# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
LSS030 |
Lissencephaly 7 with Cerebellar Hypoplasia |
21 |
4.481 |
|
2 |
|
P
|
LNG032 |
Lung Cancer |
98 |
4.421 |
|
3 |
|
P
|
LSS002 |
Lissencephaly |
51 |
4.421 |
|
4 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
4.136 |
|
5 |
|
|
ISC004 |
Ischemia |
58 |
3.670 |
|
6 |
|
P
|
CRB045 |
Cerebellar Hypoplasia |
41 |
3.596 |
|
7 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
3.268 |
|
8 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
3.148 |
|
9 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
2.890 |
|
10 |
|
P
|
SPR120 |
Supranuclear Palsy, Progressive, 1 |
68 |
2.571 |
|
11 |
|
|
DMN031 |
Dementia, Lewy Body |
65 |
2.543 |
|
12 |
|
P
|
MTR014 |
Motor Neuron Disease |
65 |
2.543 |
|
13 |
|
|
TRN015 |
Transient Cerebral Ischemia |
63 |
2.543 |
|
14 |
|
P
|
NPH005 |
Nephronophthisis |
59 |
2.543 |
|
15 |
|
P
|
SYN057 |
Syndromic Intellectual Disability |
41 |
2.543 |
|
16 |
|
P
|
DYS005 |
Dyslexia |
40 |
2.543 |
|
17 |
|
P
|
NNS031 |
Non-Syndromic Intellectual Disability |
32 |
2.543 |
|
18 |
|
P
|
SCH015 |
Schizophrenia |
74 |
2.510 |
|
19 |
|
|
MLT157 |
Multiple System Atrophy 1 |
70 |
2.510 |
|
20 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
2.510 |
|
21 |
|
|
SCR011 |
Scrapie |
39 |
2.510 |
|
22 |
|
P
|
LSS024 |
Lissencephaly with Cerebellar Hypoplasia |
36 |
1.850 |
|
23 |
|
|
PCK003 |
Pick Disease of Brain |
68 |
1.818 |
|
24 |
|
P
|
BND018 |
Band Heterotopia |
53 |
1.775 |
|
25 |
|
|
TXC002 |
Toxic Encephalopathy |
53 |
1.775 |
|
26 |
|
c
|
PRM031 |
Primary Autosomal Recessive Microcephaly |
47 |
1.775 |
|
27 |
|
|
ANR009 |
Aneurysmal Bone Cysts |
43 |
1.775 |
|
28 |
|
c
|
ALZ045 |
Alzheimer Disease 9 |
43 |
1.775 |
|
29 |
|
P
|
LTR001 |
Lateral Sclerosis |
54 |
0.258 |
|
30 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.126 |
|
31 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.126 |
|
32 |
|
c
|
FML008 |
Familial Retinoblastoma |
53 |
0.126 |
|
33 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.126 |
|
34 |
|
|
STR067 |
Stroke, Ischemic |
81 |
0.115 |
|
35 |
|
c
|
LSS005 |
Lissencephaly 1 |
56 |
0.115 |
|
36 |
|
P
|
FRN006 |
Frontotemporal Dementia |
68 |
0.103 |
|
37 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.103 |
|
38 |
|
P
|
CHR345 |
Chronic Pain |
44 |
0.103 |
|
39 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.089 |
|
40 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.089 |
|
41 |
|
|
ANX010 |
Anxiety |
73 |
0.089 |
|
42 |
|
|
ALC007 |
Alcohol Dependence |
66 |
0.089 |
|
43 |
|
|
INS001 |
Insulinoma |
60 |
0.089 |
|
44 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.073 |
|
45 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.073 |
|
46 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.073 |
|
47 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.073 |
|
48 |
|
P
|
ATX030 |
Ataxia-Telangiectasia |
82 |
0.073 |
|
49 |
|
|
CRV035 |
Cervical Cancer |
76 |
0.073 |
|
50 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.073 |
|
51 |
|
P
|
WSK001 |
Wiskott-Aldrich Syndrome |
72 |
0.073 |
|
52 |
|
|
THY111 |
Thyroid Carcinoma, Familial Medullary |
67 |
0.073 |
|
53 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.073 |
|
54 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
66 |
0.073 |
|
55 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
0.073 |
|
56 |
|
c
|
WLM013 |
Wilms Tumor 1 |
65 |
0.073 |
|
57 |
|
P
|
GLM045 |
Glioma |
63 |
0.073 |
|
58 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.073 |
|
59 |
|
c
|
WLM018 |
Wilms Tumor 5 |
61 |
0.073 |
|
60 |
|
|
THY029 |
Thyroid Carcinoma |
59 |
0.073 |
|
61 |
|
|
ADN018 |
Adenoma |
59 |
0.073 |
|
62 |
|
P
|
GLM007 |
Glomerulonephritis |
57 |
0.073 |
|
63 |
|
P
|
FTL001 |
Fetal Alcohol Syndrome |
57 |
0.073 |
|
64 |
|
|
GLC003 |
Glucose Intolerance |
54 |
0.073 |
|
65 |
|
c
|
MCR113 |
Microvascular Complications of Diabetes 3 |
52 |
0.073 |
|
66 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.073 |
|
67 |
|
|
TLN003 |
Telangiectasis |
52 |
0.073 |
|
68 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.073 |
|
69 |
|
c
|
HRD202 |
Hereditary Lymphedema I |
50 |
0.073 |
|
70 |
|
|
THY125 |
Thyroid Gland Medullary Carcinoma |
50 |
0.073 |
|
71 |
|
|
BRN071 |
Brain Injury |
49 |
0.073 |
|
72 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.073 |
|
73 |
|
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
0.073 |
|
74 |
|
|
GLL048 |
Glial Tumor |
45 |
0.073 |
|
75 |
|
c
|
MCR248 |
Microcephaly 3, Primary, Autosomal Recessive |
44 |
0.073 |
|
76 |
|
c
|
FTL006 |
Fetal Alcohol Spectrum Disorder |
43 |
0.073 |
|
77 |
|
c
|
MCR130 |
Microvascular Complications of Diabetes 6 |
41 |
0.073 |
|
78 |
|
c
|
MCR133 |
Microvascular Complications of Diabetes 4 |
41 |
0.073 |
|
79 |
|
|
SPS226 |
Spastic Paraplegia, Ataxia, and Mental Retardation |
37 |
0.073 |
|
80 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.052 |
|
81 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.052 |
|
82 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
0.052 |
|
83 |
|
|
NRL016 |
Neural Tube Defects |
82 |
0.052 |
|
84 |
|
P
|
RTT002 |
Rett Syndrome |
80 |
0.052 |
|
85 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
0.052 |
|
86 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
0.052 |
|
87 |
|
|
BRN028 |
Brain Cancer |
74 |
0.052 |
|
88 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.052 |
|
89 |
|
P
|
FML011 |
Familial Adenomatous Polyposis |
72 |
0.052 |
|
90 |
|
P
|
EPL164 |
Epilepsy |
71 |
0.052 |
|
91 |
|
P
|
ATS364 |
Autism |
70 |
0.052 |
|
92 |
|
|
DWN001 |
Down Syndrome |
70 |
0.052 |
|
93 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
0.052 |
|
94 |
|
P
|
DMN002 |
Dementia |
66 |
0.052 |
|
95 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.052 |
|
96 |
|
|
PRT037 |
Pertussis |
65 |
0.052 |
|
97 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.052 |
|
98 |
|
|
NRM005 |
Neuromuscular Disease |
64 |
0.052 |
|
99 |
|
c
|
OPT053 |
Optic Atrophy 1 |
63 |
0.052 |
|
100 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
0.052 |
|
101 |
|
P
|
MCH002 |
Machado-Joseph Disease |
62 |
0.052 |
|
102 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
0.052 |
|
103 |
|
|
CHR619 |
Chromosome 2q35 Duplication Syndrome |
62 |
0.052 |
|
104 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.052 |
|
105 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.052 |
|
106 |
|
|
TMT001 |
Timothy Syndrome |
61 |
0.052 |
|
107 |
|
P
|
ENC004 |
Encephalitis |
61 |
0.052 |
|
108 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.052 |
|
109 |
|
P
|
ATS308 |
Autosomal Dominant Cerebellar Ataxia |
60 |
0.052 |
|
110 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.052 |
|
111 |
|
|
STT001 |
Status Epilepticus |
60 |
0.052 |
|
112 |
|
P
|
MCR010 |
Microcephaly |
59 |
0.052 |
|
113 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.052 |
|
114 |
|
P
|
ALC033 |
Alcohol Use Disorder |
58 |
0.052 |
|
|
116 |
|
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
57 |
0.052 |
|
117 |
|
|
CRT033 |
Corticobasal Degeneration |
57 |
0.052 |
|
118 |
|
|
HYP266 |
Hypoxia |
57 |
0.052 |
|
119 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
0.052 |
|
120 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.052 |
|
121 |
|
|
GNG005 |
Gangliocytoma |
55 |
0.052 |
|
122 |
|
P
|
GNR002 |
Generalized Epilepsy with Febrile Seizures Plus |
55 |
0.052 |
|
123 |
|
|
GNG004 |
Ganglioglioma |
54 |
0.052 |
|
124 |
|
P
|
TCD001 |
Tic Disorder |
53 |
0.052 |
|
125 |
|
P
|
RTN016 |
Retinal Degeneration |
53 |
0.052 |
|
126 |
|
|
DMY004 |
Demyelinating Disease |
52 |
0.052 |
|
127 |
|
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
0.052 |
|
128 |
|
P
|
AST007 |
Astrocytoma |
51 |
0.052 |
|
129 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.052 |
|
130 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.052 |
|
131 |
|
|
47X002 |
47,xyy |
49 |
0.052 |
|
132 |
|
|
VCC001 |
Vaccinia |
49 |
0.052 |
|
133 |
|
|
NRN001 |
Neuroendocrine Carcinoma |
47 |
0.052 |
|
134 |
|
|
RNL077 |
Renal Fibrosis |
47 |
0.052 |
|
135 |
|
|
RTN023 |
Retinitis |
46 |
0.052 |
|
136 |
|
|
PTT037 |
Pituitary Tumors |
44 |
0.052 |
|
137 |
|
|
CLP005 |
Ciliopathy |
43 |
0.052 |
|
138 |
|
|
PHY002 |
Physical Disorder |
42 |
0.052 |
|
139 |
|
c
|
PRM212 |
Primary Microcephaly |
42 |
0.052 |
|
140 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.052 |
|
141 |
|
|
OCL052 |
Ocular Dominance |
42 |
0.052 |
|
142 |
|
|
NRN016 |
Neuronal Migration Disorders |
40 |
0.052 |
|
143 |
|
|
48X005 |
48,xyyy |
39 |
0.052 |
|
144 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.052 |
|
145 |
|
|
PFH001 |
Pafah1b1-Associated Lissencephaly/subcortical Band Heterotopia |
12 |
0.052 |
|
146 |
|
|
CDK007 |
Cdk13-Related Disorder |
12 |
0.052 |
|
147 |
|
|
DCX001 |
Dcx-Related Disorders |
10 |
0.052 |
|