White Syndrome |
65 |
7.263 |
|
20 |
|
c
|
CRD086 |
Cardiomyopathy, Familial Hypertrophic, 1 |
69 |
7.263 |
|
21 |
|
|
INT007 |
Intermediate Coronary Syndrome |
54 |
7.263 |
|
22 |
|
|
GSG001 |
Gas Gangrene |
52 |
7.263 |
|
23 |
|
|
CNG032 |
Congenital Structural Myopathy |
25 |
7.263 |
|
24 |
|
|
LFT001 |
Left Bundle Branch Hemiblock |
47 |
7.263 |
|
25 |
|
|
HRT008 |
Heart Conduction Disease |
44 |
7.263 |
|
26 |
|
P
|
HYP265 |
Hypotonia |
42 |
5.176 |
|
27 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
4.009 |
|
28 |
|
P
|
TRM003 |
Tremor |
48 |
3.765 |
|
29 |
|
|
LNG099 |
Lung Disease |
62 |
3.532 |
|
30 |
|
|
BTT016 |
Batten-Turner Congenital Myopathy |
53 |
3.449 |
|
31 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
3.045 |
|
32 |
|
c
|
HYP836 |
Hypercholesterolemia, Familial, 1 |
73 |
2.862 |
|
33 |
|
c
|
FML021 |
Familial Hypercholesterolemia |
72 |
2.862 |
|
34 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
2.765 |
|
35 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
2.662 |
|
36 |
|
|
ART140 |
Arteries, Anomalies of |
53 |
2.439 |
|
37 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
2.315 |
|
38 |
|
|
ENC067 |
Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis |
50 |
2.315 |
|
39 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
66 |
2.240 |
|
40 |
|
c
|
PRG106 |
Progressive Muscular Dystrophy |
32 |
2.180 |
|
41 |
|
P
|
MYT002 |
Myotonic Dystrophy |
51 |
2.180 |
|
42 |
|
c
|
ATR087 |
Atrial Standstill 1 |
74 |
2.031 |
|
43 |
|
c
|
CRD232 |
Cardiomyopathy, Familial Hypertrophic, 6 |
37 |
1.445 |
|
44 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
1.412 |
|
45 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
1.412 |
|
46 |
|
P
|
STR020 |
Strabismus |
56 |
1.412 |
|
47 |
|
|
MCH006 |
Mechanical Strabismus |
40 |
1.412 |
|
48 |
|
|
EXP004 |
Exophthalmos |
51 |
1.412 |
|
49 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
1.412 |
|
50 |
|
|
SPN035 |
Spindle Cell Sarcoma |
54 |
1.263 |
|
51 |
|
|
SRC014 |
Sarcoma |
65 |
1.263 |
|
52 |
|
|
LPD008 |
Lipid Metabolism Disorder |
62 |
1.263 |
|
53 |
|
|
CPM001 |
Cap Myopathy |
44 |
1.263 |
|
54 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
1.182 |
|
55 |
|
|
CNG506 |
Congenital Amyoplasia |
27 |
1.094 |
|
56 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
1.094 |
|
57 |
|
|
INT109 |
Intranuclear Rod Myopathy |
12 |
1.094 |
|
58 |
|
c
|
CNG579 |
Congenital Nemaline Myopathy |
18 |
0.893 |
|
59 |
|
P
|
RRT020 |
Rare Tumor |
39 |
0.893 |
|
60 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.893 |
|
61 |
|
|
CLB019 |
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly |
43 |
0.893 |
|
62 |
|
P
|
VNT002 |
Ventricular Septal Defect |
58 |
0.893 |
|
63 |
|
|
HRT011 |
Heart Septal Defect |
49 |
0.893 |
|
64 |
|
|
BLD044 |
Bladder Disease |
48 |
0.893 |
|
|
66 |
|
P
|
GLL018 |
Gallbladder Cancer |
53 |
0.893 |
|
67 |
|
|
UTR043 |
Uterine Sarcoma |
40 |
0.893 |
|
68 |
|
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
37 |
0.631 |
|
69 |
|
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
61 |
0.631 |
|
70 |
|
|
CRD223 |
Cardiac Arrhythmia |
63 |
0.631 |
|
71 |
|
|
CHR222 |
Chromosome 1p36 Deletion Syndrome |
45 |
0.631 |
|
72 |
|
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
34 |
0.631 |
|
73 |
|
|
PRX015 |
Paroxysmal Extreme Pain Disorder |
56 |
0.631 |
|
74 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
0.631 |
|
75 |
|
P
|
MLT020 |
Multiple Sclerosis |
79 |
0.631 |
|
76 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
80 |
0.631 |
|
77 |
|
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
0.631 |
|
78 |
|
|
CNT105 |
Central Core Disease of Muscle |
59 |
0.631 |
|
79 |
|
c
|
NML007 |
Nemaline Myopathy 6 |
30 |
0.631 |
|
80 |
|
|
MYP091 |
Myopathy, Congenital, with Fiber-Type Disproportion |
43 |
0.631 |
|
81 |
|
|
MNC011 |
Minicore Myopathy with External Ophthalmoplegia |
37 |
0.631 |
|
82 |
|
c
|
NML003 |
Nemaline Myopathy 2 |
51 |
0.631 |
|
83 |
|
P
|
SCL018 |
Scoliosis |
57 |
0.631 |
|
84 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.631 |
|
85 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
0.631 |
|
86 |
|
P
|
MLG056 |
Malignant Hyperthermia |
66 |
0.631 |
|
87 |
|
|
GLL048 |
Glial Tumor |
52 |
0.631 |
|
88 |
|
|
47X002 |
47,xyy |
48 |
0.631 |
|
89 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
65 |
0.631 |
|
90 |
|
P
|
CNT004 |
Centronuclear Myopathy |
57 |
0.631 |
|
91 |
|
|
RCK004 |
Rickets |
68 |
0.631 |
|
92 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
0.631 |
|
93 |
|
|
OLG003 |
Oligohydramnios |
51 |
0.631 |
|
94 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
63 |
0.631 |
|
95 |
|
P
|
ATR010 |
Atrial Heart Septal Defect |
58 |
0.631 |
|
96 |
|
P
|
CRD119 |
Cardiac Arrest |
67 |
0.631 |
|
97 |
|
P
|
MYS079 |
Miyoshi Muscular Dystrophy |
54 |
0.631 |
|
98 |
|
|
MST005 |
Mastitis |
53 |
0.631 |
|
99 |
|
|
END085 |
Endometrial Serous Adenocarcinoma |
43 |
0.631 |
|
100 |
|
|
SRS001 |
Serous Cystadenocarcinoma |
52 |
0.631 |
|
101 |
|
P
|
LMY004 |
Leiomyosarcoma |
62 |
0.631 |
|
102 |
|
|
TYP026 |
Typical Congenital Nemaline Myopathy |
35 |
0.631 |
|
103 |
|
|
CHL107 |
Childhood-Onset Nemaline Myopathy |
40 |
0.631 |
|
104 |
|
|
EMB007 |
Embryonal Sarcoma |
40 |
0.631 |
|
105 |
|
|
GLM045 |
Glioma |
63 |
0.631 |
|
106 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.551 |
|
107 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.551 |
|
108 |
|
|
CLL010 |
Cellular Ependymoma |
57 |
0.551 |
|
109 |
|
c
|
WLM018 |
Wilms Tumor 5 |
53 |
0.470 |
|