# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
DGR001 |
Digeorge Syndrome |
62 |
14.016 |
|
2 |
|
P
|
TTR001 |
Tetralogy of Fallot |
69 |
10.400 |
|
3 |
|
|
CNG472 |
Congenital Insensitivity to Pain with Severe Intellectual Disability |
14 |
9.407 |
|
4 |
|
c
|
ICH048 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
30 |
8.729 |
|
5 |
|
|
VLC001 |
Velocardiofacial Syndrome |
57 |
8.729 |
|
6 |
|
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
42 |
8.729 |
|
7 |
|
P
|
ATS364 |
Autism |
69 |
2.534 |
|
8 |
|
P
|
VNT002 |
Ventricular Septal Defect |
58 |
1.671 |
|
9 |
|
|
HRT011 |
Heart Septal Defect |
49 |
1.671 |
|
10 |
|
|
DCT002 |
Ductal Carcinoma in Situ |
58 |
1.625 |
|
11 |
|
|
BRS099 |
Breast Ductal Carcinoma |
61 |
1.625 |
|
12 |
|
P
|
INS002 |
in Situ Carcinoma |
53 |
1.625 |
|
13 |
|
|
DWN001 |
Down Syndrome |
70 |
1.364 |
|
14 |
|
P
|
HRT032 |
Heart Disease |
81 |
1.364 |
|
15 |
|
|
CHR178 |
Chromosomal Triplication |
34 |
1.364 |
|
16 |
|
|
MSC020 |
Mosaic Trisomy 8 |
32 |
1.364 |
|
17 |
|
|
PLM173 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal |
34 |
1.335 |
|
18 |
|
|
SKN022 |
Skin Squamous Cell Carcinoma |
54 |
1.335 |
|
19 |
|
|
PSD011 |
Pseudovascular Skin Squamous Cell Carcinoma |
16 |
1.335 |
|
20 |
|
P
|
SCH015 |
Schizophrenia |
74 |
1.181 |
|
21 |
|
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
55 |
1.181 |
|
22 |
|
|
SCR020 |
Sacral Defect with Anterior Meningocele |
59 |
0.965 |
|
23 |
|
|
PLM059 |
Pulmonary Atresia with Ventricular Septal Defect |
29 |
0.965 |
|
24 |
|
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
0.965 |
|
25 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
68 |
0.965 |
|
26 |
|
|
PNS018 |
Pain Sensitivity Quantitative Trait Locus 1 |
23 |
0.965 |
|
27 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.965 |
|
28 |
|
c
|
VNT024 |
Ventricular Septal Defect 3 |
24 |
0.965 |
|
29 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
63 |
0.965 |
|
30 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.753 |
|
31 |
|
|
MLG163 |
Malignant Tumor of Penis |
29 |
0.682 |
|
32 |
|
c
|
NRF023 |
Neurofibromatosis, Type Ii |
71 |
0.682 |
|
33 |
|
|
HMF006 |
Hemifacial Microsomia |
55 |
0.682 |
|
34 |
|
|
WST001 |
West Syndrome |
59 |
0.682 |
|
35 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
72 |
0.682 |
|
36 |
|
P
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
52 |
0.682 |
|
37 |
|
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
62 |
0.682 |
|
38 |
|
c
|
FNC042 |
Fanconi Anemia, Complementation Group D2 |
54 |
0.682 |
|
39 |
|
|
KFM001 |
Kaufman Oculocerebrofacial Syndrome |
55 |
0.682 |
|
40 |
|
|
MNN043 |
Meningioma, Familial |
79 |
0.682 |
|
41 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
0.682 |
|
42 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
0.682 |
|
43 |
|
|
SMH001 |
Sm-Ahnmd |
31 |
0.682 |
|
44 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
0.682 |
|
45 |
|
P
|
EPL164 |
Epilepsy |
68 |
0.682 |
|
46 |
|
|
SYS004 |
Systemic Mastocytosis |
63 |
0.682 |
|
47 |
|
P
|
MST009 |
Mastocytosis |
64 |
0.682 |
|
48 |
|
|
SPN035 |
Spindle Cell Sarcoma |
54 |
0.682 |
|
49 |
|
|
SCR001 |
Secretory Meningioma |
40 |
0.682 |
|
50 |
|
|
LYM002 |
Lymphoplasmacyte-Rich Meningioma |
35 |
0.682 |
|
51 |
|
P
|
LKM002 |
Leukemia |
67 |
0.682 |
|
52 |
|
|
SRC014 |
Sarcoma |
65 |
0.682 |
|
53 |
|
|
FLL013 |
Follicular Dendritic Cell Sarcoma |
44 |
0.682 |
|
54 |
|
|
PNL012 |
Penile Cancer |
57 |
0.682 |
|
55 |
|
|
SPN021 |
Spinal Meningioma |
50 |
0.682 |
|
56 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.682 |
|
57 |
|
P
|
NRF002 |
Neurofibromatosis |
57 |
0.682 |
|
58 |
|
|
ORL011 |
Oral Cancer |
60 |
0.682 |
|
59 |
|
P
|
ENC018 |
Encephalopathy |
62 |
0.682 |
|
60 |
|
P
|
HDC001 |
Headache |
57 |
0.682 |
|
61 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
0.533 |
|
62 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.533 |
|
63 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
68 |
0.533 |
|
64 |
|
|
CLL010 |
Cellular Ependymoma |
57 |
0.533 |
|