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Table 5 Statistical numbers for clinical features identified from patients' clinical notes

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
  1. # Pat_A: number of patients in group A have the clinical feature accordingly; # Pat_T: number of patients in group T have the clinical feature accordingly; # Pat_P: number of patients in group P have the clinical feature accordingly; # Pat_N: number of patients in group N have the clinical feature accordingly; Freq_A: frequency of the clinical feature occurring in group A; Freq_T: frequency of the clinical feature occurring in group T; Freq_P: frequency of the clinical feature occurring in group p; Freq_N: frequency of the clinical feature occurring in group N.