# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
DRR016 |
Diarrhea 2, with Microvillus Atrophy |
54 |
85.862 |
|
2 |
|
c
|
MY5001 |
Myo5b-Related Progressive Familial Intrahepatic Cholestasis |
8 |
28.877 |
|
3 |
|
P
|
DRR001 |
Diarrhea |
55 |
23.274 |
|
4 |
|
c
|
CHL132 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
57 |
17.679 |
|
5 |
|
c
|
CNG478 |
Congenital Diarrhea |
30 |
15.736 |
|
6 |
|
|
SCR003 |
Secretory Diarrhea |
35 |
13.589 |
|
7 |
|
c
|
PRG047 |
Progressive Familial Intrahepatic Cholestasis |
64 |
12.814 |
|
8 |
|
P
|
FNC004 |
Fanconi Syndrome |
60 |
12.759 |
|
9 |
|
P
|
DYS005 |
Dyslexia |
41 |
11.446 |
|
10 |
|
c
|
CHL134 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
55 |
10.508 |
|
11 |
|
P
|
PHC019 |
Pheochromocytoma-Paraganglioma |
35 |
10.296 |
|
12 |
|
c
|
CHL136 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
57 |
8.093 |
|
13 |
|
|
PRP098 |
Proprotein Convertase 1/3 Deficiency |
37 |
7.430 |
|
14 |
|
|
IMM149 |
Immunodeficiency 43 |
39 |
7.430 |
|
15 |
|
|
GST093 |
Gastrointestinal Defects and Immunodeficiency Syndrome |
50 |
7.430 |
|
16 |
|
|
DRR003 |
Diarrhea 5, with Tufting Enteropathy, Congenital |
45 |
7.430 |
|
17 |
|
c
|
CHL143 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
40 |
7.430 |
|
18 |
|
|
DRR013 |
Diarrhea 8, Secretory Sodium, Congenital |
35 |
7.430 |
|
19 |
|
P
|
DRR005 |
Diarrhea 4, Malabsorptive, Congenital |
38 |
7.430 |
|
20 |
|
c
|
GRS013 |
Griscelli Syndrome, Type 1 |
44 |
7.430 |
|
21 |
|
P
|
FNC026 |
Fanconi Renotubular Syndrome 1 |
49 |
7.430 |
|
22 |
|
P
|
GRS003 |
Griscelli Syndrome |
53 |
7.430 |
|
23 |
|
|
CHL068 |
Cholestasis |
61 |
6.497 |
|
24 |
|
P
|
FML355 |
Familial Intrahepatic Cholestasis |
42 |
5.519 |
|
25 |
|
P
|
GST053 |
Gastric Cancer |
83 |
4.126 |
|
26 |
|
P
|
INT068 |
Intestinal Disease |
53 |
3.977 |
|
27 |
|
P
|
LVR013 |
Liver Disease |
69 |
3.337 |
|
28 |
|
P
|
PHC003 |
Pheochromocytoma |
69 |
3.160 |
|
29 |
|
P
|
PRG013 |
Paraganglioma |
57 |
3.160 |
|
30 |
|
|
ADR040 |
Adrenal Gland Pheochromocytoma |
46 |
3.160 |
|
31 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
2.866 |
|
32 |
|
|
MTB004 |
Metabolic Acidosis |
48 |
2.841 |
|
33 |
|
|
ATS010 |
Autosomal Recessive Disease |
42 |
2.235 |
|
34 |
|
|
RTN187 |
Retinitis Pigmentosa-Deafness Syndrome |
48 |
2.095 |
|
35 |
|
P
|
USH001 |
Usher Syndrome |
64 |
2.095 |
|
36 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
1.755 |
|
37 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
1.755 |
|
38 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
1.755 |
|
39 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
1.755 |
|
40 |
|
|
ATP014 |
Atp8b1 Deficiency |
28 |
1.706 |
|
41 |
|
P
|
TRC086 |
Trichohepatoenteric Syndrome 1 |
59 |
1.483 |
|
42 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
28 |
1.327 |
|
43 |
|
P
|
SCH015 |
Schizophrenia |
74 |
1.149 |
|
44 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
1.149 |
|
45 |
|
|
CNG064 |
Congenital Chloride Diarrhea |
34 |
1.149 |
|
46 |
|
|
CLF001 |
Cleft Lip |
53 |
1.149 |
|
47 |
|
|
CLF056 |
Cleft Lip with or Without Cleft Palate |
42 |
1.149 |
|
48 |
|
|
PLY012 |
Polyhydramnios |
46 |
1.149 |
|
49 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
61 |
0.938 |
|
50 |
|
P
|
ALG028 |
Alagille Syndrome 1 |
73 |
0.938 |
|
51 |
|
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
68 |
0.872 |
|
52 |
|
|
XLN206 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
31 |
0.663 |
|
53 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.663 |
|
54 |
|
|
FBR012 |
Fabry Disease |
70 |
0.663 |
|
55 |
|
c
|
CHL137 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
53 |
0.663 |
|
56 |
|
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
81 |
0.663 |
|
57 |
|
P
|
CRG003 |
Crigler-Najjar Syndrome, Type I |
63 |
0.663 |
|
58 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
0.663 |
|
59 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.663 |
|
60 |
|
|
MTC096 |
Mitchell-Riley Syndrome |
31 |
0.663 |
|
61 |
|
|
TBL029 |
Tubulin, Beta |
28 |
0.663 |
|
62 |
|
|
ALG016 |
Alagille Syndrome 2 |
34 |
0.663 |
|
63 |
|
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
51 |
0.663 |
|
64 |
|
|
DBN001 |
Dubin-Johnson Syndrome |
57 |
0.663 |
|
65 |
|
P
|
TTR001 |
Tetralogy of Fallot |
69 |
0.663 |
|
66 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
64 |
0.663 |
|
67 |
|
P
|
KBK002 |
Kabuki Syndrome 1 |
65 |
0.663 |
|
68 |
|
P
|
CHL066 |
Cholangitis |
52 |
0.663 |
|
69 |
|
P
|
ZMM001 |
Zimmermann-Laband Syndrome |
39 |
0.663 |
|
70 |
|
P
|
LKM002 |
Leukemia |
67 |
0.663 |
|
71 |
|
|
BLR001 |
Biliary Atresia |
55 |
0.663 |
|
72 |
|
P
|
SCL009 |
Sclerosing Cholangitis |
48 |
0.663 |
|
73 |
|
|
MDD011 |
Mood Disorder |
62 |
0.663 |
|
74 |
|
P
|
INS002 |
in Situ Carcinoma |
53 |
0.663 |
|
75 |
|
|
BLR012 |
Biliary Hypoplasia |
11 |
0.663 |
|
76 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.551 |
|
77 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
0.551 |
|
78 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
0.551 |
|
79 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
0.551 |
|
80 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
68 |
0.523 |
|
81 |
|
|
MYP002 |
Myoepithelial Carcinoma |
46 |
0.523 |
|
82 |
|
|
CRV013 |
Cervical Adenoid Cystic Carcinoma |
33 |
0.523 |
|
83 |
|
|
EPT010 |
Epithelial-Myoepithelial Carcinoma |
55 |
0.523 |
|