# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
ATS479 |
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Jak1 Deficiency |
2 |
4.692 |
|
2 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
4.670 |
|
3 |
|
c
|
HPT001 |
Hepatitis C |
62 |
4.049 |
|
4 |
|
P
|
LKM002 |
Leukemia |
68 |
3.836 |
|
5 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
3.775 |
|
6 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
3.700 |
|
7 |
|
P
|
BRS047 |
Breast Cancer |
97 |
3.700 |
|
8 |
|
|
PLY001 |
Polycythemia Vera |
69 |
3.458 |
|
9 |
|
|
END057 |
Endometrial Cancer |
74 |
3.357 |
|
10 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
3.337 |
|
11 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
3.289 |
|
12 |
|
P
|
HPT021 |
Hepatitis |
67 |
3.289 |
|
13 |
|
P
|
PLY018 |
Polycythemia |
56 |
2.999 |
|
14 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
2.999 |
|
15 |
|
P
|
PSR002 |
Psoriasis |
62 |
2.964 |
|
16 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
86 |
2.877 |
|
17 |
|
|
MSL001 |
Measles |
62 |
2.877 |
|
18 |
|
|
BRK010 |
Burkitt Lymphoma |
67 |
2.849 |
|
19 |
|
|
MYL005 |
Myelofibrosis |
70 |
2.584 |
|
20 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
2.556 |
|
21 |
|
|
TCL027 |
T-Cell Acute Lymphoblastic Leukemia |
51 |
2.455 |
|
22 |
|
|
BRS112 |
Breast Implant-Associated Anaplastic Large Cell Lymphoma |
35 |
2.412 |
|
23 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
2.387 |
|
24 |
|
|
PRL017 |
Prolymphocytic Leukemia |
47 |
2.387 |
|
25 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
68 |
2.359 |
|
26 |
|
|
SVR066 |
Severe Combined Immunodeficiency, X-Linked |
66 |
2.359 |
|
27 |
|
|
ACT119 |
Acute Promyelocytic Leukemia |
63 |
2.359 |
|
28 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
2.359 |
|
29 |
|
c
|
ATM006 |
Autoimmune Lymphoproliferative Syndrome |
74 |
2.326 |
|
30 |
|
|
MTH009 |
Mouth Disease |
56 |
2.326 |
|
31 |
|
|
CLN019 |
Colonic Disease |
47 |
2.326 |
|
32 |
|
|
LYM138 |
Lymphoblastic Leukemia, Acute, with Lymphomatous Features |
49 |
1.817 |
|
33 |
|
c
|
LKM061 |
Leukemia, Acute Myeloid |
84 |
1.797 |
|
34 |
|
c
|
TCL005 |
T-Cell Prolymphocytic Leukemia |
49 |
1.722 |
|
35 |
|
|
LKM073 |
Leukemia, Acute, X-Linked |
10 |
1.722 |
|
36 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
1.688 |
|
37 |
|
c
|
STN011 |
Sting-Associated Vasculopathy with Onset in Infancy |
45 |
1.688 |
|
38 |
|
|
HRP004 |
Herpes Zoster |
60 |
1.645 |
|
39 |
|
|
ALP097 |
Alopecia Universalis Congenita |
59 |
1.645 |
|
40 |
|
|
CMB003 |
Combined T Cell and B Cell Immunodeficiency |
49 |
1.645 |
|
41 |
|
|
WRN003 |
Wernicke Encephalopathy |
47 |
1.645 |
|
42 |
|
|
BNM001 |
Bone Marrow Cancer |
43 |
1.645 |
|
43 |
|
|
NSP002 |
Nasopharyngitis |
43 |
1.645 |
|
44 |
|
|
MXD003 |
Mixed Lacrimal Gland Cancer |
30 |
1.645 |
|
45 |
|
|
JK3001 |
Jak3-Deficient Severe Combined Immunodeficiency |
29 |
1.645 |
|
46 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.189 |
|
47 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.189 |
|
48 |
|
|
SPL018 |
Splenomegaly |
48 |
0.139 |
|
49 |
|
|
MYL031 |
Myeloproliferative Neoplasm |
66 |
0.117 |
|
50 |
|
|
PST011 |
Pustulosis of Palm and Sole |
52 |
0.117 |
|
51 |
|
|
PRC049 |
Precursor T-Cell Acute Lymphoblastic Leukemia |
48 |
0.117 |
|
52 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
0.105 |
|
53 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.105 |
|
54 |
|
P
|
ESS003 |
Essential Thrombocythemia |
68 |
0.105 |
|
55 |
|
|
SKN016 |
Skin Disease |
63 |
0.105 |
|
56 |
|
|
DRM006 |
Dermatitis |
61 |
0.105 |
|
57 |
|
P
|
GRF003 |
Graft-Versus-Host Disease |
72 |
0.091 |
|
58 |
|
P
|
DRM053 |
Dermatitis, Atopic |
66 |
0.091 |
|
59 |
|
P
|
ANP001 |
Anaplastic Large Cell Lymphoma |
58 |
0.091 |
|
60 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.091 |
|
61 |
|
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
33 |
0.091 |
|
62 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.074 |
|
63 |
|
P
|
ART022 |
Arthritis |
69 |
0.074 |
|
64 |
|
P
|
THR014 |
Thrombocytopenia |
67 |
0.074 |
|
65 |
|
|
ALL003 |
Allergic Rhinitis |
67 |
0.074 |
|
66 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
67 |
0.074 |
|
67 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.074 |
|
68 |
|
P
|
NTR004 |
Neutropenia |
63 |
0.074 |
|
69 |
|
P
|
LMY004 |
Leiomyosarcoma |
63 |
0.074 |
|
70 |
|
|
PSR001 |
Psoriatic Arthritis |
61 |
0.074 |
|
71 |
|
P
|
VTL004 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
60 |
0.074 |
|
72 |
|
|
ADN018 |
Adenoma |
59 |
0.074 |
|
73 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.074 |
|
74 |
|
P
|
RHN004 |
Rhinitis |
57 |
0.074 |
|
75 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
0.074 |
|
76 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.074 |
|
77 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
55 |
0.074 |
|
78 |
|
c
|
ACT135 |
Acute Graft Versus Host Disease |
52 |
0.074 |
|
79 |
|
c
|
VTL009 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
42 |
0.074 |
|
80 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
81 |
0.052 |
|
81 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.052 |
|
82 |
|
|
INS024 |
Insulin-Like Growth Factor I |
79 |
0.052 |
|
83 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.052 |
|
84 |
|
|
CRH001 |
Crohn's Disease |
74 |
0.052 |
|
85 |
|
|
ULC004 |
Ulcerative Colitis |
73 |
0.052 |
|
86 |
|
c
|
HPT073 |
Hepatitis C Virus |
72 |
0.052 |
|
87 |
|
P
|
MLN008 |
Melanoma |
69 |
0.052 |
|
88 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
69 |
0.052 |
|
89 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.052 |
|
90 |
|
|
SKN019 |
Skin Melanoma |
68 |
0.052 |
|
91 |
|
P
|
FLL037 |
Follicular Lymphoma |
67 |
0.052 |
|
92 |
|
|
MYX005 |
Myxoid Liposarcoma |
66 |
0.052 |
|
93 |
|
|
SRC014 |
Sarcoma |
65 |
0.052 |
|
94 |
|
P
|
LPS002 |
Liposarcoma |
65 |
0.052 |
|
95 |
|
|
SPT006 |
Septooptic Dysplasia |
64 |
0.052 |
|
96 |
|
|
MGK001 |
Megakaryocytic Leukemia |
64 |
0.052 |
|
97 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
0.052 |
|
98 |
|
c
|
MLG084 |
Malignant Fibrous Histiocytoma |
63 |
0.052 |
|
99 |
|
|
CLT003 |
Colitis |
62 |
0.052 |
|
100 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.052 |
|
101 |
|
P
|
LPS004 |
Lupus Erythematosus |
61 |
0.052 |
|
102 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.052 |
|
103 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.052 |
|
104 |
|
|
DNG002 |
Dengue Hemorrhagic Fever |
60 |
0.052 |
|
105 |
|
|
SPP011 |
Suppression of Tumorigenicity 12 |
59 |
0.052 |
|
106 |
|
c
|
DNG003 |
Dengue Disease |
59 |
0.052 |
|
107 |
|
P
|
DNG005 |
Dengue Virus |
59 |
0.052 |
|
108 |
|
|
SRC027 |
Sarcoma, Synovial |
58 |
0.052 |
|
109 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
0.052 |
|
110 |
|
|
CNT047 |
Contact Dermatitis |
58 |
0.052 |
|
111 |
|
|
CST005 |
Castleman Disease |
57 |
0.052 |
|
112 |
|
P
|
ADL017 |
Adult T-Cell Leukemia |
56 |
0.052 |
|
113 |
|
|
ALL006 |
Allergic Asthma |
56 |
0.052 |
|
114 |
|
|
ERY051 |
Erythroleukemia, Familial |
56 |
0.052 |
|
115 |
|
|
SFT003 |
Soft Tissue Sarcoma |
56 |
0.052 |
|
116 |
|
|
ALL010 |
Allergic Contact Dermatitis |
56 |
0.052 |
|
117 |
|
|
CLF004 |
Cleft Lip/palate |
54 |
0.052 |
|
118 |
|
P
|
ALP008 |
Alopecia |
54 |
0.052 |
|
119 |
|
|
THR013 |
Thoracic Outlet Syndrome |
54 |
0.052 |
|
120 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
54 |
0.052 |
|
121 |
|
|
PRP036 |
Peripheral T-Cell Lymphoma |
53 |
0.052 |
|
122 |
|
P
|
HYP083 |
Hypopituitarism |
53 |
0.052 |
|
123 |
|
|
CLF001 |
Cleft Lip |
53 |
0.052 |
|
124 |
|
|
SPN035 |
Spindle Cell Sarcoma |
53 |
0.052 |
|
125 |
|
c
|
PSR017 |
Psoriasis 2 |
53 |
0.052 |
|
126 |
|
c
|
MCR113 |
Microvascular Complications of Diabetes 3 |
52 |
0.052 |
|
127 |
|
c
|
PSR023 |
Psoriasis 1 |
52 |
0.052 |
|
128 |
|
|
ILS001 |
Ileus |
51 |
0.052 |
|
129 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.052 |
|
130 |
|
|
HYP017 |
Hypophosphatemia |
50 |
0.052 |
|
131 |
|
|
47X002 |
47,xyy |
49 |
0.052 |
|
132 |
|
|
BLY001 |
B-Lymphoblastic Leukemia/lymphoma |
48 |
0.052 |
|
133 |
|
c
|
PSR032 |
Psoriasis 11 |
47 |
0.052 |
|
134 |
|
|
RNL077 |
Renal Fibrosis |
47 |
0.052 |
|
135 |
|
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
0.052 |
|
136 |
|
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
47 |
0.052 |
|
137 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
47 |
0.052 |
|
138 |
|
|
NDL013 |
Nodular Regenerative Hyperplasia |
47 |
0.052 |
|
139 |
|
|
DRG026 |
Drug Reaction with Eosinophilia and Systemic Symptoms |
46 |
0.052 |
|
140 |
|
|
MLT073 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
44 |
0.052 |
|
141 |
|
|
HPT067 |
Hepatocellular Adenoma |
44 |
0.052 |
|
142 |
|
|
CHL152 |
Childhood Acute Lymphocytic Leukemia |
44 |
0.052 |
|
143 |
|
c
|
TCL001 |
T-Cell Adult Acute Lymphocytic Leukemia |
43 |
0.052 |
|
144 |
|
|
MXD050 |
Mixed Phenotype Acute Leukemia |
43 |
0.052 |
|
145 |
|
c
|
PSR028 |
Psoriasis 7 |
42 |
0.052 |
|
146 |
|
P
|
STN012 |
Sting-Associated Vasculopathy, Infantile-Onset |
42 |
0.052 |
|
147 |
|
c
|
MCR130 |
Microvascular Complications of Diabetes 6 |
41 |
0.052 |
|
148 |
|
c
|
MCR133 |
Microvascular Complications of Diabetes 4 |
41 |
0.052 |
|
149 |
|
c
|
PSR018 |
Psoriasis 13 |
41 |
0.052 |
|
150 |
|
|
LRG008 |
Large Granular Lymphocyte Leukemia |
41 |
0.052 |
|
151 |
|
P
|
MLG074 |
Malignant Mesenchymoma |
40 |
0.052 |
|
152 |
|
|
ALL014 |
Allergic Encephalomyelitis |
38 |
0.052 |
|
153 |
|
|
SYS071 |
Systemic Autoimmune Disease |
37 |
0.052 |
|
154 |
|
|
ATY012 |
Atypical Mycobacteriosis, Familial |
35 |
0.052 |
|
155 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
0.052 |
|
156 |
|
c
|
CNG608 |
Congenital Hypopituitarism |
30 |
0.052 |
|