# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
CRB186 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to |
52 |
16.752 |
|
2 |
|
|
PLM124 |
Pulmonary Hypertension, Neonatal |
19 |
5.479 |
|
3 |
|
P
|
PLM037 |
Pulmonary Hypertension |
67 |
4.361 |
|
4 |
|
|
URC002 |
Urea Cycle Disorder |
51 |
3.048 |
|
5 |
|
|
ORN008 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to |
59 |
2.758 |
|
6 |
|
|
MCN007 |
Meconium Aspiration Syndrome |
55 |
2.758 |
|
7 |
|
|
ISV001 |
Isovaleric Acidemia |
55 |
2.758 |
|
8 |
|
|
ORT008 |
Orotic Aciduria |
55 |
2.758 |
|
9 |
|
P
|
SML016 |
Small Intestine Cancer |
50 |
2.758 |
|
10 |
|
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
57 |
2.441 |
|
11 |
|
|
PRP001 |
Propionic Acidemia |
65 |
1.950 |
|
12 |
|
|
CTR172 |
Citrullinemia, Classic |
64 |
1.950 |
|
13 |
|
|
ARG002 |
Argininosuccinic Aciduria |
61 |
1.950 |
|
14 |
|
|
ARG007 |
Argininemia |
57 |
1.950 |
|
15 |
|
P
|
CTR177 |
Citrullinemia, Type Ii, Adult-Onset |
57 |
1.950 |
|
16 |
|
c
|
SML009 |
Small Intestine Adenocarcinoma |
57 |
1.950 |
|
17 |
|
|
HYP774 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
55 |
1.950 |
|
18 |
|
P
|
MTH008 |
Methylmalonic Acidemia |
50 |
1.950 |
|
19 |
|
c
|
MCR137 |
Microphthalmia, Isolated 2 |
44 |
1.950 |
|
20 |
|
c
|
MCR114 |
Microphthalmia, Isolated 3 |
42 |
1.950 |
|
21 |
|
|
FLM001 |
Filamentary Keratitis |
29 |
1.950 |
|
22 |
|
c
|
DFN186 |
Deafness, Y-Linked 1 |
26 |
1.950 |
|
23 |
|
|
OCL069 |
Ocular Motor Apraxia |
51 |
0.158 |
|
24 |
|
|
NCT003 |
N-Acetylglutamate Synthase Deficiency |
45 |
0.158 |
|
25 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.100 |
|
26 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.100 |
|
27 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.100 |
|
28 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.100 |
|
29 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.100 |
|
30 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.100 |
|
31 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.071 |
|
32 |
|
|
NRL016 |
Neural Tube Defects |
82 |
0.071 |
|
33 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.071 |
|
34 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.071 |
|
35 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.071 |
|
36 |
|
P
|
HYP724 |
Hyperlipoproteinemia, Type Iii |
73 |
0.071 |
|
37 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
0.071 |
|
38 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
66 |
0.071 |
|
39 |
|
P
|
ABD014 |
Abdominal Obesity-Metabolic Syndrome 1 |
64 |
0.071 |
|
40 |
|
|
DPR016 |
Depression |
63 |
0.071 |
|
41 |
|
|
LPD008 |
Lipid Metabolism Disorder |
62 |
0.071 |
|
42 |
|
c
|
HPT001 |
Hepatitis C |
62 |
0.071 |
|
43 |
|
|
LPP008 |
Lipoprotein Quantitative Trait Locus |
62 |
0.071 |
|
44 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.071 |
|
45 |
|
|
BRS099 |
Breast Ductal Carcinoma |
62 |
0.071 |
|
46 |
|
P
|
LKD001 |
Leukodystrophy |
59 |
0.071 |
|
47 |
|
|
CCC001 |
Coccidioidomycosis |
58 |
0.071 |
|
48 |
|
|
MNT002 |
Mental Depression |
58 |
0.071 |
|
49 |
|
|
HMC014 |
Homocysteinemia |
53 |
0.071 |
|
50 |
|
P
|
RCT021 |
Rectum Cancer |
52 |
0.071 |
|
51 |
|
|
ART140 |
Arteries, Anomalies of |
52 |
0.071 |
|
52 |
|
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
52 |
0.071 |
|
53 |
|
|
MNN009 |
Meningoencephalitis |
49 |
0.071 |
|
54 |
|
|
HMC041 |
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity |
48 |
0.071 |
|
55 |
|
|
ORG002 |
Organic Acidemia |
44 |
0.071 |
|
56 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.071 |
|