# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
c
|
BRC079 |
Brachydactyly, Type A2 |
51 |
3.739 |
|
2 |
|
c
|
HMC039 |
Hemochromatosis, Type 1 |
74 |
3.726 |
|
3 |
|
P
|
LNG032 |
Lung Cancer |
98 |
3.609 |
|
4 |
|
P
|
BRS047 |
Breast Cancer |
97 |
3.362 |
|
5 |
|
|
SHR114 |
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or Without Cardiac Anomalies |
23 |
3.312 |
|
6 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
3.056 |
|
7 |
|
P
|
CRN037 |
Craniosynostosis |
68 |
2.831 |
|
8 |
|
P
|
BRC006 |
Brachydactyly |
53 |
2.779 |
|
9 |
|
P
|
PLM037 |
Pulmonary Hypertension |
67 |
2.759 |
|
10 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
2.759 |
|
11 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
2.714 |
|
12 |
|
P
|
OST002 |
Osteoporosis |
74 |
2.552 |
|
13 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
2.478 |
|
14 |
|
|
OST012 |
Osteoarthritis |
78 |
2.423 |
|
15 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
2.350 |
|
16 |
|
P
|
DBT009 |
Diabetes Mellitus |
64 |
2.350 |
|
17 |
|
|
OST017 |
Osteomyelitis |
64 |
2.350 |
|
18 |
|
P
|
CHN012 |
Chondrosarcoma |
56 |
2.350 |
|
19 |
|
|
PLM014 |
Pleomorphic Adenoma |
52 |
2.350 |
|
20 |
|
|
TRT001 |
Teratocarcinoma |
45 |
2.350 |
|
21 |
|
|
TTH002 |
Tooth Agenesis |
60 |
2.002 |
|
22 |
|
c
|
CRN281 |
Craniosynostosis 7 |
30 |
2.002 |
|
23 |
|
|
OST003 |
Osteonecrosis |
61 |
1.978 |
|
24 |
|
P
|
BND020 |
Bone Disease |
59 |
1.978 |
|
25 |
|
P
|
OTS001 |
Otosclerosis |
49 |
1.978 |
|
26 |
|
|
DFC004 |
Deficiency Anemia |
70 |
1.951 |
|
27 |
|
|
WLF001 |
Wolff-Parkinson-White Syndrome |
66 |
1.951 |
|
28 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
1.951 |
|
29 |
|
|
IRN001 |
Iron Deficiency Anemia |
59 |
1.951 |
|
30 |
|
P
|
BNC003 |
Bone Cancer |
58 |
1.951 |
|
31 |
|
|
DNT012 |
Dental Caries |
53 |
1.951 |
|
32 |
|
|
DGN001 |
Degenerative Disc Disease |
48 |
1.951 |
|
33 |
|
|
GLC086 |
Glucocorticoid-Induced Osteoporosis |
43 |
1.951 |
|
34 |
|
|
TYM001 |
Tympanosclerosis |
38 |
1.951 |
|
35 |
|
|
PTT001 |
Pituitary Hypoplasia |
34 |
1.951 |
|
36 |
|
c
|
ART115 |
Aortic Valve Disease 1 |
75 |
1.919 |
|
37 |
|
c
|
BSL007 |
Basal Cell Carcinoma |
68 |
1.919 |
|
38 |
|
P
|
JVN014 |
Juvenile Polyposis Syndrome |
68 |
1.919 |
|
39 |
|
|
FBR011 |
Fibrodysplasia Ossificans Progressiva |
67 |
1.919 |
|
40 |
|
c
|
ART101 |
Aortic Valve Disease 2 |
65 |
1.919 |
|
41 |
|
|
BLD131 |
Bladder Urothelial Carcinoma |
62 |
1.919 |
|
42 |
|
|
OSS012 |
Osseous Heteroplasia, Progressive |
61 |
1.919 |
|
43 |
|
|
END081 |
Endosteal Hyperostosis, Autosomal Dominant |
60 |
1.919 |
|
44 |
|
|
DST005 |
Diastrophic Dysplasia |
58 |
1.919 |
|
45 |
|
|
PLM026 |
Pilomatrixoma |
58 |
1.919 |
|
46 |
|
P
|
MYP006 |
Myopia |
55 |
1.919 |
|
47 |
|
|
ANK001 |
Ankylosis |
51 |
1.919 |
|
48 |
|
|
BLL004 |
Bullous Keratopathy |
49 |
1.919 |
|
49 |
|
P
|
FBR025 |
Fibrochondrogenesis |
48 |
1.919 |
|
50 |
|
|
HYP025 |
Hyperphosphatemia |
48 |
1.919 |
|
51 |
|
|
BRN032 |
Brain Glioma |
45 |
1.919 |
|
52 |
|
|
RFR003 |
Refractive Error |
43 |
1.919 |
|
53 |
|
|
BNR002 |
Bone Resorption Disease |
48 |
1.503 |
|
54 |
|
|
OSS014 |
Ossification of the Posterior Longitudinal Ligament of Spine |
49 |
1.431 |
|
55 |
|
|
20P001 |
20p12.3 Microdeletion Syndrome |
15 |
1.431 |
|
56 |
|
|
EXS001 |
Exostosis |
46 |
1.399 |
|
57 |
|
P
|
ORF002 |
Orofacial Cleft |
44 |
1.399 |
|
58 |
|
|
BRT054 |
Brittle Bone Disorder |
72 |
1.357 |
|
59 |
|
|
ODN023 |
Odontochondrodysplasia |
68 |
1.357 |
|
60 |
|
|
CHR619 |
Chromosome 2q35 Duplication Syndrome |
62 |
1.357 |
|
61 |
|
P
|
OST009 |
Osteochondritis Dissecans |
62 |
1.357 |
|
62 |
|
|
CRT017 |
Cartilage Disease |
54 |
1.357 |
|
63 |
|
|
OST032 |
Osteofibrous Dysplasia |
51 |
1.357 |
|
64 |
|
|
SPN019 |
Spondylolisthesis |
51 |
1.357 |
|
65 |
|
|
RDC002 |
Radiculopathy |
50 |
1.357 |
|
66 |
|
|
DYS160 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
49 |
1.357 |
|
67 |
|
|
SPN020 |
Spondylosis |
46 |
1.357 |
|
68 |
|
P
|
PRX021 |
Proximal Symphalangism |
46 |
1.357 |
|
69 |
|
|
KTL001 |
Keutel Syndrome |
45 |
1.357 |
|
70 |
|
|
SYN005 |
Synostosis |
45 |
1.357 |
|
71 |
|
P
|
OST028 |
Osteochondroma |
45 |
1.357 |
|
72 |
|
|
GNG003 |
Gingival Recession |
44 |
1.357 |
|
73 |
|
P
|
AVS003 |
Avascular Necrosis |
42 |
1.357 |
|
74 |
|
|
DNT014 |
Dental Pulp Disease |
42 |
1.357 |
|
75 |
|
|
SYN031 |
Synovial Chondromatosis |
42 |
1.357 |
|
76 |
|
|
DNT006 |
Dental Pulp Necrosis |
41 |
1.357 |
|
77 |
|
|
PLY021 |
Polyradiculopathy |
41 |
1.357 |
|
78 |
|
c
|
BRC080 |
Brachydactyly, Type A1, B |
38 |
1.357 |
|
79 |
|
|
TTH008 |
Tooth Resorption |
37 |
1.357 |
|
80 |
|
P
|
BND014 |
Bone Development Disease |
33 |
1.357 |
|
81 |
|
c
|
ADL015 |
Adult Liposarcoma |
33 |
1.357 |
|
82 |
|
|
BNR001 |
Bone Remodeling Disease |
28 |
1.357 |
|
83 |
|
|
ISC005 |
Ischemic Bone Disease |
27 |
1.357 |
|
84 |
|
|
TTH001 |
Tooth Ankylosis |
26 |
1.357 |
|
85 |
|
|
BND004 |
Bone Deterioration Disease |
24 |
1.357 |
|
86 |
|
|
BNS002 |
Bone Structure Disease |
24 |
1.357 |
|
87 |
|
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
0.142 |
|
88 |
|
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
42 |
0.142 |
|
89 |
|
|
HMS001 |
Hemosiderosis |
54 |
0.112 |
|
90 |
|
P
|
RRH023 |
Rare Hereditary Hemochromatosis |
41 |
0.112 |
|
91 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.087 |
|
92 |
|
c
|
PLM164 |
Pulmonary Hypertension, Primary, 1 |
75 |
0.087 |
|
93 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.087 |
|
94 |
|
c
|
CHR684 |
Chronic Kidney Disease |
70 |
0.087 |
|
95 |
|
P
|
VNT002 |
Ventricular Septal Defect |
60 |
0.087 |
|
96 |
|
|
CLF001 |
Cleft Lip |
53 |
0.087 |
|
97 |
|
P
|
DNT011 |
Dentinogenesis Imperfecta |
52 |
0.087 |
|
98 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.087 |
|
99 |
|
P
|
ALG028 |
Alagille Syndrome 1 |
73 |
0.071 |
|
100 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.071 |
|
101 |
|
P
|
NSP012 |
Nasopharyngeal Carcinoma |
66 |
0.071 |
|
102 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.071 |
|
103 |
|
|
ADN018 |
Adenoma |
59 |
0.071 |
|
104 |
|
P
|
AML002 |
Amelogenesis Imperfecta |
55 |
0.071 |
|
105 |
|
P
|
SCL048 |
Sclerosteosis |
55 |
0.071 |
|
106 |
|
|
CLF004 |
Cleft Lip/palate |
54 |
0.071 |
|
107 |
|
P
|
PRR016 |
Pierre Robin Syndrome |
52 |
0.071 |
|
108 |
|
|
48X005 |
48,xyyy |
39 |
0.071 |
|
109 |
|
|
ISL075 |
Isolated Pierre Robin Sequence |
29 |
0.071 |
|
110 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.050 |
|
111 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.050 |
|
112 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.050 |
|
113 |
|
P
|
GLM040 |
Glioma Susceptibility 1 |
81 |
0.050 |
|
114 |
|
c
|
CWD006 |
Cowden Syndrome 1 |
78 |
0.050 |
|
115 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.050 |
|
116 |
|
c
|
NRF024 |
Neurofibromatosis, Type I |
77 |
0.050 |
|
117 |
|
|
LPT014 |
Leptin Deficiency or Dysfunction |
74 |
0.050 |
|
118 |
|
c
|
SPN225 |
Spondyloarthropathy 1 |
73 |
0.050 |
|
119 |
|
|
OTT002 |
Otitis Media |
72 |
0.050 |
|
120 |
|
P
|
CWD010 |
Cowden Syndrome |
67 |
0.050 |
|
121 |
|
|
CRB039 |
Cerebrovascular Disease |
67 |
0.050 |
|
122 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.050 |
|
123 |
|
P
|
HRS035 |
Hirschsprung Disease 1 |
65 |
0.050 |
|
124 |
|
P
|
PRT008 |
Proteus Syndrome |
64 |
0.050 |
|
125 |
|
|
CLR108 |
Colorectal Adenoma |
64 |
0.050 |
|
126 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
0.050 |
|
127 |
|
P
|
HYP069 |
Hyperparathyroidism |
63 |
0.050 |
|
128 |
|
P
|
END044 |
Endometriosis |
63 |
0.050 |
|
129 |
|
P
|
PNC044 |
Pancreatitis |
61 |
0.050 |
|
130 |
|
|
LNG099 |
Lung Disease |
60 |
0.050 |
|
131 |
|
P
|
THL005 |
Thalassemia |
60 |
0.050 |
|
132 |
|
P
|
ALC033 |
Alcohol Use Disorder |
58 |
0.050 |
|
133 |
|
|
IRN002 |
Iron Metabolism Disease |
57 |
0.050 |
|
134 |
|
P
|
MYS005 |
Myositis |
56 |
0.050 |
|
135 |
|
|
SFT003 |
Soft Tissue Sarcoma |
56 |
0.050 |
|
136 |
|
P
|
NRF002 |
Neurofibromatosis |
56 |
0.050 |
|
137 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
54 |
0.050 |
|
138 |
|
|
PRS045 |
Prostatic Hypertrophy |
53 |
0.050 |
|
139 |
|
|
GST009 |
Gastroschisis |
53 |
0.050 |
|
140 |
|
P
|
HYP083 |
Hypopituitarism |
53 |
0.050 |
|
|
142 |
|
P
|
OVR049 |
Ovarian Disease |
52 |
0.050 |
|
143 |
|
|
SPN051 |
Spondylitis |
51 |
0.050 |
|
144 |
|
|
CLR109 |
Colorectal Adenocarcinoma |
51 |
0.050 |
|
145 |
|
c
|
HMC021 |
Hemochromatosis, Type 2a |
51 |
0.050 |
|
146 |
|
|
MTT002 |
Metatropic Dysplasia |
50 |
0.050 |
|
147 |
|
c
|
HMC009 |
Hemochromatosis Type 2 |
50 |
0.050 |
|
148 |
|
|
HRT011 |
Heart Septal Defect |
50 |
0.050 |
|
149 |
|
|
RNL078 |
Renal Dysplasia |
50 |
0.050 |
|
150 |
|
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
0.050 |
|
151 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.050 |
|
152 |
|
|
CLF056 |
Cleft Lip with or Without Cleft Palate |
47 |
0.050 |
|
153 |
|
|
GRW007 |
Growth Hormone Deficiency |
46 |
0.050 |
|
154 |
|
c
|
CRN278 |
Craniosynostosis 1 |
45 |
0.050 |
|
155 |
|
|
SPP008 |
Suppurative Otitis Media |
45 |
0.050 |
|
156 |
|
|
DWR001 |
Dwarfism |
44 |
0.050 |
|
157 |
|
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
42 |
0.050 |
|
158 |
|
|
SKL017 |
Skeletal Dysplasias |
40 |
0.050 |
|
159 |
|
c
|
BRD021 |
Bardet-Biedl Syndrome 9 |
39 |
0.050 |
|
160 |
|
|
RVL002 |
Ruvalcaba Syndrome |
37 |
0.050 |
|
161 |
|
|
ABD010 |
Abdominal Wall Defect |
36 |
0.050 |
|
162 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
34 |
0.050 |
|
163 |
|
c
|
CHR097 |
Chronic Purulent Otitis Media |
33 |
0.050 |
|
164 |
|
c
|
BNM018 |
Bone Mineral Density Quantitative Trait Locus 3 |
33 |
0.050 |
|
165 |
|
|
INF009 |
Inflammatory Spondylopathy |
31 |
0.050 |
|
166 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.050 |
|
167 |
|
c
|
CNG608 |
Congenital Hypopituitarism |
30 |
0.050 |
|
168 |
|
P
|
HYP658 |
Hypoplastic Amelogenesis Imperfecta |
25 |
0.050 |
|
169 |
|
|
LSN001 |
Lesion of Sciatic Nerve |
25 |
0.050 |
|
170 |
|
|
ECT085 |
Ectopia Cordis |
20 |
0.050 |
|
171 |
|
|
CNG284 |
Congenital Pseudoarthrosis of the Tibia |
18 |
0.050 |
|
172 |
|
c
|
BNM021 |
Bone Mineral Density Quantitative Trait Locus 7 |
13 |
0.050 |
|