# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
ALP100 |
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked |
66 |
18.127 |
|
2 |
|
|
ALP095 |
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
45 |
15.034 |
|
3 |
|
P
|
THL005 |
Thalassemia |
60 |
4.846 |
|
4 |
|
c
|
ALP101 |
Alpha-Thalassemia |
62 |
4.637 |
|
5 |
|
|
MNT309 |
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 |
42 |
4.490 |
|
6 |
|
|
ALP013 |
Alpha-Thalassemia Myelodysplasia Syndrome |
29 |
4.012 |
|
7 |
|
P
|
MCR010 |
Microcephaly |
59 |
3.628 |
|
8 |
|
|
MYL009 |
Myelodysplastic Syndrome |
70 |
2.781 |
|
9 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
2.357 |
|
10 |
|
P
|
OLG002 |
Oligodendroglioma |
67 |
2.357 |
|
11 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
2.295 |
|
12 |
|
P
|
LMY004 |
Leiomyosarcoma |
63 |
2.295 |
|
13 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
2.277 |
|
14 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
2.259 |
|
15 |
|
P
|
RTT002 |
Rett Syndrome |
80 |
2.195 |
|
16 |
|
P
|
PHC003 |
Pheochromocytoma |
71 |
2.195 |
|
17 |
|
P
|
BRC006 |
Brachydactyly |
53 |
2.169 |
|
18 |
|
P
|
GND004 |
Gonadal Dysgenesis |
48 |
2.169 |
|
19 |
|
P
|
SYN057 |
Syndromic Intellectual Disability |
41 |
2.169 |
|
20 |
|
P
|
ATS364 |
Autism |
70 |
2.140 |
|
21 |
|
|
ATY005 |
Atypical Teratoid Rhabdoid Tumor |
61 |
2.140 |
|
22 |
|
|
XRD010 |
Xeroderma Pigmentosum, Variant Type |
73 |
2.106 |
|
23 |
|
P
|
HMG032 |
Hemoglobin H Disease |
52 |
2.106 |
|
24 |
|
P
|
CHR573 |
Choroid Plexus Cancer |
46 |
2.106 |
|
25 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
1.898 |
|
26 |
|
|
GRD007 |
Grade Iii Astrocytoma |
59 |
1.705 |
|
27 |
|
c
|
FNC027 |
Fanconi Anemia, Complementation Group a |
81 |
1.568 |
|
28 |
|
|
BRN032 |
Brain Glioma |
45 |
1.568 |
|
29 |
|
|
FBR008 |
Fibrillary Astrocytoma |
51 |
1.534 |
|
30 |
|
|
PLM020 |
Pleomorphic Xanthoastrocytoma |
41 |
1.534 |
|
31 |
|
|
MNT058 |
Mental Retardation, X-Linked, Syndromic, Turner Type |
41 |
1.534 |
|
32 |
|
|
GST004 |
Gastric Neuroendocrine Neoplasm |
37 |
1.534 |
|
33 |
|
|
ADL053 |
Adult Astrocytic Tumour |
33 |
1.534 |
|
34 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
1.489 |
|
35 |
|
P
|
LFR001 |
Li-Fraumeni Syndrome |
72 |
1.489 |
|
36 |
|
c
|
MLT156 |
Multiple Endocrine Neoplasia, Type I |
72 |
1.489 |
|
37 |
|
P
|
CRN015 |
Cornelia De Lange Syndrome |
64 |
1.489 |
|
38 |
|
c
|
HYP794 |
Hyperoxaluria, Primary, Type I |
63 |
1.489 |
|
39 |
|
P
|
PRM002 |
Primary Hyperoxaluria |
62 |
1.489 |
|
40 |
|
P
|
STS008 |
Sotos Syndrome 1 |
61 |
1.489 |
|
41 |
|
|
CFF002 |
Coffin-Lowry Syndrome |
60 |
1.489 |
|
42 |
|
|
WVR001 |
Weaver Syndrome |
59 |
1.489 |
|
43 |
|
|
ENC044 |
Enchondromatosis, Multiple, Ollier Type |
57 |
1.489 |
|
44 |
|
|
FLT006 |
Floating-Harbor Syndrome |
55 |
1.489 |
|
45 |
|
|
GLS001 |
Gliosarcoma |
54 |
1.489 |
|
46 |
|
P
|
BRN035 |
Brain Stem Glioma |
52 |
1.489 |
|
47 |
|
|
SPS003 |
Spastic Diplegia |
51 |
1.489 |
|
48 |
|
|
GNT002 |
Giant Cell Glioblastoma |
50 |
1.489 |
|
49 |
|
|
MLT145 |
Multiple Enchondromatosis, Maffucci Type |
49 |
1.489 |
|
50 |
|
|
IMM011 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
47 |
1.489 |
|
51 |
|
|
CNT033 |
Central Nervous System Cancer |
47 |
1.489 |
|
52 |
|
|
MXD026 |
Mixed Glioma |
45 |
1.489 |
|
53 |
|
|
SPN369 |
Spinal Disease |
43 |
1.489 |
|
54 |
|
|
PLM021 |
Pilomyxoid Astrocytoma |
43 |
1.489 |
|
55 |
|
c
|
RTN047 |
Retinitis Pigmentosa 18 |
42 |
1.489 |
|
56 |
|
|
BRN048 |
Brain Stem Cancer |
37 |
1.489 |
|
57 |
|
c
|
ATS203 |
Autosomal Dominant Non-Syndromic Intellectual Disability |
36 |
1.489 |
|
58 |
|
c
|
MYS049 |
Myasthenic Syndrome, Congenital, 3b, Fast-Channel |
36 |
1.489 |
|
59 |
|
|
CHL057 |
Childhood Brain Stem Glioma |
32 |
1.489 |
|
60 |
|
|
MXD012 |
Mixed Oligodendroglioma-Astrocytoma |
32 |
1.489 |
|
61 |
|
|
SPC003 |
Specific Developmental Disorder |
31 |
1.489 |
|
62 |
|
|
CHL006 |
Childhood Oligodendroglioma |
31 |
1.489 |
|
63 |
|
|
SPN007 |
Spinal Cord Oligodendroglioma |
30 |
1.489 |
|
64 |
|
|
CRB038 |
Cerebral Ventricle Cancer |
28 |
1.489 |
|
65 |
|
|
CNT109 |
Central Nervous System Benign Neoplasm |
28 |
1.489 |
|
66 |
|
|
TMP002 |
Temporal Lobe Neoplasm |
27 |
1.489 |
|
67 |
|
|
CRB040 |
Cerebrum Cancer |
26 |
1.489 |
|
68 |
|
c
|
ATS009 |
Autosomal Genetic Disease |
25 |
1.489 |
|
69 |
|
|
SYN090 |
Syndromic X-Linked Intellectual Disability Turner Type |
25 |
1.489 |
|
70 |
|
|
ALP094 |
Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
25 |
1.489 |
|
71 |
|
|
CHR052 |
Chronic Fungal Otitis Externa |
8 |
1.489 |
|
72 |
|
P
|
ATS366 |
Autism X-Linked 2 |
42 |
0.319 |
|
73 |
|
P
|
GLM045 |
Glioma |
63 |
0.264 |
|
74 |
|
|
GLL048 |
Glial Tumor |
45 |
0.264 |
|
75 |
|
P
|
AST007 |
Astrocytoma |
51 |
0.253 |
|
76 |
|
|
OLG006 |
Oligoastrocytoma |
35 |
0.132 |
|
77 |
|
|
ANG020 |
Angiosarcoma |
64 |
0.121 |
|
78 |
|
|
ISL001 |
Islet Cell Tumor |
56 |
0.121 |
|
79 |
|
P
|
LPS002 |
Liposarcoma |
65 |
0.108 |
|
80 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
0.108 |
|
81 |
|
|
NRN004 |
Neuroendocrine Tumor |
55 |
0.108 |
|
82 |
|
|
JVN009 |
Juvenile Pilocytic Astrocytoma |
55 |
0.108 |
|
83 |
|
P
|
RHB008 |
Rhabdoid Tumor Predisposition Syndrome 1 |
65 |
0.093 |
|
84 |
|
|
SFT003 |
Soft Tissue Sarcoma |
56 |
0.093 |
|
85 |
|
P
|
PRG013 |
Paraganglioma |
52 |
0.093 |
|
86 |
|
|
DDF001 |
Dedifferentiated Liposarcoma |
48 |
0.093 |
|
87 |
|
|
ADR040 |
Adrenal Gland Pheochromocytoma |
46 |
0.093 |
|
88 |
|
c
|
MLG068 |
Malignant Glioma |
46 |
0.093 |
|
89 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.093 |
|
90 |
|
|
MNT028 |
Mental Retardation Smith Fineman Myers Type |
15 |
0.093 |
|
91 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.076 |
|
92 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.076 |
|
93 |
|
|
ADN018 |
Adenoma |
59 |
0.076 |
|
94 |
|
c
|
FNC042 |
Fanconi Anemia, Complementation Group D2 |
56 |
0.076 |
|
95 |
|
|
LBS001 |
Lubs X-Linked Mental Retardation Syndrome |
51 |
0.076 |
|
96 |
|
|
DWR001 |
Dwarfism |
44 |
0.076 |
|
97 |
|
|
HYP001 |
Hypochromic Microcytic Anemia |
38 |
0.076 |
|
98 |
|
c
|
ANM035 |
Anemia, Hypochromic Microcytic, with Iron Overload 1 |
38 |
0.076 |
|
99 |
|
|
PRM329 |
Premature Aging |
35 |
0.076 |
|
100 |
|
|
HGH041 |
High-Grade Astrocytoma |
32 |
0.076 |
|
101 |
|
c
|
BCL018 |
Bcl11a-Related Intellectual Disability |
15 |
0.076 |
|
102 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.054 |
|
103 |
|
|
NRL016 |
Neural Tube Defects |
82 |
0.054 |
|
104 |
|
|
OST012 |
Osteoarthritis |
78 |
0.054 |
|
105 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.054 |
|
106 |
|
c
|
BTT014 |
Beta-Thalassemia |
74 |
0.054 |
|
107 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.054 |
|
108 |
|
c
|
LKM063 |
Leukemia, Chronic Myeloid |
72 |
0.054 |
|
109 |
|
P
|
EPL164 |
Epilepsy |
71 |
0.054 |
|
110 |
|
P
|
FRG001 |
Fragile X Syndrome |
70 |
0.054 |
|
111 |
|
P
|
MLN008 |
Melanoma |
69 |
0.054 |
|
112 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.054 |
|
113 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.054 |
|
114 |
|
P
|
DYS154 |
Dystonia |
65 |
0.054 |
|
115 |
|
|
NRF007 |
Neurofibroma |
64 |
0.054 |
|
116 |
|
c
|
MLG084 |
Malignant Fibrous Histiocytoma |
63 |
0.054 |
|
117 |
|
P
|
MVM001 |
Movement Disease |
63 |
0.054 |
|
118 |
|
|
RHB001 |
Rhabdoid Cancer |
63 |
0.054 |
|
119 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.054 |
|
120 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.054 |
|
121 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.054 |
|
122 |
|
P
|
BNG030 |
Benign Ependymoma |
60 |
0.054 |
|
123 |
|
P
|
CTR002 |
Cataract |
60 |
0.054 |
|
124 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
0.054 |
|
125 |
|
|
IRN002 |
Iron Metabolism Disease |
57 |
0.054 |
|
126 |
|
P
|
CHN012 |
Chondrosarcoma |
56 |
0.054 |
|
127 |
|
P
|
PLY011 |
Polycystic Ovary Syndrome |
56 |
0.054 |
|
128 |
|
P
|
MLT074 |
Multiple Endocrine Neoplasia |
56 |
0.054 |
|
129 |
|
|
HMG005 |
Hemoglobinopathy |
56 |
0.054 |
|
130 |
|
P
|
NRF002 |
Neurofibromatosis |
56 |
0.054 |
|
131 |
|
P
|
PTT006 |
Pituitary Adenoma |
55 |
0.054 |
|
132 |
|
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
55 |
0.054 |
|
133 |
|
|
CLL010 |
Cellular Ependymoma |
54 |
0.054 |
|
134 |
|
c
|
MLN055 |
Melanoma, Cutaneous Malignant 10 |
52 |
0.054 |
|
135 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.054 |
|
136 |
|
|
HYP748 |
Hypertelorism |
50 |
0.054 |
|
137 |
|
P
|
PNB001 |
Pineoblastoma |
50 |
0.054 |
|
138 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.054 |
|
139 |
|
P
|
MYC033 |
Myoclonus |
46 |
0.054 |
|
140 |
|
P
|
DSR089 |
Disorders of Sexual Development |
45 |
0.054 |
|
141 |
|
|
END035 |
Endocrine Gland Cancer |
45 |
0.054 |
|
142 |
|
P
|
EPT012 |
Epithelioid Sarcoma |
44 |
0.054 |
|
143 |
|
|
PTT037 |
Pituitary Tumors |
44 |
0.054 |
|
144 |
|
|
MCR017 |
Macrocytic Anemia |
44 |
0.054 |
|
145 |
|
|
ANP009 |
Anaplastic Oligodendroglioma |
43 |
0.054 |
|
146 |
|
|
PLM019 |
Pleomorphic Liposarcoma |
43 |
0.054 |
|
147 |
|
P
|
EPT020 |
Epithelioid Hemangioendothelioma |
43 |
0.054 |
|
148 |
|
|
HTR014 |
Heterotaxy, Visceral, 1, X-Linked |
40 |
0.054 |
|
149 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.054 |
|
150 |
|
|
LWG005 |
Low-Grade Astrocytoma |
38 |
0.054 |
|
151 |
|
c
|
MLG157 |
Malignant Pheochromocytoma |
38 |
0.054 |
|
152 |
|
|
SMT002 |
Smooth Muscle Tumor |
38 |
0.054 |
|
153 |
|
|
HMN016 |
Hemangioendothelioma |
34 |
0.054 |
|
154 |
|
|
ANP008 |
Anaplastic Oligoastrocytoma |
30 |
0.054 |
|
155 |
|
|
PNL002 |
Pineal Parenchymal Tumor of Intermediate Differentiation |
25 |
0.054 |
|
156 |
|
|
PHL007 |
Philadelphia-Negative Chronic Myeloid Leukemia |
18 |
0.054 |
|