# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
MYP119 |
Myopathy, Myofibrillar, 7 |
31 |
18.472 |
|
2 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
18.105 |
|
3 |
|
|
CRN005 |
Craniofrontonasal Syndrome |
57 |
9.786 |
|
4 |
|
|
OVR062 |
Ovary Serous Adenocarcinoma |
25 |
8.512 |
|
5 |
|
c
|
DFN177 |
Deafness, Autosomal Recessive 5 |
22 |
8.219 |
|
6 |
|
|
KGM001 |
Kagami-Ogata Syndrome |
53 |
8.219 |
|
7 |
|
c
|
DFN148 |
Deafness, Autosomal Dominant 16 |
29 |
8.219 |
|
8 |
|
c
|
DFN157 |
Deafness, Autosomal Dominant 47 |
19 |
8.219 |
|
9 |
|
c
|
DFN153 |
Deafness, Autosomal Dominant 30 |
23 |
8.219 |
|
10 |
|
P
|
LNG032 |
Lung Cancer |
98 |
5.660 |
|
11 |
|
P
|
BNC003 |
Bone Cancer |
58 |
5.139 |
|
12 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
3.895 |
|
13 |
|
|
GLM045 |
Glioma |
63 |
3.679 |
|
14 |
|
|
MYF002 |
Myofascial Pain Syndrome |
46 |
3.341 |
|
15 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
69 |
3.228 |
|
16 |
|
|
OPT003 |
Opiate Dependence |
49 |
3.176 |
|
17 |
|
|
END057 |
Endometrial Cancer |
72 |
3.098 |
|
18 |
|
|
MRP001 |
Morphine Dependence |
42 |
3.089 |
|
19 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
2.998 |
|
20 |
|
|
GLL048 |
Glial Tumor |
52 |
2.904 |
|
21 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
70 |
2.903 |
|
22 |
|
P
|
MDL005 |
Medulloblastoma |
75 |
2.701 |
|
23 |
|
|
HGH043 |
High Grade Glioma |
45 |
2.701 |
|
24 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
2.646 |
|
25 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
2.475 |
|
26 |
|
|
ADN009 |
Adenosquamous Carcinoma |
48 |
2.475 |
|
27 |
|
P
|
CHR345 |
Chronic Pain |
50 |
2.475 |
|
28 |
|
|
CRN027 |
Corneal Neovascularization |
47 |
2.349 |
|
29 |
|
|
SML031 |
Small Cell Carcinoma of the Bladder |
46 |
2.327 |
|
30 |
|
P
|
GST053 |
Gastric Cancer |
83 |
2.232 |
|
31 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
2.193 |
|
32 |
|
|
GST040 |
Gastric Adenocarcinoma |
67 |
2.174 |
|
33 |
|
P
|
BRS047 |
Breast Cancer |
98 |
2.166 |
|
34 |
|
|
ADN089 |
Adenosquamous Lung Carcinoma |
49 |
2.031 |
|
35 |
|
|
GST103 |
Gastric Cancer, Hereditary Diffuse |
68 |
2.020 |
|
36 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
68 |
2.020 |
|
37 |
|
P
|
TMR010 |
Tumor Predisposition Syndrome |
67 |
1.999 |
|
38 |
|
|
BRN015 |
Bronchiolo-Alveolar Adenocarcinoma |
55 |
1.999 |
|
39 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
1.917 |
|
40 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
1.890 |
|
41 |
|
P
|
LTR001 |
Lateral Sclerosis |
58 |
1.890 |
|
42 |
|
|
SML009 |
Small Intestine Adenocarcinoma |
57 |
1.842 |
|
43 |
|
|
ESP021 |
Esophageal Cancer |
83 |
1.830 |
|
44 |
|
P
|
NRP001 |
Neuropathy |
60 |
1.809 |
|
45 |
|
P
|
OPT006 |
Optic Nerve Disease |
58 |
1.809 |
|
46 |
|
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
60 |
1.578 |
|
47 |
|
c
|
CLR087 |
Colorectal Cancer 12 |
34 |
1.578 |
|
48 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
1.465 |
|
49 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
1.430 |
|
50 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
33 |
1.430 |
|
51 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
1.393 |
|
52 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
80 |
1.319 |
|
53 |
|
|
IRR002 |
Irritable Bowel Syndrome |
65 |
1.279 |
|
54 |
|
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
54 |
1.198 |
|
55 |
|
|
OST115 |
Osteonecrosis of the Jaw |
41 |
1.108 |
|
56 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
64 |
1.108 |
|
57 |
|
|
LMY002 |
Leiomyoma |
51 |
1.108 |
|
58 |
|
|
OCL006 |
Ocular Hypertension |
53 |
1.108 |
|
59 |
|
|
OST003 |
Osteonecrosis |
61 |
1.108 |
|
60 |
|
|
CYT002 |
Cytokine Deficiency |
43 |
1.108 |
|
61 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
1.015 |
|
62 |
|
|
VNH007 |
Von Hippel-Lindau Syndrome |
73 |
0.933 |
|
63 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
74 |
0.905 |
|
64 |
|
P
|
LYM118 |
Lymphoma |
67 |
0.905 |
|
65 |
|
|
LMY014 |
Leiomyoma, Uterine |
56 |
0.905 |
|
66 |
|
|
LYM143 |
Lymphoma, Non-Hodgkin, Familial |
75 |
0.905 |
|
67 |
|
|
CRH001 |
Crohn's Disease |
80 |
0.905 |
|
68 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
0.905 |
|
69 |
|
P
|
BCL004 |
B-Cell Non-Hodgkin Lymphoma |
42 |
0.905 |
|
70 |
|
c
|
PRC016 |
Pre-Eclampsia |
65 |
0.905 |
|
71 |
|
|
ALL029 |
Allergic Disease |
59 |
0.905 |
|
72 |
|
P
|
PLY011 |
Polycystic Ovary Syndrome |
57 |
0.905 |
|
73 |
|
P
|
INT068 |
Intestinal Disease |
53 |
0.905 |
|
74 |
|
|
END041 |
Endometrial Adenocarcinoma |
64 |
0.903 |
|
75 |
|
|
LNG012 |
Lung Occult Squamous Cell Carcinoma |
20 |
0.903 |
|
76 |
|
|
LNG007 |
Lung Mixed Small Cell and Squamous Cell Carcinoma |
21 |
0.903 |
|
77 |
|
|
LNG111 |
Lung Non-Squamous Non-Small Cell Carcinoma |
56 |
0.879 |
|
78 |
|
|
PLM173 |
Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal |
34 |
0.879 |
|
79 |
|
P
|
LNG021 |
Lung Occult Small Cell Carcinoma |
20 |
0.879 |
|
80 |
|
|
LNG019 |
Lung Combined Type Small Cell Carcinoma |
32 |
0.879 |
|
81 |
|
|
SKN022 |
Skin Squamous Cell Carcinoma |
54 |
0.879 |
|
82 |
|
|
PSD011 |
Pseudovascular Skin Squamous Cell Carcinoma |
16 |
0.879 |
|
83 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.782 |
|
84 |
|
c
|
MSM022 |
Mismatch Repair Cancer Syndrome 1 |
70 |
0.776 |
|
85 |
|
P
|
GLM040 |
Glioma Susceptibility 1 |
71 |
0.776 |
|
86 |
|
|
MNN043 |
Meningioma, Familial |
79 |
0.776 |
|
87 |
|
P
|
OLG002 |
Oligodendroglioma |
66 |
0.776 |
|
88 |
|
|
PPL004 |
Papillary Squamous Carcinoma |
39 |
0.747 |
|
89 |
|
c
|
GLM047 |
Glioma Susceptibility 3 |
33 |
0.718 |
|
90 |
|
c
|
GLM025 |
Glioma Susceptibility 2 |
30 |
0.718 |
|
91 |
|
c
|
GLM043 |
Glioma Susceptibility 9 |
30 |
0.718 |
|
92 |
|
|
BRS099 |
Breast Ductal Carcinoma |
61 |
0.655 |
|
93 |
|
|
ATH013 |
Atherosclerosis Susceptibility |
63 |
0.640 |
|
94 |
|
|
CRV035 |
Cervical Cancer |
73 |
0.640 |
|
95 |
|
|
ALC007 |
Alcohol Dependence |
66 |
0.640 |
|
96 |
|
c
|
MST023 |
Mesothelioma, Malignant |
56 |
0.640 |
|
97 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
0.640 |
|
98 |
|
|
MYX013 |
Myxofibrosarcoma |
44 |
0.640 |
|
99 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
80 |
0.640 |
|
100 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.640 |
|
101 |
|
|
EWN003 |
Ewing Sarcoma |
70 |
0.640 |
|
102 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
0.640 |
|
103 |
|
c
|
HMP023 |
Hemophagocytic Lymphohistiocytosis, Familial, 5 |
41 |
0.640 |
|
104 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
0.640 |
|
105 |
|
c
|
BLD168 |
Bleeding Disorder, Platelet-Type, 22 |
17 |
0.640 |
|
106 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.640 |
|
107 |
|
P
|
HLP001 |
Holoprosencephaly |
69 |
0.640 |
|
108 |
|
|
47X002 |
47,xyy |
48 |
0.640 |
|
109 |
|
P
|
LVR013 |
Liver Disease |
69 |
0.640 |
|
110 |
|
P
|
EPL164 |
Epilepsy |
68 |
0.640 |
|
111 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
0.640 |
|
112 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
0.640 |
|
113 |
|
|
DDN010 |
Duodenum Cancer |
52 |
0.640 |
|
114 |
|
P
|
LKM002 |
Leukemia |
67 |
0.640 |
|
115 |
|
|
MYM001 |
Myoma |
54 |
0.640 |
|
116 |
|
P
|
BNG032 |
Benign Mesothelioma |
53 |
0.640 |
|
117 |
|
P
|
TMP001 |
Temporal Lobe Epilepsy |
49 |
0.640 |
|
118 |
|
|
CHL068 |
Cholestasis |
61 |
0.640 |
|
119 |
|
P
|
URT039 |
Urticaria |
58 |
0.640 |
|
120 |
|
P
|
ENC004 |
Encephalitis |
61 |
0.640 |
|
121 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
39 |
0.640 |
|
122 |
|
c
|
PRS097 |
Prostate Cancer, Hereditary, 1 |
39 |
0.622 |
|
123 |
|
c
|
PRS070 |
Prostate Cancer, Hereditary, 12 |
22 |
0.622 |
|
124 |
|
c
|
PRS071 |
Prostate Cancer, Hereditary, 13 |
25 |
0.622 |
|
125 |
|
c
|
PRS117 |
Prostate Cancer, Hereditary, 11 |
24 |
0.622 |
|
126 |
|
c
|
PRS114 |
Prostate Cancer, Hereditary, 2 |
33 |
0.622 |
|
127 |
|
|
SKN019 |
Skin Melanoma |
71 |
0.622 |
|
128 |
|
|
PRS015 |
Prostate Signet Ring Cell Adenocarcinoma |
25 |
0.622 |
|
129 |
|
|
MLN065 |
Melanocytic Nevus Syndrome, Congenital |
62 |
0.586 |
|
130 |
|
P
|
BLD062 |
Bile Duct Cancer |
67 |
0.586 |
|
131 |
|
|
PNS010 |
Penis Squamous Cell Carcinoma |
45 |
0.586 |
|
132 |
|
|
PNS005 |
Penis Mixed Squamous Cell Carcinoma |
12 |
0.586 |
|
133 |
|
|
MLD001 |
Melioidosis |
67 |
0.470 |
|
134 |
|
|
LBL001 |
Lobular Neoplasia |
55 |
0.463 |
|
135 |
|
P
|
MLN008 |
Melanoma |
76 |
0.415 |
|
136 |
|
|
LNG115 |
Lung Sarcomatoid Carcinoma |
36 |
0.359 |
|
137 |
|
|
LNG091 |
Lung Mucoepidermoid Carcinoma |
32 |
0.359 |
|
138 |
|
|
LNG003 |
Lung Carcinoma in Situ |
36 |
0.359 |
|
139 |
|
|
BSL003 |
Basaloid Lung Carcinoma |
35 |
0.359 |
|
140 |
|
P
|
LNG035 |
Lung Large Cell Carcinoma |
54 |
0.359 |
|
141 |
|
|
LNG011 |
Lung Adenoid Cystic Carcinoma |
35 |
0.359 |
|
142 |
|
|
LNG020 |
Lung Oat Cell Carcinoma |
51 |
0.359 |
|
143 |
|
|
LNG017 |
Lung Giant Cell Carcinoma |
52 |
0.359 |
|
144 |
|
c
|
LNG001 |
Lung Clear Cell Carcinoma |
29 |
0.359 |
|
145 |
|
|
PRS008 |
Prostate Small Cell Carcinoma |
25 |
0.359 |
|
146 |
|
|
LNG006 |
Lung Occult Large Cell Carcinoma |
14 |
0.359 |
|
147 |
|
|
LNG002 |
Lung Combined Large Cell Neuroendocrine Carcinoma |
19 |
0.359 |
|
148 |
|
|
ASB002 |
Asbestos-Related Lung Carcinoma |
32 |
0.359 |
|
149 |
|
|
HLR002 |
Hilar Lung Carcinoma |
24 |
0.359 |
|
150 |
|
|
LNG014 |
Lung Superior Sulcus Carcinoma |
15 |
0.359 |
|
151 |
|
|
SQM013 |
Squamous Cell Carcinoma, Head and Neck |
73 |
0.293 |
|
152 |
|
|
RNL119 |
Renal Cell Carcinoma, Xp11-Associated |
42 |
0.293 |
|
153 |
|
P
|
RTH006 |
Rothmund-Thomson Syndrome, Type 2 |
67 |
0.293 |
|
154 |
|
|
RMB001 |
Rombo Syndrome |
30 |
0.293 |
|
155 |
|
|
PLM026 |
Pilomatrixoma |
57 |
0.293 |
|
156 |
|
P
|
TRC095 |
Trichoepithelioma, Multiple Familial, 1 |
32 |
0.293 |
|
157 |
|
c
|
BSL024 |
Basal Cell Carcinoma 1 |
55 |
0.293 |
|
158 |
|
|
BSL044 |
Basal Cell Carcinoma, Infundibulocystic |
35 |
0.293 |
|
159 |
|
c
|
BSL034 |
Basal Cell Carcinoma 7 |
26 |
0.293 |
|
160 |
|
|
BRT002 |
Birt-Hogg-Dube Syndrome |
64 |
0.293 |
|
161 |
|
c
|
ALB010 |
Albinism, Oculocutaneous, Type Ib |
52 |
0.293 |
|
162 |
|
|
GST019 |
Gastrointestinal Stromal Tumor |
78 |
0.293 |
|
163 |
|
|
MLT165 |
Multilocular Cystic Renal Neoplasm of Low Malignant Potential |
28 |
0.293 |
|
164 |
|
|
MLT003 |
Multilocular Clear Cell Renal Cell Carcinoma |
32 |
0.293 |
|
165 |
|
|
CHR177 |
Chromophobe Renal Cell Carcinoma |
54 |
0.293 |
|
166 |
|
|
CYS004 |
Cystic Basal Cell Carcinoma |
36 |
0.293 |
|
167 |
|
|
SRC003 |
Sarcomatoid Basal Cell Carcinoma |
28 |
0.293 |
|
168 |
|
|
NDL009 |
Nodular Basal Cell Carcinoma |
40 |
0.293 |
|
169 |
|
|
MTT001 |
Metatypical Basal Cell Carcinoma |
32 |
0.293 |
|
170 |
|
|
PGM002 |
Pigmented Basal Cell Carcinoma |
31 |
0.293 |
|
171 |
|
|
MCR016 |
Micronodular Basal Cell Carcinoma |
34 |
0.293 |
|
172 |
|
|
INF027 |
Infiltrative Basal Cell Carcinoma |
32 |
0.293 |
|
173 |
|
|
PRM126 |
Primary Peritoneal Carcinoma |
62 |
0.293 |
|
174 |
|
|
MRK001 |
Merkel Cell Carcinoma |
64 |
0.293 |
|
175 |
|
|
ANL013 |
Anal Margin Basal Cell Carcinoma |
18 |
0.293 |
|
176 |
|
|
SBC013 |
Sebaceous Basal Cell Carcinoma |
13 |
0.293 |
|
177 |
|
|
ADM002 |
Adamantinoid Basal Cell Epithelioma |
20 |
0.293 |
|
178 |
|
|
CLR015 |
Clear Cell Basal Cell Carcinoma |
39 |
0.293 |
|
179 |
|
|
ADN015 |
Adenoid Basal Cell Carcinoma |
31 |
0.293 |
|
180 |
|
|
DST001 |
Distal Biliary Tract Carcinoma |
24 |
0.293 |
|
181 |
|
|
SGN001 |
Signet Ring Basal Cell Carcinoma |
32 |
0.293 |
|
182 |
|
c
|
BSL007 |
Basal Cell Carcinoma |
68 |
0.293 |
|
183 |
|
|
END032 |
Endometrial Clear Cell Adenocarcinoma |
34 |
0.293 |
|
184 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.293 |
|
185 |
|
|
ORL011 |
Oral Cancer |
60 |
0.293 |
|
186 |
|
|
9Q2001 |
9q22.3 Microdeletion |
24 |
0.293 |
|
187 |
|
|
RCS008 |
Recessive Dystrophic Epidermolysis Bullosa-Generalized Other |
30 |
0.293 |
|
188 |
|
|
INF057 |
Inflammatory Linear Verrucous Epidermal Nevus |
33 |
0.293 |
|
189 |
|
|
LNR004 |
Linear Porokeratosis |
33 |
0.293 |
|
190 |
|
|
LMN016 |
Luminal Breast Carcinoma B |
28 |
0.207 |
|
191 |
|
P
|
LMN015 |
Luminal Breast Carcinoma a |
35 |
0.207 |
|
192 |
|
|
ESP027 |
Esophagus Squamous Cell Carcinoma |
45 |
0.207 |
|
193 |
|
|
THY124 |
Thyroid Gland Papillary Carcinoma |
39 |
0.207 |
|
194 |
|
|
LVR008 |
Liver Fibrosarcoma |
14 |
0.207 |
|