# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
AXN010 |
Axenfeld-Rieger Syndrome, Type 3 |
49 |
5.068 |
|
2 |
|
c
|
ANT084 |
Anterior Segment Dysgenesis 3 |
37 |
4.436 |
|
3 |
|
P
|
BRS047 |
Breast Cancer |
97 |
4.120 |
|
4 |
|
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
59 |
3.945 |
|
5 |
|
P
|
ANT088 |
Anterior Segment Dysgenesis |
52 |
3.399 |
|
6 |
|
P
|
HYD006 |
Hydrocephalus |
66 |
3.196 |
|
7 |
|
|
PTR032 |
Peters-Plus Syndrome |
63 |
3.196 |
|
8 |
|
c
|
PRM032 |
Primary Congenital Glaucoma |
41 |
2.795 |
|
9 |
|
|
INT323 |
Intraocular Pressure Quantitative Trait Locus |
62 |
2.629 |
|
10 |
|
P
|
ANR048 |
Aniridia 1 |
63 |
2.282 |
|
11 |
|
c
|
GLC097 |
Glaucoma 3, Primary Congenital, a |
58 |
2.282 |
|
12 |
|
P
|
OPN001 |
Open-Angle Glaucoma |
49 |
2.260 |
|
13 |
|
P
|
ATR010 |
Atrial Heart Septal Defect |
60 |
2.235 |
|
14 |
|
P
|
MCR010 |
Microcephaly |
59 |
2.207 |
|
15 |
|
P
|
PRS062 |
Persistent Hyperplastic Primary Vitreous |
44 |
2.207 |
|
16 |
|
c
|
ANT071 |
Anterior Segment Dysgenesis 4 |
44 |
2.207 |
|
17 |
|
|
INT060 |
Intestinal Atresia |
40 |
2.207 |
|
18 |
|
P
|
CRN249 |
Cornea Plana |
28 |
2.207 |
|
19 |
|
|
BRN028 |
Brain Cancer |
74 |
2.173 |
|
20 |
|
|
KRT019 |
Keratitis, Hereditary |
65 |
2.173 |
|
21 |
|
P
|
CTR002 |
Cataract |
60 |
2.173 |
|
22 |
|
P
|
BRC006 |
Brachydactyly |
53 |
2.173 |
|
23 |
|
c
|
HRD007 |
Hereditary Lymphedema |
37 |
2.173 |
|
24 |
|
|
DND001 |
Dandy-Walker Syndrome |
50 |
1.667 |
|
25 |
|
c
|
GLC092 |
Glaucoma, Primary Open Angle |
62 |
1.642 |
|
26 |
|
|
CKT002 |
Cakut |
48 |
1.614 |
|
27 |
|
P
|
JVN008 |
Juvenile Glaucoma |
47 |
1.614 |
|
28 |
|
P
|
RNG032 |
Ring Chromosome |
42 |
1.614 |
|
29 |
|
|
ISL011 |
Isolated Aniridia |
31 |
1.614 |
|
30 |
|
c
|
RNG022 |
Ring Chromosome 6 |
28 |
1.614 |
|
31 |
|
|
CLB010 |
Coloboma of Macula |
52 |
1.580 |
|
32 |
|
P
|
SYN075 |
Syngnathia |
43 |
1.580 |
|
33 |
|
c
|
AXN012 |
Axenfeld-Rieger Syndrome, Type 2 |
32 |
1.580 |
|
34 |
|
|
TTH002 |
Tooth Agenesis |
60 |
1.537 |
|
35 |
|
|
NLP001 |
Nail-Patella Syndrome |
60 |
1.537 |
|
36 |
|
c
|
VSC019 |
Vesicoureteral Reflux 1 |
57 |
1.537 |
|
37 |
|
c
|
OTP007 |
Otopalatodigital Syndrome, Type Ii |
57 |
1.537 |
|
38 |
|
|
GLL028 |
Gillespie Syndrome |
53 |
1.537 |
|
39 |
|
|
WLM014 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation Syndrome |
52 |
1.537 |
|
40 |
|
|
LYM029 |
Lymphedema-Distichiasis Syndrome |
52 |
1.537 |
|
41 |
|
c
|
AXN009 |
Axenfeld-Rieger Syndrome, Type 1 |
49 |
1.537 |
|
42 |
|
|
MGL003 |
Megalocornea |
48 |
1.537 |
|
43 |
|
|
GLC084 |
Glaucoma, Normal Tension |
46 |
1.537 |
|
44 |
|
P
|
CRN024 |
Corneal Disease |
44 |
1.537 |
|
45 |
|
|
ERY017 |
Erythema Elevatum Diutinum |
38 |
1.537 |
|
46 |
|
|
HYD007 |
Hydrophthalmos |
36 |
1.537 |
|
47 |
|
|
GRN003 |
Granulomatous Dermatitis |
35 |
1.537 |
|
48 |
|
|
DST033 |
Distichiasis |
35 |
1.537 |
|
49 |
|
c
|
HRD206 |
Hereditary Lymphedema Ii |
33 |
1.537 |
|
50 |
|
P
|
SCL047 |
Sclerocornea |
32 |
1.537 |
|
51 |
|
|
IRS003 |
Iris Disease |
29 |
1.537 |
|
52 |
|
|
MLR026 |
Miliaria Crystallina |
21 |
1.537 |
|
53 |
|
|
MLR025 |
Miliaria Profunda |
19 |
1.537 |
|
54 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.129 |
|
55 |
|
c
|
ERL012 |
Early-Onset Glaucoma |
27 |
0.129 |
|
56 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.118 |
|
57 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.118 |
|
58 |
|
c
|
CNG216 |
Congenital Hydrocephalus |
47 |
0.105 |
|
59 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.091 |
|
60 |
|
|
END057 |
Endometrial Cancer |
74 |
0.091 |
|
61 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
66 |
0.091 |
|
62 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
0.091 |
|
63 |
|
c
|
CRB209 |
Cerebellar Malformation |
22 |
0.091 |
|
64 |
|
|
AXN011 |
Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities |
18 |
0.091 |
|
65 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.074 |
|
66 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.074 |
|
67 |
|
P
|
MLN008 |
Melanoma |
69 |
0.074 |
|
68 |
|
P
|
PLM037 |
Pulmonary Hypertension |
67 |
0.074 |
|
69 |
|
P
|
ART005 |
Arteriovenous Malformation |
65 |
0.074 |
|
70 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.074 |
|
71 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.074 |
|
72 |
|
|
MCR013 |
Microphthalmia |
57 |
0.074 |
|
73 |
|
c
|
HRD202 |
Hereditary Lymphedema I |
50 |
0.074 |
|
74 |
|
|
HRT011 |
Heart Septal Defect |
50 |
0.074 |
|
75 |
|
|
CRN027 |
Corneal Neovascularization |
47 |
0.074 |
|
76 |
|
c
|
EST002 |
Estrogen-Receptor Negative Breast Cancer |
45 |
0.074 |
|
77 |
|
|
NSP002 |
Nasopharyngitis |
43 |
0.074 |
|
78 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
0.074 |
|
79 |
|
|
CHR386 |
Chromosome 6pter-P24 Deletion Syndrome |
31 |
0.074 |
|
80 |
|
c
|
PX6002 |
Pax6-Related Aniridia |
24 |
0.074 |
|
81 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.053 |
|
82 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.053 |
|
83 |
|
|
ESP021 |
Esophageal Cancer |
90 |
0.053 |
|
84 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.053 |
|
85 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
0.053 |
|
86 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.053 |
|
87 |
|
|
CRV035 |
Cervical Cancer |
76 |
0.053 |
|
88 |
|
P
|
HRT032 |
Heart Disease |
75 |
0.053 |
|
89 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
70 |
0.053 |
|
90 |
|
P
|
TTR001 |
Tetralogy of Fallot |
70 |
0.053 |
|
91 |
|
c
|
CHR684 |
Chronic Kidney Disease |
70 |
0.053 |
|
92 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
0.053 |
|
93 |
|
P
|
OCL013 |
Oculodentodigital Dysplasia |
69 |
0.053 |
|
94 |
|
|
CRB039 |
Cerebrovascular Disease |
67 |
0.053 |
|
95 |
|
P
|
MSC005 |
Muscular Dystrophy |
66 |
0.053 |
|
96 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.053 |
|
97 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.053 |
|
98 |
|
P
|
GLM045 |
Glioma |
63 |
0.053 |
|
99 |
|
|
CNT061 |
Conotruncal Heart Malformations |
63 |
0.053 |
|
100 |
|
|
ACT119 |
Acute Promyelocytic Leukemia |
63 |
0.053 |
|
101 |
|
|
BRS099 |
Breast Ductal Carcinoma |
62 |
0.053 |
|
102 |
|
c
|
WLM018 |
Wilms Tumor 5 |
61 |
0.053 |
|
103 |
|
|
RTN017 |
Retinal Detachment |
61 |
0.053 |
|
104 |
|
P
|
VNT002 |
Ventricular Septal Defect |
60 |
0.053 |
|
105 |
|
|
HYD002 |
Hydronephrosis |
60 |
0.053 |
|
106 |
|
P
|
OPT006 |
Optic Nerve Disease |
60 |
0.053 |
|
107 |
|
P
|
BND020 |
Bone Disease |
59 |
0.053 |
|
108 |
|
|
DCT002 |
Ductal Carcinoma in Situ |
59 |
0.053 |
|
109 |
|
|
ADN018 |
Adenoma |
59 |
0.053 |
|
110 |
|
|
CHR177 |
Chromophobe Renal Cell Carcinoma |
57 |
0.053 |
|
111 |
|
P
|
PTT006 |
Pituitary Adenoma |
55 |
0.053 |
|
112 |
|
P
|
STR020 |
Strabismus |
55 |
0.053 |
|
113 |
|
P
|
DXT004 |
Dextro-Looped Transposition of the Great Arteries |
54 |
0.053 |
|
114 |
|
c
|
ATM082 |
Autoimmune Lymphoproliferative Syndrome, Type V |
54 |
0.053 |
|
115 |
|
P
|
INS002 |
in Situ Carcinoma |
53 |
0.053 |
|
116 |
|
P
|
RNL017 |
Renal Oncocytoma |
53 |
0.053 |
|
117 |
|
|
OCL006 |
Ocular Hypertension |
53 |
0.053 |
|
118 |
|
|
FRY006 |
Fryns Microphthalmia Syndrome |
52 |
0.053 |
|
119 |
|
c
|
MLN055 |
Melanoma, Cutaneous Malignant 10 |
52 |
0.053 |
|
120 |
|
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
0.053 |
|
121 |
|
|
CLR109 |
Colorectal Adenocarcinoma |
51 |
0.053 |
|
122 |
|
P
|
LSS002 |
Lissencephaly |
51 |
0.053 |
|
123 |
|
|
TNG007 |
Tongue Carcinoma |
51 |
0.053 |
|
124 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.053 |
|
125 |
|
|
HYP748 |
Hypertelorism |
50 |
0.053 |
|
126 |
|
P
|
EST001 |
Estrogen-Receptor Positive Breast Cancer |
49 |
0.053 |
|
127 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.053 |
|
128 |
|
|
FCL012 |
Facial Paralysis |
46 |
0.053 |
|
129 |
|
|
GLL048 |
Glial Tumor |
45 |
0.053 |
|
130 |
|
|
PTT037 |
Pituitary Tumors |
44 |
0.053 |
|
131 |
|
|
TNG009 |
Tongue Squamous Cell Carcinoma |
44 |
0.053 |
|
132 |
|
c
|
BRC109 |
Brachydactyly, Type E1 |
44 |
0.053 |
|
133 |
|
|
MCH006 |
Mechanical Strabismus |
42 |
0.053 |
|
134 |
|
P
|
CRB045 |
Cerebellar Hypoplasia |
41 |
0.053 |
|
135 |
|
|
STR094 |
Stromme Syndrome |
41 |
0.053 |
|
136 |
|
|
VSL013 |
Visual Impairment and Progressive Phthisis Bulbi |
41 |
0.053 |
|
137 |
|
|
TLC001 |
Telecanthus |
35 |
0.053 |
|
138 |
|
|
MLR009 |
Miliaria |
34 |
0.053 |
|
139 |
|
|
MLR001 |
Miliaria Rubra |
34 |
0.053 |
|
140 |
|
|
STR019 |
Steroid-Induced Glaucoma |
32 |
0.053 |
|
141 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.053 |
|
142 |
|
|
CBB005 |
Cobblestone Lissencephaly |
31 |
0.053 |
|
143 |
|
c
|
CRN280 |
Cornea Plana 2, Autosomal Recessive |
24 |
0.053 |
|
144 |
|
c
|
CRN279 |
Cornea Plana 1, Autosomal Dominant |
19 |
0.053 |
|
145 |
|
|
IRS009 |
Iris Hypoplasia with Glaucoma |
14 |
0.053 |
|