# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
STC013 |
Stickler Syndrome, Type Ii |
36 |
6.765 |
|
2 |
|
|
MRS002 |
Marshall Syndrome |
58 |
6.476 |
|
3 |
|
c
|
FBR029 |
Fibrochondrogenesis 1 |
40 |
5.990 |
|
4 |
|
c
|
DFN379 |
Deafness, Autosomal Dominant 37 |
20 |
4.075 |
|
5 |
|
P
|
STC001 |
Stickler Syndrome |
56 |
3.998 |
|
6 |
|
P
|
MYP006 |
Myopia |
55 |
3.890 |
|
7 |
|
P
|
FBR025 |
Fibrochondrogenesis |
48 |
3.775 |
|
8 |
|
P
|
BRS047 |
Breast Cancer |
97 |
3.641 |
|
9 |
|
|
CNN005 |
Connective Tissue Disease |
68 |
3.075 |
|
10 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
2.936 |
|
11 |
|
|
INT146 |
Intervertebral Disc Disease |
63 |
2.936 |
|
12 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
60 |
2.915 |
|
13 |
|
|
RTN017 |
Retinal Detachment |
61 |
2.893 |
|
14 |
|
P
|
CTR002 |
Cataract |
60 |
2.814 |
|
15 |
|
|
ART016 |
Aortic Aneurysm |
69 |
2.781 |
|
16 |
|
|
PRM024 |
Primary Angle-Closure Glaucoma |
40 |
2.397 |
|
17 |
|
|
HYP748 |
Hypertelorism |
50 |
2.343 |
|
18 |
|
|
MGL003 |
Megalocornea |
48 |
2.343 |
|
19 |
|
|
SPN027 |
Spinal Stenosis |
59 |
2.310 |
|
20 |
|
P
|
ECT006 |
Ectodermal Dysplasia |
62 |
2.271 |
|
21 |
|
P
|
MLT007 |
Multiple Epiphyseal Dysplasia |
58 |
2.271 |
|
22 |
|
P
|
STR020 |
Strabismus |
55 |
2.271 |
|
23 |
|
|
EST005 |
Esotropia |
42 |
2.271 |
|
24 |
|
|
PHR008 |
Pharynx Squamous Cell Carcinoma |
16 |
2.271 |
|
25 |
|
P
|
OST122 |
Osteogenesis Imperfecta, Type Iii |
57 |
1.695 |
|
26 |
|
|
TLC001 |
Telecanthus |
35 |
1.695 |
|
27 |
|
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
41 |
1.656 |
|
28 |
|
c
|
ATS076 |
Autosomal Recessive Stickler Syndrome |
32 |
1.656 |
|
29 |
|
P
|
VTR008 |
Vitreoretinal Degeneration |
29 |
1.656 |
|
30 |
|
|
ATS292 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
13 |
1.656 |
|
31 |
|
|
ODN023 |
Odontochondrodysplasia |
68 |
1.606 |
|
32 |
|
|
SPN209 |
Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations |
66 |
1.606 |
|
33 |
|
|
DHY002 |
Dihydropyrimidine Dehydrogenase Deficiency |
58 |
1.606 |
|
34 |
|
c
|
OTS013 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
57 |
1.606 |
|
35 |
|
|
FND002 |
Fundus Dystrophy |
55 |
1.606 |
|
36 |
|
|
KNS001 |
Kniest Dysplasia |
53 |
1.606 |
|
37 |
|
P
|
OTS014 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
52 |
1.606 |
|
38 |
|
|
SPN411 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related |
46 |
1.606 |
|
39 |
|
|
MCR037 |
Macroglossia |
45 |
1.606 |
|
40 |
|
P
|
ORF002 |
Orofacial Cleft |
44 |
1.606 |
|
41 |
|
|
SCH030 |
Schneckenbecken Dysplasia |
44 |
1.606 |
|
42 |
|
|
RTN002 |
Retinal Perforation |
38 |
1.606 |
|
43 |
|
|
CLF028 |
Cleft Soft Palate |
37 |
1.606 |
|
44 |
|
|
VTR002 |
Vitreous Syneresis |
31 |
1.606 |
|
45 |
|
|
KHL001 |
Kohler's Disease |
30 |
1.606 |
|
46 |
|
|
VTR001 |
Vitreoretinal Dystrophy |
22 |
1.606 |
|
47 |
|
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
45 |
0.236 |
|
48 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
0.202 |
|
49 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.122 |
|
50 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.122 |
|
51 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.122 |
|
52 |
|
|
OST012 |
Osteoarthritis |
78 |
0.122 |
|
53 |
|
|
INT323 |
Intraocular Pressure Quantitative Trait Locus |
62 |
0.122 |
|
54 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.086 |
|
55 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.086 |
|
56 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.086 |
|
57 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
0.086 |
|
58 |
|
P
|
SCL018 |
Scoliosis |
60 |
0.086 |
|
59 |
|
|
ADN018 |
Adenoma |
59 |
0.086 |
|
60 |
|
c
|
STC015 |
Stickler Syndrome, Type I |
40 |
0.086 |
|
61 |
|
|
SYN143 |
Syndromic Telecanthus |
9 |
0.086 |
|
62 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.061 |
|
63 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
77 |
0.061 |
|
64 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.061 |
|
65 |
|
P
|
SYS005 |
Systemic Scleroderma |
68 |
0.061 |
|
66 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.061 |
|
67 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
65 |
0.061 |
|
68 |
|
|
CLR108 |
Colorectal Adenoma |
64 |
0.061 |
|
69 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.061 |
|
70 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
0.061 |
|
71 |
|
|
OST024 |
Osteoporosis-Pseudoglioma Syndrome |
60 |
0.061 |
|
72 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
54 |
0.061 |
|
73 |
|
P
|
BRC006 |
Brachydactyly |
53 |
0.061 |
|
74 |
|
|
OST016 |
Osteochondrosis |
53 |
0.061 |
|
75 |
|
P
|
PRR016 |
Pierre Robin Syndrome |
52 |
0.061 |
|
76 |
|
|
SPN019 |
Spondylolisthesis |
51 |
0.061 |
|
77 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.061 |
|
78 |
|
|
DGN001 |
Degenerative Disc Disease |
48 |
0.061 |
|
79 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.061 |
|
80 |
|
|
AST006 |
Astigmatism |
47 |
0.061 |
|
81 |
|
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
0.061 |
|
82 |
|
|
DVR002 |
Diverticulitis |
43 |
0.061 |
|
83 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.061 |
|
84 |
|
P
|
NNS072 |
Nonsyndromic Hearing Loss |
41 |
0.061 |
|
85 |
|
|
SKL017 |
Skeletal Dysplasias |
40 |
0.061 |
|
86 |
|
|
VTR003 |
Vitreous Detachment |
39 |
0.061 |
|
87 |
|
c
|
NNS007 |
Nonsyndromic Deafness |
35 |
0.061 |
|
88 |
|
|
ISL075 |
Isolated Pierre Robin Sequence |
29 |
0.061 |
|
89 |
|
|
SPL005 |
Splenic Artery Aneurysm |
25 |
0.061 |
|
90 |
|
P
|
LTH050 |
Lethal Chondrodysplasia |
14 |
0.061 |
|