# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
25.365 |
|
2 |
|
P
|
CRN037 |
Craniosynostosis |
68 |
13.611 |
|
3 |
|
P
|
DNR001 |
Duane Retraction Syndrome |
53 |
11.931 |
|
4 |
|
c
|
DFN036 |
Deafness, X-Linked 2 |
44 |
9.813 |
|
5 |
|
|
LNG091 |
Lung Mucoepidermoid Carcinoma |
32 |
9.138 |
|
6 |
|
|
SPN186 |
Spinal Cord Injury |
61 |
8.791 |
|
7 |
|
|
CRN005 |
Craniofrontonasal Syndrome |
57 |
8.036 |
|
8 |
|
|
CMM006 |
Commensal Bacterial Infectious Disease |
26 |
8.036 |
|
9 |
|
c
|
PSR034 |
Psoriasis 15 |
29 |
8.036 |
|
10 |
|
|
DSS008 |
Disease of Mental Health |
74 |
8.036 |
|
11 |
|
|
CMB042 |
Combined Oxidative Phosphorylation Deficiency 16 |
34 |
8.036 |
|
12 |
|
|
STP002 |
Staphyloenterotoxemia |
26 |
8.036 |
|
13 |
|
P
|
LTR001 |
Lateral Sclerosis |
58 |
7.922 |
|
14 |
|
P
|
BRS047 |
Breast Cancer |
98 |
4.510 |
|
15 |
|
|
ISC004 |
Ischemia |
61 |
4.338 |
|
16 |
|
|
BNR002 |
Bone Resorption Disease |
47 |
4.011 |
|
17 |
|
|
GST040 |
Gastric Adenocarcinoma |
67 |
3.712 |
|
18 |
|
|
BRN071 |
Brain Injury |
50 |
3.626 |
|
19 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
3.584 |
|
20 |
|
P
|
RCT021 |
Rectum Cancer |
54 |
3.381 |
|
21 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
3.242 |
|
22 |
|
P
|
TMP001 |
Temporal Lobe Epilepsy |
49 |
3.030 |
|
23 |
|
|
STT001 |
Status Epilepticus |
59 |
3.030 |
|
24 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
2.953 |
|
25 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
2.879 |
|
26 |
|
|
GLB002 |
Glioblastoma |
67 |
2.873 |
|
27 |
|
P
|
MTR014 |
Motor Neuron Disease |
65 |
2.837 |
|
28 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
2.702 |
|
29 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
80 |
2.685 |
|
30 |
|
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
54 |
2.685 |
|
31 |
|
P
|
MVM001 |
Movement Disease |
61 |
2.605 |
|
32 |
|
|
DMY004 |
Demyelinating Disease |
50 |
2.605 |
|
33 |
|
|
ALL014 |
Allergic Encephalomyelitis |
34 |
2.605 |
|
34 |
|
P
|
GST053 |
Gastric Cancer |
83 |
2.568 |
|
35 |
|
P
|
ALZ034 |
Alzheimer Disease |
87 |
2.522 |
|
36 |
|
P
|
LYM118 |
Lymphoma |
67 |
2.522 |
|
37 |
|
|
INT323 |
Intraocular Pressure Quantitative Trait Locus |
64 |
2.522 |
|
38 |
|
|
OCL006 |
Ocular Hypertension |
53 |
2.522 |
|
39 |
|
P
|
BNC003 |
Bone Cancer |
58 |
2.522 |
|
40 |
|
|
NRL016 |
Neural Tube Defects |
81 |
2.513 |
|
41 |
|
|
GLL048 |
Glial Tumor |
52 |
2.513 |
|
42 |
|
|
HGH043 |
High Grade Glioma |
45 |
2.513 |
|
43 |
|
|
HYD002 |
Hydronephrosis |
58 |
2.513 |
|
44 |
|
|
GLM045 |
Glioma |
63 |
2.513 |
|
45 |
|
|
BRK010 |
Burkitt Lymphoma |
66 |
2.435 |
|
46 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
54 |
2.435 |
|
47 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
2.435 |
|
48 |
|
c
|
PRG020 |
Paragangliomas 3 |
39 |
2.435 |
|
49 |
|
P
|
BCL017 |
B-Cell Lymphoma |
59 |
2.435 |
|
50 |
|
|
HDG002 |
Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance |
43 |
2.435 |
|
51 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
2.435 |
|
52 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
2.435 |
|
53 |
|
|
SPL018 |
Splenomegaly |
49 |
2.435 |
|
54 |
|
|
PST046 |
Post-Transplant Lymphoproliferative Disease |
53 |
2.435 |
|
55 |
|
|
SPN035 |
Spindle Cell Sarcoma |
54 |
2.400 |
|
56 |
|
|
SRC014 |
Sarcoma |
65 |
2.400 |
|
57 |
|
|
CRV035 |
Cervical Cancer |
73 |
2.343 |
|
58 |
|
|
BRS109 |
Breast Cancer-Related Regulator of Tp53 |
16 |
2.343 |
|
59 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
2.343 |
|
60 |
|
|
BRN004 |
Brain Edema |
54 |
2.343 |
|
61 |
|
|
VSC002 |
Vascular Dementia |
60 |
2.343 |
|
62 |
|
|
KPS004 |
Kaposi Sarcoma |
77 |
2.332 |
|
63 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
2.246 |
|
64 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
64 |
2.246 |
|
65 |
|
P
|
EPL164 |
Epilepsy |
68 |
2.246 |
|
66 |
|
|
MNT002 |
Mental Depression |
57 |
2.246 |
|
67 |
|
|
SYN005 |
Synostosis |
43 |
2.246 |
|
68 |
|
|
DPR016 |
Depression |
65 |
2.246 |
|
69 |
|
P
|
SPN046 |
Spinal Muscular Atrophy |
63 |
2.142 |
|
70 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
2.142 |
|
71 |
|
|
ANN002 |
Anencephaly |
57 |
2.031 |
|
72 |
|
|
SPN221 |
Spina Bifida Occulta |
40 |
2.031 |
|
73 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
2.031 |
|
74 |
|
P
|
MLN008 |
Melanoma |
76 |
2.031 |
|
75 |
|
|
HDN002 |
Head Injury |
44 |
2.031 |
|
76 |
|
P
|
CHR345 |
Chronic Pain |
50 |
2.031 |
|
77 |
|
|
EXN003 |
Exencephaly |
30 |
2.031 |
|
78 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
65 |
1.789 |
|
79 |
|
|
CKT002 |
Cakut |
47 |
1.777 |
|
80 |
|
|
URT020 |
Ureterocele |
36 |
1.777 |
|
81 |
|
P
|
MDL005 |
Medulloblastoma |
75 |
1.777 |
|
82 |
|
|
HYP066 |
Hyperglycemia |
61 |
1.777 |
|
83 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
1.626 |
|
84 |
|
|
CLR108 |
Colorectal Adenoma |
64 |
1.626 |
|
85 |
|
|
SPS226 |
Spastic Paraplegia, Ataxia, and Mental Retardation |
36 |
1.626 |
|
86 |
|
|
URT010 |
Ureteral Obstruction |
45 |
1.626 |
|
87 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
1.496 |
|
88 |
|
P
|
MYL006 |
Myeloid Leukemia |
61 |
1.496 |
|
89 |
|
P
|
MYC084 |
Mycobacterium Tuberculosis 1 |
68 |
1.446 |
|
90 |
|
c
|
NMN014 |
Niemann-Pick Disease, Type C2 |
49 |
1.446 |
|
91 |
|
P
|
WRD001 |
Waardenburg's Syndrome |
60 |
1.446 |
|
92 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
59 |
1.446 |
|
93 |
|
|
PLM173 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal |
34 |
1.200 |
|
94 |
|
|
SKN022 |
Skin Squamous Cell Carcinoma |
54 |
1.200 |
|
95 |
|
|
PSD011 |
Pseudovascular Skin Squamous Cell Carcinoma |
16 |
1.200 |
|
96 |
|
|
TBX002 |
T-Box 24 |
6 |
1.131 |
|
97 |
|
P
|
LNG032 |
Lung Cancer |
98 |
1.040 |
|
98 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
1.040 |
|
99 |
|
|
ATH013 |
Atherosclerosis Susceptibility |
63 |
0.980 |
|
100 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.980 |
|
101 |
|
c
|
HPT073 |
Hepatitis C Virus |
71 |
0.980 |
|
102 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
0.980 |
|
103 |
|
c
|
HPT001 |
Hepatitis C |
62 |
0.980 |
|
104 |
|
P
|
RTN016 |
Retinal Degeneration |
52 |
0.980 |
|
105 |
|
P
|
LKM002 |
Leukemia |
67 |
0.980 |
|
106 |
|
|
PST028 |
Post-Traumatic Stress Disorder |
59 |
0.980 |
|
107 |
|
|
ESP021 |
Esophageal Cancer |
83 |
0.979 |
|
108 |
|
|
ESP027 |
Esophagus Squamous Cell Carcinoma |
45 |
0.929 |
|
109 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
0.929 |
|
110 |
|
P
|
ATS364 |
Autism |
69 |
0.800 |
|
111 |
|
|
CLF004 |
Cleft Lip/palate |
57 |
0.800 |
|
112 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
72 |
0.800 |
|
113 |
|
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
0.800 |
|
114 |
|
|
CLF001 |
Cleft Lip |
53 |
0.800 |
|
115 |
|
P
|
NRP001 |
Neuropathy |
60 |
0.800 |
|
116 |
|
|
ACT084 |
Acute Stress Disorder |
54 |
0.800 |
|
117 |
|
|
FBR047 |
Fibromyalgia |
58 |
0.800 |
|
118 |
|
|
HLX001 |
Helix Syndrome |
48 |
0.800 |
|
119 |
|
c
|
FTL071 |
Fetal Akinesia Deformation Sequence 3 |
30 |
0.800 |
|
120 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.800 |
|
121 |
|
|
ADN089 |
Adenosquamous Lung Carcinoma |
49 |
0.759 |
|
122 |
|
|
LNG012 |
Lung Occult Squamous Cell Carcinoma |
20 |
0.759 |
|
123 |
|
|
LNG007 |
Lung Mixed Small Cell and Squamous Cell Carcinoma |
21 |
0.759 |
|
124 |
|
c
|
NRF023 |
Neurofibromatosis, Type Ii |
71 |
0.566 |
|
125 |
|
|
SRC027 |
Sarcoma, Synovial |
58 |
0.566 |
|
126 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.566 |
|
127 |
|
c
|
DNR003 |
Duane Retraction Syndrome 1 |
37 |
0.566 |
|
128 |
|
P
|
MLT020 |
Multiple Sclerosis |
79 |
0.566 |
|
129 |
|
c
|
ATR087 |
Atrial Standstill 1 |
74 |
0.566 |
|
130 |
|
|
WLL001 |
Williams-Beuren Syndrome |
61 |
0.566 |
|
131 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
80 |
0.566 |
|
132 |
|
|
AGN018 |
Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome |
57 |
0.566 |
|
133 |
|
|
PRP027 |
Peripheral Vascular Disease |
71 |
0.566 |
|
134 |
|
|
MRG003 |
Marginal Zone B-Cell Lymphoma |
52 |
0.566 |
|
135 |
|
|
SPL004 |
Splenic Marginal Zone Lymphoma |
50 |
0.566 |
|
136 |
|
|
MLD018 |
Mild Cognitive Impairment |
48 |
0.566 |
|
137 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
80 |
0.566 |
|
138 |
|
P
|
PLY006 |
Polydactyly |
59 |
0.566 |
|
139 |
|
c
|
HMP023 |
Hemophagocytic Lymphohistiocytosis, Familial, 5 |
41 |
0.566 |
|
140 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.566 |
|
141 |
|
P
|
SCL057 |
Scoliosis, Isolated 1 |
40 |
0.566 |
|
142 |
|
P
|
STR020 |
Strabismus |
56 |
0.566 |
|
143 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
0.566 |
|
144 |
|
|
CLB019 |
Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly |
43 |
0.566 |
|
145 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
0.566 |
|
146 |
|
|
CHL065 |
Cholangiocarcinoma |
58 |
0.566 |
|
147 |
|
|
GST019 |
Gastrointestinal Stromal Tumor |
78 |
0.566 |
|
148 |
|
P
|
SCL018 |
Scoliosis |
57 |
0.566 |
|
149 |
|
c
|
BLD168 |
Bleeding Disorder, Platelet-Type, 22 |
17 |
0.566 |
|
150 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
0.566 |
|
151 |
|
|
MCP006 |
Mucoepidermoid Carcinoma |
48 |
0.566 |
|
152 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
0.566 |
|
153 |
|
P
|
PSR002 |
Psoriasis |
63 |
0.566 |
|
154 |
|
|
MCH006 |
Mechanical Strabismus |
40 |
0.566 |
|
155 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
0.566 |
|
156 |
|
|
PRM314 |
Primary Cutaneous Lymphoma |
17 |
0.566 |
|
157 |
|
P
|
MSC005 |
Muscular Dystrophy |
67 |
0.566 |
|
158 |
|
|
SKN016 |
Skin Disease |
63 |
0.566 |
|
159 |
|
|
GLL017 |
Gallbladder Adenocarcinoma |
42 |
0.566 |
|
160 |
|
|
ADN018 |
Adenoma |
59 |
0.566 |
|
161 |
|
|
PST011 |
Pustulosis of Palm and Sole |
52 |
0.566 |
|
162 |
|
|
PRP016 |
Paraplegia |
52 |
0.566 |
|
163 |
|
|
CMB007 |
Combined Immunodeficiency |
57 |
0.566 |
|
164 |
|
|
DDN010 |
Duodenum Cancer |
52 |
0.566 |
|
165 |
|
|
PPL022 |
Papilloma |
53 |
0.566 |
|
166 |
|
|
SQM002 |
Squamous Cell Papilloma |
46 |
0.566 |
|
167 |
|
|
SNS003 |
Sensory Peripheral Neuropathy |
52 |
0.566 |
|
|
169 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
0.566 |
|
170 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.566 |
|
171 |
|
|
PRL014 |
Paralytic Squint |
28 |
0.566 |
|
172 |
|
|
THY020 |
Thyroid Hyalinizing Trabecular Adenoma |
20 |
0.566 |
|
173 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
72 |
0.566 |
|
174 |
|
|
INT079 |
Intrahepatic Cholangiocarcinoma |
51 |
0.566 |
|
175 |
|
|
PSD016 |
Pseudosarcomatous Fibromatosis |
37 |
0.566 |
|
176 |
|
P
|
GLL018 |
Gallbladder Cancer |
53 |
0.566 |
|
177 |
|
P
|
KDN017 |
Kidney Cancer |
61 |
0.566 |
|
178 |
|
|
IDP070 |
Idiopathic Scoliosis |
42 |
0.566 |
|
179 |
|
|
CRB037 |
Cerebral Palsy |
67 |
0.566 |
|
180 |
|
|
STX004 |
Stxbp1 Encephalopathy with Epilepsy |
15 |
0.566 |
|
181 |
|
P
|
NRF002 |
Neurofibromatosis |
57 |
0.566 |
|
182 |
|
|
FSC004 |
Fasciitis |
49 |
0.566 |
|
183 |
|
|
SFT003 |
Soft Tissue Sarcoma |
57 |
0.566 |
|
184 |
|
|
ISL019 |
Isolated Duane Retraction Syndrome |
21 |
0.566 |
|
185 |
|
|
PTT037 |
Pituitary Tumors |
44 |
0.566 |
|
186 |
|
|
BLR013 |
Biliary Tract Cancer |
43 |
0.566 |
|
187 |
|
|
SML031 |
Small Cell Carcinoma of the Bladder |
46 |
0.536 |
|
188 |
|
|
END057 |
Endometrial Cancer |
72 |
0.536 |
|
189 |
|
P
|
TMR010 |
Tumor Predisposition Syndrome |
67 |
0.536 |
|
190 |
|
|
LNG111 |
Lung Non-Squamous Non-Small Cell Carcinoma |
56 |
0.536 |
|
191 |
|
|
LNG115 |
Lung Sarcomatoid Carcinoma |
36 |
0.536 |
|
192 |
|
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
60 |
0.536 |
|
193 |
|
c
|
CLR087 |
Colorectal Cancer 12 |
34 |
0.536 |
|
194 |
|
|
GST103 |
Gastric Cancer, Hereditary Diffuse |
68 |
0.536 |
|
195 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
68 |
0.536 |
|
196 |
|
P
|
LNG021 |
Lung Occult Small Cell Carcinoma |
20 |
0.536 |
|
197 |
|
|
SML009 |
Small Intestine Adenocarcinoma |
57 |
0.536 |
|
198 |
|
|
LNG003 |
Lung Carcinoma in Situ |
36 |
0.536 |
|
199 |
|
|
BSL003 |
Basaloid Lung Carcinoma |
35 |
0.536 |
|
200 |
|
|
LNG019 |
Lung Combined Type Small Cell Carcinoma |
32 |
0.536 |
|
201 |
|
P
|
LNG035 |
Lung Large Cell Carcinoma |
54 |
0.536 |
|
202 |
|
|
LNG011 |
Lung Adenoid Cystic Carcinoma |
35 |
0.536 |
|
203 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
0.536 |
|
204 |
|
|
BRN015 |
Bronchiolo-Alveolar Adenocarcinoma |
55 |
0.536 |
|
205 |
|
|
LNG020 |
Lung Oat Cell Carcinoma |
51 |
0.536 |
|
206 |
|
|
LNG017 |
Lung Giant Cell Carcinoma |
52 |
0.536 |
|
207 |
|
c
|
LNG001 |
Lung Clear Cell Carcinoma |
29 |
0.536 |
|
208 |
|
|
LNG006 |
Lung Occult Large Cell Carcinoma |
14 |
0.536 |
|
209 |
|
|
LNG002 |
Lung Combined Large Cell Neuroendocrine Carcinoma |
19 |
0.536 |
|
210 |
|
|
ASB002 |
Asbestos-Related Lung Carcinoma |
32 |
0.536 |
|
211 |
|
|
HLR002 |
Hilar Lung Carcinoma |
24 |
0.536 |
|
212 |
|
|
LNG014 |
Lung Superior Sulcus Carcinoma |
15 |
0.536 |
|
213 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.504 |
|
214 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.504 |
|
215 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.504 |
|
216 |
|
c
|
TBR025 |
Tuberous Sclerosis 1 |
84 |
0.430 |
|
217 |
|
|
MLD001 |
Melioidosis |
67 |
0.430 |
|