# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.234 |
|
2 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.224 |
|
3 |
|
|
BNR002 |
Bone Resorption Disease |
48 |
0.213 |
|
4 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.203 |
|
5 |
|
P
|
SRC025 |
Sarcoidosis 1 |
70 |
0.188 |
|
6 |
|
|
LYM133 |
Lymphoma, Hodgkin, Classic |
69 |
0.174 |
|
7 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.173 |
|
8 |
|
|
48X005 |
48,xyyy |
39 |
0.169 |
|
9 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
34 |
0.167 |
|
10 |
|
c
|
ACT071 |
Acute Kidney Failure |
60 |
0.167 |
|
11 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.160 |
|
12 |
|
|
LYM143 |
Lymphoma, Non-Hodgkin, Familial |
72 |
0.153 |
|
13 |
|
c
|
ACT075 |
Acute Myocardial Infarction |
57 |
0.153 |
|
14 |
|
|
MMM001 |
Mammary Paget's Disease |
53 |
0.149 |
|
|
16 |
|
|
HRW001 |
Hair Whorl |
36 |
0.134 |
|
17 |
|
|
LNG099 |
Lung Disease |
60 |
0.133 |
|
18 |
|
|
CYS001 |
Cystic Fibrosis |
81 |
0.131 |
|
19 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.130 |
|
20 |
|
|
OST017 |
Osteomyelitis |
64 |
0.130 |
|
21 |
|
|
ACQ007 |
Acquired Immunodeficiency Syndrome |
60 |
0.129 |
|
22 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.122 |
|
23 |
|
P
|
PGT001 |
Paget's Disease of Bone |
58 |
0.122 |
|
24 |
|
P
|
OST002 |
Osteoporosis |
74 |
0.121 |
|
25 |
|
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
0.119 |
|
26 |
|
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
42 |
0.119 |
|
27 |
|
P
|
VSC007 |
Vascular Disease |
63 |
0.118 |
|
28 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
0.117 |
|
29 |
|
|
HYP266 |
Hypoxia |
57 |
0.117 |
|
30 |
|
|
LYM019 |
Lymphosarcoma |
46 |
0.112 |
|
31 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
0.107 |
|
32 |
|
P
|
ANP001 |
Anaplastic Large Cell Lymphoma |
58 |
0.107 |
|
33 |
|
P
|
TRN020 |
Turner Syndrome |
67 |
0.106 |
|
34 |
|
|
HMN044 |
Human Immunodeficiency Virus Type 1 |
71 |
0.105 |
|
35 |
|
P
|
FLL037 |
Follicular Lymphoma |
67 |
0.105 |
|
36 |
|
P
|
UVT001 |
Uveitis |
57 |
0.104 |
|
37 |
|
|
TXC005 |
Toxic Shock Syndrome |
62 |
0.103 |
|
38 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.102 |
|
39 |
|
c
|
PRS136 |
Prostate Cancer, Hereditary, 6 |
33 |
0.102 |
|
40 |
|
c
|
PRS130 |
Prostate Cancer, Hereditary, 8 |
32 |
0.102 |
|
41 |
|
P
|
HDC001 |
Headache |
57 |
0.099 |
|
42 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.098 |
|
43 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.098 |
|
44 |
|
P
|
OVR082 |
Overgrowth Syndrome |
50 |
0.098 |
|
45 |
|
P
|
PRD008 |
Periodontitis |
64 |
0.098 |
|
46 |
|
|
47X002 |
47,xyy |
49 |
0.095 |
|
47 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.094 |
|
48 |
|
P
|
NTR004 |
Neutropenia |
63 |
0.094 |
|
49 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.094 |
|
50 |
|
|
ATX019 |
Ataxia with Vitamin E Deficiency |
42 |
0.093 |
|
51 |
|
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
33 |
0.093 |
|
52 |
|
P
|
ART022 |
Arthritis |
69 |
0.092 |
|
53 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.092 |
|
54 |
|
P
|
CNJ013 |
Conjunctivitis |
65 |
0.092 |
|
55 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
0.090 |
|
56 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
0.090 |
|
57 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.088 |
|
58 |
|
|
IMM167 |
Immune Deficiency Disease |
78 |
0.086 |
|
59 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.086 |
|
60 |
|
|
ADL002 |
Adult Syndrome |
70 |
0.085 |
|
61 |
|
|
LYM040 |
Lymphoblastic Lymphoma |
54 |
0.085 |
|
62 |
|
|
BCT022 |
Bacterial Infectious Disease |
56 |
0.085 |
|
63 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.085 |
|
64 |
|
P
|
MYC008 |
Myocarditis |
59 |
0.085 |
|
65 |
|
|
BRN028 |
Brain Cancer |
74 |
0.084 |
|
66 |
|
P
|
PNM007 |
Pneumonia |
68 |
0.082 |
|
67 |
|
|
MYC013 |
Mycobacterium Abscessus |
43 |
0.082 |
|
68 |
|
|
THY029 |
Thyroid Carcinoma |
59 |
0.081 |
|
69 |
|
c
|
ATR087 |
Atrial Standstill 1 |
75 |
0.081 |
|
70 |
|
|
GTR002 |
Goiter |
53 |
0.081 |
|
71 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
86 |
0.080 |
|
72 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
0.080 |
|
73 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
65 |
0.080 |
|
74 |
|
c
|
DNT047 |
Dentinogenesis Imperfecta Type 2 |
31 |
0.080 |
|
75 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.080 |
|
76 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
54 |
0.080 |
|
77 |
|
|
KPS004 |
Kaposi Sarcoma |
75 |
0.078 |
|
78 |
|
|
PLM012 |
Pulmonary Sarcoidosis |
53 |
0.078 |
|
79 |
|
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.077 |
|
80 |
|
|
CLT003 |
Colitis |
62 |
0.077 |
|
81 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.077 |
|
82 |
|
|
CNT033 |
Central Nervous System Cancer |
47 |
0.077 |
|
83 |
|
P
|
AMY004 |
Amyloidosis |
70 |
0.077 |
|
84 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
0.077 |
|
85 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
57 |
0.076 |
|
86 |
|
|
STM007 |
Stomatitis |
50 |
0.076 |
|
87 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.076 |
|
88 |
|
|
PRT036 |
Peritonitis |
64 |
0.076 |
|
89 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
79 |
0.075 |
|
90 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.075 |
|
91 |
|
|
IRN002 |
Iron Metabolism Disease |
57 |
0.075 |
|
92 |
|
P
|
LPS004 |
Lupus Erythematosus |
61 |
0.074 |
|
93 |
|
|
ALL014 |
Allergic Encephalomyelitis |
38 |
0.074 |
|
94 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.074 |
|
95 |
|
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
47 |
0.074 |
|
96 |
|
P
|
HYP076 |
Hyperthyroidism |
55 |
0.072 |
|
97 |
|
|
MYC088 |
Mycobacterium Avium Complex Infections |
29 |
0.072 |
|
98 |
|
P
|
BND020 |
Bone Disease |
59 |
0.072 |
|
99 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.071 |
|
100 |
|
P
|
PNC044 |
Pancreatitis |
61 |
0.071 |
|
101 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
67 |
0.071 |
|
102 |
|
|
PRC013 |
Pericarditis |
54 |
0.071 |
|
103 |
|
|
BRN049 |
Brain Tumor, Childhood |
29 |
0.071 |
|
104 |
|
|
PPL061 |
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome |
25 |
0.071 |
|
105 |
|
|
SRC014 |
Sarcoma |
65 |
0.070 |
|
106 |
|
c
|
PRD040 |
Periodontitis, Chronic |
53 |
0.070 |
|
107 |
|
|
SPN035 |
Spindle Cell Sarcoma |
53 |
0.070 |
|
108 |
|
|
ESP021 |
Esophageal Cancer |
90 |
0.068 |
|
109 |
|
c
|
ACT068 |
Acute Cystitis |
63 |
0.068 |
|
110 |
|
P
|
EXN002 |
Exanthem |
57 |
0.068 |
|
111 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.067 |
|
112 |
|
|
PLM001 |
Pulmonary Tuberculosis |
69 |
0.067 |
|
113 |
|
P
|
LKM002 |
Leukemia |
68 |
0.067 |
|
114 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.067 |
|
115 |
|
|
GT001 |
Gout |
64 |
0.067 |
|
116 |
|
|
CRC021 |
Carcinosarcoma |
62 |
0.067 |
|
117 |
|
|
INT066 |
Interstitial Lung Disease |
60 |
0.067 |
|
118 |
|
|
DFF005 |
Diffuse Large B-Cell Lymphoma |
55 |
0.067 |
|
119 |
|
P
|
SML001 |
Small Cell Carcinoma |
52 |
0.067 |
|
120 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
78 |
0.066 |
|
121 |
|
P
|
GRF003 |
Graft-Versus-Host Disease |
72 |
0.066 |
|
122 |
|
|
PRT010 |
Parathyroid Carcinoma |
67 |
0.066 |
|
123 |
|
P
|
HYP726 |
Hypercalcemia, Infantile, 1 |
58 |
0.066 |
|
124 |
|
|
HMS001 |
Hemosiderosis |
54 |
0.066 |
|
125 |
|
|
PLS025 |
Plasmablastic Lymphoma |
47 |
0.066 |
|
126 |
|
|
RTR008 |
Root Resorption |
45 |
0.066 |
|
127 |
|
|
LYM126 |
Lymphoma Aids Related |
44 |
0.066 |
|
128 |
|
|
IMM166 |
Immunodeficiency 27a |
39 |
0.066 |
|
129 |
|
|
LYM048 |
Lymphoma, Large-Cell, Immunoblastic |
29 |
0.066 |
|
130 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
66 |
0.065 |
|
131 |
|
|
DBT010 |
Diabetic Neuropathy |
54 |
0.065 |
|
132 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
44 |
0.065 |
|
133 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.064 |
|
134 |
|
|
OST003 |
Osteonecrosis |
61 |
0.064 |
|
135 |
|
P
|
OPT006 |
Optic Nerve Disease |
60 |
0.064 |
|
136 |
|
P
|
CYS018 |
Cystitis |
59 |
0.064 |
|
137 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.064 |
|
138 |
|
|
KRT019 |
Keratitis, Hereditary |
65 |
0.062 |
|
139 |
|
|
SKN016 |
Skin Disease |
63 |
0.062 |
|
140 |
|
P
|
SCK005 |
Sickle Cell Disease |
50 |
0.062 |
|
141 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.062 |
|
142 |
|
|
HMP009 |
Haemophilus Influenzae |
43 |
0.062 |
|
143 |
|
P
|
PHC003 |
Pheochromocytoma |
71 |
0.061 |
|
144 |
|
|
TRN018 |
Transitional Cell Carcinoma |
56 |
0.061 |
|
145 |
|
|
ADR040 |
Adrenal Gland Pheochromocytoma |
46 |
0.061 |
|
146 |
|
|
INT324 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
58 |
0.060 |
|
147 |
|
|
TCL028 |
T-Cell Lymphoblastic Leukemia/lymphoma |
47 |
0.060 |
|
148 |
|
c
|
LKM005 |
Leukemia, T-Cell, Chronic |
34 |
0.060 |
|
149 |
|
|
MLR004 |
Malaria |
81 |
0.059 |
|
150 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.059 |
|
151 |
|
P
|
OPT009 |
Optic Neuritis |
57 |
0.059 |
|
152 |
|
|
NRT004 |
Neuritis |
52 |
0.059 |
|
153 |
|
c
|
ATM099 |
Autoimmune Uveitis |
45 |
0.059 |
|
154 |
|
P
|
RRH023 |
Rare Hereditary Hemochromatosis |
41 |
0.059 |
|
155 |
|
P
|
MYP004 |
Myopathy |
70 |
0.059 |
|
156 |
|
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
0.059 |
|
157 |
|
|
PPT005 |
Peptic Ulcer Disease |
59 |
0.059 |
|
158 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.059 |
|
159 |
|
|
GNG003 |
Gingival Recession |
44 |
0.059 |
|
160 |
|
c
|
PLM127 |
Pulmonary Hypertension, Primary, 3 |
34 |
0.059 |
|
161 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
77 |
0.055 |
|
162 |
|
|
SVR004 |
Severe Combined Immunodeficiency |
73 |
0.055 |
|
163 |
|
|
DWN001 |
Down Syndrome |
70 |
0.055 |
|
164 |
|
|
TTN003 |
Tetanus |
65 |
0.055 |
|
165 |
|
|
SPN186 |
Spinal Cord Injury |
60 |
0.055 |
|
166 |
|
P
|
GLM040 |
Glioma Susceptibility 1 |
81 |
0.054 |
|
167 |
|
|
CCC001 |
Coccidioidomycosis |
58 |
0.054 |
|
168 |
|
P
|
GLM007 |
Glomerulonephritis |
57 |
0.054 |
|
169 |
|
|
HMG005 |
Hemoglobinopathy |
56 |
0.054 |
|
170 |
|
|
FRZ001 |
Frozen Shoulder |
53 |
0.054 |
|
171 |
|
c
|
BCT013 |
Bacterial Pneumonia |
48 |
0.054 |
|
172 |
|
|
MCR018 |
Microcytic Anemia |
47 |
0.054 |
|
173 |
|
|
GRN017 |
Granulocytopenia |
44 |
0.054 |
|
174 |
|
c
|
NRF023 |
Neurofibromatosis, Type Ii |
80 |
0.054 |
|
175 |
|
P
|
HYP069 |
Hyperparathyroidism |
63 |
0.054 |
|
176 |
|
|
PLM033 |
Pulmonary Embolism |
59 |
0.054 |
|
177 |
|
|
CHR100 |
Chronic Ulcer of Skin |
55 |
0.054 |
|
178 |
|
P
|
CNR004 |
Cone-Rod Dystrophy 2 |
73 |
0.050 |
|
179 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.050 |
|
180 |
|
|
RCK004 |
Rickets |
68 |
0.050 |
|
181 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
0.050 |
|
182 |
|
P
|
DRM053 |
Dermatitis, Atopic |
66 |
0.050 |
|
183 |
|
P
|
CTR002 |
Cataract |
60 |
0.050 |
|
184 |
|
|
MCS002 |
Mucositis |
56 |
0.050 |
|
185 |
|
P
|
TRM003 |
Tremor |
54 |
0.050 |
|
186 |
|
|
CLL003 |
Cellulitis |
54 |
0.050 |
|
187 |
|
|
URT010 |
Ureteral Obstruction |
45 |
0.050 |
|
188 |
|
|
OVR094 |
Ovarian Epithelial Cancer |
38 |
0.050 |
|
189 |
|
c
|
HMC039 |
Hemochromatosis, Type 1 |
74 |
0.047 |
|
190 |
|
P
|
LPR021 |
Leprosy 3 |
69 |
0.047 |
|
191 |
|
P
|
ADL010 |
Adult Respiratory Distress Syndrome |
65 |
0.047 |
|
192 |
|
P
|
VSC011 |
Vasculitis |
62 |
0.047 |
|
193 |
|
c
|
GRV008 |
Graves Disease 1 |
56 |
0.047 |
|
194 |
|
|
SLC006 |
Silicosis |
56 |
0.047 |
|
195 |
|
|
ATR057 |
Atrioventricular Block |
55 |
0.047 |
|
196 |
|
|
PNG002 |
Pain Agnosia |
51 |
0.047 |
|
197 |
|
|
RTC005 |
Reticulosarcoma |
47 |
0.047 |
|
198 |
|
|
RTC009 |
Reticulum Cell Sarcoma |
43 |
0.047 |
|
199 |
|
|
HYP001 |
Hypochromic Microcytic Anemia |
38 |
0.047 |
|
200 |
|
|
HNS001 |
Hansen's Disease |
34 |
0.047 |
|
201 |
|
c
|
PLM128 |
Pulmonary Hypertension, Primary, 2 |
29 |
0.047 |
|
202 |
|
P
|
MYC084 |
Mycobacterium Tuberculosis 1 |
68 |
0.045 |
|
203 |
|
P
|
THY023 |
Thymoma |
65 |
0.045 |
|
204 |
|
P
|
GLM045 |
Glioma |
63 |
0.045 |
|
205 |
|
|
CRD223 |
Cardiac Arrhythmia |
60 |
0.045 |
|
206 |
|
c
|
THY107 |
Thymoma, Familial |
52 |
0.045 |
|
207 |
|
P
|
RNV001 |
Renovascular Hypertension |
48 |
0.045 |
|
208 |
|
|
GLL048 |
Glial Tumor |
45 |
0.045 |
|
209 |
|
P
|
CLS010 |
Cluster Headache |
42 |
0.045 |
|
210 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
0.038 |
|
211 |
|
|
SQM013 |
Squamous Cell Carcinoma, Head and Neck |
80 |
0.038 |
|
212 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
79 |
0.038 |
|
213 |
|
P
|
APL001 |
Aplastic Anemia |
74 |
0.038 |
|
214 |
|
|
ADN011 |
Adenoid Cystic Carcinoma |
70 |
0.038 |
|
215 |
|
P
|
SKN015 |
Skin Carcinoma |
66 |
0.038 |
|
216 |
|
|
PLG002 |
Plague |
63 |
0.038 |
|
217 |
|
|
BLD131 |
Bladder Urothelial Carcinoma |
62 |
0.038 |
|
218 |
|
|
NPH091 |
Nephrolithiasis, Calcium Oxalate |
60 |
0.038 |
|
219 |
|
P
|
NPH012 |
Nephrotic Syndrome |
60 |
0.038 |
|
220 |
|
|
END081 |
Endosteal Hyperostosis, Autosomal Dominant |
60 |
0.038 |
|
221 |
|
|
INS001 |
Insulinoma |
60 |
0.038 |
|
222 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
0.038 |
|
223 |
|
P
|
URT039 |
Urticaria |
58 |
0.038 |
|
224 |
|
c
|
DWL002 |
Dowling-Degos Disease 1 |
58 |
0.038 |
|
225 |
|
|
LYM027 |
Lymphopenia |
58 |
0.038 |
|
226 |
|
|
THR024 |
Thrombosis |
57 |
0.038 |
|
227 |
|
c
|
LKM060 |
Leukemia, Acute Lymphoblastic 3 |
56 |
0.038 |
|
228 |
|
|
SNS003 |
Sensory Peripheral Neuropathy |
54 |
0.038 |
|
229 |
|
|
PRS045 |
Prostatic Hypertrophy |
53 |
0.038 |
|
230 |
|
|
PRP036 |
Peripheral T-Cell Lymphoma |
53 |
0.038 |
|
231 |
|
|
GSG001 |
Gas Gangrene |
53 |
0.038 |
|
232 |
|
P
|
TRT010 |
Teratoma |
52 |
0.038 |
|
233 |
|
P
|
PLM175 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 |
51 |
0.038 |
|
234 |
|
|
PRS021 |
Prostatic Adenoma |
51 |
0.038 |
|
235 |
|
|
ANK001 |
Ankylosis |
51 |
0.038 |
|
236 |
|
|
GNG012 |
Gingival Overgrowth |
51 |
0.038 |
|
237 |
|
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
51 |
0.038 |
|
238 |
|
|
HYP017 |
Hypophosphatemia |
50 |
0.038 |
|
239 |
|
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
0.038 |
|
240 |
|
P
|
MRC003 |
Mercury Poisoning |
48 |
0.038 |
|
241 |
|
P
|
CHR345 |
Chronic Pain |
44 |
0.038 |
|
242 |
|
P
|
AVS003 |
Avascular Necrosis |
42 |
0.038 |
|
243 |
|
|
RDN001 |
Reading Disorder |
40 |
0.038 |
|
244 |
|
|
OST115 |
Osteonecrosis of the Jaw |
40 |
0.038 |
|
245 |
|
|
KLD004 |
Keloid Disorder |
40 |
0.038 |
|