# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
HST006 |
Histidinemia |
48 |
5.190 |
|
2 |
|
|
URC002 |
Urea Cycle Disorder |
51 |
2.807 |
|
3 |
|
|
DSR084 |
Disorder of Urea Cycle Metabolism and Ammonia Detoxification |
3 |
2.644 |
|
4 |
|
|
ANP008 |
Anaplastic Oligoastrocytoma |
30 |
0.778 |
|
5 |
|
|
HPT004 |
Hepatic Coma |
45 |
0.641 |
|
6 |
|
|
HPT019 |
Hepatic Encephalopathy |
60 |
0.603 |
|
7 |
|
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
57 |
0.567 |
|
8 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.518 |
|
9 |
|
|
OCL069 |
Ocular Motor Apraxia |
51 |
0.369 |
|
10 |
|
|
LVR012 |
Liver Cirrhosis |
62 |
0.352 |
|
11 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.319 |
|
12 |
|
c
|
ACT134 |
Acute Liver Failure |
56 |
0.298 |
|
13 |
|
|
MTB004 |
Metabolic Acidosis |
50 |
0.286 |
|
14 |
|
|
BRN004 |
Brain Edema |
56 |
0.270 |
|
15 |
|
|
MTH071 |
Methane Production |
26 |
0.249 |
|
16 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.237 |
|
17 |
|
|
PHN003 |
Phenylketonuria |
75 |
0.200 |
|
18 |
|
|
PPL052 |
Papillomatosis, Confluent and Reticulated |
33 |
0.200 |
|
19 |
|
|
HLC007 |
Helicobacter Pylori Infection |
59 |
0.179 |
|
20 |
|
P
|
GST044 |
Gastritis |
56 |
0.155 |
|
21 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
34 |
0.155 |
|
22 |
|
|
PRT013 |
Portal Hypertension |
59 |
0.152 |
|
23 |
|
|
HYP005 |
Hypokalemia |
55 |
0.148 |
|
24 |
|
P
|
HYP724 |
Hyperlipoproteinemia, Type Iii |
73 |
0.141 |
|
25 |
|
|
CTR172 |
Citrullinemia, Classic |
64 |
0.141 |
|
26 |
|
|
LPP008 |
Lipoprotein Quantitative Trait Locus |
62 |
0.141 |
|
27 |
|
|
ARG002 |
Argininosuccinic Aciduria |
61 |
0.138 |
|
28 |
|
|
48X005 |
48,xyyy |
39 |
0.130 |
|
29 |
|
|
VRC005 |
Varicose Veins |
60 |
0.127 |
|
30 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.127 |
|
31 |
|
|
INT075 |
Intracranial Hypertension |
53 |
0.127 |
|
32 |
|
P
|
HRT032 |
Heart Disease |
75 |
0.123 |
|
33 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.123 |
|
34 |
|
|
DRM006 |
Dermatitis |
61 |
0.123 |
|
35 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.123 |
|
36 |
|
|
ART140 |
Arteries, Anomalies of |
52 |
0.123 |
|
37 |
|
|
ANX004 |
Anoxia |
40 |
0.123 |
|
38 |
|
|
HRW001 |
Hair Whorl |
36 |
0.118 |
|
39 |
|
|
CNG034 |
Congestive Heart Failure |
69 |
0.114 |
|
40 |
|
|
ORN008 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to |
59 |
0.114 |
|
41 |
|
|
ESP002 |
Esophageal Varix |
51 |
0.114 |
|
42 |
|
|
BRN024 |
Bronchitis |
68 |
0.110 |
|
43 |
|
P
|
RHN004 |
Rhinitis |
57 |
0.110 |
|
44 |
|
|
ARG007 |
Argininemia |
57 |
0.110 |
|
45 |
|
|
HYP266 |
Hypoxia |
57 |
0.110 |
|
46 |
|
|
ISC004 |
Ischemia |
58 |
0.105 |
|
47 |
|
|
HYP774 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
55 |
0.105 |
|
48 |
|
|
DNT012 |
Dental Caries |
53 |
0.105 |
|
49 |
|
|
CRB186 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to |
52 |
0.105 |
|
50 |
|
|
RYS001 |
Reye Syndrome |
51 |
0.105 |
|
51 |
|
|
URM002 |
Uremia |
49 |
0.105 |
|
52 |
|
|
NCT003 |
N-Acetylglutamate Synthase Deficiency |
45 |
0.105 |
|
53 |
|
P
|
BRN022 |
Bronchiectasis |
59 |
0.100 |
|
54 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.095 |
|
55 |
|
P
|
CRD119 |
Cardiac Arrest |
67 |
0.095 |
|
56 |
|
|
PPT005 |
Peptic Ulcer Disease |
59 |
0.095 |
|
57 |
|
P
|
RNL007 |
Renal Tubular Acidosis |
51 |
0.095 |
|
58 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.095 |
|
59 |
|
c
|
INH020 |
Inherited Metabolic Disorder |
47 |
0.095 |
|
60 |
|
P
|
CRN300 |
Coronary Heart Disease 1 |
63 |
0.089 |
|
61 |
|
|
LNG099 |
Lung Disease |
60 |
0.089 |
|
62 |
|
|
SCH014 |
Schistosomiasis |
57 |
0.089 |
|
63 |
|
P
|
TRM003 |
Tremor |
54 |
0.089 |
|
64 |
|
|
SCH060 |
Schistosoma Mansoni Infection, Susceptibility/ |
39 |
0.089 |
|
65 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
0.084 |
|
66 |
|
c
|
CHR684 |
Chronic Kidney Disease |
70 |
0.084 |
|
67 |
|
|
GST023 |
Gastric Ulcer |
53 |
0.084 |
|
68 |
|
P
|
HYP061 |
Hypertrophic Cardiomyopathy |
70 |
0.077 |
|
69 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.077 |
|
70 |
|
|
PRP001 |
Propionic Acidemia |
65 |
0.077 |
|
71 |
|
P
|
GLM045 |
Glioma |
63 |
0.077 |
|
72 |
|
|
FTT001 |
Fatty Liver Disease |
61 |
0.077 |
|
73 |
|
|
PLM010 |
Pulmonary Edema |
54 |
0.077 |
|
74 |
|
|
CRN030 |
Coronary Stenosis |
50 |
0.077 |
|
75 |
|
P
|
MTH008 |
Methylmalonic Acidemia |
50 |
0.077 |
|
76 |
|
|
GLL048 |
Glial Tumor |
45 |
0.077 |
|
77 |
|
|
PRP027 |
Peripheral Vascular Disease |
71 |
0.071 |
|
78 |
|
P
|
LKM062 |
Leukemia, Acute Lymphoblastic |
69 |
0.071 |
|
79 |
|
P
|
LKM002 |
Leukemia |
68 |
0.071 |
|
80 |
|
|
ANG054 |
Angina Pectoris |
66 |
0.071 |
|
81 |
|
|
BRN002 |
Bronchiolitis |
59 |
0.071 |
|
82 |
|
|
INT324 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
58 |
0.071 |
|
83 |
|
P
|
EXN002 |
Exanthem |
57 |
0.071 |
|
|
85 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.071 |
|
86 |
|
|
ORG002 |
Organic Acidemia |
44 |
0.071 |
|
87 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.071 |
|
88 |
|
|
ATR003 |
Atrophic Rhinitis |
35 |
0.071 |
|
89 |
|
|
ISL099 |
Isolated Methylmalonic Acidemia |
29 |
0.071 |
|
90 |
|
|
URT049 |
Urate Oxidase, Pseudogene |
25 |
0.071 |
|
91 |
|
|
CYS001 |
Cystic Fibrosis |
81 |
0.063 |
|
92 |
|
|
PLM129 |
Pulmonary Disease, Chronic Obstructive |
73 |
0.063 |
|
93 |
|
P
|
ATS364 |
Autism |
70 |
0.063 |
|
94 |
|
|
ATH013 |
Atherosclerosis Susceptibility |
65 |
0.063 |
|
95 |
|
P
|
VSC007 |
Vascular Disease |
63 |
0.063 |
|
96 |
|
|
DPR016 |
Depression |
63 |
0.063 |
|
97 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.063 |
|
98 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.063 |
|
99 |
|
P
|
CRD246 |
Cardiovascular System Disease |
57 |
0.063 |
|
100 |
|
|
BLR008 |
Bilirubin Metabolic Disorder |
57 |
0.063 |
|
101 |
|
P
|
CTR177 |
Citrullinemia, Type Ii, Adult-Onset |
57 |
0.063 |
|
102 |
|
P
|
BPL003 |
Bipolar Disorder |
56 |
0.063 |
|
103 |
|
|
BRN012 |
Bronchiolitis Obliterans |
55 |
0.063 |
|
104 |
|
P
|
PLM034 |
Pulmonary Emphysema |
55 |
0.063 |
|
105 |
|
|
HYP060 |
Hyperinsulinism |
54 |
0.063 |
|
106 |
|
P
|
ART021 |
Arteriosclerosis |
54 |
0.063 |
|
107 |
|
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
50 |
0.063 |
|
108 |
|
|
47X002 |
47,xyy |
49 |
0.063 |
|
109 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.063 |
|
110 |
|
|
SBC016 |
Subacute Delirium |
44 |
0.063 |
|
111 |
|
c
|
MJR024 |
Major Affective Disorder 9 |
41 |
0.063 |
|
112 |
|
|
HYP141 |
Hyperphenylalaninemia |
39 |
0.063 |
|
113 |
|
c
|
MJR022 |
Major Affective Disorder 8 |
38 |
0.063 |
|
114 |
|
|
HTT002 |
Hutterite Cerebroosteonephrodysplasia Syndrome |
26 |
0.063 |
|
115 |
|
c
|
ATM006 |
Autoimmune Lymphoproliferative Syndrome |
74 |
0.055 |
|
116 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
0.055 |
|
117 |
|
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
69 |
0.055 |
|
118 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.055 |
|
119 |
|
|
GT001 |
Gout |
64 |
0.055 |
|
120 |
|
|
GST106 |
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets |
64 |
0.055 |
|
121 |
|
|
LPD008 |
Lipid Metabolism Disorder |
62 |
0.055 |
|
122 |
|
c
|
GLY004 |
Glycogen Storage Disease V |
62 |
0.055 |
|
123 |
|
c
|
SVR001 |
Severe Acute Respiratory Syndrome |
62 |
0.055 |
|
124 |
|
|
NTR005 |
Nutritional Deficiency Disease |
62 |
0.055 |
|
125 |
|
|
CHL068 |
Cholestasis |
61 |
0.055 |
|
126 |
|
P
|
ANP001 |
Anaplastic Large Cell Lymphoma |
58 |
0.055 |
|
127 |
|
P
|
BCL017 |
B-Cell Lymphoma |
58 |
0.055 |
|
128 |
|
|
LYM027 |
Lymphopenia |
58 |
0.055 |
|
129 |
|
|
GYR004 |
Gyrate Atrophy of Choroid and Retina |
57 |
0.055 |
|
130 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
57 |
0.055 |
|
131 |
|
|
NPH009 |
Nephrolithiasis |
55 |
0.055 |
|
132 |
|
P
|
DDN001 |
Duodenal Ulcer |
52 |
0.055 |
|
133 |
|
|
TLN003 |
Telangiectasis |
52 |
0.055 |
|
134 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.055 |
|
135 |
|
|
NWC001 |
Newcastle Disease |
45 |
0.055 |
|
136 |
|
P
|
DST107 |
Distal Renal Tubular Acidosis |
42 |
0.055 |
|
137 |
|
|
CHL045 |
Choline Deficiency Disease |
39 |
0.055 |
|
138 |
|
|
FNT004 |
Fainting |
30 |
0.055 |
|
139 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
29 |
0.055 |
|
140 |
|
|
BNG077 |
Benign Idiopathic Neonatal Seizures |
26 |
0.055 |
|
141 |
|
c
|
EPL249 |
Epileptic Encephalopathy, Early Infantile, 82 |
23 |
0.055 |
|
142 |
|
|
GLB026 |
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine |
19 |
0.055 |
|
143 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.045 |
|
144 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.045 |
|
145 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.045 |
|
146 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.045 |
|
147 |
|
c
|
ATR087 |
Atrial Standstill 1 |
75 |
0.045 |
|
148 |
|
|
PLM001 |
Pulmonary Tuberculosis |
69 |
0.045 |
|
149 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
67 |
0.045 |
|
150 |
|
c
|
MCL013 |
Mucolipidosis Iv |
66 |
0.045 |
|
151 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
65 |
0.045 |
|
152 |
|
|
TTN003 |
Tetanus |
65 |
0.045 |
|
153 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
0.045 |
|
154 |
|
P
|
ART005 |
Arteriovenous Malformation |
65 |
0.045 |
|
155 |
|
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
65 |
0.045 |
|
156 |
|
|
PRT036 |
Peritonitis |
64 |
0.045 |
|
157 |
|
P
|
ABD014 |
Abdominal Obesity-Metabolic Syndrome 1 |
64 |
0.045 |
|
158 |
|
P
|
PRD008 |
Periodontitis |
64 |
0.045 |
|
159 |
|
P
|
HML002 |
Hemolytic Anemia |
63 |
0.045 |
|
160 |
|
c
|
PRC016 |
Pre-Eclampsia |
63 |
0.045 |
|
161 |
|
P
|
HRD008 |
Hereditary Hemorrhagic Telangiectasia |
63 |
0.045 |
|
162 |
|
c
|
HPT003 |
Hepatitis a |
62 |
0.045 |
|
163 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
61 |
0.045 |
|
164 |
|
|
YLL002 |
Yellow Fever |
61 |
0.045 |
|
165 |
|
|
ALC006 |
Alcoholic Hepatitis |
61 |
0.045 |
|
166 |
|
|
NPH091 |
Nephrolithiasis, Calcium Oxalate |
60 |
0.045 |
|
167 |
|
P
|
NPH012 |
Nephrotic Syndrome |
60 |
0.045 |
|
168 |
|
P
|
FTT008 |
Fatty Liver Disease, Nonalcoholic 1 |
60 |
0.045 |
|
169 |
|
P
|
CTR002 |
Cataract |
60 |
0.045 |
|
170 |
|
c
|
ACT071 |
Acute Kidney Failure |
60 |
0.045 |
|
171 |
|
|
CHL014 |
Cholera |
59 |
0.045 |
|
172 |
|
c
|
ACT073 |
Acute Leukemia |
58 |
0.045 |
|
173 |
|
|
THR024 |
Thrombosis |
57 |
0.045 |
|
174 |
|
|
CMM005 |
Common Cold |
57 |
0.045 |
|
175 |
|
|
LYS003 |
Lysinuric Protein Intolerance |
57 |
0.045 |
|
176 |
|
P
|
PYL005 |
Pyelonephritis |
56 |
0.045 |
|
177 |
|
|
ORT008 |
Orotic Aciduria |
55 |
0.045 |
|
178 |
|
|
AMN003 |
Amnestic Disorder |
54 |
0.045 |
|
179 |
|
|
NNL006 |
Non-Alcoholic Steatohepatitis |
54 |
0.045 |
|
180 |
|
|
HRT012 |
Heart Valve Disease |
53 |
0.045 |
|
181 |
|
c
|
VRL010 |
Viral Hepatitis |
52 |
0.045 |
|
182 |
|
c
|
HYP807 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
52 |
0.045 |
|
183 |
|
P
|
MSC003 |
Muscular Atrophy |
52 |
0.045 |
|
184 |
|
P
|
AST007 |
Astrocytoma |
51 |
0.045 |
|
185 |
|
|
CRN041 |
Carnitine-Acylcarnitine Translocase Deficiency |
51 |
0.045 |
|
186 |
|
|
PLR008 |
Pleurisy |
50 |
0.045 |
|
187 |
|
P
|
ECL001 |
Eclampsia |
50 |
0.045 |
|
188 |
|
|
HPT014 |
Hepatorenal Syndrome |
50 |
0.045 |
|
189 |
|
P
|
OBS001 |
Obstructive Jaundice |
50 |
0.045 |
|
190 |
|
|
INT067 |
Interstitial Nephritis |
48 |
0.045 |
|
191 |
|
|
KWS001 |
Kwashiorkor |
44 |
0.045 |
|
192 |
|
|
CRB090 |
Cerebral Hypoxia |
44 |
0.045 |
|
193 |
|
|
PYR037 |
Pyruvate Carboxylase Deficiency |
43 |
0.045 |
|
194 |
|
|
MYP071 |
Myopathy Due to Myoadenylate Deaminase Deficiency |
43 |
0.045 |
|
195 |
|
P
|
CRN026 |
Corneal Edema |
43 |
0.045 |
|
196 |
|
c
|
MTC088 |
Mitochondrial Dna Depletion Syndrome 13 |
42 |
0.045 |
|
197 |
|
|
MCK029 |
Meckel Diverticulum |
38 |
0.045 |
|
198 |
|
|
BTN004 |
Biotin Deficiency |
38 |
0.045 |
|
199 |
|
|
TRC020 |
Tracheitis |
36 |
0.045 |
|
200 |
|
|
LCH001 |
Leech Infestation |
35 |
0.045 |
|
201 |
|
c
|
PK3005 |
Pik3ca-Related Overgrowth Syndrome |
34 |
0.045 |
|
202 |
|
|
TXC007 |
Toxic Pneumonitis |
29 |
0.045 |
|
203 |
|
|
CHR603 |
Chronic Enteropathy Associated with Slco2a1 Gene |
25 |
0.045 |
|
204 |
|
c
|
CTR110 |
Cataract 26, Multiple Types |
23 |
0.045 |
|
205 |
|
|
HVY002 |
Heavy Metal Poisoning |
22 |
0.045 |
|
206 |
|
|
CRB155 |
Carbonic Anhydrase Va Deficiency |
20 |
0.045 |
|
207 |
|
|
PST037 |
Pasteurella Multocida Infection |
14 |
0.045 |
|
208 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.032 |
|
209 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.032 |
|
210 |
|
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
89 |
0.032 |
|
211 |
|
c
|
HYP595 |
Hypertension, Essential |
84 |
0.032 |
|
212 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.032 |
|
213 |
|
|
MLR004 |
Malaria |
81 |
0.032 |
|
214 |
|
|
STR067 |
Stroke, Ischemic |
81 |
0.032 |
|
215 |
|
P
|
RHM011 |
Rheumatoid Arthritis |
80 |
0.032 |
|
216 |
|
c
|
DLT002 |
Dilated Cardiomyopathy |
79 |
0.032 |
|
217 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
0.032 |
|
218 |
|
|
INS024 |
Insulin-Like Growth Factor I |
79 |
0.032 |
|
219 |
|
|
RNL114 |
Renal Cell Carcinoma, Nonpapillary |
78 |
0.032 |
|
220 |
|
|
CRV035 |
Cervical Cancer |
76 |
0.032 |
|
221 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.032 |
|
222 |
|
P
|
APL001 |
Aplastic Anemia |
74 |
0.032 |
|
223 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.032 |
|
224 |
|
P
|
OST002 |
Osteoporosis |
74 |
0.032 |
|
225 |
|
c
|
HYP836 |
Hypercholesterolemia, Familial, 1 |
73 |
0.032 |
|
226 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.032 |
|
227 |
|
P
|
MLT020 |
Multiple Sclerosis |
72 |
0.032 |
|
228 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.032 |
|
229 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.032 |
|
230 |
|
|
OTT002 |
Otitis Media |
72 |
0.032 |
|
231 |
|
P
|
SRC025 |
Sarcoidosis 1 |
70 |
0.032 |
|
232 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.032 |
|
233 |
|
P
|
MYP004 |
Myopathy |
70 |
0.032 |
|
234 |
|
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
69 |
0.032 |
|
235 |
|
|
CRB037 |
Cerebral Palsy |
69 |
0.032 |
|
236 |
|
c
|
PRG042 |
Progressive Familial Heart Block, Type Ia |
69 |
0.032 |
|
237 |
|
|
RCK004 |
Rickets |
68 |
0.032 |
|
238 |
|
P
|
MJR001 |
Major Depressive Disorder |
68 |
0.032 |
|
239 |
|
P
|
3MT016 |
3-Methylglutaconic Aciduria, Type Iii |
67 |
0.032 |
|
240 |
|
P
|
HPT021 |
Hepatitis |
67 |
0.032 |
|
241 |
|
c
|
VNT034 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
67 |
0.032 |
|
242 |
|
|
ALL003 |
Allergic Rhinitis |
67 |
0.032 |
|
243 |
|
c
|
ATS007 |
Autism Spectrum Disorder |
67 |
0.032 |
|
244 |
|
P
|
PLM037 |
Pulmonary Hypertension |
67 |
0.032 |
|
245 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
0.032 |
|
246 |
|
c
|
TYR012 |
Tyrosinemia, Type I |
66 |
0.032 |
|
247 |
|
|
ALC007 |
Alcohol Dependence |
66 |
0.032 |
|
248 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.032 |
|
249 |
|
P
|
DMN002 |
Dementia |
66 |
0.032 |
|
250 |
|
|
CHG001 |
Chagas Disease |
66 |
0.032 |
|
251 |
|
P
|
DRM053 |
Dermatitis, Atopic |
66 |
0.032 |
|
252 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.032 |
|
253 |
|
|
KHL003 |
Kohlschutter-Tonz Syndrome |
65 |
0.032 |
|
254 |
|
P
|
CNJ013 |
Conjunctivitis |
65 |
0.032 |
|
255 |
|
|
SRC014 |
Sarcoma |
65 |
0.032 |
|
256 |
|
P
|
MTR014 |
Motor Neuron Disease |
65 |
0.032 |
|
257 |
|
|
LKN025 |
Leukoencephalopathy, Hereditary Diffuse, with Spheroids |
65 |
0.032 |
|
258 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.032 |
|
259 |
|
P
|
ADL010 |
Adult Respiratory Distress Syndrome |
65 |
0.032 |
|
260 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
0.032 |
|
261 |
|
c
|
ATS347 |
Autosomal Dominant Polycystic Kidney Disease |
65 |
0.032 |
|
262 |
|
P
|
DBT009 |
Diabetes Mellitus |
64 |
0.032 |
|
263 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.032 |
|
264 |
|
|
TBC004 |
Tobacco Addiction |
64 |
0.032 |
|
265 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.032 |
|
266 |
|
P
|
NTR004 |
Neutropenia |
63 |
0.032 |
|
267 |
|
P
|
BLD124 |
Bleeding Disorder, Platelet-Type, 11 |
63 |
0.032 |
|
268 |
|
|
TYP007 |
Typhoid Fever |
63 |
0.032 |
|
269 |
|
c
|
ACT068 |
Acute Cystitis |
63 |
0.032 |
|
270 |
|
c
|
ATM011 |
Autoimmune Hepatitis |
63 |
0.032 |
|
271 |
|
c
|
OPT053 |
Optic Atrophy 1 |
63 |
0.032 |
|
272 |
|
P
|
PLY014 |
Polycystic Kidney Disease |
62 |
0.032 |
|
273 |
|
|
3HY005 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
62 |
0.032 |
|
274 |
|
P
|
ESP024 |
Esophagitis |
62 |
0.032 |
|
275 |
|
P
|
PRM006 |
Primary Biliary Cirrhosis |
62 |
0.032 |
|
276 |
|
|
APP008 |
Appendicitis |
61 |
0.032 |
|
277 |
|
|
PYR022 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
60 |
0.032 |
|
278 |
|
|
INT066 |
Interstitial Lung Disease |
60 |
0.032 |
|
279 |
|
c
|
ACT027 |
Acute Pancreatitis |
60 |
0.032 |
|
280 |
|
P
|
GLY013 |
Glycogen Storage Disease |
60 |
0.032 |
|
281 |
|
|
STT001 |
Status Epilepticus |
60 |
0.032 |
|
282 |
|
|
IGR001 |
Ige Responsiveness, Atopic |
59 |
0.032 |
|
283 |
|
|
CHL123 |
Chlamydia |
59 |
0.032 |
|
284 |
|
P
|
BRS044 |
Breast Adenocarcinoma |
59 |
0.032 |
|
285 |
|
|
AVN001 |
Avian Influenza |
59 |
0.032 |
|
286 |
|
P
|
DNG005 |
Dengue Virus |
59 |
0.032 |
|
287 |
|
P
|
NPH005 |
Nephronophthisis |
59 |
0.032 |
|
288 |
|
|
GST045 |
Gastroenteritis |
59 |
0.032 |
|
289 |
|
P
|
TYR004 |
Tyrosinemia |
58 |
0.032 |
|
290 |
|
|
ANT024 |
Anthrax Disease |
58 |
0.032 |
|
291 |
|
|
CNT047 |
Contact Dermatitis |
58 |
0.032 |
|
292 |
|
P
|
URT039 |
Urticaria |
58 |
0.032 |
|
293 |
|
P
|
MTR012 |
Mitral Valve Disease |
58 |
0.032 |
|
294 |
|
|
MNT002 |
Mental Depression |
58 |
0.032 |
|
295 |
|
|
CNS004 |
Constipation |
58 |
0.032 |
|
296 |
|
|
ACY009 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of |
58 |
0.032 |
|
297 |
|
P
|
INF032 |
Infertility |
57 |
0.032 |
|
298 |
|
P
|
UVT001 |
Uveitis |
57 |
0.032 |
|
299 |
|
P
|
GLM007 |
Glomerulonephritis |
57 |
0.032 |
|
300 |
|
P
|
HDC001 |
Headache |
57 |
0.032 |
|
301 |
|
c
|
ACT075 |
Acute Myocardial Infarction |
57 |
0.032 |
|
302 |
|
|
CHR177 |
Chromophobe Renal Cell Carcinoma |
57 |
0.032 |
|
303 |
|
|
VSC002 |
Vascular Dementia |
57 |
0.032 |
|
304 |
|
|
PLC005 |
Placental Insufficiency |
57 |
0.032 |
|
305 |
|
|
PHR003 |
Pharyngitis |
57 |
0.032 |
|
306 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
0.032 |
|
307 |
|
|
OPT066 |
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy |
56 |
0.032 |
|
308 |
|
|
BCT022 |
Bacterial Infectious Disease |
56 |
0.032 |
|
309 |
|
|
GST050 |
Gastrointestinal System Disease |
56 |
0.032 |
|
310 |
|
|
PRN038 |
Prune Belly Syndrome |
56 |
0.032 |
|
311 |
|
P
|
HYP024 |
Hypoparathyroidism |
56 |
0.032 |
|
312 |
|
|
MCS002 |
Mucositis |
56 |
0.032 |
|
313 |
|
|
SLC006 |
Silicosis |
56 |
0.032 |
|
314 |
|
|
HPT022 |
Hepatoblastoma |
56 |
0.032 |
|
315 |
|
|
ENC067 |
Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis |
55 |
0.032 |
|
316 |
|
c
|
PRG043 |
Progressive Familial Heart Block, Type Ib |
54 |
0.032 |
|
317 |
|
|
GLC003 |
Glucose Intolerance |
54 |
0.032 |
|
318 |
|
|
FCL014 |
Focal Epilepsy |
54 |
0.032 |
|
319 |
|
P
|
CYS039 |
Cystic Kidney Disease |
54 |
0.032 |
|
320 |
|
|
PRT038 |
Protein-Energy Malnutrition |
54 |
0.032 |
|
321 |
|
|
BRN014 |
Bronchopneumonia |
54 |
0.032 |
|
322 |
|
|
PRC013 |
Pericarditis |
54 |
0.032 |
|
323 |
|
P
|
LTR001 |
Lateral Sclerosis |
54 |
0.032 |
|
324 |
|
|
PPL022 |
Papilloma |
54 |
0.032 |
|
325 |
|
|
HYP276 |
Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant |
54 |
0.032 |
|
326 |
|
|
PNC001 |
Pancytopenia |
54 |
0.032 |
|
327 |
|
|
PRS045 |
Prostatic Hypertrophy |
53 |
0.032 |
|
328 |
|
|
CLR030 |
Clear Cell Renal Cell Carcinoma |
53 |
0.032 |
|
329 |
|
P
|
TCD001 |
Tic Disorder |
53 |
0.032 |
|
330 |
|
|
KRT006 |
Keratoconjunctivitis |
53 |
0.032 |
|
331 |
|
|
BCT002 |
Bacterial Vaginosis |
53 |
0.032 |
|
332 |
|
P
|
RNL017 |
Renal Oncocytoma |
53 |
0.032 |
|
333 |
|
|
ACY005 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of |
53 |
0.032 |
|
334 |
|
|
MST005 |
Mastitis |
53 |
0.032 |
|
335 |
|
|
HYP063 |
Hypersplenism |
53 |
0.032 |
|
336 |
|
|
HMC014 |
Homocysteinemia |
53 |
0.032 |
|
337 |
|
|
SPN035 |
Spindle Cell Sarcoma |
53 |
0.032 |
|
338 |
|
c
|
HPT007 |
Hepatitis E |
53 |
0.032 |
|
339 |
|
c
|
FML008 |
Familial Retinoblastoma |
53 |
0.032 |
|
340 |
|
|
ALC009 |
Alcoholic Liver Cirrhosis |
53 |
0.032 |
|
341 |
|
c
|
HYP326 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
53 |
0.032 |
|
342 |
|
|
PRP016 |
Paraplegia |
52 |
0.032 |
|
343 |
|
|
PPT001 |
Peptic Esophagitis |
52 |
0.032 |
|
344 |
|
P
|
TRT010 |
Teratoma |
52 |
0.032 |
|
345 |
|
|
NPH003 |
Nephrocalcinosis |
51 |
0.032 |
|
346 |
|
P
|
PLM175 |
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 |
51 |
0.032 |
|
347 |
|
|
PRS021 |
Prostatic Adenoma |
51 |
0.032 |
|
348 |
|
|
KRT009 |
Keratosis |
51 |
0.032 |
|
349 |
|
|
ILS001 |
Ileus |
51 |
0.032 |
|
350 |
|
P
|
LCT001 |
Lactic Acidosis |
51 |
0.032 |
|
351 |
|
|
CCC002 |
Coccidiosis |
51 |
0.032 |
|
352 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.032 |
|
353 |
|
|
SCH012 |
Schizoaffective Disorder |
50 |
0.032 |
|
354 |
|
|
PLR007 |
Pleural Empyema |
50 |
0.032 |
|
355 |
|
c
|
HYP271 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
50 |
0.032 |
|
356 |
|
|
CRT013 |
Carotid Stenosis |
50 |
0.032 |
|
357 |
|
|
ASC010 |
Ascaris Lumbricoides Infection |
50 |
0.032 |
|
358 |
|
|
PRT018 |
Portal Vein Thrombosis |
50 |
0.032 |
|
359 |
|
|
BLR001 |
Biliary Atresia |
50 |
0.032 |
|
360 |
|
P
|
ATR005 |
Atrophic Gastritis |
50 |
0.032 |
|
361 |
|
|
ONC007 |
Oncocytoma |
49 |
0.032 |
|
362 |
|
|
ENT004 |
Enthesopathy |
49 |
0.032 |
|
363 |
|
|
VLV047 |
Volvulus of Midgut |
49 |
0.032 |
|
364 |
|
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
0.032 |
|
365 |
|
|
BRN071 |
Brain Injury |
49 |
0.032 |
|
366 |
|
|
BCT004 |
Bacteriuria |
49 |
0.032 |
|
367 |
|
|
INT017 |
Intestinal Schistosomiasis |
48 |
0.032 |
|
368 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.032 |
|
369 |
|
|
RGH001 |
Right Bundle Branch Block |
48 |
0.032 |
|
370 |
|
P
|
BNM029 |
Bone Mineral Density Quantitative Trait Locus 15 |
48 |
0.032 |
|
371 |
|
|
SPL018 |
Splenomegaly |
48 |
0.032 |
|
372 |
|
P
|
MRC003 |
Mercury Poisoning |
48 |
0.032 |
|
373 |
|
P
|
CRN028 |
Corneal Ulcer |
47 |
0.032 |
|
374 |
|
|
AST006 |
Astigmatism |
47 |
0.032 |
|
375 |
|
|
KRT002 |
Keratomalacia |
47 |
0.032 |
|
376 |
|
|
STM006 |
Stomach Disease |
47 |
0.032 |
|
377 |
|
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
47 |
0.032 |
|
378 |
|
|
CRD137 |
Cardiogenic Shock |
47 |
0.032 |
|
379 |
|
|
LYM019 |
Lymphosarcoma |
46 |
0.032 |
|
380 |
|
|
RTN023 |
Retinitis |
46 |
0.032 |
|
381 |
|
|
MNN028 |
Mononeuropathy of the Median Nerve, Mild |
46 |
0.032 |
|
382 |
|
|
MNN020 |
Meningococcal Infection |
46 |
0.032 |
|
383 |
|
P
|
MYC033 |
Myoclonus |
46 |
0.032 |
|
384 |
|
|
SQM002 |
Squamous Cell Papilloma |
46 |
0.032 |
|
385 |
|
|
ANR004 |
Anuria |
46 |
0.032 |
|
386 |
|
|
CNT025 |
Central Pontine Myelinolysis |
46 |
0.032 |
|
387 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.032 |
|
388 |
|
|
IMM136 |
Immune System Disease |
45 |
0.032 |
|
389 |
|
|
PRL008 |
Paralytic Ileus |
45 |
0.032 |
|
390 |
|
|
DBT090 |
Diabetes and Deafness, Maternally Inherited |
44 |
0.032 |
|
391 |
|
|
CRD003 |
Cardiac Sarcoidosis |
44 |
0.032 |
|
392 |
|
P
|
SMK004 |
Smoking As a Quantitative Trait Locus 3 |
44 |
0.032 |
|
393 |
|
|
IRT001 |
Iritis |
44 |
0.032 |
|
394 |
|
|
DWR001 |
Dwarfism |
44 |
0.032 |
|
395 |
|
|
CRB008 |
Cerebral Atherosclerosis |
44 |
0.032 |
|
396 |
|
|
CVD001 |
Covid-19 |
44 |
0.032 |
|
397 |
|
|
OVR093 |
Overhydrated Hereditary Stomatocytosis |
43 |
0.032 |
|
398 |
|
|
ENC005 |
Encephalomalacia |
43 |
0.032 |
|
399 |
|
|
MYC013 |
Mycobacterium Abscessus |
43 |
0.032 |
|
400 |
|
|
MDD018 |
Middle East Respiratory Syndrome |
43 |
0.032 |
|
401 |
|
|
MST004 |
Mast Cell Neoplasm |
42 |
0.032 |
|
402 |
|
P
|
CTR077 |
Citrullinemia, Type Ii, Neonatal-Onset |
42 |
0.032 |
|
403 |
|
c
|
RTN058 |
Retinitis Pigmentosa 3 |
42 |
0.032 |
|
404 |
|
|
MRS001 |
Marasmus |
42 |
0.032 |
|
405 |
|
c
|
BNM022 |
Bone Mineral Density Quantitative Trait Locus 8 |
42 |
0.032 |
|
406 |
|
|
SNL007 |
Senile Cataract |
42 |
0.032 |
|
407 |
|
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
42 |
0.032 |
|
408 |
|
|
CRB033 |
Cerebral Degeneration |
42 |
0.032 |
|
409 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.032 |
|
410 |
|
P
|
HYP769 |
Hyperlysinemia, Type I |
41 |
0.032 |
|
411 |
|
|
RST023 |
Resting Heart Rate, Variation in |
41 |
0.032 |
|
412 |
|
|
LTX001 |
Latex Allergy |
41 |
0.032 |
|
413 |
|
|
PCD001 |
Pica Disease |
41 |
0.032 |
|
414 |
|
P
|
RRT020 |
Rare Tumor |
41 |
0.032 |
|
415 |
|
|
DHY010 |
Dihydrolipoamide Dehydrogenase Deficiency |
40 |
0.032 |
|
416 |
|
|
CNS002 |
Constrictive Pericarditis |
40 |
0.032 |
|
417 |
|
|
GLC008 |
Glucose Metabolism Disease |
40 |
0.032 |
|
418 |
|
|
LTH002 |
Lathosterolosis |
40 |
0.032 |
|
419 |
|
|
KLL014 |
Kelley-Seegmiller Syndrome |
39 |
0.032 |
|
420 |
|
|
AMN002 |
Amino Acid Metabolic Disorder |
39 |
0.032 |
|
421 |
|
|
SCR015 |
Scarlet Fever |
39 |
0.032 |
|
422 |
|
c
|
ACT004 |
Acute Diarrhea |
39 |
0.032 |
|
423 |
|
P
|
FML340 |
Familial Episodic Pain Syndrome |
39 |
0.032 |
|
|
425 |
|
|
ACY011 |
Acyl-Coa Dehydrogenase Deficiency |
38 |
0.032 |
|
426 |
|
|
3MT011 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
37 |
0.032 |
|
427 |
|
|
UPP004 |
Upper Respiratory Tract Disease |
37 |
0.032 |
|
428 |
|
|
ASP024 |
Asparagine Synthetase Deficiency |
37 |
0.032 |
|
429 |
|
c
|
RNL046 |
Renal Tubular Acidosis, Distal, Autosomal Dominant |
37 |
0.032 |
|
430 |
|
|
SCR003 |
Secretory Diarrhea |
37 |
0.032 |
|
431 |
|
|
HYD007 |
Hydrophthalmos |
36 |
0.032 |
|
432 |
|
|
PRN029 |
Parainfluenza Virus Type 3 |
36 |
0.032 |
|
433 |
|
|
CMB014 |
Combined Oxidative Phosphorylation Deficiency 3 |
36 |
0.032 |
|
434 |
|
|
MTC151 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
35 |
0.032 |
|
435 |
|
|
MTC141 |
Mitochondrial Complex V Deficiency, Nuclear Type 5 |
35 |
0.032 |
|
436 |
|
c
|
ECT041 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
35 |
0.032 |
|
437 |
|
|
ASC001 |
Ascaridiasis |
35 |
0.032 |
|
438 |
|
|
FST010 |
Fasting Hypoglycemia |
35 |
0.032 |
|
439 |
|
|
CMB016 |
Combined Oxidative Phosphorylation Deficiency 5 |
35 |
0.032 |
|
440 |
|
P
|
ANT001 |
Anterolateral Myocardial Infarction |
34 |
0.032 |
|
441 |
|
c
|
PLM127 |
Pulmonary Hypertension, Primary, 3 |
34 |
0.032 |
|
442 |
|
|
DDN004 |
Duodenogastric Reflux |
33 |
0.032 |
|
443 |
|
|
MCR119 |
Microtia, Hearing Impairment, and Cleft Palate |
33 |
0.032 |
|
444 |
|
|
SHH004 |
Shaheen Syndrome |
32 |
0.032 |
|
445 |
|
|
KDN013 |
Kidney Hypertrophy |
32 |
0.032 |
|
446 |
|
|
HRD218 |
Hereditary Stomatocytosis |
32 |
0.032 |
|
447 |
|
|
PST103 |
Postpartum Psychosis |
32 |
0.032 |
|
448 |
|
|
GLT011 |
Glutamine Deficiency, Congenital |
32 |
0.032 |
|
449 |
|
c
|
DNT047 |
Dentinogenesis Imperfecta Type 2 |
31 |
0.032 |
|
450 |
|
|
NNS045 |
Non-Specific Syndromic Intellectual Disability |
31 |
0.032 |
|
451 |
|
P
|
RNL115 |
Renal Tubular Acidosis, Proximal |
31 |
0.032 |
|
452 |
|
|
ANM001 |
Anemia of Prematurity |
31 |
0.032 |
|
453 |
|
|
PLY150 |
Polykaryocytosis Inducer |
31 |
0.032 |
|
454 |
|
P
|
ACT028 |
Acute Closed-Angle Glaucoma |
30 |
0.032 |
|
455 |
|
|
PST044 |
Postorgasmic Illness Syndrome |
30 |
0.032 |
|
456 |
|
|
BRN008 |
Brain Compression |
29 |
0.032 |
|
457 |
|
c
|
PLM128 |
Pulmonary Hypertension, Primary, 2 |
29 |
0.032 |
|
458 |
|
|
THY039 |
Thyrotropin-Releasing Hormone Deficiency |
28 |
0.032 |
|
459 |
|
c
|
RNG022 |
Ring Chromosome 6 |
28 |
0.032 |
|
460 |
|
|
RVR002 |
Reversible Cerebral Vasoconstriction Syndrome |
28 |
0.032 |
|
461 |
|
|
MTB008 |
Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration |
28 |
0.032 |
|
462 |
|
|
ARG004 |
Argyria |
27 |
0.032 |
|
463 |
|
|
END051 |
Endolymphatic Sac Tumor |
27 |
0.032 |
|
464 |
|
|
PDT043 |
Pediatric Acute-Onset Neuropsychiatric Syndrome |
26 |
0.032 |
|
465 |
|
c
|
NNP011 |
Nanophthalmos 2 |
26 |
0.032 |
|
466 |
|
|
PHS029 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
26 |
0.032 |
|
467 |
|
|
STN013 |
Stenotrophomonas Maltophilia Infection |
25 |
0.032 |
|
468 |
|
|
CRT084 |
Creatinine Clearance Quantitative Trait Locus |
25 |
0.032 |
|
469 |
|
|
MTC094 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
24 |
0.032 |
|
470 |
|
|
CMB047 |
Combined Oxidative Phosphorylation Deficiency 18 |
24 |
0.032 |
|
471 |
|
|
BNT001 |
Banti's Syndrome |
21 |
0.032 |
|
472 |
|
|
ATR089 |
Atrioventricular Dissociation |
20 |
0.032 |
|
473 |
|
|
CNG491 |
Congenital Portosystemic Shunt |
17 |
0.032 |
|
474 |
|
|
LTH004 |
Lathyrism |
16 |
0.032 |
|
475 |
|
|
DMN042 |
Diaminopentanuria |
14 |
0.032 |
|