# |
|
Family |
MCID |
Name |
MIFTS |
Score |
1 |
|
|
ORN008 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to |
59 |
12.682 |
|
2 |
|
|
GYR004 |
Gyrate Atrophy of Choroid and Retina |
57 |
9.502 |
|
3 |
|
|
HYP774 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
55 |
6.675 |
|
4 |
|
|
DSR020 |
Disorder of Ornithine Metabolism |
8 |
3.287 |
|
5 |
|
|
URC002 |
Urea Cycle Disorder |
51 |
2.654 |
|
6 |
|
|
DSR067 |
Disorder of Ornithine or Proline Metabolism |
3 |
2.324 |
|
7 |
|
|
GLB028 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
8 |
2.267 |
|
8 |
|
|
CRB197 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to |
57 |
0.489 |
|
9 |
|
P
|
ENC018 |
Encephalopathy |
61 |
0.335 |
|
10 |
|
|
HPT019 |
Hepatic Encephalopathy |
60 |
0.285 |
|
11 |
|
|
HPT004 |
Hepatic Coma |
45 |
0.283 |
|
12 |
|
|
OCL069 |
Ocular Motor Apraxia |
51 |
0.266 |
|
13 |
|
|
LVR012 |
Liver Cirrhosis |
62 |
0.215 |
|
14 |
|
P
|
LVR013 |
Liver Disease |
68 |
0.209 |
|
15 |
|
|
ORN004 |
Ornithinemia |
17 |
0.209 |
|
16 |
|
P
|
CLR023 |
Colorectal Cancer |
99 |
0.197 |
|
17 |
|
P
|
NRB001 |
Neuroblastoma |
72 |
0.174 |
|
18 |
|
|
ORT008 |
Orotic Aciduria |
55 |
0.172 |
|
19 |
|
|
ADN018 |
Adenoma |
59 |
0.149 |
|
20 |
|
c
|
ACT134 |
Acute Liver Failure |
56 |
0.146 |
|
21 |
|
P
|
BRS047 |
Breast Cancer |
97 |
0.138 |
|
22 |
|
|
RYS001 |
Reye Syndrome |
51 |
0.138 |
|
23 |
|
c
|
INH020 |
Inherited Metabolic Disorder |
47 |
0.138 |
|
24 |
|
|
SLP001 |
Sleeping Sickness |
54 |
0.131 |
|
25 |
|
|
PPL022 |
Papilloma |
54 |
0.128 |
|
26 |
|
P
|
GLM045 |
Glioma |
63 |
0.125 |
|
27 |
|
|
CHL014 |
Cholera |
59 |
0.125 |
|
28 |
|
|
BRN004 |
Brain Edema |
56 |
0.125 |
|
29 |
|
|
HLX001 |
Helix Syndrome |
47 |
0.125 |
|
30 |
|
|
SQM002 |
Squamous Cell Papilloma |
46 |
0.125 |
|
31 |
|
P
|
ADN016 |
Adenocarcinoma |
64 |
0.122 |
|
32 |
|
|
YMN001 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
65 |
0.118 |
|
33 |
|
|
ATX038 |
Ataxia and Polyneuropathy, Adult-Onset |
45 |
0.111 |
|
34 |
|
P
|
GST053 |
Gastric Cancer |
83 |
0.107 |
|
35 |
|
|
GLL048 |
Glial Tumor |
45 |
0.107 |
|
36 |
|
P
|
HYP265 |
Hypotonia |
43 |
0.107 |
|
37 |
|
P
|
SKN015 |
Skin Carcinoma |
66 |
0.103 |
|
38 |
|
|
PRT037 |
Pertussis |
65 |
0.099 |
|
39 |
|
|
ERY051 |
Erythroleukemia, Familial |
56 |
0.099 |
|
40 |
|
P
|
RTN016 |
Retinal Degeneration |
53 |
0.099 |
|
41 |
|
|
ATS010 |
Autosomal Recessive Disease |
48 |
0.099 |
|
42 |
|
P
|
HPT023 |
Hepatocellular Carcinoma |
100 |
0.095 |
|
43 |
|
P
|
LKM002 |
Leukemia |
68 |
0.095 |
|
44 |
|
P
|
HPT021 |
Hepatitis |
67 |
0.095 |
|
45 |
|
|
CLR108 |
Colorectal Adenoma |
64 |
0.095 |
|
|
47 |
|
|
HYP266 |
Hypoxia |
57 |
0.095 |
|
48 |
|
P
|
GST044 |
Gastritis |
56 |
0.095 |
|
49 |
|
|
TRY001 |
Trypanosomiasis |
50 |
0.095 |
|
50 |
|
P
|
PRS040 |
Prostate Cancer |
97 |
0.091 |
|
51 |
|
P
|
PHC003 |
Pheochromocytoma |
71 |
0.091 |
|
52 |
|
|
CTR172 |
Citrullinemia, Classic |
64 |
0.091 |
|
53 |
|
|
LSH001 |
Leishmaniasis |
63 |
0.091 |
|
54 |
|
|
SQM006 |
Squamous Cell Carcinoma |
60 |
0.091 |
|
55 |
|
|
ARG007 |
Argininemia |
57 |
0.091 |
|
56 |
|
|
ADR040 |
Adrenal Gland Pheochromocytoma |
46 |
0.091 |
|
57 |
|
P
|
KLZ004 |
Kala-Azar 1 |
41 |
0.091 |
|
58 |
|
|
48X005 |
48,xyyy |
39 |
0.091 |
|
59 |
|
P
|
PRT133 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
81 |
0.086 |
|
60 |
|
P
|
FML011 |
Familial Adenomatous Polyposis |
72 |
0.086 |
|
61 |
|
|
HYP056 |
Hypoglycemia |
66 |
0.086 |
|
62 |
|
|
LYS003 |
Lysinuric Protein Intolerance |
57 |
0.086 |
|
63 |
|
P
|
HYP076 |
Hyperthyroidism |
55 |
0.086 |
|
64 |
|
c
|
INF145 |
Infantile Liver Failure Syndrome 1 |
50 |
0.086 |
|
65 |
|
P
|
RTN008 |
Retinitis Pigmentosa |
79 |
0.081 |
|
66 |
|
P
|
RTN024 |
Retinoblastoma |
73 |
0.081 |
|
67 |
|
P
|
THR014 |
Thrombocytopenia |
67 |
0.081 |
|
68 |
|
|
CLN015 |
Colon Adenocarcinoma |
65 |
0.081 |
|
69 |
|
|
CYS013 |
Cystinuria |
63 |
0.081 |
|
70 |
|
|
TRN015 |
Transient Cerebral Ischemia |
63 |
0.081 |
|
71 |
|
c
|
FML008 |
Familial Retinoblastoma |
53 |
0.081 |
|
72 |
|
P
|
ATR005 |
Atrophic Gastritis |
50 |
0.081 |
|
73 |
|
|
RTN023 |
Retinitis |
46 |
0.081 |
|
74 |
|
|
NRR001 |
Neuroretinitis |
42 |
0.081 |
|
75 |
|
|
ESP021 |
Esophageal Cancer |
90 |
0.076 |
|
76 |
|
P
|
BLD134 |
Bladder Cancer |
79 |
0.076 |
|
77 |
|
|
BRR014 |
Barrett Esophagus |
65 |
0.076 |
|
78 |
|
c
|
ATM011 |
Autoimmune Hepatitis |
63 |
0.076 |
|
79 |
|
|
FTT001 |
Fatty Liver Disease |
61 |
0.076 |
|
80 |
|
P
|
PNC044 |
Pancreatitis |
61 |
0.076 |
|
81 |
|
c
|
ACT027 |
Acute Pancreatitis |
60 |
0.076 |
|
82 |
|
|
PRT013 |
Portal Hypertension |
59 |
0.076 |
|
83 |
|
P
|
FBR017 |
Fibrosarcoma |
56 |
0.076 |
|
84 |
|
P
|
DRR001 |
Diarrhea |
55 |
0.076 |
|
85 |
|
c
|
VRL010 |
Viral Hepatitis |
52 |
0.076 |
|
86 |
|
|
SBC016 |
Subacute Delirium |
44 |
0.076 |
|
87 |
|
P
|
LNG032 |
Lung Cancer |
98 |
0.070 |
|
88 |
|
P
|
PNC035 |
Pancreatic Cancer |
84 |
0.070 |
|
89 |
|
|
GLB015 |
Glioblastoma Multiforme |
75 |
0.070 |
|
90 |
|
|
CHG001 |
Chagas Disease |
66 |
0.070 |
|
91 |
|
|
VSL002 |
Visual Epilepsy |
59 |
0.070 |
|
92 |
|
|
ISC004 |
Ischemia |
58 |
0.070 |
|
93 |
|
P
|
SZR006 |
Seizure Disorder |
56 |
0.070 |
|
94 |
|
|
VSC003 |
Visceral Leishmaniasis |
55 |
0.070 |
|
95 |
|
P
|
CRB088 |
Cerebral Atrophy |
37 |
0.070 |
|
96 |
|
|
HPT085 |
Hepatitis, Fulminant Viral |
32 |
0.070 |
|
97 |
|
|
STR067 |
Stroke, Ischemic |
81 |
0.064 |
|
98 |
|
|
PRP001 |
Propionic Acidemia |
65 |
0.064 |
|
99 |
|
P
|
ABD014 |
Abdominal Obesity-Metabolic Syndrome 1 |
64 |
0.064 |
|
100 |
|
c
|
PLY162 |
Polyposis Syndrome, Hereditary Mixed, 1 |
63 |
0.064 |
|
101 |
|
P
|
BLD124 |
Bleeding Disorder, Platelet-Type, 11 |
63 |
0.064 |
|
102 |
|
c
|
HPT001 |
Hepatitis C |
62 |
0.064 |
|
103 |
|
|
NTR005 |
Nutritional Deficiency Disease |
62 |
0.064 |
|
104 |
|
|
ARG002 |
Argininosuccinic Aciduria |
61 |
0.064 |
|
105 |
|
c
|
HPT016 |
Hepatitis B |
59 |
0.064 |
|
106 |
|
P
|
MYP006 |
Myopia |
55 |
0.064 |
|
107 |
|
|
NNL006 |
Non-Alcoholic Steatohepatitis |
54 |
0.064 |
|
108 |
|
|
INT075 |
Intracranial Hypertension |
53 |
0.064 |
|
109 |
|
|
KRT002 |
Keratomalacia |
47 |
0.064 |
|
110 |
|
|
SHR059 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis |
47 |
0.064 |
|
111 |
|
|
JNT004 |
Joint Laxity, Short Stature, and Myopia |
45 |
0.064 |
|
112 |
|
|
CYT002 |
Cytokine Deficiency |
42 |
0.064 |
|
113 |
|
|
RPD005 |
Rapidly Involuting Congenital Hemangioma |
38 |
0.064 |
|
114 |
|
|
KDN013 |
Kidney Hypertrophy |
32 |
0.064 |
|
115 |
|
c
|
HYP595 |
Hypertension, Essential |
84 |
0.057 |
|
116 |
|
|
CRH001 |
Crohn's Disease |
74 |
0.057 |
|
117 |
|
|
ULC004 |
Ulcerative Colitis |
73 |
0.057 |
|
118 |
|
P
|
HYP086 |
Hypothyroidism |
69 |
0.057 |
|
119 |
|
|
OST159 |
Osteogenic Sarcoma |
66 |
0.057 |
|
120 |
|
P
|
ATT013 |
Attention Deficit-Hyperactivity Disorder |
65 |
0.057 |
|
121 |
|
|
SRC014 |
Sarcoma |
65 |
0.057 |
|
122 |
|
P
|
PRS038 |
Personality Disorder |
65 |
0.057 |
|
123 |
|
|
PRT036 |
Peritonitis |
64 |
0.057 |
|
124 |
|
|
NRR002 |
Norrie Disease |
64 |
0.057 |
|
125 |
|
|
SKN016 |
Skin Disease |
63 |
0.057 |
|
126 |
|
P
|
PSR002 |
Psoriasis |
62 |
0.057 |
|
127 |
|
|
CRC021 |
Carcinosarcoma |
62 |
0.057 |
|
128 |
|
|
NNL005 |
Non-Alcoholic Fatty Liver Disease |
61 |
0.057 |
|
129 |
|
|
HYP066 |
Hyperglycemia |
61 |
0.057 |
|
130 |
|
|
RTN017 |
Retinal Detachment |
61 |
0.057 |
|
131 |
|
P
|
CTR002 |
Cataract |
60 |
0.057 |
|
132 |
|
|
HYD058 |
Hydrops, Lactic Acidosis, and Sideroblastic Anemia |
59 |
0.057 |
|
133 |
|
|
EYD002 |
Eye Disease |
58 |
0.057 |
|
134 |
|
P
|
MTC069 |
Mitochondrial Disorders |
56 |
0.057 |
|
135 |
|
P
|
NRP001 |
Neuropathy |
56 |
0.057 |
|
136 |
|
|
HYP005 |
Hypokalemia |
55 |
0.057 |
|
137 |
|
|
HYP060 |
Hyperinsulinism |
54 |
0.057 |
|
138 |
|
|
HYP276 |
Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant |
54 |
0.057 |
|
139 |
|
P
|
TRM003 |
Tremor |
54 |
0.057 |
|
140 |
|
|
HYP815 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis Syndrome |
53 |
0.057 |
|
141 |
|
|
SPN035 |
Spindle Cell Sarcoma |
53 |
0.057 |
|
142 |
|
|
CRB186 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to |
52 |
0.057 |
|
143 |
|
|
TRM010 |
Traumatic Brain Injury |
51 |
0.057 |
|
144 |
|
|
BRN071 |
Brain Injury |
49 |
0.057 |
|
145 |
|
|
HDN002 |
Head Injury |
46 |
0.057 |
|
146 |
|
|
ORG002 |
Organic Acidemia |
44 |
0.057 |
|
147 |
|
P
|
HYP769 |
Hyperlysinemia, Type I |
41 |
0.057 |
|
148 |
|
|
AMN002 |
Amino Acid Metabolic Disorder |
39 |
0.057 |
|
149 |
|
|
EPD052 |
Epidermolysis Bullosa Simplex Superficialis |
24 |
0.057 |
|
150 |
|
P
|
ALZ034 |
Alzheimer Disease |
88 |
0.050 |
|
151 |
|
c
|
SYS001 |
Systemic Lupus Erythematosus |
86 |
0.050 |
|
152 |
|
P
|
ATX030 |
Ataxia-Telangiectasia |
82 |
0.050 |
|
153 |
|
|
MLR004 |
Malaria |
81 |
0.050 |
|
154 |
|
P
|
RTT002 |
Rett Syndrome |
80 |
0.050 |
|
155 |
|
|
INS024 |
Insulin-Like Growth Factor I |
79 |
0.050 |
|
156 |
|
c
|
HMC039 |
Hemochromatosis, Type 1 |
74 |
0.050 |
|
157 |
|
|
MSC157 |
Muscular Dystrophy, Duchenne Type |
72 |
0.050 |
|
158 |
|
|
GST040 |
Gastric Adenocarcinoma |
70 |
0.050 |
|
159 |
|
P
|
MLN008 |
Melanoma |
69 |
0.050 |
|
160 |
|
|
CRB037 |
Cerebral Palsy |
69 |
0.050 |
|
161 |
|
|
PNC129 |
Pancreatic Adenocarcinoma |
68 |
0.050 |
|
162 |
|
P
|
CHR012 |
Chronic Granulomatous Disease |
67 |
0.050 |
|
163 |
|
P
|
PLM037 |
Pulmonary Hypertension |
67 |
0.050 |
|
164 |
|
P
|
MSC005 |
Muscular Dystrophy |
66 |
0.050 |
|
165 |
|
c
|
SML038 |
Small Cell Cancer of the Lung |
65 |
0.050 |
|
166 |
|
|
TTN003 |
Tetanus |
65 |
0.050 |
|
167 |
|
|
MSC007 |
Muscle Hypertrophy |
64 |
0.050 |
|
168 |
|
|
3HY005 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
62 |
0.050 |
|
169 |
|
c
|
SVR001 |
Severe Acute Respiratory Syndrome |
62 |
0.050 |
|
170 |
|
|
MNN042 |
Meningioma, Radiation-Induced |
62 |
0.050 |
|
171 |
|
|
FBR086 |
Fibrolamellar Carcinoma |
61 |
0.050 |
|
172 |
|
|
DPH001 |
Diphtheria |
60 |
0.050 |
|
173 |
|
|
LNG099 |
Lung Disease |
60 |
0.050 |
|
174 |
|
|
ORL011 |
Oral Cancer |
60 |
0.050 |
|
175 |
|
|
GST045 |
Gastroenteritis |
59 |
0.050 |
|
176 |
|
|
HLC007 |
Helicobacter Pylori Infection |
59 |
0.050 |
|
177 |
|
|
CNS004 |
Constipation |
58 |
0.050 |
|
178 |
|
|
ACR056 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
57 |
0.050 |
|
179 |
|
P
|
GLM007 |
Glomerulonephritis |
57 |
0.050 |
|
180 |
|
|
IRN002 |
Iron Metabolism Disease |
57 |
0.050 |
|
181 |
|
|
AGN016 |
Aging |
56 |
0.050 |
|
182 |
|
|
ACT058 |
Active Peptic Ulcer Disease |
55 |
0.050 |
|
183 |
|
P
|
ALP008 |
Alopecia |
54 |
0.050 |
|
184 |
|
|
PRS045 |
Prostatic Hypertrophy |
53 |
0.050 |
|
185 |
|
|
GST023 |
Gastric Ulcer |
53 |
0.050 |
|
186 |
|
|
TXC002 |
Toxic Encephalopathy |
53 |
0.050 |
|
187 |
|
|
PST011 |
Pustulosis of Palm and Sole |
52 |
0.050 |
|
188 |
|
P
|
RCT021 |
Rectum Cancer |
52 |
0.050 |
|
189 |
|
|
PRS021 |
Prostatic Adenoma |
51 |
0.050 |
|
190 |
|
|
KRT009 |
Keratosis |
51 |
0.050 |
|
191 |
|
P
|
AST007 |
Astrocytoma |
51 |
0.050 |
|
192 |
|
|
PRS129 |
Prostatic Hyperplasia, Benign |
49 |
0.050 |
|
193 |
|
c
|
DRR009 |
Diarrhea 6 |
46 |
0.050 |
|
194 |
|
c
|
MLG068 |
Malignant Glioma |
46 |
0.050 |
|
195 |
|
|
CRB004 |
Cerebral Artery Occlusion |
45 |
0.050 |
|
196 |
|
|
CRT015 |
Carotid Artery Occlusion |
45 |
0.050 |
|
197 |
|
c
|
PRM038 |
Primary Agammaglobulinemia |
44 |
0.050 |
|
198 |
|
|
DRG002 |
Drug-Induced Hepatitis |
43 |
0.050 |
|
199 |
|
|
ANX004 |
Anoxia |
40 |
0.050 |
|
200 |
|
|
CHL045 |
Choline Deficiency Disease |
39 |
0.050 |
|
201 |
|
|
ACR005 |
Acrodermatitis |
38 |
0.050 |
|
202 |
|
|
HRW001 |
Hair Whorl |
36 |
0.050 |
|
203 |
|
|
TRD008 |
Triiodothyronine Receptor Auxiliary Protein |
34 |
0.050 |
|
204 |
|
|
CHL079 |
Children's Interstitial Lung Disease |
26 |
0.050 |
|
205 |
|
|
ENT007 |
Enteropathica |
26 |
0.050 |
|
206 |
|
|
PPL061 |
Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome |
25 |
0.050 |
|
207 |
|
|
MYL069 |
Myeloma, Multiple |
85 |
0.041 |
|
208 |
|
|
CYS001 |
Cystic Fibrosis |
81 |
0.041 |
|
209 |
|
P
|
GLM040 |
Glioma Susceptibility 1 |
81 |
0.041 |
|
210 |
|
P
|
LKM071 |
Leukemia, Chronic Lymphocytic |
79 |
0.041 |
|
211 |
|
|
PLM134 |
Pulmonary Fibrosis, Idiopathic |
77 |
0.041 |
|
212 |
|
|
PHN003 |
Phenylketonuria |
75 |
0.041 |
|
213 |
|
|
END057 |
Endometrial Cancer |
74 |
0.041 |
|
214 |
|
|
PLM129 |
Pulmonary Disease, Chronic Obstructive |
73 |
0.041 |
|
215 |
|
P
|
KDN018 |
Kidney Disease |
72 |
0.041 |
|
216 |
|
P
|
HNT016 |
Huntington Disease |
72 |
0.041 |
|
217 |
|
c
|
LKM063 |
Leukemia, Chronic Myeloid |
72 |
0.041 |
|
218 |
|
P
|
EPL164 |
Epilepsy |
71 |
0.041 |
|
219 |
|
|
ADL002 |
Adult Syndrome |
70 |
0.041 |
|
220 |
|
P
|
ASP006 |
Aspergillosis |
69 |
0.041 |
|
221 |
|
|
PLM001 |
Pulmonary Tuberculosis |
69 |
0.041 |
|
222 |
|
P
|
LYM118 |
Lymphoma |
68 |
0.041 |
|
223 |
|
c
|
BSL007 |
Basal Cell Carcinoma |
68 |
0.041 |
|
224 |
|
c
|
MGR028 |
Migraine with or Without Aura 1 |
67 |
0.041 |
|
225 |
|
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
0.041 |
|
226 |
|
c
|
FML346 |
Familial Adenomatous Polyposis 1 |
66 |
0.041 |
|
227 |
|
P
|
PLM036 |
Pulmonary Fibrosis |
65 |
0.041 |
|
228 |
|
|
LWC002 |
Lowe Oculocerebrorenal Syndrome |
65 |
0.041 |
|
229 |
|
P
|
DBT009 |
Diabetes Mellitus |
64 |
0.041 |
|
230 |
|
|
ALC028 |
Alacrima, Achalasia, and Mental Retardation Syndrome |
64 |
0.041 |
|
231 |
|
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
0.041 |
|
232 |
|
|
END041 |
Endometrial Adenocarcinoma |
63 |
0.041 |
|
233 |
|
|
CLT003 |
Colitis |
62 |
0.041 |
|
234 |
|
P
|
ESP024 |
Esophagitis |
62 |
0.041 |
|
235 |
|
|
ALL026 |
Allergic Hypersensitivity Disease |
62 |
0.041 |
|
236 |
|
P
|
PRM006 |
Primary Biliary Cirrhosis |
62 |
0.041 |
|
237 |
|
|
CHL068 |
Cholestasis |
61 |
0.041 |
|
238 |
|
c
|
WLM018 |
Wilms Tumor 5 |
61 |
0.041 |
|
239 |
|
P
|
MYL006 |
Myeloid Leukemia |
60 |
0.041 |
|
240 |
|
P
|
FTT008 |
Fatty Liver Disease, Nonalcoholic 1 |
60 |
0.041 |
|
241 |
|
|
STT001 |
Status Epilepticus |
60 |
0.041 |
|
242 |
|
|
THY029 |
Thyroid Carcinoma |
59 |
0.041 |
|
243 |
|
|
GRD007 |
Grade Iii Astrocytoma |
59 |
0.041 |
|
244 |
|
|
ALK013 |
Alkaptonuria |
58 |
0.041 |
|
245 |
|
P
|
GLL018 |
Gallbladder Cancer |
57 |
0.041 |
|
246 |
|
P
|
INF032 |
Infertility |
57 |
0.041 |
|
247 |
|
|
CHL067 |
Cholecystitis |
57 |
0.041 |
|
248 |
|
P
|
EXN002 |
Exanthem |
57 |
0.041 |
|
249 |
|
|
DSS009 |
Disseminated Intravascular Coagulation |
57 |
0.041 |
|
250 |
|
|
BLR008 |
Bilirubin Metabolic Disorder |
57 |
0.041 |
|
251 |
|
P
|
PYL005 |
Pyelonephritis |
56 |
0.041 |
|
252 |
|
|
EMB004 |
Embryonal Carcinoma |
56 |
0.041 |
|
253 |
|
|
ISV001 |
Isovaleric Acidemia |
55 |
0.041 |
|
254 |
|
|
HMP005 |
Hemiplegia |
55 |
0.041 |
|
255 |
|
|
GLS001 |
Gliosarcoma |
54 |
0.041 |
|
256 |
|
P
|
INF037 |
Inflammatory Bowel Disease |
54 |
0.041 |
|
257 |
|
P
|
INS002 |
in Situ Carcinoma |
53 |
0.041 |
|
258 |
|
P
|
HMC002 |
Homocystinuria |
53 |
0.041 |
|
259 |
|
|
PLY118 |
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency |
53 |
0.041 |
|
260 |
|
P
|
RTN018 |
Retinal Disease |
53 |
0.041 |
|
261 |
|
|
CHR073 |
Choreatic Disease |
52 |
0.041 |
|
262 |
|
|
PRP016 |
Paraplegia |
52 |
0.041 |
|
263 |
|
|
TLN003 |
Telangiectasis |
52 |
0.041 |
|
264 |
|
P
|
SPP010 |
Suppressor of Tumorigenicity 3 |
51 |
0.041 |
|
265 |
|
P
|
LCT001 |
Lactic Acidosis |
51 |
0.041 |
|
266 |
|
|
PNC041 |
Pancreatic Ductal Adenocarcinoma |
51 |
0.041 |
|
267 |
|
|
SKN013 |
Skin Benign Neoplasm |
51 |
0.041 |
|
268 |
|
|
HPT014 |
Hepatorenal Syndrome |
50 |
0.041 |
|
269 |
|
|
STM007 |
Stomatitis |
50 |
0.041 |
|
270 |
|
|
47X002 |
47,xyy |
49 |
0.041 |
|
271 |
|
c
|
INV001 |
Invasive Aspergillosis |
49 |
0.041 |
|
272 |
|
|
VCC001 |
Vaccinia |
49 |
0.041 |
|
273 |
|
P
|
NGH001 |
Night Blindness |
48 |
0.041 |
|
274 |
|
|
CHR607 |
Chorea, Childhood-Onset, with Psychomotor Retardation |
47 |
0.041 |
|
275 |
|
|
LYM019 |
Lymphosarcoma |
46 |
0.041 |
|
276 |
|
|
CNT025 |
Central Pontine Myelinolysis |
46 |
0.041 |
|
277 |
|
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
44 |
0.041 |
|
278 |
|
|
CLN044 |
Colon Adenoma |
44 |
0.041 |
|
279 |
|
|
CRB090 |
Cerebral Hypoxia |
44 |
0.041 |
|
280 |
|
|
VSL013 |
Visual Impairment and Progressive Phthisis Bulbi |
41 |
0.041 |
|
281 |
|
|
SKN020 |
Skin Papilloma |
39 |
0.041 |
|
282 |
|
|
WLL004 |
Wallerian Degeneration |
39 |
0.041 |
|
283 |
|
|
BTN004 |
Biotin Deficiency |
38 |
0.041 |
|
284 |
|
|
SPS019 |
Spastic Paraparesis |
38 |
0.041 |
|
285 |
|
|
BRN135 |
Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency |
38 |
0.041 |
|
286 |
|
|
CRT012 |
Cortical Blindness |
37 |
0.041 |
|
287 |
|
|
ARG004 |
Argyria |
27 |
0.041 |
|
288 |
|
|
MSN003 |
Mesenteric Vascular Occlusion |
27 |
0.041 |
|
289 |
|
|
SCC002 |
Saccharopinuria |
24 |
0.041 |
|
290 |
|
|
AMN012 |
Aminoacidopathies |
21 |
0.041 |
|
291 |
|
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
20 |
0.041 |
|
292 |
|
P
|
INB001 |
Inborn Amino Acid Metabolism Disorder |
10 |
0.041 |
|
293 |
|
P
|
OVR042 |
Ovarian Cancer |
88 |
0.029 |
|
294 |
|
c
|
MCL042 |
Macular Degeneration, Age-Related, 1 |
85 |
0.029 |
|
295 |
|
|
PFF001 |
Pfeiffer Syndrome |
79 |
0.029 |
|
296 |
|
P
|
LNG064 |
Lung Cancer Susceptibility 3 |
78 |
0.029 |
|
297 |
|
P
|
MDL005 |
Medulloblastoma |
77 |
0.029 |
|
298 |
|
|
CRV035 |
Cervical Cancer |
76 |
0.029 |
|
299 |
|
P
|
RSP003 |
Respiratory Failure |
74 |
0.029 |
|
300 |
|
|
BRN028 |
Brain Cancer |
74 |
0.029 |
|
301 |
|
P
|
SCH015 |
Schizophrenia |
74 |
0.029 |
|
302 |
|
c
|
MNN043 |
Meningioma, Familial |
74 |
0.029 |
|
303 |
|
c
|
HYP836 |
Hypercholesterolemia, Familial, 1 |
73 |
0.029 |
|
304 |
|
c
|
SPN225 |
Spondyloarthropathy 1 |
73 |
0.029 |
|
305 |
|
P
|
CNR004 |
Cone-Rod Dystrophy 2 |
73 |
0.029 |
|
306 |
|
|
XRD010 |
Xeroderma Pigmentosum, Variant Type |
73 |
0.029 |
|
307 |
|
P
|
MLT020 |
Multiple Sclerosis |
72 |
0.029 |
|
308 |
|
c
|
HPT073 |
Hepatitis C Virus |
72 |
0.029 |
|
309 |
|
|
WLS001 |
Wilson Disease |
71 |
0.029 |
|
310 |
|
P
|
ATS364 |
Autism |
70 |
0.029 |
|
311 |
|
|
LPD012 |
Lipoid Congenital Adrenal Hyperplasia |
70 |
0.029 |
|
312 |
|
P
|
MYC007 |
Myocardial Infarction |
70 |
0.029 |
|
313 |
|
|
DFC004 |
Deficiency Anemia |
70 |
0.029 |
|
314 |
|
|
DWN001 |
Down Syndrome |
70 |
0.029 |
|
315 |
|
|
LGH007 |
Leigh Syndrome |
70 |
0.029 |
|
316 |
|
c
|
CRB175 |
Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 |
70 |
0.029 |
|
317 |
|
P
|
MYP004 |
Myopathy |
70 |
0.029 |
|
318 |
|
P
|
TBR001 |
Tuberous Sclerosis |
70 |
0.029 |
|
319 |
|
|
PLY001 |
Polycythemia Vera |
69 |
0.029 |
|
320 |
|
P
|
MCP040 |
Mucopolysaccharidosis-Plus Syndrome |
69 |
0.029 |
|
321 |
|
P
|
MPL001 |
Maple Syrup Urine Disease |
69 |
0.029 |
|
322 |
|
P
|
ANG001 |
Angelman Syndrome |
69 |
0.029 |
|
323 |
|
P
|
SYS005 |
Systemic Scleroderma |
68 |
0.029 |
|
324 |
|
|
SKN019 |
Skin Melanoma |
68 |
0.029 |
|
325 |
|
c
|
CRD086 |
Cardiomyopathy, Familial Hypertrophic, 1 |
68 |
0.029 |
|
326 |
|
c
|
HMP004 |
Hemophilia B |
68 |
0.029 |
|
327 |
|
|
CNN005 |
Connective Tissue Disease |
68 |
0.029 |
|
328 |
|
|
BRK010 |
Burkitt Lymphoma |
67 |
0.029 |
|
329 |
|
|
CRB039 |
Cerebrovascular Disease |
67 |
0.029 |
|
330 |
|
P
|
HYP098 |
Hypereosinophilic Syndrome |
67 |
0.029 |
|
331 |
|
|
ANM044 |
Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities |
67 |
0.029 |
|
332 |
|
c
|
TYR012 |
Tyrosinemia, Type I |
66 |
0.029 |
|
333 |
|
|
ALP042 |
Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity |
66 |
0.029 |
|
334 |
|
|
ALC007 |
Alcohol Dependence |
66 |
0.029 |
|
335 |
|
|
ART001 |
Arterial Tortuosity Syndrome |
66 |
0.029 |
|
336 |
|
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
0.029 |
|
337 |
|
|
AND002 |
Androgen Insensitivity Syndrome |
66 |
0.029 |
|
338 |
|
P
|
HYD006 |
Hydrocephalus |
66 |
0.029 |
|
339 |
|
|
HTC003 |
Hutchinson-Gilford Progeria Syndrome |
65 |
0.029 |
|
340 |
|
P
|
CNJ013 |
Conjunctivitis |
65 |
0.029 |
|
341 |
|
|
PPL049 |
Papillon-Lefevre Syndrome |
65 |
0.029 |
|
342 |
|
P
|
LPS002 |
Liposarcoma |
65 |
0.029 |
|
343 |
|
|
IRR002 |
Irritable Bowel Syndrome |
65 |
0.029 |
|
344 |
|
P
|
HRP006 |
Herpes Simplex |
65 |
0.029 |
|
345 |
|
P
|
RHB008 |
Rhabdoid Tumor Predisposition Syndrome 1 |
65 |
0.029 |
|
346 |
|
c
|
DBT099 |
Diabetes Mellitus, Type I |
65 |
0.029 |
|
347 |
|
|
AND019 |
Andersen Cardiodysrhythmic Periodic Paralysis |
65 |
0.029 |
|
348 |
|
|
NRM005 |
Neuromuscular Disease |
64 |
0.029 |
|
349 |
|
|
CLF027 |
Cleft Palate, Isolated |
64 |
0.029 |
|
350 |
|
|
GST106 |
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets |
64 |
0.029 |
|
351 |
|
|
ART002 |
Arts Syndrome |
64 |
0.029 |
|
352 |
|
|
HYP020 |
Hyperprolactinemia |
64 |
0.029 |
|
353 |
|
c
|
MCP049 |
Mucopolysaccharidosis, Type Vii |
63 |
0.029 |
|
354 |
|
P
|
NTR004 |
Neutropenia |
63 |
0.029 |
|
355 |
|
P
|
ANR048 |
Aniridia 1 |
63 |
0.029 |
|
356 |
|
P
|
VSC007 |
Vascular Disease |
63 |
0.029 |
|
357 |
|
c
|
MLG084 |
Malignant Fibrous Histiocytoma |
63 |
0.029 |
|
358 |
|
P
|
CRG003 |
Crigler-Najjar Syndrome, Type I |
63 |
0.029 |
|
359 |
|
|
ANR007 |
Anorexia Nervosa |
63 |
0.029 |
|
360 |
|
|
DPR016 |
Depression |
63 |
0.029 |
|
361 |
|
|
RHB001 |
Rhabdoid Cancer |
63 |
0.029 |
|
362 |
|
|
VTR013 |
Vitreoretinopathy, Neovascular Inflammatory |
62 |
0.029 |
|
363 |
|
c
|
FNC043 |
Fanconi Anemia, Complementation Group E |
62 |
0.029 |
|
364 |
|
P
|
TRC086 |
Trichohepatoenteric Syndrome 1 |
62 |
0.029 |
|
365 |
|
P
|
VSC011 |
Vasculitis |
62 |
0.029 |
|
366 |
|
|
ATM095 |
Autoimmune Disease |
62 |
0.029 |
|
367 |
|
P
|
ACR001 |
Aicardi-Goutieres Syndrome |
62 |
0.029 |
|
368 |
|
|
TXC005 |
Toxic Shock Syndrome |
62 |
0.029 |
|
369 |
|
|
BLD131 |
Bladder Urothelial Carcinoma |
62 |
0.029 |
|
370 |
|
|
DRM006 |
Dermatitis |
61 |
0.029 |
|
371 |
|
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
0.029 |
|
372 |
|
P
|
ENC004 |
Encephalitis |
61 |
0.029 |
|
373 |
|
|
ALC006 |
Alcoholic Hepatitis |
61 |
0.029 |
|
374 |
|
P
|
HMN010 |
Hemangioma |
61 |
0.029 |
|
375 |
|
|
DCB001 |
Decubitus Ulcer |
61 |
0.029 |
|
376 |
|
P
|
KDN017 |
Kidney Cancer |
60 |
0.029 |
|
377 |
|
|
SPN186 |
Spinal Cord Injury |
60 |
0.029 |
|
378 |
|
|
SHG001 |
Shigellosis |
60 |
0.029 |
|
379 |
|
P
|
TXP001 |
Toxoplasmosis |
60 |
0.029 |
|
380 |
|
P
|
ATS308 |
Autosomal Dominant Cerebellar Ataxia |
60 |
0.029 |
|
381 |
|
|
ACN002 |
Acanthosis Nigricans |
60 |
0.029 |
|
382 |
|
P
|
PLY169 |
Polycystic Liver Disease 1 with or Without Kidney Cysts |
60 |
0.029 |
|
383 |
|
|
INS001 |
Insulinoma |
60 |
0.029 |
|
384 |
|
c
|
ACT071 |
Acute Kidney Failure |
60 |
0.029 |
|
385 |
|
|
SPP011 |
Suppression of Tumorigenicity 12 |
59 |
0.029 |
|
386 |
|
P
|
AXN002 |
Axenfeld-Rieger Syndrome |
59 |
0.029 |
|
387 |
|
P
|
MCR010 |
Microcephaly |
59 |
0.029 |
|
388 |
|
P
|
LYM033 |
Lymphoproliferative Syndrome |
59 |
0.029 |
|
389 |
|
c
|
LTN004 |
Late-Onset Retinal Degeneration |
59 |
0.029 |
|
390 |
|
P
|
BRS044 |
Breast Adenocarcinoma |
59 |
0.029 |
|
391 |
|
|
SRC027 |
Sarcoma, Synovial |
58 |
0.029 |
|
392 |
|
|
CRZ002 |
Crouzon Syndrome with Acanthosis Nigricans |
58 |
0.029 |
|
393 |
|
|
CSY001 |
C Syndrome |
58 |
0.029 |
|
394 |
|
|
ANT024 |
Anthrax Disease |
58 |
0.029 |
|
395 |
|
c
|
PTT056 |
Pituitary Adenoma 1, Multiple Types |
58 |
0.029 |
|
396 |
|
|
CCC001 |
Coccidioidomycosis |
58 |
0.029 |
|
397 |
|
|
INT324 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
58 |
0.029 |
|
398 |
|
|
BRS051 |
Breast Disease |
58 |
0.029 |
|
399 |
|
|
ADR005 |
Adrenal Carcinoma |
58 |
0.029 |
|
400 |
|
|
ATX031 |
Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus |
58 |
0.029 |
|
401 |
|
|
MNT002 |
Mental Depression |
58 |
0.029 |
|
402 |
|
|
ACY009 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of |
58 |
0.029 |
|
403 |
|
P
|
CND004 |
Candidiasis |
58 |
0.029 |
|
404 |
|
P
|
PRP019 |
Peripheral Nervous System Disease |
58 |
0.029 |
|
405 |
|
|
CHR081 |
Choroideremia |
57 |
0.029 |
|
406 |
|
P
|
PLV020 |
Pelvic Organ Prolapse |
57 |
0.029 |
|
407 |
|
c
|
CHL119 |
Cholangitis, Primary Sclerosing |
57 |
0.029 |
|
408 |
|
P
|
HDC001 |
Headache |
57 |
0.029 |
|
409 |
|
|
THR024 |
Thrombosis |
57 |
0.029 |
|
410 |
|
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly |
57 |
0.029 |
|
411 |
|
P
|
CTR177 |
Citrullinemia, Type Ii, Adult-Onset |
57 |
0.029 |
|
412 |
|
|
GLT035 |
Glutaric Acidemia I |
57 |
0.029 |
|
413 |
|
|
SCH014 |
Schistosomiasis |
57 |
0.029 |
|
414 |
|
|
SKN022 |
Skin Squamous Cell Carcinoma |
57 |
0.029 |
|
415 |
|
|
AYM001 |
Ayme-Gripp Syndrome |
57 |
0.029 |
|
416 |
|
|
FRC011 |
Fructose Intolerance, Hereditary |
57 |
0.029 |
|
417 |
|
c
|
BSL024 |
Basal Cell Carcinoma 1 |
56 |
0.029 |
|
418 |
|
P
|
PLY018 |
Polycythemia |
56 |
0.029 |
|
419 |
|
|
LST001 |
Listeriosis |
56 |
0.029 |
|
420 |
|
|
TRN018 |
Transitional Cell Carcinoma |
56 |
0.029 |
|
421 |
|
|
ALL006 |
Allergic Asthma |
56 |
0.029 |
|
422 |
|
|
PLS011 |
Plasmacytoma |
56 |
0.029 |
|
423 |
|
|
BCT022 |
Bacterial Infectious Disease |
56 |
0.029 |
|
424 |
|
|
MTH009 |
Mouth Disease |
56 |
0.029 |
|
425 |
|
P
|
LBR014 |
Leber Congenital Amaurosis 4 |
56 |
0.029 |
|
426 |
|
c
|
MYS033 |
Miyoshi Muscular Dystrophy 1 |
56 |
0.029 |
|
427 |
|
|
ANS023 |
Anus, Imperforate |
56 |
0.029 |
|
428 |
|
|
HPT022 |
Hepatoblastoma |
56 |
0.029 |
|
429 |
|
|
MCL006 |
Macular Retinal Edema |
55 |
0.029 |
|
430 |
|
P
|
ART153 |
Arthrochalasia Ehlers-Danlos Syndrome |
55 |
0.029 |
|
431 |
|
|
AMB001 |
Amebiasis |
55 |
0.029 |
|
432 |
|
P
|
MLN007 |
Male Infertility |
55 |
0.029 |
|
433 |
|
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
55 |
0.029 |
|
434 |
|
P
|
ALP106 |
Alport Syndrome 1, X-Linked |
55 |
0.029 |
|
435 |
|
|
JVN009 |
Juvenile Pilocytic Astrocytoma |
55 |
0.029 |
|
436 |
|
|
CLF004 |
Cleft Lip/palate |
54 |
0.029 |
|
437 |
|
|
AMN003 |
Amnestic Disorder |
54 |
0.029 |
|
438 |
|
|
PRT038 |
Protein-Energy Malnutrition |
54 |
0.029 |
|
439 |
|
|
THR013 |
Thoracic Outlet Syndrome |
54 |
0.029 |
|
440 |
|
|
ANL018 |
Analbuminemia |
54 |
0.029 |
|
441 |
|
c
|
PST005 |
Posterior Uveitis |
54 |
0.029 |
|
442 |
|
|
MYM001 |
Myoma |
54 |
0.029 |
|
443 |
|
|
CRB150 |
Cerebral Creatine Deficiency Syndrome 2 |
53 |
0.029 |
|
444 |
|
P
|
SHR001 |
Short Bowel Syndrome |
53 |
0.029 |
|
445 |
|
|
CLF001 |
Cleft Lip |
53 |
0.029 |
|
446 |
|
|
GTR002 |
Goiter |
53 |
0.029 |
|
447 |
|
P
|
ACT008 |
Actinic Keratosis |
53 |
0.029 |
|
448 |
|
P
|
INT068 |
Intestinal Disease |
53 |
0.029 |
|
449 |
|
c
|
MCR113 |
Microvascular Complications of Diabetes 3 |
52 |
0.029 |
|
450 |
|
c
|
MLN055 |
Melanoma, Cutaneous Malignant 10 |
52 |
0.029 |
|
451 |
|
c
|
NGH026 |
Night Blindness, Congenital Stationary, Type 1a |
52 |
0.029 |
|
452 |
|
|
BTT001 |
Bietti Crystalline Corneoretinal Dystrophy |
52 |
0.029 |
|
453 |
|
|
TRC096 |
Trichothiodystrophy |
52 |
0.029 |
|
454 |
|
P
|
DDN001 |
Duodenal Ulcer |
52 |
0.029 |
|
455 |
|
c
|
ACR116 |
Aicardi-Goutieres Syndrome 1 |
52 |
0.029 |
|
456 |
|
|
PPT001 |
Peptic Esophagitis |
52 |
0.029 |
|
457 |
|
|
APR001 |
Apraxia |
52 |
0.029 |
|
458 |
|
|
PRL019 |
Prolidase Deficiency |
52 |
0.029 |
|
459 |
|
|
PNG002 |
Pain Agnosia |
51 |
0.029 |
|
460 |
|
|
SPS003 |
Spastic Diplegia |
51 |
0.029 |
|
461 |
|
P
|
HMP007 |
Hemophilia |
51 |
0.029 |
|
462 |
|
|
THR004 |
Thrombocytosis |
51 |
0.029 |
|
463 |
|
|
MTH078 |
Methylmalonic Aciduria, Cblb Type |
51 |
0.029 |
|
464 |
|
|
CLR109 |
Colorectal Adenocarcinoma |
51 |
0.029 |
|
465 |
|
|
ACT049 |
Acute Disseminated Encephalomyelitis |
51 |
0.029 |
|
466 |
|
|
HND002 |
Hand, Foot and Mouth Disease |
51 |
0.029 |
|
467 |
|
P
|
RNL007 |
Renal Tubular Acidosis |
51 |
0.029 |
|
468 |
|
|
END086 |
End Stage Renal Disease |
51 |
0.029 |
|
469 |
|
|
CRD229 |
Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism |
51 |
0.029 |
|
470 |
|
|
CRV040 |
Cervix Carcinoma |
51 |
0.029 |
|
471 |
|
P
|
CHL066 |
Cholangitis |
51 |
0.029 |
|
472 |
|
|
ALP041 |
Alopecia, Neurologic Defects, and Endocrinopathy Syndrome |
51 |
0.029 |
|
473 |
|
|
EPD061 |
Epidermolysis Bullosa, Junctional, Herlitz Type |
51 |
0.029 |
|
474 |
|
|
ADR042 |
Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency |
50 |
0.029 |
|
475 |
|
P
|
FNC004 |
Fanconi Syndrome |
50 |
0.029 |
|
476 |
|
P
|
OVR082 |
Overgrowth Syndrome |
50 |
0.029 |
|
477 |
|
|
SPN021 |
Spinal Meningioma |
50 |
0.029 |
|
478 |
|
P
|
OBS001 |
Obstructive Jaundice |
50 |
0.029 |
|
479 |
|
|
MTB004 |
Metabolic Acidosis |
50 |
0.029 |
|
480 |
|
c
|
LRG001 |
Large Cell Carcinoma |
50 |
0.029 |
|
481 |
|
P
|
MTH008 |
Methylmalonic Acidemia |
50 |
0.029 |
|
482 |
|
|
HYP017 |
Hypophosphatemia |
50 |
0.029 |
|
483 |
|
|
PPL021 |
Papilledema |
49 |
0.029 |
|
484 |
|
|
VLV047 |
Volvulus of Midgut |
49 |
0.029 |
|
485 |
|
|
DRR003 |
Diarrhea 5, with Tufting Enteropathy, Congenital |
49 |
0.029 |
|
486 |
|
P
|
OPN001 |
Open-Angle Glaucoma |
49 |
0.029 |
|
487 |
|
|
SLD003 |
Sialadenitis |
49 |
0.029 |
|
488 |
|
|
3MT001 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
49 |
0.029 |
|
489 |
|
|
MTC005 |
Mitochondrial Metabolism Disease |
49 |
0.029 |
|
490 |
|
|
DDN006 |
Duodenitis |
49 |
0.029 |
|
491 |
|
P
|
ALP061 |
Alopecia, Androgenetic, 1 |
49 |
0.029 |
|
492 |
|
|
LRN003 |
Learning Disability |
49 |
0.029 |
|
493 |
|
P
|
SCL009 |
Sclerosing Cholangitis |
48 |
0.029 |
|
494 |
|
|
GNG008 |
Ganglioneuroblastoma |
48 |
0.029 |
|
495 |
|
|
HYP025 |
Hyperphosphatemia |
48 |
0.029 |
|
496 |
|
P
|
MRC003 |
Mercury Poisoning |
48 |
0.029 |
|
497 |
|
|
MCR209 |
Microcephaly, Epilepsy, and Diabetes Syndrome |
47 |
0.029 |
|
498 |
|
|
PPL002 |
Papillary Carcinoma |
47 |
0.029 |
|
499 |
|
|
ADN001 |
Adenosine Deaminase Deficiency |
47 |
0.029 |
|
500 |
|
|
THY128 |
Thyroid Tumor |
47 |
0.029 |
|
501 |
|
|
CLN019 |
Colonic Disease |
47 |
0.029 |
|
502 |
|
P
|
BLR006 |
Biliary Tract Disease |
47 |
0.029 |
|
503 |
|
c
|
MCR120 |
Microvascular Complications of Diabetes 7 |
47 |
0.029 |
|
504 |
|
|
LYM009 |
Lymphocytic Choriomeningitis |
47 |
0.029 |
|
505 |
|
|
KHN001 |
Kuhnt-Junius Degeneration |
47 |
0.029 |
|
506 |
|
|
TTR011 |
Tetraploidy |
47 |
0.029 |
|
507 |
|
P
|
KRN004 |
Kernicterus |
47 |
0.029 |
|
508 |
|
|
MCL009 |
Mcleod Syndrome |
46 |
0.029 |
|
509 |
|
P
|
VTR007 |
Vitreoretinopathy |
46 |
0.029 |
|
510 |
|
c
|
CRV002 |
Cervix Uteri Carcinoma in Situ |
46 |
0.029 |
|
511 |
|
|
MTS001 |
Mutism |
46 |
0.029 |
|
512 |
|
|
FCL012 |
Facial Paralysis |
46 |
0.029 |
|
513 |
|
|
AND014 |
Androgenic Alopecia |
46 |
0.029 |
|
514 |
|
|
CHD004 |
Chudley-Mccullough Syndrome |
46 |
0.029 |
|
515 |
|
P
|
BNG032 |
Benign Mesothelioma |
46 |
0.029 |
|
516 |
|
|
CHR008 |
Choroiditis |
46 |
0.029 |
|
517 |
|
P
|
HMR005 |
Hemorrhoid |
46 |
0.029 |
|
518 |
|
c
|
MCR261 |
Microphthalmia, Syndromic 2 |
46 |
0.029 |
|
519 |
|
|
SVN002 |
Sveinsson Chorioretinal Atrophy |
46 |
0.029 |
|
520 |
|
|
MXD026 |
Mixed Glioma |
45 |
0.029 |
|
|
522 |
|
|
URL001 |
Urolithiasis |
45 |
0.029 |
|
523 |
|
|
MLT018 |
Multiple Carboxylase Deficiency |
45 |
0.029 |
|
524 |
|
c
|
SPR009 |
Sporadic Breast Cancer |
45 |
0.029 |
|
525 |
|
|
GRD001 |
Giardiasis |
45 |
0.029 |
|
526 |
|
|
SPS057 |
Spasticity |
45 |
0.029 |
|
527 |
|
c
|
PCH010 |
Pachyonychia Congenita 3 |
44 |
0.029 |
|
528 |
|
|
DWR001 |
Dwarfism |
44 |
0.029 |
|
529 |
|
|
HPT067 |
Hepatocellular Adenoma |
44 |
0.029 |
|
530 |
|
|
PPL001 |
Papillary Adenoma |
44 |
0.029 |
|
531 |
|
P
|
EPN001 |
Ependymoblastoma |
44 |
0.029 |
|
532 |
|
|
HPT082 |
Hepatic Adenomas, Familial |
44 |
0.029 |
|
533 |
|
|
ATR013 |
Atrichia with Papular Lesions |
44 |
0.029 |
|
534 |
|
|
MND023 |
Mend Syndrome |
43 |
0.029 |
|
535 |
|
|
GLL017 |
Gallbladder Adenocarcinoma |
43 |
0.029 |
|
536 |
|
|
ENC005 |
Encephalomalacia |
43 |
0.029 |
|
537 |
|
P
|
HYP347 |
Hypotonia-Cystinuria Syndrome |
43 |
0.029 |
|
538 |
|
|
MDD018 |
Middle East Respiratory Syndrome |
43 |
0.029 |
|
539 |
|
|
ORL015 |
Oral Squamous Cell Carcinoma |
43 |
0.029 |
|
540 |
|
P
|
HRD018 |
Hair Disease |
43 |
0.029 |
|
541 |
|
|
HMP009 |
Haemophilus Influenzae |
43 |
0.029 |
|
542 |
|
|
MST004 |
Mast Cell Neoplasm |
42 |
0.029 |
|
543 |
|
c
|
BDY007 |
Body Mass Index Quantitative Trait Locus 1 |
42 |
0.029 |
|
544 |
|
|
FSC002 |
Fascioliasis |
42 |
0.029 |
|
545 |
|
c
|
ATS307 |
Autosomal Recessive Cerebellar Ataxia |
42 |
0.029 |
|
546 |
|
|
ANC002 |
Anca-Associated Vasculitis |
41 |
0.029 |
|
547 |
|
c
|
MCR130 |
Microvascular Complications of Diabetes 6 |
41 |
0.029 |
|
548 |
|
c
|
MCR133 |
Microvascular Complications of Diabetes 4 |
41 |
0.029 |
|
549 |
|
|
KLB003 |
Klebsiella Pneumonia |
41 |
0.029 |
|
550 |
|
|
SCR001 |
Secretory Meningioma |
41 |
0.029 |
|
551 |
|
P
|
FNC034 |
Fanconi Renotubular Syndrome 2 |
40 |
0.029 |
|
552 |
|
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
40 |
0.029 |
|
|
554 |
|
|
LKP003 |
Leukoplakia |
39 |
0.029 |
|
555 |
|
|
FLL031 |
Follicular Adenoma |
39 |
0.029 |
|
556 |
|
|
CTN004 |
Cutaneous Fibrous Histiocytoma |
39 |
0.029 |
|
557 |
|
|
CRV045 |
Cervical Intraepithelial Neoplasia |
39 |
0.029 |
|
558 |
|
|
ENT001 |
Enterocele |
39 |
0.029 |
|
559 |
|
|
ORL012 |
Oral Leukoplakia |
39 |
0.029 |
|
560 |
|
|
TNP004 |
Tn Polyagglutination Syndrome |
39 |
0.029 |
|
561 |
|
|
ADP007 |
Adie Pupil |
39 |
0.029 |
|
562 |
|
|
SCH060 |
Schistosoma Mansoni Infection, Susceptibility/ |
39 |
0.029 |
|
|
564 |
|
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
38 |
0.029 |
|
565 |
|
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
38 |
0.029 |
|
566 |
|
|
CHL073 |
Cholestasis-Lymphedema Syndrome |
38 |
0.029 |
|
567 |
|
|
HPT070 |
Hepatosplenic T-Cell Lymphoma |
38 |
0.029 |
|
568 |
|
|
OST006 |
Osteoblastoma |
38 |
0.029 |
|
569 |
|
|
GLB021 |
Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies |
38 |
0.029 |
|
570 |
|
|
CRT055 |
Creatine Deficiency Syndromes |
38 |
0.029 |
|
571 |
|
|
CRB009 |
Cerebritis |
37 |
0.029 |
|
572 |
|
|
DDN027 |
Duodenum Disease |
37 |
0.029 |
|
573 |
|
|
MLT028 |
Multiminicore Disease |
37 |
0.029 |
|
574 |
|
|
HMM004 |
Hamamy Syndrome |
37 |
0.029 |
|
575 |
|
P
|
AXN001 |
Axonal Neuropathy |
36 |
0.029 |
|
576 |
|
|
LYM002 |
Lymphoplasmacyte-Rich Meningioma |
36 |
0.029 |
|
577 |
|
|
HYP114 |
Hypertensive Nephropathy |
36 |
0.029 |
|
578 |
|
c
|
FML053 |
Familial Colorectal Cancer |
35 |
0.029 |
|
579 |
|
|
ATX010 |
Ataxia Neuropathy Spectrum |
34 |
0.029 |
|
580 |
|
|
HYP351 |
Hypertrichosis Universalis Congenita, Ambras Type |
34 |
0.029 |
|
581 |
|
|
BRN041 |
Bornholm Eye Disease |
34 |
0.029 |
|
582 |
|
|
MDM001 |
Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency |
33 |
0.029 |
|
583 |
|
|
ALR002 |
Al-Raqad Syndrome |
33 |
0.029 |
|
584 |
|
|
PRS064 |
Persistent Vegetative State |
33 |
0.029 |
|
585 |
|
|
ACT064 |
Acute Necrotizing Encephalitis |
33 |
0.029 |
|
586 |
|
c
|
PRS136 |
Prostate Cancer, Hereditary, 6 |
33 |
0.029 |
|
587 |
|
|
MCR119 |
Microtia, Hearing Impairment, and Cleft Palate |
33 |
0.029 |
|
588 |
|
|
BWN006 |
Bowen's Disease |
32 |
0.029 |
|
589 |
|
c
|
PRS130 |
Prostate Cancer, Hereditary, 8 |
32 |
0.029 |
|
590 |
|
|
TQP001 |
Taqi Polymorphism |
32 |
0.029 |
|
591 |
|
|
TRG019 |
Trigonocephaly with Short Stature and Developmental Delay |
32 |
0.029 |
|
592 |
|
|
PST103 |
Postpartum Psychosis |
32 |
0.029 |
|
593 |
|
|
GLY033 |
Glycogen Storage Disease of Heart, Lethal Congenital |
32 |
0.029 |
|
594 |
|
c
|
DNT047 |
Dentinogenesis Imperfecta Type 2 |
31 |
0.029 |
|
595 |
|
|
PLR005 |
Pleuropneumonia |
31 |
0.029 |
|
596 |
|
|
5XP001 |
5-Oxoprolinase Deficiency |
31 |
0.029 |
|
597 |
|
|
CLF051 |
Cleft Larynx, Posterior |
30 |
0.029 |
|
598 |
|
|
PYR016 |
Pyridoxine Deficiency |
30 |
0.029 |
|
599 |
|
|
TRN004 |
Trench Fever |
29 |
0.029 |
|
600 |
|
|
MYC088 |
Mycobacterium Avium Complex Infections |
29 |
0.029 |
|
601 |
|
|
FTL007 |
Fetal Hydantoin Syndrome |
29 |
0.029 |
|
602 |
|
|
ISL099 |
Isolated Methylmalonic Acidemia |
29 |
0.029 |
|
603 |
|
|
PST092 |
Posttransplant Acute Limbic Encephalitis |
29 |
0.029 |
|
604 |
|
|
BPH002 |
Biphasic Synovial Sarcoma |
29 |
0.029 |
|
605 |
|
|
DFF012 |
Differentiating Neuroblastoma |
28 |
0.029 |
|
606 |
|
|
HNM002 |
Hinman Syndrome |
27 |
0.029 |
|
607 |
|
|
LRY026 |
Laryngeal Cleft |
27 |
0.029 |
|
608 |
|
|
PYR035 |
Pyrimidine Metabolic Disorder |
26 |
0.029 |
|
609 |
|
|
PSD078 |
Pseudofolliculitis Barbae |
25 |
0.029 |
|
610 |
|
|
HRP008 |
Herpes Simiae |
25 |
0.029 |
|
611 |
|
|
BRS045 |
Breast Adenoma |
25 |
0.029 |
|
612 |
|
c
|
DMN005 |
Diamond-Blackfan Anemia 2 |
25 |
0.029 |
|
613 |
|
c
|
RNG021 |
Ring Chromosome 5 |
23 |
0.029 |
|
614 |
|
P
|
HRM021 |
Hair Morphology 2 |
22 |
0.029 |
|
615 |
|
|
BLD165 |
Blood Group, Colton System |
20 |
0.029 |
|
616 |
|
P
|
CMP101 |
Complex Hereditary Spastic Paraplegia |
20 |
0.029 |
|
617 |
|
|
CBP002 |
Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome |
20 |
0.029 |
|
618 |
|
|
AND005 |
Androgen Insensitivity Syndrome, Mild |
19 |
0.029 |
|
619 |
|
|
XLN215 |
X-Linked Congenital Generalized Hypertrichosis |
17 |
0.029 |
|
620 |
|
|
BLD137 |
Blood Group--Ahonen |
16 |
0.029 |
|
621 |
|
|
ANT040 |
Anton's Syndrome |
16 |
0.029 |
|
622 |
|
|
DMN042 |
Diaminopentanuria |
14 |
0.029 |
|
623 |
|
|
SRN003 |
Seronegative Autoimmune Hepatitis |
12 |
0.029 |
|
624 |
|
|
CTR030 |
Citrulline Transport Defect |
9 |
0.029 |
|
625 |
|
P
|
PRR040 |
Pure or Complex Hereditary Spastic Paraplegia |
9 |
0.029 |
|