# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
33 |
48.407 |
|
2 |
|
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
37 |
41.815 |
|
3 |
|
P
|
BRG001 |
Brugada Syndrome |
69 |
39.198 |
|
4 |
|
c
|
BRG012 |
Brugada Syndrome 9 |
30 |
36.017 |
|
5 |
|
P
|
LNG028 |
Long Qt Syndrome |
64 |
15.782 |
|
6 |
|
P
|
ATS308 |
Autosomal Dominant Cerebellar Ataxia |
64 |
15.659 |
|
7 |
|
P
|
NRP001 |
Neuropathy |
60 |
14.039 |
|
8 |
|
P
|
HRT032 |
Heart Disease |
81 |
12.659 |
|
9 |
|
c
|
HRD026 |
Hereditary Ataxia |
47 |
12.555 |
|
10 |
|
P
|
DYS154 |
Dystonia |
64 |
12.429 |
|
11 |
|
|
DRV001 |
Dravet Syndrome |
69 |
11.986 |
|
12 |
|
|
DSS008 |
Disease of Mental Health |
74 |
11.341 |
|
13 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
78 |
11.341 |
|
14 |
|
|
RGH001 |
Right Bundle Branch Block |
47 |
10.719 |
|
15 |
|
P
|
EPS003 |
Episodic Ataxia |
59 |
10.453 |
|
16 |
|
c
|
BRG005 |
Brugada Syndrome 1 |
54 |
9.752 |
|
17 |
|
c
|
SPN311 |
Spinocerebellar Ataxia 13 |
48 |
7.846 |
|
18 |
|
P
|
CTC001 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
63 |
7.580 |
|
19 |
|
c
|
EPS042 |
Episodic Ataxia, Type 1 |
58 |
6.938 |
|
20 |
|
c
|
BRG007 |
Brugada Syndrome 5 |
39 |
6.938 |
|
21 |
|
|
INT084 |
Intrinsic Cardiomyopathy |
27 |
6.938 |
|
22 |
|
c
|
FML001 |
Familial Atrial Fibrillation |
65 |
6.938 |
|
23 |
|
|
SNT005 |
Sinoatrial Node Disease |
47 |
6.938 |
|
24 |
|
c
|
LNG047 |
Long Qt Syndrome 2 |
59 |
6.938 |
|
25 |
|
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
6.938 |
|
26 |
|
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
33 |
6.938 |
|
27 |
|
c
|
LNG044 |
Long Qt Syndrome 1 |
66 |
6.938 |
|
28 |
|
|
DNT005 |
Dentatorubral-Pallidoluysian Atrophy |
60 |
6.938 |
|
29 |
|
c
|
CRB219 |
Cerebellar Ataxia Type 41 |
24 |
6.938 |
|
30 |
|
c
|
CRB217 |
Cerebellar Ataxia Type 42 |
23 |
6.938 |
|
31 |
|
c
|
CRB222 |
Cerebellar Ataxia Type 9 |
20 |
6.938 |
|
32 |
|
c
|
MYS051 |
Myasthenic Syndrome, Congenital, 5 |
53 |
6.938 |
|
33 |
|
P
|
CNG001 |
Congenital Myasthenic Syndrome |
68 |
6.938 |
|
34 |
|
|
HRT008 |
Heart Conduction Disease |
44 |
6.938 |
|
35 |
|
|
CRB027 |
Cerebellar Disease |
47 |
6.938 |
|
36 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
46 |
6.408 |
|
37 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
68 |
4.625 |
|
38 |
|
c
|
VNT034 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
67 |
4.003 |
|
39 |
|
|
CRD132 |
Cardiac Conduction Defect |
60 |
3.916 |
|
40 |
|
|
ERL052 |
Early Repolarization Associated with Ventricular Fibrillation |
22 |
3.504 |
|
41 |
|
P
|
EPL164 |
Epilepsy |
68 |
3.075 |
|
42 |
|
P
|
ATR011 |
Atrial Fibrillation |
66 |
2.861 |
|
43 |
|
|
SDD001 |
Sudden Infant Death Syndrome |
60 |
2.665 |
|
44 |
|
P
|
PRK039 |
Parkinsonism |
55 |
2.665 |
|
45 |
|
|
CRD223 |
Cardiac Arrhythmia |
63 |
2.555 |
|
46 |
|
|
SYN036 |
Syncope |
45 |
2.311 |
|
47 |
|
P
|
ENC018 |
Encephalopathy |
62 |
2.174 |
|
48 |
|
|
APR001 |
Apraxia |
52 |
2.023 |
|
49 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
64 |
2.023 |
|
50 |
|
P
|
MVM001 |
Movement Disease |
61 |
2.023 |
|
51 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
2.023 |
|
52 |
|
P
|
STR020 |
Strabismus |
56 |
1.851 |
|
53 |
|
|
MCH006 |
Mechanical Strabismus |
40 |
1.851 |
|
54 |
|
P
|
MYC033 |
Myoclonus |
47 |
1.851 |
|
55 |
|
P
|
CRB059 |
Cerebellar Degeneration |
36 |
1.851 |
|
56 |
|
P
|
CRD119 |
Cardiac Arrest |
67 |
1.573 |
|
57 |
|
P
|
SZR006 |
Seizure Disorder |
70 |
1.530 |
|
58 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
72 |
1.436 |
|
59 |
|
P
|
KRT007 |
Keratoconus |
50 |
1.284 |
|
60 |
|
|
MCR013 |
Microphthalmia |
60 |
1.284 |
|
61 |
|
P
|
ATS364 |
Autism |
69 |
1.112 |
|
62 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
1.112 |
|
63 |
|
c
|
BRG008 |
Brugada Syndrome 6 |
32 |
1.112 |
|
64 |
|
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
58 |
0.908 |
|
65 |
|
c
|
PRG042 |
Progressive Familial Heart Block, Type Ia |
66 |
0.908 |
|
66 |
|
|
NRL016 |
Neural Tube Defects |
81 |
0.908 |
|
67 |
|
c
|
PRG043 |
Progressive Familial Heart Block, Type Ib |
54 |
0.908 |
|
68 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
0.908 |
|
69 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.779 |
|
70 |
|
|
IRN008 |
Iron Overload in Africa |
51 |
0.727 |
|
71 |
|
c
|
CHL136 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
57 |
0.727 |
|
72 |
|
|
HPT079 |
Hepatoid Adenocarcinoma |
39 |
0.727 |
|
73 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
63 |
0.727 |
|
74 |
|
|
RJS001 |
Ruijs-Aalfs Syndrome |
47 |
0.727 |
|
75 |
|
c
|
HPT073 |
Hepatitis C Virus |
71 |
0.727 |
|
76 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
0.727 |
|
77 |
|
|
PDT042 |
Pediatric Hepatocellular Carcinoma |
49 |
0.727 |
|
78 |
|
c
|
PRG047 |
Progressive Familial Intrahepatic Cholestasis |
64 |
0.727 |
|
79 |
|
|
ADL096 |
Adult Hepatocellular Carcinoma |
60 |
0.727 |
|
80 |
|
|
FBR086 |
Fibrolamellar Carcinoma |
59 |
0.727 |
|
81 |
|
|
HPT011 |
Hepatocellular Clear Cell Carcinoma |
46 |
0.727 |
|
82 |
|
|
PTY007 |
Pityriasis Rotunda |
26 |
0.727 |
|
83 |
|
c
|
FML294 |
Familial Short Qt Syndrome |
43 |
0.642 |
|
84 |
|
|
OCL015 |
Oculomotor Apraxia |
39 |
0.642 |
|
85 |
|
c
|
MYT021 |
Myotonic Dystrophy 1 |
68 |
0.642 |
|
86 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
64 |
0.642 |
|
87 |
|
|
AGN018 |
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome |
57 |
0.642 |
|
88 |
|
c
|
SHR030 |
Short Qt Syndrome |
44 |
0.642 |
|
89 |
|
|
ATR057 |
Atrioventricular Block |
54 |
0.642 |
|
90 |
|
c
|
BRG010 |
Brugada Syndrome 8 |
25 |
0.642 |
|
91 |
|
c
|
SPN309 |
Spinocerebellar Ataxia 6 |
58 |
0.642 |
|
92 |
|
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
46 |
0.642 |
|
93 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.642 |
|
94 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
0.642 |
|
95 |
|
c
|
BRG004 |
Brugada Syndrome 4 |
45 |
0.642 |
|
96 |
|
c
|
VNT010 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
46 |
0.642 |
|
97 |
|
c
|
SPN308 |
Spinocerebellar Ataxia 28 |
48 |
0.642 |
|
98 |
|
c
|
NTR047 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
37 |
0.642 |
|
99 |
|
c
|
ATR026 |
Atrial Fibrillation, Familial, 1 |
21 |
0.642 |
|
100 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
0.642 |
|
101 |
|
P
|
SPS008 |
Spastic Ataxia |
41 |
0.642 |
|
102 |
|
|
OCC016 |
Occupational Asthma |
33 |
0.642 |
|
103 |
|
|
MNT002 |
Mental Depression |
57 |
0.642 |
|
104 |
|
|
PRP016 |
Paraplegia |
52 |
0.642 |
|
105 |
|
c
|
FTL070 |
Fetal Akinesia Deformation Sequence 2 |
36 |
0.642 |
|
106 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.642 |
|
107 |
|
|
BRN002 |
Bronchiolitis |
57 |
0.642 |
|
108 |
|
P
|
SCK002 |
Sick Sinus Syndrome |
55 |
0.642 |
|
109 |
|
|
CRN009 |
Corneal Ectasia |
29 |
0.642 |
|
110 |
|
P
|
MYT002 |
Myotonic Dystrophy |
51 |
0.642 |
|
111 |
|
|
SYN095 |
Syne1 Deficiency |
9 |
0.642 |
|
112 |
|
|
DPR016 |
Depression |
65 |
0.642 |
|
113 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.551 |
|
114 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
0.551 |
|
115 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.551 |
|