# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.494 |
|
2 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.410 |
|
3 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.328 |
|
4 |
|
|
OST012 |
Osteoarthritis |
78 |
0.299 |
|
5 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
0.277 |
|
6 |
|
|
HMN044 |
Human Immunodeficiency Virus Type 1 |
71 |
0.257 |
|
7 |
|
|
CRT072 |
Creutzfeldt-Jakob Disease |
70 |
0.256 |
|
8 |
|
|
TTN003 |
Tetanus |
65 |
0.250 |
|
9 |
|
|
DWN001 |
Down Syndrome |
70 |
0.248 |
|
10 |
|
|
DPH001 |
Diphtheria |
60 |
0.241 |
|
11 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.236 |
|
12 |
|
|
48X005 |
48,xyyy |
39 |
0.236 |
|
13 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.222 |
|
14 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
81 |
0.221 |
|
15 |
|
|
ISC004 |
Ischemia |
58 |
0.220 |
|
16 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.218 |
|
17 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.212 |
|
18 |
|
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
0.206 |
|
19 |
|
P
|
ART022 |
Arthritis |
69 |
0.201 |
|
20 |
|
P
|
HPT021 |
Hepatitis |
67 |
0.198 |
|
21 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
0.194 |
|
22 |
|
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.192 |
|
23 |
|
P
|
AMY004 |
Amyloidosis |
70 |
0.189 |
|
24 |
|
P
|
ALP008 |
Alopecia |
54 |
0.188 |
|
25 |
|
P
|
DBT009 |
Diabetes Mellitus |
64 |
0.185 |
|
26 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.184 |
|
27 |
|
c
|
PRM038 |
Primary Agammaglobulinemia |
44 |
0.182 |
|
28 |
|
P
|
EXN002 |
Exanthem |
57 |
0.182 |
|
29 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.182 |
|
30 |
|
|
PPL061 |
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome |
25 |
0.179 |
|
31 |
|
c
|
ACT075 |
Acute Myocardial Infarction |
57 |
0.179 |
|
|
33 |
|
|
47X002 |
47,xyy |
49 |
0.177 |
|
34 |
|
|
DRM006 |
Dermatitis |
61 |
0.173 |
|
35 |
|
|
PLM129 |
Pulmonary Disease, Chronic Obstructive |
73 |
0.172 |
|
36 |
|
|
OST062 |
Osteoarthritis with Mild Chondrodysplasia |
47 |
0.171 |
|
37 |
|
P
|
PSR002 |
Psoriasis |
62 |
0.169 |
|
38 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.168 |
|
39 |
|
|
BNR002 |
Bone Resorption Disease |
48 |
0.166 |
|
40 |
|
|
PST011 |
Pustulosis of Palm and Sole |
52 |
0.166 |
|
41 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.165 |
|
42 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.162 |
|
43 |
|
|
GST106 |
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets |
64 |
0.162 |
|
44 |
|
P
|
DBT026 |
Diabetes Mellitus, Noninsulin-Dependent |
90 |
0.161 |
|
45 |
|
P
|
INF038 |
Influenza |
68 |
0.159 |
|
46 |
|
P
|
DRM053 |
Dermatitis, Atopic |
66 |
0.158 |
|
47 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.149 |
|
48 |
|
P
|
GRF003 |
Graft-Versus-Host Disease |
72 |
0.147 |
|
49 |
|
|
HYP266 |
Hypoxia |
57 |
0.146 |
|
50 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.145 |
|
51 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
60 |
0.144 |
|
52 |
|
P
|
DMN002 |
Dementia |
66 |
0.144 |
|
53 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
0.144 |
|
54 |
|
|
HRW001 |
Hair Whorl |
36 |
0.143 |
|
55 |
|
P
|
ART023 |
Arthropathy |
62 |
0.142 |
|
56 |
|
P
|
INF032 |
Infertility |
57 |
0.140 |
|
57 |
|
P
|
PRD008 |
Periodontitis |
64 |
0.138 |
|
58 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
0.136 |
|
59 |
|
|
HMN014 |
Human Immunodeficiency Virus Infectious Disease |
55 |
0.135 |
|
60 |
|
P
|
TRN020 |
Turner Syndrome |
67 |
0.135 |
|
61 |
|
|
BCT022 |
Bacterial Infectious Disease |
56 |
0.135 |
|
62 |
|
c
|
ACT071 |
Acute Kidney Failure |
60 |
0.134 |
|
63 |
|
|
AGN016 |
Aging |
56 |
0.132 |
|
64 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
0.131 |
|
65 |
|
|
ATX019 |
Ataxia with Vitamin E Deficiency |
42 |
0.130 |
|
66 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.129 |
|
67 |
|
|
STM007 |
Stomatitis |
50 |
0.129 |
|
68 |
|
|
OST017 |
Osteomyelitis |
64 |
0.128 |
|
69 |
|
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
0.127 |
|
70 |
|
|
BRN071 |
Brain Injury |
49 |
0.123 |
|
71 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
66 |
0.121 |
|
72 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
0.119 |
|
73 |
|
|
TLN003 |
Telangiectasis |
52 |
0.118 |
|
74 |
|
c
|
MTR018 |
Maturity-Onset Diabetes of the Young, Type 1 |
62 |
0.117 |
|
75 |
|
|
CRT017 |
Cartilage Disease |
54 |
0.117 |
|
76 |
|
|
INT324 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
58 |
0.113 |
|
77 |
|
c
|
PNS012 |
Paine Syndrome |
61 |
0.112 |
|
78 |
|
|
SPN186 |
Spinal Cord Injury |
60 |
0.111 |
|
79 |
|
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
42 |
0.111 |
|
80 |
|
P
|
PLY019 |
Polyneuropathy |
56 |
0.109 |
|
81 |
|
P
|
MYP004 |
Myopathy |
70 |
0.109 |
|
82 |
|
|
CHL014 |
Cholera |
59 |
0.109 |
|
83 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.109 |
|
84 |
|
c
|
DBT099 |
Diabetes Mellitus, Type I |
65 |
0.109 |
|
85 |
|
c
|
MNN043 |
Meningioma, Familial |
74 |
0.108 |
|
86 |
|
|
MNN042 |
Meningioma, Radiation-Induced |
62 |
0.108 |
|
87 |
|
|
SPN021 |
Spinal Meningioma |
50 |
0.108 |
|
88 |
|
|
SCR001 |
Secretory Meningioma |
41 |
0.108 |
|
89 |
|
|
LYM002 |
Lymphoplasmacyte-Rich Meningioma |
36 |
0.108 |
|
90 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.106 |
|
91 |
|
|
SPL018 |
Splenomegaly |
48 |
0.106 |
|
92 |
|
|
BCK006 |
Back Pain |
42 |
0.106 |
|
93 |
|
|
OST003 |
Osteonecrosis |
61 |
0.105 |
|
94 |
|
P
|
CHN012 |
Chondrosarcoma |
56 |
0.105 |
|
95 |
|
P
|
LTR001 |
Lateral Sclerosis |
54 |
0.102 |
|
96 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.100 |
|
97 |
|
c
|
EPS039 |
Episodic Pain Syndrome, Familial, 1 |
42 |
0.098 |
|
98 |
|
P
|
MNN013 |
Meningitis |
66 |
0.098 |
|
99 |
|
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
62 |
0.097 |
|
100 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
0.096 |
|
101 |
|
|
ERY051 |
Erythroleukemia, Familial |
56 |
0.094 |
|
102 |
|
c
|
PSR018 |
Psoriasis 13 |
41 |
0.094 |
|
103 |
|
|
EYD002 |
Eye Disease |
58 |
0.092 |
|
104 |
|
|
FSC004 |
Fasciitis |
50 |
0.092 |
|
105 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
0.092 |
|
106 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
0.091 |
|
107 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
0.091 |
|
108 |
|
|
SYN007 |
Synovitis |
54 |
0.091 |
|
109 |
|
|
PLC002 |
Plica Syndrome |
36 |
0.091 |
|
110 |
|
|
ENT004 |
Enthesopathy |
49 |
0.089 |
|
111 |
|
P
|
SBS003 |
Substance Abuse |
55 |
0.087 |
|
112 |
|
|
THR123 |
Thrombotic Microangiopathy |
36 |
0.087 |
|
113 |
|
|
AMN001 |
Amenorrhea |
54 |
0.087 |
|
114 |
|
P
|
CNR004 |
Cone-Rod Dystrophy 2 |
73 |
0.087 |
|
115 |
|
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
34 |
0.086 |
|
116 |
|
c
|
PSR017 |
Psoriasis 2 |
53 |
0.079 |
|
117 |
|
c
|
PSR023 |
Psoriasis 1 |
52 |
0.079 |
|
118 |
|
c
|
PSR032 |
Psoriasis 11 |
47 |
0.079 |
|
119 |
|
c
|
PSR028 |
Psoriasis 7 |
42 |
0.079 |
|
120 |
|
|
CNN005 |
Connective Tissue Disease |
68 |
0.079 |
|
121 |
|
P
|
AVS003 |
Avascular Necrosis |
42 |
0.077 |
|
122 |
|
|
KRT006 |
Keratoconjunctivitis |
53 |
0.074 |
|
123 |
|
|
SCK003 |
Sickle Cell Anemia |
74 |
0.074 |
|
124 |
|
|
LPT014 |
Leptin Deficiency or Dysfunction |
74 |
0.074 |
|
125 |
|
|
APH002 |
Aphasia |
57 |
0.073 |
|
126 |
|
c
|
LPM012 |
Lipomatosis, Multiple |
60 |
0.072 |
|
127 |
|
P
|
SNS001 |
Sensorineural Hearing Loss |
60 |
0.072 |
|
128 |
|
c
|
HRD202 |
Hereditary Lymphedema I |
50 |
0.071 |
|
129 |
|
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
33 |
0.069 |
|
130 |
|
|
NRM004 |
Neuroma |
51 |
0.062 |
|
131 |
|
c
|
DNT047 |
Dentinogenesis Imperfecta Type 2 |
31 |
0.062 |
|
132 |
|
|
OST115 |
Osteonecrosis of the Jaw |
40 |
0.061 |
|
133 |
|
|
GNG003 |
Gingival Recession |
44 |
0.060 |
|
134 |
|
|
VLV032 |
Vulva Cancer |
59 |
0.055 |
|