# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
STB003 |
Setbp1 Disorder |
12 |
12.758 |
|
2 |
|
|
SCH037 |
Schinzel-Giedion Midface Retraction Syndrome |
43 |
6.761 |
|
3 |
|
c
|
MNT222 |
Mental Retardation, Autosomal Dominant 29 |
33 |
4.393 |
|
4 |
|
c
|
LKM063 |
Leukemia, Chronic Myeloid |
72 |
4.221 |
|
5 |
|
|
MYL009 |
Myelodysplastic Syndrome |
70 |
4.221 |
|
6 |
|
c
|
JVN004 |
Juvenile Myelomonocytic Leukemia |
67 |
3.681 |
|
7 |
|
|
ATY042 |
Atypical Chronic Myeloid Leukemia |
49 |
3.309 |
|
8 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
3.259 |
|
9 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
3.081 |
|
10 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
2.702 |
|
11 |
|
|
CHR286 |
Chronic Neutrophilic Leukemia |
42 |
2.661 |
|
12 |
|
|
MYL005 |
Myelofibrosis |
70 |
2.589 |
|
13 |
|
|
HYD002 |
Hydronephrosis |
60 |
2.561 |
|
14 |
|
P
|
CHR012 |
Chronic Granulomatous Disease |
67 |
2.528 |
|
15 |
|
|
CHL149 |
Childhood Acute Myeloid Leukemia |
44 |
2.528 |
|
16 |
|
P
|
SLV026 |
Salivary Gland Carcinoma |
57 |
2.489 |
|
17 |
|
|
MXD050 |
Mixed Phenotype Acute Leukemia |
43 |
2.489 |
|
18 |
|
|
SPL018 |
Splenomegaly |
48 |
1.811 |
|
19 |
|
|
INT300 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
12 |
1.811 |
|
20 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
1.760 |
|
21 |
|
|
WST001 |
West Syndrome |
61 |
1.760 |
|
22 |
|
|
MST005 |
Mastitis |
53 |
1.760 |
|
23 |
|
|
NTR018 |
Neutrophilia, Hereditary |
52 |
1.760 |
|
24 |
|
c
|
CHR418 |
Chronic Leukemia |
49 |
1.760 |
|
25 |
|
|
MYL075 |
Myelodysplastic/myeloproliferative Neoplasm |
49 |
1.760 |
|
26 |
|
|
PST049 |
Postaxial Acrofacial Dysostosis |
48 |
1.760 |
|
27 |
|
|
CRB033 |
Cerebral Degeneration |
42 |
1.760 |
|
28 |
|
|
RTT001 |
Ritter's Disease |
41 |
1.760 |
|
29 |
|
|
SLV003 |
Salivary Gland Disease |
41 |
1.760 |
|
30 |
|
P
|
HYP700 |
Hypomyelinating Leukodystrophy |
33 |
1.760 |
|
31 |
|
|
RFR009 |
Refractory Cytopenia with Multilineage Dysplasia |
31 |
1.760 |
|
32 |
|
|
STP002 |
Staphyloenterotoxemia |
28 |
1.760 |
|
33 |
|
|
CMM006 |
Commensal Bacterial Infectious Disease |
27 |
1.760 |
|
34 |
|
c
|
SPS013 |
Spastic Paraplegia 8 |
25 |
1.760 |
|
35 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.265 |
|
36 |
|
P
|
LKM002 |
Leukemia |
68 |
0.210 |
|
37 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.202 |
|
38 |
|
|
MYL031 |
Myeloproliferative Neoplasm |
66 |
0.122 |
|
39 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.105 |
|
40 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.086 |
|
41 |
|
P
|
FTL069 |
Fetal Akinesia Deformation Sequence 1 |
64 |
0.086 |
|
42 |
|
P
|
DST002 |
Distal Arthrogryposis |
63 |
0.086 |
|
43 |
|
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
61 |
0.086 |
|
44 |
|
P
|
ATR010 |
Atrial Heart Septal Defect |
60 |
0.086 |
|
45 |
|
|
ACT193 |
Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) |
54 |
0.086 |
|
46 |
|
P
|
NLD001 |
Nail Disease |
54 |
0.086 |
|
47 |
|
P
|
TRT010 |
Teratoma |
52 |
0.086 |
|
48 |
|
P
|
HYP077 |
Hypertrichosis |
50 |
0.086 |
|
49 |
|
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
46 |
0.086 |
|
50 |
|
|
INT276 |
Interatrial Communication |
42 |
0.086 |
|
51 |
|
P
|
CRB088 |
Cerebral Atrophy |
37 |
0.086 |
|
52 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.061 |
|
53 |
|
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
81 |
0.061 |
|
54 |
|
P
|
LYN001 |
Lynch Syndrome |
77 |
0.061 |
|
55 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.061 |
|
56 |
|
c
|
SPN225 |
Spondyloarthropathy 1 |
73 |
0.061 |
|
57 |
|
P
|
EPL164 |
Epilepsy |
71 |
0.061 |
|
58 |
|
P
|
ATS364 |
Autism |
70 |
0.061 |
|
59 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.061 |
|
60 |
|
P
|
ANG001 |
Angelman Syndrome |
69 |
0.061 |
|
61 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
0.061 |
|
62 |
|
|
AND002 |
Androgen Insensitivity Syndrome |
66 |
0.061 |
|
63 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.061 |
|
64 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
0.061 |
|
65 |
|
|
BRR014 |
Barrett Esophagus |
65 |
0.061 |
|
66 |
|
P
|
SHR029 |
Short Syndrome |
63 |
0.061 |
|
67 |
|
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
62 |
0.061 |
|
68 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
0.061 |
|
69 |
|
P
|
TRC086 |
Trichohepatoenteric Syndrome 1 |
62 |
0.061 |
|
70 |
|
|
MRT001 |
Muir-Torre Syndrome |
60 |
0.061 |
|
71 |
|
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
59 |
0.061 |
|
72 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
0.061 |
|
73 |
|
|
CRZ002 |
Crouzon Syndrome with Acanthosis Nigricans |
58 |
0.061 |
|
74 |
|
|
GRN051 |
Granulomatous Disease, Chronic, X-Linked |
57 |
0.061 |
|
75 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
0.061 |
|
76 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.061 |
|
77 |
|
P
|
ART153 |
Arthrochalasia Ehlers-Danlos Syndrome |
55 |
0.061 |
|
78 |
|
P
|
CNT116 |
Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a |
54 |
0.061 |
|
79 |
|
|
THR013 |
Thoracic Outlet Syndrome |
54 |
0.061 |
|
80 |
|
|
PNC001 |
Pancytopenia |
54 |
0.061 |
|
81 |
|
P
|
PTS002 |
Ptosis |
53 |
0.061 |
|
82 |
|
c
|
TRC092 |
Trichorhinophalangeal Syndrome, Type I |
52 |
0.061 |
|
83 |
|
|
LYM004 |
Lymphoid Interstitial Pneumonia |
51 |
0.061 |
|
84 |
|
|
PLS009 |
Plasma Cell Neoplasm |
51 |
0.061 |
|
85 |
|
|
LPD016 |
Lipoid Proteinosis of Urbach and Wiethe |
50 |
0.061 |
|
86 |
|
|
BKR002 |
Baker-Gordon Syndrome |
49 |
0.061 |
|
87 |
|
c
|
FNC028 |
Fanconi Anemia, Complementation Group L |
49 |
0.061 |
|
88 |
|
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
48 |
0.061 |
|
89 |
|
|
PRC049 |
Precursor T-Cell Acute Lymphoblastic Leukemia |
48 |
0.061 |
|
90 |
|
c
|
HYD064 |
Hydrocephalus, Congenital, 1 |
48 |
0.061 |
|
91 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.061 |
|
92 |
|
c
|
CHR682 |
Chronic Bilirubin Encephalopathy |
39 |
0.061 |
|
93 |
|
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
36 |
0.061 |
|
94 |
|
|
ALR002 |
Al-Raqad Syndrome |
33 |
0.061 |
|
95 |
|
|
MYC088 |
Mycobacterium Avium Complex Infections |
29 |
0.061 |
|
96 |
|
|
AND005 |
Androgen Insensitivity Syndrome, Mild |
19 |
0.061 |
|
97 |
|
|
CNG330 |
Congenital Megacalycosis |
16 |
0.061 |
|