# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
MCR119 |
Microtia, Hearing Impairment, and Cleft Palate |
29 |
50.144 |
|
2 |
|
|
MCR103 |
Microtia |
44 |
29.016 |
|
3 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
17.488 |
|
4 |
|
P
|
ECT100 |
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 |
51 |
10.958 |
|
|
6 |
|
P
|
BRN006 |
Branchiootorenal Syndrome |
50 |
10.414 |
|
7 |
|
|
HYP791 |
Hypothyroidism, Thyroidal or Athyroidal, with Spiky Hair and Cleft Palate |
43 |
8.404 |
|
8 |
|
P
|
ORF002 |
Orofacial Cleft |
43 |
8.404 |
|
9 |
|
|
HND004 |
Hand-Foot-Genital Syndrome |
47 |
8.404 |
|
10 |
|
|
HMF006 |
Hemifacial Microsomia |
55 |
7.749 |
|
11 |
|
|
PRX093 |
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias |
34 |
7.749 |
|
12 |
|
|
CMB016 |
Combined Oxidative Phosphorylation Deficiency 5 |
35 |
7.749 |
|
13 |
|
|
OCL048 |
Oculoauricular Syndrome |
36 |
7.749 |
|
14 |
|
|
SCR036 |
Sacrum Chordoma |
16 |
7.749 |
|
15 |
|
|
CLV002 |
Clivus Chordoma |
27 |
7.749 |
|
16 |
|
|
GLL048 |
Glial Tumor |
52 |
3.175 |
|
17 |
|
|
GLM045 |
Glioma |
63 |
3.175 |
|
18 |
|
|
ATH001 |
Athabaskan Brainstem Dysgenesis Syndrome |
52 |
3.023 |
|
19 |
|
P
|
CRB210 |
Cerebrofacial Arteriovenous Metameric Syndrome |
27 |
2.986 |
|
20 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
2.673 |
|
21 |
|
|
NRL016 |
Neural Tube Defects |
81 |
2.546 |
|
22 |
|
P
|
TRC072 |
Treacher Collins Syndrome 1 |
62 |
2.277 |
|
23 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
2.277 |
|
24 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
61 |
2.175 |
|
25 |
|
|
PLY150 |
Polykaryocytosis Inducer |
29 |
2.122 |
|
26 |
|
|
CLF001 |
Cleft Lip |
53 |
2.122 |
|
27 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
2.122 |
|
28 |
|
|
GLB002 |
Glioblastoma |
67 |
1.466 |
|
29 |
|
|
GRW007 |
Growth Hormone Deficiency |
46 |
1.311 |
|
30 |
|
|
ISL003 |
Isolated Growth Hormone Deficiency |
57 |
1.311 |
|
31 |
|
P
|
HYP040 |
Hypospadias |
51 |
1.311 |
|
32 |
|
|
DWR001 |
Dwarfism |
44 |
1.311 |
|
33 |
|
|
ESP021 |
Esophageal Cancer |
83 |
1.229 |
|
34 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
1.207 |
|
35 |
|
c
|
DFN159 |
Deafness, Autosomal Dominant 5 |
31 |
1.136 |
|
36 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
1.136 |
|
37 |
|
P
|
HLP001 |
Holoprosencephaly |
69 |
1.136 |
|
38 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.927 |
|
39 |
|
|
CHN065 |
Choanal Atresia, Posterior |
48 |
0.927 |
|
40 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
0.927 |
|
41 |
|
|
CHR103 |
Charge Syndrome |
66 |
0.927 |
|
42 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
0.927 |
|
43 |
|
|
MND020 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
51 |
0.927 |
|
44 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
0.927 |
|
45 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
0.927 |
|
46 |
|
|
CLB010 |
Coloboma of Macula |
53 |
0.927 |
|
47 |
|
|
CHL065 |
Cholangiocarcinoma |
58 |
0.927 |
|
48 |
|
P
|
MYL006 |
Myeloid Leukemia |
61 |
0.927 |
|
49 |
|
|
DYS018 |
Dysostosis |
44 |
0.927 |
|
50 |
|
|
HGH043 |
High Grade Glioma |
45 |
0.927 |
|
51 |
|
P
|
MCR010 |
Microcephaly |
60 |
0.927 |
|
52 |
|
|
KRT002 |
Keratomalacia |
55 |
0.927 |
|
53 |
|
|
INT079 |
Intrahepatic Cholangiocarcinoma |
51 |
0.927 |
|
54 |
|
|
CLF004 |
Cleft Lip/palate |
57 |
0.656 |
|
55 |
|
|
ATH013 |
Atherosclerosis Susceptibility |
63 |
0.656 |
|
56 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
76 |
0.656 |
|
57 |
|
|
CRV035 |
Cervical Cancer |
73 |
0.656 |
|
|
59 |
|
|
BRN003 |
Branchiooculofacial Syndrome |
53 |
0.656 |
|
60 |
|
|
CLT003 |
Colitis |
63 |
0.656 |
|
61 |
|
|
GLS018 |
Glass Syndrome |
61 |
0.656 |
|
62 |
|
c
|
PRS076 |
Prostate Cancer, Hereditary, 15 |
13 |
0.656 |
|
63 |
|
P
|
JBR020 |
Joubert Syndrome 1 |
74 |
0.656 |
|
64 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
0.656 |
|
65 |
|
|
ULC004 |
Ulcerative Colitis |
74 |
0.656 |
|
66 |
|
|
CRV025 |
Cervical Incompetence |
35 |
0.656 |
|
67 |
|
|
BCR002 |
Bicornuate Uterus |
24 |
0.656 |
|
68 |
|
P
|
LVR013 |
Liver Disease |
69 |
0.656 |
|
69 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
66 |
0.656 |
|
70 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
0.656 |
|
71 |
|
|
OST012 |
Osteoarthritis |
77 |
0.656 |
|
72 |
|
P
|
LKM002 |
Leukemia |
67 |
0.656 |
|
73 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.656 |
|
74 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.656 |
|
75 |
|
|
TTN003 |
Tetanus |
65 |
0.656 |
|
76 |
|
c
|
HPT016 |
Hepatitis B |
62 |
0.656 |
|
77 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.656 |
|
78 |
|
|
ESP027 |
Esophagus Squamous Cell Carcinoma |
45 |
0.574 |
|
79 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.551 |
|
80 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.551 |
|