# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
GLT011 |
Glutamine Deficiency, Congenital |
32 |
48.632 |
|
2 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
17.894 |
|
3 |
|
P
|
ALZ034 |
Alzheimer Disease |
87 |
14.040 |
|
4 |
|
|
HPT019 |
Hepatic Encephalopathy |
59 |
13.242 |
|
5 |
|
P
|
MYP004 |
Myopathy |
67 |
12.788 |
|
6 |
|
|
RTN017 |
Retinal Detachment |
60 |
12.167 |
|
7 |
|
P
|
SCH015 |
Schizophrenia |
74 |
12.167 |
|
8 |
|
|
BRN004 |
Brain Edema |
54 |
12.167 |
|
9 |
|
P
|
OLG002 |
Oligodendroglioma |
66 |
12.167 |
|
10 |
|
P
|
TMP001 |
Temporal Lobe Epilepsy |
49 |
12.167 |
|
11 |
|
|
HPT067 |
Hepatocellular Adenoma |
43 |
10.812 |
|
12 |
|
|
MDD011 |
Mood Disorder |
62 |
10.555 |
|
13 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
9.934 |
|
14 |
|
|
VTR013 |
Vitreoretinopathy, Neovascular Inflammatory |
62 |
9.934 |
|
15 |
|
|
RYS001 |
Reye Syndrome |
49 |
9.934 |
|
16 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
80 |
7.902 |
|
17 |
|
|
NLX003 |
Neu-Laxova Syndrome 2 |
46 |
7.025 |
|
18 |
|
|
GRD009 |
Gordon Holmes Syndrome |
50 |
7.025 |
|
19 |
|
c
|
GRS013 |
Griscelli Syndrome, Type 1 |
44 |
7.025 |
|
20 |
|
|
GLT007 |
Glutathione Synthetase Deficiency |
48 |
7.025 |
|
21 |
|
|
OPT070 |
Optic Nerve Hypoplasia, Bilateral |
56 |
7.025 |
|
22 |
|
c
|
GRS014 |
Griscelli Syndrome, Type 2 |
51 |
7.025 |
|
23 |
|
P
|
GRS003 |
Griscelli Syndrome |
53 |
7.025 |
|
24 |
|
|
PLS002 |
Peliosis Hepatis |
35 |
7.025 |
|
25 |
|
|
URC002 |
Urea Cycle Disorder |
51 |
7.025 |
|
26 |
|
|
LVR031 |
Liver Benign Neoplasm |
28 |
7.025 |
|
27 |
|
|
FND002 |
Fundus Dystrophy |
55 |
7.025 |
|
28 |
|
|
HPT008 |
Hepatic Tuberculosis |
36 |
7.025 |
|
29 |
|
|
DSS008 |
Disease of Mental Health |
74 |
7.025 |
|
30 |
|
|
HMT001 |
Hematocele of Tunica Vaginalis Testis |
29 |
7.025 |
|
31 |
|
|
ACT078 |
Acute Porphyria |
49 |
7.025 |
|
32 |
|
|
FBR086 |
Fibrolamellar Carcinoma |
59 |
7.025 |
|
33 |
|
|
SBL003 |
Subleukemic Leukemia |
29 |
7.025 |
|
34 |
|
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
57 |
3.762 |
|
35 |
|
|
LWG006 |
Low Grade Glioma |
41 |
2.660 |
|
36 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
2.660 |
|
37 |
|
|
GLL048 |
Glial Tumor |
52 |
2.660 |
|
38 |
|
|
MNT002 |
Mental Depression |
57 |
2.660 |
|
39 |
|
|
DPR016 |
Depression |
65 |
2.660 |
|
40 |
|
|
GLM045 |
Glioma |
63 |
2.660 |
|
41 |
|
P
|
CRN300 |
Coronary Heart Disease 1 |
73 |
2.319 |
|
42 |
|
P
|
DBT009 |
Diabetes Mellitus |
67 |
2.186 |
|
43 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
1.939 |
|
44 |
|
P
|
HPT021 |
Hepatitis |
69 |
1.873 |
|
45 |
|
c
|
HPT016 |
Hepatitis B |
62 |
1.873 |
|
46 |
|
P
|
ENC018 |
Encephalopathy |
62 |
1.873 |
|
47 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
1.756 |
|
48 |
|
P
|
EPL164 |
Epilepsy |
68 |
1.642 |
|
49 |
|
P
|
BRS047 |
Breast Cancer |
98 |
1.575 |
|
50 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
1.520 |
|
51 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
1.520 |
|
52 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
1.520 |
|
53 |
|
|
47X002 |
47,xyy |
48 |
1.419 |
|
54 |
|
|
ERL001 |
Early Myoclonic Encephalopathy |
62 |
1.419 |
|
55 |
|
|
SLD011 |
Solid Pseudopapillary Carcinoma of Pancreas |
29 |
1.388 |
|
56 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
1.388 |
|
57 |
|
|
PNC013 |
Pancreatic Ductal Carcinoma |
48 |
1.388 |
|
58 |
|
|
THY020 |
Thyroid Hyalinizing Trabecular Adenoma |
20 |
1.388 |
|
59 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
64 |
1.241 |
|
60 |
|
|
SKN016 |
Skin Disease |
63 |
1.241 |
|
61 |
|
P
|
HRT032 |
Heart Disease |
81 |
1.241 |
|
62 |
|
|
IRR002 |
Irritable Bowel Syndrome |
65 |
1.241 |
|
63 |
|
P
|
ATS364 |
Autism |
69 |
1.172 |
|
64 |
|
|
MLD018 |
Mild Cognitive Impairment |
48 |
1.075 |
|
65 |
|
|
HPT004 |
Hepatic Coma |
43 |
1.075 |
|
66 |
|
P
|
BCL017 |
B-Cell Lymphoma |
59 |
1.075 |
|
67 |
|
P
|
SZR006 |
Seizure Disorder |
70 |
0.878 |
|
68 |
|
|
SPP011 |
Suppression of Tumorigenicity 12 |
61 |
0.878 |
|
69 |
|
|
SCC001 |
Succinic Semialdehyde Dehydrogenase Deficiency |
59 |
0.878 |
|
70 |
|
|
HMC014 |
Homocysteinemia |
52 |
0.878 |
|
71 |
|
P
|
FML011 |
Familial Adenomatous Polyposis |
71 |
0.878 |
|
72 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
63 |
0.878 |
|
73 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.878 |
|
74 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
80 |
0.878 |
|
75 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.878 |
|
76 |
|
|
RTN023 |
Retinitis |
46 |
0.878 |
|
77 |
|
|
FTT001 |
Fatty Liver Disease |
62 |
0.878 |
|
78 |
|
|
HPT022 |
Hepatoblastoma |
54 |
0.878 |
|
79 |
|
P
|
LVR013 |
Liver Disease |
69 |
0.878 |
|
80 |
|
|
GLB002 |
Glioblastoma |
67 |
0.878 |
|
81 |
|
|
NRN001 |
Neuroendocrine Carcinoma |
47 |
0.878 |
|
82 |
|
|
ADN018 |
Adenoma |
59 |
0.878 |
|
83 |
|
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
54 |
0.878 |
|
84 |
|
|
DNG003 |
Dengue Disease |
65 |
0.878 |
|
85 |
|
P
|
LKM002 |
Leukemia |
67 |
0.878 |
|
86 |
|
P
|
MCR010 |
Microcephaly |
60 |
0.878 |
|
87 |
|
|
RBS001 |
Rabies |
58 |
0.878 |
|
88 |
|
|
ISC004 |
Ischemia |
61 |
0.878 |
|
89 |
|
P
|
HYP265 |
Hypotonia |
42 |
0.878 |
|
90 |
|
|
MTC005 |
Mitochondrial Metabolism Disease |
45 |
0.621 |
|
91 |
|
|
ART140 |
Arteries, Anomalies of |
53 |
0.621 |
|
92 |
|
|
AGN016 |
Aging |
54 |
0.621 |
|
93 |
|
c
|
EXD008 |
Exudative Vitreoretinopathy 1 |
71 |
0.621 |
|
94 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
0.621 |
|
95 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
80 |
0.621 |
|
96 |
|
|
AGN018 |
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome |
57 |
0.621 |
|
97 |
|
c
|
MCR115 |
Microvascular Complications of Diabetes 5 |
65 |
0.621 |
|
98 |
|
|
LPP008 |
Lipoprotein Quantitative Trait Locus |
65 |
0.621 |
|
99 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
72 |
0.621 |
|
100 |
|
P
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
52 |
0.621 |
|
101 |
|
P
|
NNP021 |
Nanophthalmos |
39 |
0.621 |
|
102 |
|
|
CHL152 |
Childhood Acute Lymphocytic Leukemia |
50 |
0.621 |
|
103 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
0.621 |
|
104 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.621 |
|
105 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.621 |
|
106 |
|
c
|
EXS020 |
Exostoses, Multiple, Type Ii |
38 |
0.621 |
|
107 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
0.621 |
|
108 |
|
P
|
PRK039 |
Parkinsonism |
55 |
0.621 |
|
109 |
|
P
|
MYP006 |
Myopia |
56 |
0.621 |
|
110 |
|
c
|
ACT075 |
Acute Myocardial Infarction |
56 |
0.621 |
|
111 |
|
P
|
MTH008 |
Methylmalonic Acidemia |
52 |
0.621 |
|
112 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.621 |
|
113 |
|
P
|
RTN016 |
Retinal Degeneration |
52 |
0.621 |
|
114 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.621 |
|
115 |
|
|
PRN009 |
Paranoid Schizophrenia |
49 |
0.621 |
|
116 |
|
|
CRT013 |
Carotid Stenosis |
51 |
0.621 |
|
117 |
|
|
TRN015 |
Transient Cerebral Ischemia |
63 |
0.621 |
|
118 |
|
|
MCR013 |
Microphthalmia |
60 |
0.621 |
|
119 |
|
|
TCL027 |
T-Cell Acute Lymphoblastic Leukemia |
51 |
0.621 |
|
120 |
|
|
CHL068 |
Cholestasis |
61 |
0.621 |
|
121 |
|
|
ISL099 |
Isolated Methylmalonic Acidemia |
36 |
0.621 |
|
122 |
|
|
STX004 |
Stxbp1 Encephalopathy with Epilepsy |
15 |
0.621 |
|
123 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.551 |
|