# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
IGN004 |
Iga Nephropathy 3 |
22 |
37.297 |
|
2 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
15.374 |
|
3 |
|
|
ACH004 |
Achondroplasia |
66 |
12.427 |
|
4 |
|
|
THN010 |
Thanatophoric Dysplasia, Type Ii |
45 |
9.023 |
|
5 |
|
P
|
VND007 |
Van Der Woude Syndrome 1 |
60 |
8.787 |
|
6 |
|
P
|
ORF002 |
Orofacial Cleft |
43 |
8.787 |
|
7 |
|
|
LGS001 |
Legius Syndrome |
60 |
8.219 |
|
8 |
|
c
|
DFN179 |
Deafness, Autosomal Recessive 62 |
29 |
8.219 |
|
9 |
|
|
ADR004 |
Adrenal Cortical Adenocarcinoma |
38 |
8.219 |
|
10 |
|
|
HYP266 |
Hypoxia |
57 |
4.756 |
|
11 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
4.697 |
|
12 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
4.591 |
|
13 |
|
|
GLL048 |
Glial Tumor |
52 |
4.439 |
|
14 |
|
|
GLM045 |
Glioma |
63 |
4.439 |
|
15 |
|
|
GLB002 |
Glioblastoma |
67 |
3.951 |
|
16 |
|
P
|
ART022 |
Arthritis |
71 |
3.825 |
|
17 |
|
P
|
GST053 |
Gastric Cancer |
83 |
3.582 |
|
18 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
82 |
3.079 |
|
|
20 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
2.899 |
|
21 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
2.843 |
|
22 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
2.838 |
|
23 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
39 |
2.785 |
|
24 |
|
|
CLF001 |
Cleft Lip |
53 |
2.745 |
|
25 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
2.702 |
|
26 |
|
|
CLF056 |
Cleft Lip with or Without Cleft Palate |
42 |
2.544 |
|
27 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
2.533 |
|
28 |
|
|
HMC014 |
Homocysteinemia |
52 |
2.343 |
|
29 |
|
|
GST033 |
Gestational Diabetes |
61 |
2.343 |
|
30 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
2.128 |
|
31 |
|
|
IGG001 |
Iga Glomerulonephritis |
50 |
2.128 |
|
32 |
|
|
SPN035 |
Spindle Cell Sarcoma |
54 |
2.127 |
|
33 |
|
|
SRC014 |
Sarcoma |
65 |
2.127 |
|
34 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
2.050 |
|
35 |
|
P
|
OVR082 |
Overgrowth Syndrome |
49 |
2.006 |
|
36 |
|
|
HYP066 |
Hyperglycemia |
61 |
2.006 |
|
37 |
|
P
|
HYP061 |
Hypertrophic Cardiomyopathy |
69 |
2.006 |
|
38 |
|
|
CRN027 |
Corneal Neovascularization |
47 |
2.006 |
|
39 |
|
|
MLN079 |
Melanoma in Congenital Melanocytic Nevus |
37 |
2.006 |
|
40 |
|
P
|
LNG032 |
Lung Cancer |
98 |
1.996 |
|
41 |
|
c
|
THY107 |
Thymoma, Familial |
42 |
1.970 |
|
42 |
|
P
|
MLN008 |
Melanoma |
76 |
1.970 |
|
43 |
|
P
|
THY023 |
Thymoma |
64 |
1.970 |
|
44 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
1.872 |
|
45 |
|
|
OVR029 |
Ovarian Hyperstimulation Syndrome |
63 |
1.798 |
|
46 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
80 |
1.798 |
|
47 |
|
|
CHL065 |
Cholangiocarcinoma |
58 |
1.798 |
|
48 |
|
P
|
NRB001 |
Neuroblastoma |
66 |
1.798 |
|
49 |
|
|
INT079 |
Intrahepatic Cholangiocarcinoma |
51 |
1.798 |
|
50 |
|
|
TTH002 |
Tooth Agenesis |
61 |
1.720 |
|
51 |
|
|
PLC002 |
Plica Syndrome |
35 |
1.720 |
|
52 |
|
|
SYN007 |
Synovitis |
55 |
1.720 |
|
53 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
75 |
1.706 |
|
54 |
|
|
LVR012 |
Liver Cirrhosis |
63 |
1.706 |
|
55 |
|
P
|
SCL048 |
Sclerosteosis |
58 |
1.706 |
|
56 |
|
|
STR067 |
Stroke, Ischemic |
80 |
1.608 |
|
57 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
43 |
1.608 |
|
58 |
|
|
ORL011 |
Oral Cancer |
60 |
1.608 |
|
59 |
|
|
48X005 |
48,xyyy |
39 |
1.608 |
|
60 |
|
P
|
GLM007 |
Glomerulonephritis |
60 |
1.539 |
|
61 |
|
|
MNC006 |
Monoclonal Gammopathy of Uncertain Significance |
47 |
1.504 |
|
62 |
|
P
|
CTR002 |
Cataract |
60 |
1.504 |
|
63 |
|
P
|
PRD008 |
Periodontitis |
64 |
1.504 |
|
64 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
66 |
1.393 |
|
65 |
|
c
|
BRN108 |
Branchiootic Syndrome 1 |
62 |
1.393 |
|
66 |
|
P
|
THR014 |
Thrombocytopenia |
66 |
1.393 |
|
67 |
|
|
GST040 |
Gastric Adenocarcinoma |
67 |
1.393 |
|
68 |
|
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
1.271 |
|
69 |
|
|
RNL025 |
Renal Hypoplasia |
41 |
1.271 |
|
70 |
|
|
TTH030 |
Teeth, Supernumerary |
33 |
1.271 |
|
71 |
|
P
|
BCL017 |
B-Cell Lymphoma |
59 |
1.271 |
|
72 |
|
|
PRS021 |
Prostatic Adenoma |
43 |
1.271 |
|
73 |
|
|
PRS045 |
Prostatic Hypertrophy |
53 |
1.271 |
|
74 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
46 |
1.271 |
|
75 |
|
|
HYP572 |
Hypoganglionosis |
27 |
1.271 |
|
76 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
1.271 |
|
77 |
|
P
|
SZR006 |
Seizure Disorder |
70 |
1.137 |
|
78 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
1.137 |
|
79 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
1.137 |
|
80 |
|
P
|
PSR002 |
Psoriasis |
63 |
1.137 |
|
81 |
|
|
SKN016 |
Skin Disease |
63 |
1.137 |
|
82 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
1.137 |
|
83 |
|
|
PST011 |
Pustulosis of Palm and Sole |
52 |
1.137 |
|
84 |
|
|
CLF004 |
Cleft Lip/palate |
57 |
0.985 |
|
85 |
|
|
ATS252 |
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
41 |
0.985 |
|
86 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
76 |
0.985 |
|
87 |
|
|
MCR037 |
Macroglossia |
44 |
0.985 |
|
88 |
|
P
|
BCK002 |
Beckwith-Wiedemann Syndrome |
62 |
0.985 |
|
89 |
|
|
RSP023 |
Rasopathy |
53 |
0.985 |
|
90 |
|
|
CST001 |
Costello Syndrome |
68 |
0.985 |
|
91 |
|
c
|
DFN168 |
Deafness, Autosomal Recessive 26 |
27 |
0.985 |
|
92 |
|
|
DFN363 |
Deafness, Autosomal Recessive 26, Modifier of |
15 |
0.985 |
|
93 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
65 |
0.985 |
|
94 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
66 |
0.985 |
|
95 |
|
|
ACT084 |
Acute Stress Disorder |
54 |
0.985 |
|
96 |
|
|
LNG099 |
Lung Disease |
62 |
0.985 |
|
97 |
|
|
OST003 |
Osteonecrosis |
61 |
0.985 |
|
98 |
|
|
AZS001 |
Azoospermia |
45 |
0.985 |
|
99 |
|
P
|
DSR090 |
Disorder of Sexual Development |
44 |
0.985 |
|
100 |
|
|
PST028 |
Post-Traumatic Stress Disorder |
59 |
0.985 |
|
101 |
|
|
NNS035 |
Nonsyndromic 46,xx Testicular Disorders of Sex Development |
11 |
0.985 |
|
102 |
|
|
BRN071 |
Brain Injury |
50 |
0.985 |
|
103 |
|
|
ISL109 |
Isolated Cleft Lip |
33 |
0.804 |
|
104 |
|
|
SKL017 |
Skeletal Dysplasias |
41 |
0.804 |
|
105 |
|
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
40 |
0.804 |
|
106 |
|
P
|
46X052 |
46,xx Sex Reversal 1 |
54 |
0.804 |
|
107 |
|
c
|
46X048 |
46,xx Sex Reversal 2 |
27 |
0.804 |
|
108 |
|
|
CRV035 |
Cervical Cancer |
73 |
0.804 |
|
109 |
|
|
END057 |
Endometrial Cancer |
72 |
0.804 |
|
110 |
|
P
|
THN009 |
Thanatophoric Dysplasia, Type I |
63 |
0.804 |
|
111 |
|
|
ODN023 |
Odontochondrodysplasia |
67 |
0.804 |
|
112 |
|
P
|
HYP730 |
Hypogonadotropic Hypogonadism |
53 |
0.804 |
|
113 |
|
P
|
KLL001 |
Kallmann Syndrome |
65 |
0.804 |
|
114 |
|
P
|
LKM002 |
Leukemia |
67 |
0.804 |
|
115 |
|
|
BLR001 |
Biliary Atresia |
55 |
0.804 |
|
116 |
|
|
PTS001 |
Patau Syndrome |
56 |
0.804 |
|
117 |
|
|
PRP030 |
Purpura |
54 |
0.804 |
|
118 |
|
|
CHL068 |
Cholestasis |
61 |
0.804 |
|
119 |
|
|
HYP080 |
Hypogonadism |
50 |
0.804 |
|
120 |
|
|
CHR178 |
Chromosomal Triplication |
34 |
0.804 |
|
121 |
|
|
SKN019 |
Skin Melanoma |
71 |
0.740 |
|
122 |
|
P
|
BRS047 |
Breast Cancer |
98 |
0.696 |
|
123 |
|
|
OTT002 |
Otitis Media |
71 |
0.569 |
|
124 |
|
c
|
ORF014 |
Orofacial Cleft 5 |
21 |
0.569 |
|
125 |
|
P
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
52 |
0.569 |
|
126 |
|
P
|
LTH003 |
Lethal Congenital Contracture Syndrome |
41 |
0.569 |
|
127 |
|
|
INT072 |
Intestinal Pseudo-Obstruction |
62 |
0.569 |
|
128 |
|
|
INT029 |
Interleukin-7 Receptor Alpha Deficiency |
28 |
0.569 |
|
129 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
83 |
0.569 |
|
130 |
|
|
CRY035 |
Cryptorchidism, Unilateral or Bilateral |
58 |
0.569 |
|
131 |
|
c
|
HYP548 |
Hypogonadotropic Hypogonadism 2 with or Without Anosmia |
37 |
0.569 |
|
132 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.569 |
|
133 |
|
c
|
BDY017 |
Body Mass Index Quantitative Trait Locus 14 |
45 |
0.569 |
|
134 |
|
c
|
HYP511 |
Hypogonadotropic Hypogonadism 15 with or Without Anosmia |
29 |
0.569 |
|
135 |
|
c
|
HYP514 |
Hypogonadotropic Hypogonadism 8 with or Without Anosmia |
27 |
0.569 |
|
136 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
0.569 |
|
137 |
|
|
PLY001 |
Polycythemia Vera |
69 |
0.569 |
|
138 |
|
|
CHR619 |
Chromosome 2q35 Duplication Syndrome |
64 |
0.569 |
|
139 |
|
c
|
ORF048 |
Orofacial Cleft 1 |
30 |
0.569 |
|
140 |
|
|
HRW001 |
Hair Whorl |
35 |
0.569 |
|
141 |
|
c
|
HYP521 |
Hypogonadotropic Hypogonadism 10 with or Without Anosmia |
26 |
0.569 |
|
142 |
|
c
|
46X081 |
46,xx Sex Reversal |
33 |
0.569 |
|
143 |
|
P
|
CHR285 |
Chronic Myelomonocytic Leukemia |
60 |
0.569 |
|
144 |
|
P
|
CRB210 |
Cerebrofacial Arteriovenous Metameric Syndrome |
27 |
0.569 |
|
145 |
|
P
|
HLP001 |
Holoprosencephaly |
69 |
0.569 |
|
146 |
|
|
ACH005 |
Achalasia |
55 |
0.569 |
|
147 |
|
|
PRT185 |
Partial Deletion of the Long Arm of Chromosome 13 |
10 |
0.569 |
|
148 |
|
|
CNG562 |
Congenital Hypogonadotropic Hypogonadism |
33 |
0.569 |
|
149 |
|
|
ORF053 |
Orofacial Clefting Syndrome |
31 |
0.569 |
|
150 |
|
P
|
SKN015 |
Skin Carcinoma |
71 |
0.569 |
|
151 |
|
|
MNT002 |
Mental Depression |
57 |
0.569 |
|
152 |
|
|
SMN007 |
Seminoma |
42 |
0.569 |
|
153 |
|
P
|
PLY018 |
Polycythemia |
56 |
0.569 |
|
154 |
|
c
|
HYP538 |
Hypogonadotropic Hypogonadism 17 with or Without Anosmia |
25 |
0.569 |
|
155 |
|
c
|
HYP532 |
Hypogonadotropic Hypogonadism 18 with or Without Anosmia |
27 |
0.569 |
|
156 |
|
c
|
HYP557 |
Hypogonadotropic Hypogonadism 19 with or Without Anosmia |
26 |
0.569 |
|
157 |
|
c
|
HYP546 |
Hypogonadotropic Hypogonadism 20 with or Without Anosmia |
24 |
0.569 |
|
158 |
|
c
|
HYP817 |
Hypogonadotropic Hypogonadism 21 with or Without Anosmia |
25 |
0.569 |
|
159 |
|
P
|
MLN007 |
Male Infertility |
56 |
0.569 |
|
160 |
|
P
|
VSC007 |
Vascular Disease |
63 |
0.569 |
|
161 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
0.569 |
|
162 |
|
|
LPD008 |
Lipid Metabolism Disorder |
62 |
0.569 |
|
163 |
|
P
|
KDN017 |
Kidney Cancer |
61 |
0.569 |
|
164 |
|
c
|
HPT016 |
Hepatitis B |
62 |
0.569 |
|
165 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.569 |
|
166 |
|
P
|
RCT021 |
Rectum Cancer |
54 |
0.569 |
|
167 |
|
|
MGS001 |
Megaesophagus |
44 |
0.569 |
|
168 |
|
|
DPR016 |
Depression |
65 |
0.569 |
|
169 |
|
|
ISL004 |
Isolated Gonadotropin-Releasing Hormone Deficiency |
25 |
0.569 |
|
170 |
|
|
LNG111 |
Lung Non-Squamous Non-Small Cell Carcinoma |
56 |
0.523 |
|
171 |
|
|
LNG115 |
Lung Sarcomatoid Carcinoma |
36 |
0.523 |
|
172 |
|
|
LNG091 |
Lung Mucoepidermoid Carcinoma |
32 |
0.523 |
|
173 |
|
P
|
LNG021 |
Lung Occult Small Cell Carcinoma |
20 |
0.523 |
|
174 |
|
|
LNG003 |
Lung Carcinoma in Situ |
36 |
0.523 |
|
175 |
|
|
BSL003 |
Basaloid Lung Carcinoma |
35 |
0.523 |
|
176 |
|
|
LNG019 |
Lung Combined Type Small Cell Carcinoma |
32 |
0.523 |
|
177 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
0.523 |
|
178 |
|
P
|
LNG035 |
Lung Large Cell Carcinoma |
54 |
0.523 |
|
179 |
|
|
LNG011 |
Lung Adenoid Cystic Carcinoma |
35 |
0.523 |
|
180 |
|
|
ADN089 |
Adenosquamous Lung Carcinoma |
49 |
0.523 |
|
181 |
|
|
LNG012 |
Lung Occult Squamous Cell Carcinoma |
20 |
0.523 |
|
182 |
|
|
LNG020 |
Lung Oat Cell Carcinoma |
51 |
0.523 |
|
183 |
|
|
LNG017 |
Lung Giant Cell Carcinoma |
52 |
0.523 |
|
184 |
|
c
|
LNG001 |
Lung Clear Cell Carcinoma |
29 |
0.523 |
|
185 |
|
|
LNG007 |
Lung Mixed Small Cell and Squamous Cell Carcinoma |
21 |
0.523 |
|
186 |
|
|
LNG006 |
Lung Occult Large Cell Carcinoma |
14 |
0.523 |
|
187 |
|
|
LNG002 |
Lung Combined Large Cell Neuroendocrine Carcinoma |
19 |
0.523 |
|
188 |
|
|
ASB002 |
Asbestos-Related Lung Carcinoma |
32 |
0.523 |
|
189 |
|
|
HLR002 |
Hilar Lung Carcinoma |
24 |
0.523 |
|
190 |
|
|
LNG014 |
Lung Superior Sulcus Carcinoma |
15 |
0.523 |
|
191 |
|
P
|
ART067 |
Aortic Aneurysm, Familial Thoracic 1 |
61 |
0.492 |
|
192 |
|
|
MYL005 |
Myelofibrosis |
71 |
0.492 |
|
193 |
|
|
CLL010 |
Cellular Ependymoma |
57 |
0.492 |
|