# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
MBD001 |
Mbd5 Haploinsufficiency |
41 |
23.741 |
|
2 |
|
c
|
PRC016 |
Pre-Eclampsia |
65 |
21.767 |
|
3 |
|
P
|
PLM037 |
Pulmonary Hypertension |
72 |
14.417 |
|
4 |
|
|
CHN010 |
Chondroma |
43 |
13.455 |
|
5 |
|
P
|
MLT072 |
Multiple Synostoses Syndrome |
44 |
11.772 |
|
6 |
|
|
FBR011 |
Fibrodysplasia Ossificans Progressiva |
67 |
11.772 |
|
7 |
|
|
SYN031 |
Synovial Chondromatosis |
41 |
10.617 |
|
8 |
|
|
DPN005 |
Du Pan Syndrome |
47 |
8.324 |
|
9 |
|
c
|
BRC079 |
Brachydactyly, Type A2 |
50 |
8.324 |
|
10 |
|
P
|
ECL001 |
Eclampsia |
52 |
6.021 |
|
11 |
|
P
|
GST053 |
Gastric Cancer |
83 |
3.633 |
|
12 |
|
P
|
CLR023 |
Colorectal Cancer |
100 |
2.983 |
|
13 |
|
P
|
CHN012 |
Chondrosarcoma |
57 |
2.464 |
|
14 |
|
|
HYP080 |
Hypogonadism |
50 |
2.432 |
|
15 |
|
|
HLL004 |
Hellp Syndrome |
53 |
2.296 |
|
16 |
|
P
|
BRS047 |
Breast Cancer |
98 |
2.215 |
|
17 |
|
|
GST103 |
Gastric Cancer, Hereditary Diffuse |
68 |
2.021 |
|
18 |
|
|
SML009 |
Small Intestine Adenocarcinoma |
57 |
2.021 |
|
|
20 |
|
P
|
BND020 |
Bone Disease |
59 |
1.773 |
|
21 |
|
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
60 |
1.751 |
|
22 |
|
c
|
CLR087 |
Colorectal Cancer 12 |
34 |
1.751 |
|
23 |
|
P
|
AST005 |
Asthma |
76 |
1.683 |
|
24 |
|
|
HYP266 |
Hypoxia |
57 |
1.558 |
|
25 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
1.432 |
|
26 |
|
P
|
PRS040 |
Prostate Cancer |
95 |
1.432 |
|
27 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
1.429 |
|
|
29 |
|
|
CRB037 |
Cerebral Palsy |
67 |
1.422 |
|
30 |
|
P
|
PNC035 |
Pancreatic Cancer |
86 |
1.389 |
|
31 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
1.272 |
|
32 |
|
P
|
ALP008 |
Alopecia |
54 |
1.272 |
|
33 |
|
P
|
LYN001 |
Lynch Syndrome |
76 |
1.272 |
|
34 |
|
|
TXC005 |
Toxic Shock Syndrome |
62 |
1.272 |
|
35 |
|
|
PRM013 |
Premature Menopause |
58 |
1.272 |
|
36 |
|
P
|
PLY011 |
Polycystic Ovary Syndrome |
57 |
1.272 |
|
37 |
|
c
|
SVR005 |
Severe Pre-Eclampsia |
50 |
1.272 |
|
38 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
96 |
1.220 |
|
39 |
|
P
|
LNG032 |
Lung Cancer |
98 |
1.169 |
|
40 |
|
|
ESP021 |
Esophageal Cancer |
83 |
1.011 |
|
41 |
|
|
GST040 |
Gastric Adenocarcinoma |
67 |
1.011 |
|
42 |
|
|
CHN053 |
Chondromyxoid Fibroma |
39 |
0.900 |
|
43 |
|
|
SRC027 |
Sarcoma, Synovial |
58 |
0.900 |
|
44 |
|
c
|
PLM164 |
Pulmonary Hypertension, Primary, 1 |
76 |
0.900 |
|
45 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
64 |
0.900 |
|
46 |
|
|
DFC004 |
Deficiency Anemia |
74 |
0.900 |
|
47 |
|
|
PRT251 |
Proteinuria, Chronic Benign |
57 |
0.900 |
|
48 |
|
|
OST006 |
Osteoblastoma |
38 |
0.900 |
|
49 |
|
|
CLR108 |
Colorectal Adenoma |
64 |
0.900 |
|
50 |
|
|
ANR009 |
Aneurysmal Bone Cysts |
43 |
0.900 |
|
51 |
|
|
ALV005 |
Alveolar Soft Part Sarcoma |
61 |
0.900 |
|
52 |
|
|
MYL069 |
Myeloma, Multiple |
77 |
0.900 |
|
53 |
|
|
OST160 |
Osteoid Osteoma |
37 |
0.900 |
|
54 |
|
|
FBR054 |
Fibroma |
44 |
0.900 |
|
55 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
0.900 |
|
56 |
|
P
|
MSN005 |
Mesenchymal Chondrosarcoma |
47 |
0.900 |
|
57 |
|
P
|
MLN007 |
Male Infertility |
56 |
0.900 |
|
58 |
|
P
|
ADN016 |
Adenocarcinoma |
63 |
0.900 |
|
59 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
72 |
0.900 |
|
60 |
|
P
|
INF032 |
Infertility |
57 |
0.900 |
|
61 |
|
P
|
TRT010 |
Teratoma |
51 |
0.900 |
|
62 |
|
|
CHN004 |
Chondroblastoma |
41 |
0.900 |
|
63 |
|
|
HRT015 |
Heritable Pulmonary Arterial Hypertension |
46 |
0.900 |
|
64 |
|
|
SFT003 |
Soft Tissue Sarcoma |
57 |
0.900 |
|
65 |
|
|
ENC014 |
Enchondroma |
28 |
0.900 |
|
66 |
|
|
CHR178 |
Chromosomal Triplication |
34 |
0.900 |
|
67 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.874 |
|
68 |
|
|
LMN016 |
Luminal Breast Carcinoma B |
28 |
0.825 |
|
69 |
|
P
|
LMN015 |
Luminal Breast Carcinoma a |
35 |
0.825 |
|
70 |
|
P
|
BLD062 |
Bile Duct Cancer |
67 |
0.825 |
|
71 |
|
|
SNG003 |
Single Ventricular Heart |
30 |
0.636 |
|
72 |
|
P
|
CRN300 |
Coronary Heart Disease 1 |
73 |
0.636 |
|
73 |
|
P
|
MTR004 |
Maturity-Onset Diabetes of the Young |
68 |
0.636 |
|
74 |
|
|
END057 |
Endometrial Cancer |
72 |
0.636 |
|
75 |
|
|
ATM095 |
Autoimmune Disease |
61 |
0.636 |
|
76 |
|
P
|
CLC063 |
Celiac Disease 1 |
66 |
0.636 |
|
77 |
|
P
|
SLP006 |
Sleep Apnea |
69 |
0.636 |
|
78 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
53 |
0.636 |
|
79 |
|
|
MSC007 |
Muscle Hypertrophy |
64 |
0.636 |
|
80 |
|
|
CLT003 |
Colitis |
63 |
0.636 |
|
81 |
|
|
CNV018 |
Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis |
43 |
0.636 |
|
82 |
|
|
PPL035 |
Papillary Thyroid Microcarcinoma |
39 |
0.636 |
|
83 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
68 |
0.636 |
|
84 |
|
c
|
BRD019 |
Bardet-Biedl Syndrome 7 |
43 |
0.636 |
|
85 |
|
c
|
HLP022 |
Holoprosencephaly 8 |
22 |
0.636 |
|
86 |
|
|
CHL065 |
Cholangiocarcinoma |
58 |
0.636 |
|
87 |
|
P
|
PNC045 |
Pancreatic Agenesis |
43 |
0.636 |
|
88 |
|
|
GLC003 |
Glucose Intolerance |
54 |
0.636 |
|
89 |
|
P
|
HLP001 |
Holoprosencephaly |
69 |
0.636 |
|
90 |
|
P
|
DBT009 |
Diabetes Mellitus |
67 |
0.636 |
|
91 |
|
|
ULC004 |
Ulcerative Colitis |
74 |
0.636 |
|
92 |
|
|
47X002 |
47,xyy |
48 |
0.636 |
|
93 |
|
P
|
ALC033 |
Alcohol Use Disorder |
61 |
0.636 |
|
94 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
65 |
0.636 |
|
95 |
|
|
ADN018 |
Adenoma |
59 |
0.636 |
|
96 |
|
|
INT079 |
Intrahepatic Cholangiocarcinoma |
51 |
0.636 |
|
97 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
0.636 |
|
98 |
|
P
|
HYP055 |
Hypoplastic Left Heart Syndrome |
65 |
0.636 |
|
99 |
|
P
|
HYP265 |
Hypotonia |
42 |
0.636 |
|
100 |
|
|
CRC045 |
Carcinoma of Gallbladder and Extrahepatic Biliary Tract |
21 |
0.584 |
|
101 |
|
|
SQM016 |
Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract |
16 |
0.584 |
|
102 |
|
|
IRN008 |
Iron Overload in Africa |
51 |
0.584 |
|
103 |
|
c
|
CHL136 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
57 |
0.584 |
|
104 |
|
|
HPT079 |
Hepatoid Adenocarcinoma |
39 |
0.584 |
|
105 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
63 |
0.584 |
|
106 |
|
|
RJS001 |
Ruijs-Aalfs Syndrome |
47 |
0.584 |
|
107 |
|
c
|
HPT073 |
Hepatitis C Virus |
71 |
0.584 |
|
108 |
|
|
PDT042 |
Pediatric Hepatocellular Carcinoma |
49 |
0.584 |
|
109 |
|
|
LNG039 |
Lung Squamous Cell Carcinoma |
57 |
0.584 |
|
110 |
|
|
DST001 |
Distal Biliary Tract Carcinoma |
24 |
0.584 |
|
111 |
|
c
|
PRG047 |
Progressive Familial Intrahepatic Cholestasis |
64 |
0.584 |
|
112 |
|
|
ADL096 |
Adult Hepatocellular Carcinoma |
60 |
0.584 |
|
113 |
|
|
LNG012 |
Lung Occult Squamous Cell Carcinoma |
20 |
0.584 |
|
114 |
|
|
FBR086 |
Fibrolamellar Carcinoma |
59 |
0.584 |
|
115 |
|
|
HPT011 |
Hepatocellular Clear Cell Carcinoma |
46 |
0.584 |
|
116 |
|
|
LNG007 |
Lung Mixed Small Cell and Squamous Cell Carcinoma |
21 |
0.584 |
|
117 |
|
|
PTY007 |
Pityriasis Rotunda |
26 |
0.584 |
|