# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
CTR098 |
Cataract 1, Multiple Types |
46 |
5.870 |
|
2 |
|
P
|
CTR002 |
Cataract |
60 |
4.913 |
|
3 |
|
|
CTR014 |
Cataract Microcornea Syndrome |
26 |
3.204 |
|
4 |
|
|
MCR013 |
Microphthalmia |
57 |
2.681 |
|
5 |
|
|
1Q2003 |
1q21.1 Recurrent Microdeletion |
23 |
2.681 |
|
6 |
|
|
EYD002 |
Eye Disease |
58 |
2.549 |
|
7 |
|
P
|
SCL047 |
Sclerocornea |
32 |
2.515 |
|
8 |
|
c
|
ART115 |
Aortic Valve Disease 1 |
75 |
2.431 |
|
9 |
|
P
|
CNG024 |
Congenital Nystagmus |
36 |
2.431 |
|
10 |
|
c
|
CTR130 |
Cataract 9, Multiple Types |
39 |
1.824 |
|
11 |
|
P
|
LNS003 |
Lens Disease |
34 |
1.824 |
|
12 |
|
c
|
CTR170 |
Cataract 30, Multiple Types |
35 |
1.778 |
|
13 |
|
c
|
CTR145 |
Cataract 44 |
34 |
1.778 |
|
14 |
|
P
|
ERL043 |
Early-Onset Nuclear Cataract |
23 |
1.778 |
|
15 |
|
|
ERL040 |
Early-Onset Sutural Cataract |
16 |
1.778 |
|
16 |
|
c
|
SCL053 |
Sclerocornea, Autosomal Dominant |
12 |
1.778 |
|
17 |
|
P
|
OCL013 |
Oculodentodigital Dysplasia |
69 |
1.719 |
|
18 |
|
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
65 |
1.719 |
|
19 |
|
P
|
EPL140 |
Epilepsy, Idiopathic Generalized |
62 |
1.719 |
|
20 |
|
P
|
EPL198 |
Epilepsy, Myoclonic Juvenile |
62 |
1.719 |
|
21 |
|
P
|
CHL002 |
Childhood Absence Epilepsy |
61 |
1.719 |
|
22 |
|
|
BNG009 |
Benign Epilepsy with Centrotemporal Spikes |
58 |
1.719 |
|
23 |
|
P
|
ERY053 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
57 |
1.719 |
|
24 |
|
P
|
JVN007 |
Juvenile Absence Epilepsy |
47 |
1.719 |
|
25 |
|
c
|
CTR118 |
Cataract 14, Multiple Types |
41 |
1.719 |
|
26 |
|
|
EPL001 |
Epilepsy with Generalized Tonic-Clonic Seizures |
40 |
1.719 |
|
27 |
|
|
PHT008 |
Photosensitive Epilepsy |
39 |
1.719 |
|
28 |
|
c
|
CHR064 |
Chronic Monocytic Leukemia |
33 |
1.719 |
|
29 |
|
c
|
EPL098 |
Epilepsy, Idiopathic Generalized 12 |
31 |
1.719 |
|
30 |
|
P
|
ELC007 |
Electroclinical Syndrome |
30 |
1.719 |
|
31 |
|
c
|
ERL003 |
Early Onset Absence Epilepsy |
28 |
1.719 |
|
32 |
|
c
|
HRD100 |
Hereditary Lymphedema Ic |
24 |
1.719 |
|
33 |
|
|
CHL058 |
Childhood Electroclinical Syndrome |
24 |
1.719 |
|
34 |
|
|
ADL051 |
Adolescence-Adult Electroclinical Syndrome |
24 |
1.719 |
|
35 |
|
|
NNS006 |
Non-Suppurative Otitis Media |
19 |
1.719 |
|
36 |
|
|
FLY001 |
Flying Phobia |
17 |
1.719 |
|
37 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.176 |
|
38 |
|
|
CHR583 |
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb |
40 |
0.160 |
|
39 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.143 |
|
40 |
|
|
CHR225 |
Chromosome 1q21.1 Duplication Syndrome |
33 |
0.143 |
|
41 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
0.101 |
|
42 |
|
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
0.101 |
|
43 |
|
|
CLB010 |
Coloboma of Macula |
52 |
0.101 |
|
44 |
|
P
|
3MT016 |
3-Methylglutaconic Aciduria, Type Iii |
67 |
0.072 |
|
45 |
|
|
PTR032 |
Peters-Plus Syndrome |
63 |
0.072 |
|
46 |
|
P
|
MYP006 |
Myopia |
55 |
0.072 |
|
47 |
|
|
BKR002 |
Baker-Gordon Syndrome |
49 |
0.072 |
|
48 |
|
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
45 |
0.072 |
|
49 |
|
c
|
CTR103 |
Cataract 4, Multiple Types |
45 |
0.072 |
|
50 |
|
|
SNL007 |
Senile Cataract |
42 |
0.072 |
|
51 |
|
|
CNG005 |
Congenital Aphakia |
23 |
0.072 |
|