From: EHR based Genetic Testing Knowledge Base (iGTKB) Development
Test id | Clinical Features | #Pat_A | #Pat_T | #Pat_N | #Pat_P | Freq_A | Freq_T | FreqN | FreqP |
---|---|---|---|---|---|---|---|---|---|
9497 | Malabsorption | 1036 | 3 | 1 | 2 | 0.00749 | 0.01364 | 0.00495 | 0.11111 |
9497 | Emphysema | 1058 | 2 | 1 | 1 | 0.00765 | 0.00909 | 0.00495 | 0.05556 |
9497 | Chronic bronchitis | 920 | 3 | 2 | 1 | 0.00666 | 0.01364 | 0.00990 | 0.05556 |
9497 | Bronchiectasis | 350 | 40 | 36 | 4 | 0.00253 | 0.18182 | 0.17822 | 0.22222 |
9497 | Anemia | 10832 | 23 | 21 | 2 | 0.07836 | 0.10455 | 0.10396 | 0.11111 |
9497 | Diarrhea | 26264 | 29 | 27 | 2 | 0.19000 | 0.13182 | 0.13366 | 0.11111 |
9497 | Asthma | 29676 | 50 | 47 | 3 | 0.21469 | 0.22727 | 0.23267 | 0.16667 |
9569 | Tremor at rest | 3093 | 8 | 6 | 2 | 0.02238 | 0.04762 | 0.03774 | 0.22222 |
9569 | Joint hypermobility | 48 | 4 | 3 | 1 | 0.00035 | 0.02381 | 0.01887 | 0.11111 |
9569 | Moderate mental retardation | 500 | 4 | 3 | 1 | 0.00362 | 0.02381 | 0.01887 | 0.11111 |
9569 | Otitis media | 11064 | 8 | 7 | 1 | 0.08004 | 0.04762 | 0.04403 | 0.11111 |
9569 | Intellectual disability, moderate | 28 | 11 | 10 | 1 | 0.00020 | 0.06548 | 0.06289 | 0.11111 |
9569 | Depression | 42371 | 35 | 33 | 2 | 0.30653 | 0.20833 | 0.20755 | 0.22222 |
9569 | Seizure | 14498 | 47 | 46 | 1 | 0.10488 | 0.27976 | 0.28931 | 0.11111 |
9569 | Seizures | 14498 | 47 | 46 | 1 | 0.10488 | 0.27976 | 0.28931 | 0.11111 |
9569 | Anxiety | 36674 | 47 | 46 | 1 | 0.26531 | 0.27976 | 0.28931 | 0.11111 |
81508 | Telangiectasia | 1340 | 7 | 1 | 6 | 0.00969 | 0.01639 | 0.00417 | 0.03209 |
81508 | Autosomal dominant | 216 | 6 | 2 | 4 | 0.00156 | 0.01405 | 0.00833 | 0.02139 |
81508 | Autosomal dominant inheritance | 216 | 6 | 2 | 4 | 0.00156 | 0.01405 | 0.00833 | 0.02139 |
81508 | Skin hyperpigmentation | 25 | 3 | 1 | 2 | 0.00018 | 0.00703 | 0.00417 | 0.01070 |
81508 | Hepatic fibrosis | 113 | 3 | 1 | 2 | 0.00082 | 0.00703 | 0.00417 | 0.01070 |
81508 | Hypogonadotrophic hypogonadism | 767 | 3 | 1 | 2 | 0.00555 | 0.00703 | 0.00417 | 0.01070 |
81508 | Hypogonadism, hypogonadotropic | 733 | 3 | 1 | 2 | 0.00530 | 0.00703 | 0.00417 | 0.01070 |
81508 | Generalized hyperpigmentation | 651 | 10 | 4 | 6 | 0.00471 | 0.02342 | 0.01667 | 0.03209 |
81508 | Abnormal bleeding | 2396 | 15 | 6 | 9 | 0.01733 | 0.03513 | 0.02500 | 0.04813 |
81508 | Bleeding tendency | 9682 | 11 | 5 | 6 | 0.07004 | 0.02576 | 0.02083 | 0.03209 |
81508 | Heart failure | 3009 | 20 | 10 | 10 | 0.02177 | 0.04684 | 0.04167 | 0.05348 |
81508 | Enlarged liver | 25 | 2 | 1 | 1 | 0.00018 | 0.00468 | 0.00417 | 0.00535 |
81508 | Osteoporosis | 23640 | 67 | 34 | 33 | 0.17102 | 0.15691 | 0.14167 | 0.17647 |
81508 | Generalized osteoporosis | 23640 | 67 | 34 | 33 | 0.17102 | 0.15691 | 0.14167 | 0.17647 |
81508 | Arrhythmia | 2362 | 15 | 8 | 7 | 0.01709 | 0.03513 | 0.03333 | 0.03743 |
81508 | Erectile dysfunction | 4418 | 21 | 12 | 9 | 0.03196 | 0.04918 | 0.05000 | 0.04813 |
81508 | Abdominal pain | 37984 | 96 | 57 | 39 | 0.27479 | 0.22482 | 0.23750 | 0.20856 |
81508 | Alopecia | 1243 | 5 | 3 | 2 | 0.00899 | 0.01171 | 0.01250 | 0.01070 |
81508 | Arthralgia | 17292 | 53 | 32 | 21 | 0.12510 | 0.12412 | 0.13333 | 0.11230 |
81508 | Joint pain | 16232 | 48 | 29 | 19 | 0.11743 | 0.11241 | 0.12083 | 0.10160 |
81508 | Cardiomyopathy | 1220 | 13 | 8 | 5 | 0.00883 | 0.03044 | 0.03333 | 0.02674 |
81508 | Hepatic cirrhosis | 62 | 13 | 8 | 5 | 0.00045 | 0.03044 | 0.03333 | 0.02674 |
81508 | Cirrhosis | 415 | 173 | 108 | 65 | 0.00300 | 0.40515 | 0.45000 | 0.34759 |
81508 | Hepatomegaly | 244 | 24 | 15 | 9 | 0.00177 | 0.05621 | 0.06250 | 0.04813 |
81508 | Cardiomegaly | 1751 | 11 | 7 | 4 | 0.01267 | 0.02576 | 0.02917 | 0.02139 |
81508 | Diabetes mellitus | 9692 | 64 | 41 | 23 | 0.07012 | 0.14988 | 0.17083 | 0.12299 |
81508 | Congestive heart failure | 2562 | 14 | 9 | 5 | 0.01853 | 0.03279 | 0.03750 | 0.02674 |
81508 | Hepatocellular carcinoma | 85 | 52 | 34 | 18 | 0.00061 | 0.12178 | 0.14167 | 0.09626 |
81508 | Ascites | 327 | 141 | 94 | 47 | 0.00237 | 0.33021 | 0.39167 | 0.25134 |
81508 | Cholestasis | 113 | 9 | 6 | 3 | 0.00082 | 0.02108 | 0.02500 | 0.01604 |
81508 | Hepatic failure | 21 | 9 | 6 | 3 | 0.00015 | 0.02108 | 0.02500 | 0.01604 |
81508 | Hypoglycaemia | 4500 | 32 | 23 | 9 | 0.03255 | 0.07494 | 0.09583 | 0.04813 |
81508 | Hypoglycemia | 4500 | 32 | 23 | 9 | 0.03255 | 0.07494 | 0.09583 | 0.04813 |
81508 | Liver failure | 244 | 41 | 30 | 11 | 0.00177 | 0.09602 | 0.12500 | 0.05882 |
81508 | Splenomegaly | 307 | 46 | 36 | 10 | 0.00222 | 0.10773 | 0.15000 | 0.05348 |
81508 | Rapidly progressive | 2167 | 7 | 6 | 1 | 0.01568 | 0.01639 | 0.02500 | 0.00535 |
81508 | Rapid progression | 2128 | 7 | 6 | 1 | 0.01539 | 0.01639 | 0.02500 | 0.00535 |
81508 | Pleural effusion | 510 | 10 | 9 | 1 | 0.00369 | 0.02342 | 0.03750 | 0.00535 |
82993 | Emphysema | 1058 | 16 | 12 | 4 | 0.00765 | 0.03113 | 0.02586 | 0.05714 |
82993 | Hepatic failure | 21 | 7 | 6 | 1 | 0.00015 | 0.01362 | 0.01293 | 0.01429 |
82993 | Cirrhosis | 415 | 160 | 142 | 18 | 0.00300 | 0.31128 | 0.30603 | 0.25714 |
82993 | Chronic obstructive pulmonary disease | 2048 | 18 | 16 | 2 | 0.01482 | 0.03502 | 0.03448 | 0.02857 |
82993 | Hepatocellular carcinoma | 85 | 53 | 48 | 5 | 0.00061 | 0.10311 | 0.10345 | 0.07143 |
82993 | Hepatomegaly | 235 | 24 | 22 | 2 | 0.00170 | 0.04669 | 0.04741 | 0.02857 |