# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
QLT026 |
Qualitative or Quantitative Defects of Glucosamine -2-Epimerase/n-Acetylmannosamine Kinase - |
1 |
19.281 |
|
2 |
|
P
|
MYP004 |
Myopathy |
67 |
14.261 |
|
3 |
|
|
NNK001 |
Nonaka Myopathy |
58 |
13.150 |
|
4 |
|
P
|
MYS079 |
Miyoshi Muscular Dystrophy |
54 |
8.208 |
|
5 |
|
|
MYP120 |
Myopathy, Distal, with Rimmed Vacuoles |
32 |
7.183 |
|
6 |
|
|
SLR001 |
Sialuria |
48 |
4.315 |
|
7 |
|
|
ATS010 |
Autosomal Recessive Disease |
42 |
3.992 |
|
8 |
|
|
NRM005 |
Neuromuscular Disease |
63 |
3.662 |
|
|
10 |
|
|
PRT251 |
Proteinuria, Chronic Benign |
57 |
2.560 |
|
11 |
|
|
ACT098 |
Acute Erythroid Leukemia |
55 |
2.356 |
|
12 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
2.114 |
|
13 |
|
|
GLY031 |
Glycoproteinosis |
49 |
2.114 |
|
14 |
|
|
HMP009 |
Haemophilus Influenzae |
41 |
2.114 |
|
15 |
|
|
GLM044 |
Glomerular Disease |
35 |
1.799 |
|
16 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
1.799 |
|
17 |
|
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
1.799 |
|
18 |
|
P
|
LTR001 |
Lateral Sclerosis |
58 |
1.799 |
|
19 |
|
|
LYM017 |
Lyme Disease |
62 |
1.799 |
|
20 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
1.701 |
|
21 |
|
P
|
FRS004 |
Free Sialic Acid Storage Disorders |
41 |
1.701 |
|
22 |
|
P
|
SLL003 |
Salla Disease |
45 |
1.521 |
|
23 |
|
|
INF159 |
Infantile Sialic Acid Storage Disease |
41 |
1.317 |
|
24 |
|
P
|
MYS005 |
Myositis |
56 |
1.317 |
|
25 |
|
|
CHL014 |
Cholera |
62 |
1.317 |
|
26 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
1.317 |
|
27 |
|
P
|
OST002 |
Osteoporosis |
76 |
1.076 |
|
28 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
33 |
1.076 |
|
29 |
|
|
INF034 |
Infective Endocarditis |
54 |
1.076 |
|
30 |
|
|
INC002 |
Inclusion Body Myositis |
57 |
1.076 |
|
31 |
|
P
|
QLT041 |
Qualitative or Quantitative Defects of Alpha-Dystroglycan |
18 |
1.076 |
|
32 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
1.076 |
|
33 |
|
P
|
THR014 |
Thrombocytopenia |
66 |
1.076 |
|
34 |
|
|
IGG001 |
Iga Glomerulonephritis |
50 |
1.076 |
|
35 |
|
P
|
MMB011 |
Membranous Nephropathy |
50 |
1.076 |
|
36 |
|
|
MSC190 |
Muscular Disease |
37 |
1.076 |
|
37 |
|
P
|
END033 |
Endocarditis |
58 |
1.076 |
|
38 |
|
P
|
GLM007 |
Glomerulonephritis |
60 |
1.076 |
|
39 |
|
c
|
CNG441 |
Congenital Muscular Dystrophy Due to Dystroglycanopathy |
28 |
1.076 |
|
40 |
|
|
INF047 |
Infantile Free Sialic Acid Storage Disease |
16 |
1.076 |
|
41 |
|
|
GNG013 |
Gingivitis |
59 |
1.039 |
|
42 |
|
|
GNG011 |
Gingival Disease |
54 |
1.039 |
|
43 |
|
c
|
ATS431 |
Autosomal Recessive Distal Myopathy |
10 |
0.761 |
|
44 |
|
|
QLT002 |
Qualitative or Quantitative Defects of Dystrophin |
19 |
0.761 |
|
45 |
|
c
|
MCP046 |
Mucopolysaccharidosis, Type Iiid |
50 |
0.761 |
|
46 |
|
c
|
PRX045 |
Peroxisome Biogenesis Disorder 1b |
62 |
0.761 |
|
47 |
|
P
|
KLZ004 |
Kala-Azar 1 |
41 |
0.761 |
|
48 |
|
|
VNH007 |
Von Hippel-Lindau Syndrome |
73 |
0.761 |
|
49 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
64 |
0.761 |
|
50 |
|
|
ARG002 |
Argininosuccinic Aciduria |
61 |
0.761 |
|
51 |
|
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
59 |
0.761 |
|
52 |
|
|
CYS001 |
Cystic Fibrosis |
78 |
0.761 |
|
53 |
|
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
45 |
0.761 |
|
54 |
|
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
0.761 |
|
55 |
|
|
INV001 |
Invasive Aspergillosis |
49 |
0.761 |
|
56 |
|
|
MNN032 |
Meningococcal Meningitis |
53 |
0.761 |
|
57 |
|
P
|
FML023 |
Familial Hemiplegic Migraine |
53 |
0.761 |
|
58 |
|
P
|
OPT048 |
Opitz-Gbbb Syndrome |
49 |
0.761 |
|
59 |
|
P
|
MYF003 |
Myofibrillar Myopathy |
49 |
0.761 |
|
60 |
|
P
|
HYP768 |
Hyperlipoproteinemia, Type I |
67 |
0.761 |
|
61 |
|
|
CNV004 |
Canavan Disease |
62 |
0.761 |
|
62 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
80 |
0.761 |
|
63 |
|
|
CHR003 |
Cherubism |
57 |
0.761 |
|
64 |
|
c
|
PRX060 |
Peroxisome Biogenesis Disorder 5a |
33 |
0.761 |
|
65 |
|
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
70 |
0.761 |
|
66 |
|
P
|
ASP006 |
Aspergillosis |
72 |
0.761 |
|
67 |
|
|
ENT011 |
Enterocolitis |
55 |
0.761 |
|
68 |
|
P
|
GLC113 |
Galactosemia I |
66 |
0.761 |
|
69 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
0.761 |
|
70 |
|
|
PHN003 |
Phenylketonuria |
76 |
0.761 |
|
71 |
|
|
LRN002 |
Laron Syndrome |
63 |
0.761 |
|
72 |
|
|
RFS006 |
Refsum Disease, Classic |
63 |
0.761 |
|
73 |
|
c
|
TYP009 |
Type 2 Diabetes Mellitus |
92 |
0.761 |
|
74 |
|
|
FCS014 |
Fucosidase Regulator |
15 |
0.761 |
|
75 |
|
P
|
HYP750 |
Hypertriglyceridemia, Familial |
62 |
0.761 |
|
76 |
|
|
PBL005 |
Piebald Trait |
59 |
0.761 |
|
77 |
|
|
AMY082 |
Amyloidosis, Familial Visceral |
52 |
0.761 |
|
78 |
|
c
|
BRD014 |
Bardet-Biedl Syndrome 2 |
53 |
0.761 |
|
79 |
|
P
|
GRS003 |
Griscelli Syndrome |
53 |
0.761 |
|
80 |
|
P
|
PRK039 |
Parkinsonism |
55 |
0.761 |
|
81 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
46 |
0.761 |
|
82 |
|
P
|
ZLL001 |
Zellweger Syndrome |
65 |
0.761 |
|
83 |
|
P
|
AMY004 |
Amyloidosis |
70 |
0.761 |
|
84 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.761 |
|
85 |
|
|
VSC003 |
Visceral Leishmaniasis |
55 |
0.761 |
|
86 |
|
|
LSH001 |
Leishmaniasis |
64 |
0.761 |
|
87 |
|
P
|
TRM003 |
Tremor |
48 |
0.761 |
|
88 |
|
|
INC032 |
Inclusion Myopathy |
8 |
0.761 |
|
89 |
|
c
|
PRG106 |
Progressive Muscular Dystrophy |
32 |
0.761 |
|
90 |
|
P
|
BRD002 |
Bardet-Biedl Syndrome |
66 |
0.761 |
|
91 |
|
P
|
BRS044 |
Breast Adenocarcinoma |
58 |
0.761 |
|
92 |
|
|
LNG099 |
Lung Disease |
62 |
0.761 |
|
93 |
|
|
HLX001 |
Helix Syndrome |
48 |
0.761 |
|
94 |
|
|
RCK004 |
Rickets |
68 |
0.761 |
|
95 |
|
c
|
VRL012 |
Viral Meningitis |
46 |
0.761 |
|
96 |
|
P
|
FCL005 |
Focal Segmental Glomerulosclerosis |
57 |
0.761 |
|
97 |
|
P
|
DMN001 |
Diamond-Blackfan Anemia |
71 |
0.761 |
|
98 |
|
|
CHN002 |
Chancroid |
36 |
0.761 |
|
99 |
|
|
NNT012 |
Neonatal Jaundice |
53 |
0.761 |
|
100 |
|
P
|
BND020 |
Bone Disease |
59 |
0.761 |
|
101 |
|
P
|
MCR010 |
Microcephaly |
60 |
0.761 |
|
102 |
|
|
TTN003 |
Tetanus |
65 |
0.761 |
|
103 |
|
c
|
VRL005 |
Viral Pneumonia |
53 |
0.761 |
|
104 |
|
|
HMN009 |
Hemangioblastoma |
54 |
0.761 |
|
105 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
46 |
0.761 |
|
106 |
|
P
|
KDN017 |
Kidney Cancer |
61 |
0.761 |
|
107 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.761 |
|
108 |
|
P
|
HYP121 |
Hypoalphalipoproteinemia |
43 |
0.761 |
|
109 |
|
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
52 |
0.761 |
|
110 |
|
P
|
MNN013 |
Meningitis |
65 |
0.761 |
|
111 |
|
|
DYS032 |
Dystrophinopathies |
47 |
0.761 |
|
112 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
0.761 |
|
113 |
|
|
MCP033 |
Mucopolysaccharidoses |
44 |
0.761 |
|
114 |
|
P
|
HRD086 |
Hereditary Hypophosphatemic Rickets |
40 |
0.761 |
|
115 |
|
|
HYP264 |
Hypertonia |
36 |
0.761 |
|
116 |
|
|
NNT021 |
Neonatal Meningitis |
22 |
0.761 |
|
117 |
|
|
RFS003 |
Refsum Disease, Infantile Form |
27 |
0.761 |
|
118 |
|
|
DWR001 |
Dwarfism |
44 |
0.761 |
|
119 |
|
|
PRN019 |
Perinatal Necrotizing Enterocolitis |
60 |
0.761 |
|