# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
SCH018 |
Schizencephaly |
52 |
43.864 |
|
2 |
|
P
|
END044 |
Endometriosis |
62 |
16.569 |
|
3 |
|
P
|
MCR010 |
Microcephaly |
60 |
11.815 |
|
4 |
|
P
|
MCK013 |
Meckel Syndrome, Type 1 |
64 |
10.792 |
|
5 |
|
c
|
VSC019 |
Vesicoureteral Reflux 1 |
57 |
9.704 |
|
6 |
|
P
|
PRV002 |
Periventricular Nodular Heterotopia |
52 |
9.078 |
|
7 |
|
P
|
BND018 |
Band Heterotopia |
53 |
8.952 |
|
8 |
|
|
BLT024 |
Bilateral Renal Aplasia |
18 |
8.466 |
|
9 |
|
|
DSS008 |
Disease of Mental Health |
74 |
8.465 |
|
10 |
|
P
|
HLP001 |
Holoprosencephaly |
69 |
8.222 |
|
11 |
|
|
ADR049 |
Adrenal Hypoplasia, Congenital |
53 |
7.631 |
|
12 |
|
|
PRX093 |
Preaxial Deficiency, Postaxial Polydactyly, and Hypospadias |
34 |
7.631 |
|
13 |
|
P
|
RNL100 |
Renal Hypodysplasia/aplasia 1 |
63 |
7.631 |
|
14 |
|
P
|
PRN026 |
Porencephaly |
55 |
7.631 |
|
15 |
|
P
|
KLL001 |
Kallmann Syndrome |
65 |
7.631 |
|
16 |
|
|
PDT015 |
Pediatric Supratentorial Ependymoma |
25 |
7.631 |
|
17 |
|
|
LTR005 |
Lateral Displacement of Eye |
16 |
7.631 |
|
18 |
|
|
END057 |
Endometrial Cancer |
72 |
3.878 |
|
19 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
3.706 |
|
20 |
|
|
GLB002 |
Glioblastoma |
67 |
3.571 |
|
21 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
68 |
3.034 |
|
22 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
2.883 |
|
23 |
|
P
|
UTR058 |
Uterine Anomalies |
46 |
2.799 |
|
24 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
2.799 |
|
25 |
|
|
BRN015 |
Bronchiolo-Alveolar Adenocarcinoma |
55 |
2.799 |
|
26 |
|
|
CLR109 |
Colorectal Adenocarcinoma |
50 |
2.712 |
|
27 |
|
P
|
GST053 |
Gastric Cancer |
83 |
2.621 |
|
28 |
|
|
MLG079 |
Malignant Pleural Mesothelioma |
42 |
2.525 |
|
29 |
|
P
|
BNG032 |
Benign Mesothelioma |
53 |
2.525 |
|
30 |
|
|
SPT023 |
Septate Uterus |
30 |
2.315 |
|
31 |
|
P
|
MYR002 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
60 |
2.199 |
|
32 |
|
P
|
HYP040 |
Hypospadias |
51 |
2.199 |
|
33 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
2.073 |
|
34 |
|
P
|
BND020 |
Bone Disease |
59 |
2.073 |
|
35 |
|
P
|
GND004 |
Gonadal Dysgenesis |
47 |
2.073 |
|
36 |
|
|
CKT002 |
Cakut |
47 |
1.934 |
|
37 |
|
|
BRN139 |
Brain Small Vessel Disease 1 with or Without Ocular Anomalies |
45 |
1.934 |
|
38 |
|
|
URN010 |
Urinary Tract Obstruction |
55 |
1.934 |
|
39 |
|
|
HYP080 |
Hypogonadism |
50 |
1.934 |
|
40 |
|
|
NRL016 |
Neural Tube Defects |
81 |
1.917 |
|
41 |
|
|
THY029 |
Thyroid Carcinoma |
51 |
1.773 |
|
42 |
|
|
PLY183 |
Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome |
41 |
1.563 |
|
43 |
|
|
PLY024 |
Polymicrogyria |
47 |
1.563 |
|
44 |
|
c
|
HLP023 |
Holoprosencephaly 1 |
56 |
1.447 |
|
45 |
|
c
|
LSS005 |
Lissencephaly 1 |
57 |
1.447 |
|
46 |
|
P
|
LSS002 |
Lissencephaly |
50 |
1.447 |
|
47 |
|
|
DFC004 |
Deficiency Anemia |
74 |
1.447 |
|
48 |
|
P
|
PLY006 |
Polydactyly |
59 |
1.447 |
|
49 |
|
|
HLX001 |
Helix Syndrome |
48 |
1.343 |
|
50 |
|
P
|
LSS024 |
Lissencephaly with Cerebellar Hypoplasia |
36 |
1.321 |
|
51 |
|
P
|
LSS036 |
Lissencephaly, X-Linked, 1 |
47 |
1.321 |
|
52 |
|
|
WST001 |
West Syndrome |
59 |
1.321 |
|
53 |
|
P
|
CRB045 |
Cerebellar Hypoplasia |
40 |
1.321 |
|
54 |
|
|
PLY161 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
42 |
1.321 |
|
55 |
|
|
FCL014 |
Focal Epilepsy |
53 |
1.321 |
|
56 |
|
|
PCH002 |
Pachygyria |
32 |
1.321 |
|
57 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
1.182 |
|
58 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
28 |
1.182 |
|
59 |
|
P
|
SZR006 |
Seizure Disorder |
70 |
1.180 |
|
60 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
1.061 |
|
61 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
1.023 |
|
62 |
|
|
END062 |
Endometrial Hyperplasia |
48 |
1.023 |
|
63 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
1.023 |
|
64 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
64 |
1.023 |
|
65 |
|
|
GLL048 |
Glial Tumor |
52 |
1.023 |
|
66 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
1.023 |
|
67 |
|
P
|
TBR001 |
Tuberous Sclerosis |
69 |
1.023 |
|
68 |
|
P
|
TRT010 |
Teratoma |
51 |
1.023 |
|
69 |
|
P
|
HYP265 |
Hypotonia |
42 |
1.023 |
|
70 |
|
|
GLM045 |
Glioma |
63 |
1.023 |
|
71 |
|
P
|
RTT002 |
Rett Syndrome |
79 |
0.836 |
|
72 |
|
|
PLV015 |
Pelvis-Shoulder Dysplasia |
21 |
0.836 |
|
73 |
|
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
43 |
0.836 |
|
74 |
|
|
LNN001 |
Lennox-Gastaut Syndrome |
61 |
0.836 |
|
75 |
|
|
DST008 |
Diastematomyelia |
31 |
0.836 |
|
76 |
|
c
|
KLP007 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
34 |
0.836 |
|
77 |
|
|
CRP030 |
Corpus Callosum, Agenesis of, with Facial Anomalies and Cerebellar Ataxia |
37 |
0.836 |
|
78 |
|
P
|
SCL018 |
Scoliosis |
57 |
0.836 |
|
79 |
|
|
RNL078 |
Renal Dysplasia |
46 |
0.836 |
|
80 |
|
|
DYS004 |
Dyscalculia |
35 |
0.836 |
|
81 |
|
|
ISL096 |
Isolated Klippel-Feil Syndrome |
34 |
0.836 |
|
82 |
|
|
DYS018 |
Dysostosis |
44 |
0.836 |
|
83 |
|
|
TST014 |
Testicular Cancer |
52 |
0.836 |
|
84 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.836 |
|
85 |
|
|
NRN016 |
Neuronal Migration Disorders |
40 |
0.836 |
|
86 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.753 |
|
87 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
55 |
0.591 |
|
88 |
|
|
PRC049 |
Precursor T-Cell Acute Lymphoblastic Leukemia |
45 |
0.591 |
|
89 |
|
c
|
MSC037 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 |
60 |
0.591 |
|
90 |
|
c
|
46X049 |
46,xy Sex Reversal 2 |
49 |
0.591 |
|
91 |
|
|
CRV035 |
Cervical Cancer |
73 |
0.591 |
|
92 |
|
c
|
HLP024 |
Holoprosencephaly 2 |
49 |
0.591 |
|
93 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
33 |
0.591 |
|
94 |
|
|
RSP008 |
Respiratory Rhythmicity in Sleep |
18 |
0.591 |
|
95 |
|
|
AGN018 |
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome |
57 |
0.591 |
|
96 |
|
|
MNT001 |
Mantle Cell Lymphoma |
67 |
0.591 |
|
97 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
54 |
0.591 |
|
98 |
|
|
HMN047 |
Human Cytomegalovirus Infection |
57 |
0.591 |
|
99 |
|
P
|
LYM118 |
Lymphoma |
67 |
0.591 |
|
100 |
|
c
|
CNG006 |
Congenital Hypothyroidism |
63 |
0.591 |
|
101 |
|
c
|
RTN041 |
Retinitis Pigmentosa 11 |
42 |
0.591 |
|
102 |
|
|
CRP032 |
Corpus Callosum, Agenesis of |
49 |
0.591 |
|
103 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
0.591 |
|
104 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.591 |
|
105 |
|
c
|
MSC165 |
Muscular Dystrophy, Congenital, Lmna-Related |
65 |
0.591 |
|
106 |
|
|
MLL018 |
Miller-Dieker Lissencephaly Syndrome |
52 |
0.591 |
|
107 |
|
|
HYP780 |
Hypoadrenocorticism, Familial |
61 |
0.591 |
|
108 |
|
c
|
WLM013 |
Wilms Tumor 1 |
66 |
0.591 |
|
109 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
0.591 |
|
110 |
|
|
CLB010 |
Coloboma of Macula |
53 |
0.591 |
|
111 |
|
|
GLB021 |
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies |
38 |
0.591 |
|
112 |
|
P
|
FLL037 |
Follicular Lymphoma |
74 |
0.591 |
|
113 |
|
|
CNT114 |
Central Nervous System Malformation |
13 |
0.591 |
|
114 |
|
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
53 |
0.591 |
|
115 |
|
P
|
PLY041 |
Polymyositis |
59 |
0.591 |
|
116 |
|
|
PSD001 |
Pseudobulbar Palsy |
38 |
0.591 |
|
117 |
|
P
|
BCL017 |
B-Cell Lymphoma |
59 |
0.591 |
|
118 |
|
P
|
MYP004 |
Myopathy |
67 |
0.591 |
|
119 |
|
|
INT075 |
Intracranial Hypertension |
53 |
0.591 |
|
120 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
0.591 |
|
121 |
|
P
|
VNT002 |
Ventricular Septal Defect |
58 |
0.591 |
|
122 |
|
|
HRT011 |
Heart Septal Defect |
49 |
0.591 |
|
123 |
|
|
END086 |
End Stage Renal Disease |
52 |
0.591 |
|
124 |
|
P
|
DRM010 |
Dermatomyositis |
61 |
0.591 |
|
125 |
|
|
WSS006 |
Weiss-Kruszka Syndrome |
29 |
0.591 |
|
126 |
|
|
SYN005 |
Synostosis |
43 |
0.591 |
|
127 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.591 |
|
128 |
|
P
|
HYD006 |
Hydrocephalus |
61 |
0.591 |
|
129 |
|
|
MCR013 |
Microphthalmia |
60 |
0.591 |
|
130 |
|
P
|
INF032 |
Infertility |
57 |
0.591 |
|
131 |
|
P
|
SLP005 |
Sleep Disorder |
61 |
0.591 |
|
132 |
|
|
TCL027 |
T-Cell Acute Lymphoblastic Leukemia |
51 |
0.591 |
|
133 |
|
|
GST045 |
Gastroenteritis |
58 |
0.591 |
|
134 |
|
|
CHL028 |
Childhood Type Dermatomyositis |
59 |
0.591 |
|
135 |
|
|
PFH001 |
Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia |
17 |
0.591 |
|
136 |
|
|
DCX001 |
Dcx-Related Disorders |
10 |
0.591 |
|
137 |
|
c
|
FLN007 |
Flna-Related Periventricular Nodular Heterotopia |
28 |
0.591 |
|
138 |
|
|
JVN046 |
Juvenile Polymyositis |
17 |
0.591 |
|
139 |
|
P
|
FBR031 |
Febrile Seizures |
52 |
0.591 |
|
140 |
|
|
10Q004 |
10q26 Deletion Syndrome |
13 |
0.591 |
|
141 |
|
|
PNS014 |
Penis Agenesis |
36 |
0.591 |
|
142 |
|
|
BLT007 |
Bilateral Frontal Polymicrogyria |
18 |
0.591 |
|
143 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.533 |
|
144 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
0.533 |
|
145 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.533 |
|
146 |
|
|
SZR001 |
Sezary's Disease |
60 |
0.533 |
|