Table S4. Disease prevalence ICD-9- Disease CM Prevalence code 17,20-lyase deficiency, isolated, 202110 (3) 282.3 4.44819E-06 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, 277.85 0.00000E+00 300438 (3) 2-methylbutyrylglycinuria, 610006 (3) 277.85 0.00000E+00 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3) 277.85 0.00000E+00 3-beta-hydroxysteroid dehydrogenase, type II, deficiency (3) 255.2 1.46483E-05 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) 277.85 0.00000E+00 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) 0.00000E+00 3-methylglutaconic aciduria, type I, 250950 (3) 277.86 0.00000E+00 AGAT deficiency (3) 282.3 4.44819E-06 AICA-ribosiduria due to ATIC deficiency, 608688 (3) 277.6 4.33315E-05 AMP deaminase deficiency, erythrocytic (3) 279.2 1.09671E-05 Abruptio placentae, susceptibility to (3) 0.00000E+00 Acatalasemia (3) 277.89 0.00000E+00 Achondrogenesis Ib, 600972 (3) 733 4.58035E-02 Acquired long QT syndrome, reduced susceptibility to, 426.82 0.00000E+00 152427 (3) Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3) 759.2 7.67696E-05 Acyl-CoA dehydrogenase, long chain, deficiency of, 201460 277.85 0.00000E+00 (3) Adenosine deaminase deficiency, partial, 102700 (3) 277.2 1.76394E-06 Adenylosuccinase deficiency, 103050 (3) 277.2 1.76394E-06 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase 255.2 1.46483E-05 deficiency, 202010 (3) Adrenal insufficiency, congenital with or without 46, XY sex 0.00000E+00 reversal (3) Adult i phenotype with congenital cataract, 110800 (3) 270.3 2.30079E-06 Agammaglobulinemia, 601495 (3) 279 6.21519E-04 Agenesis of the corpus callosum with peripheral neuropathy, 742.2 1.07370E-05 218000 (3) Albinism, brown oculocutaneous, (3) 270.2 1.48784E-05 Alcohol intolerance, acute (3) 291.4 5.44520E-06 Alcoholism, susceptibility to, 103780 (3) 303.9 1.20281E-02 Aldolase A deficiency (3) 264.8 1.53386E-06 Aldosterone to renin ratio raised (3) 255.13 0.00000E+00 1 Aldosteronism, glucocorticoid-remediable, 103900 (3) 255.1 1.50778E-04 Alexander disease, 203450 (3) 781.99 0.00000E+00 Alkaptonuria, 203500 (3) 270.2 1.48784E-05 Allan-Herndon-Dudley syndrome, 300523 (3) 319 1.07201E-03 Alpers syndrome, 203700 (3) 330.8 1.22709E-06 Alpha-methylacetoacetic aciduria, 203750 (3) 277.6 4.33315E-05 Alpha-methylacyl-CoA racemase deficiency (3) 277.6 4.33315E-05 Alternating hemiplegia of childhood, 104290 (3) 342.8 4.60157E-07 Alzheimer disease 9, late onset, susceptibility to, 104300 (3) 331 2.54364E-02 Aminoacylase 1 deficiency, 609924 (3) 0.00000E+00 Amish infantile epilepsy syndrome, 609056 (3) 345.8 1.31145E-04 Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) 335.2 7.99217E-04 Anemia, Diamond-Blackfan, 105650 (3) 285.9 8.40329E-02 Anxiety-related personality traits, 607834 (3) 300 2.89976E-02 Apparent mineralocorticoid excess, hypertension due to (3) 405.99 1.26390E-04 Argininemia, 207800 (3) 270.6 6.93304E-05 Aromatase deficiency (3) 277.6 4.33315E-05 Aromatic L-amino acid decarboxylase deficiency, 608643 (3) 277.6 4.33315E-05 Arterial calcification, generalized, of infancy, 208000 (3) 0.00000E+00 Arterial tortuosity syndrome, 208050 (3) 0.00000E+00 Aspartylglucosaminuria (3) 271 2.78150E-03 Asthma, 600807 (3) 493.9 2.21119E-02 Atelosteogenesis II, 256050 (3) 756.58 0.00000E+00 Atherosclerosis, susceptibility to (3) 440.9 2.04259E-02 Atopy, 147050 (3) 995.3 3.12447E-04 Autism, chromosome 22q13.3 deletion syndrome-related (3) 299 2.48485E-05 Bannayan-Riley-Ruvalcaba syndrome, 153480 (3) 756 1.54743E-03 Bartter syndrome, type 1, 601678 (3) 255.13 0.00000E+00 Basal ganglia disease, adult-onset, 606159 (3) 333.9 7.96686E-04 Beckwith-Wiedemann syndrome, 130650 (3) 759.89 3.02170E-05 Benzene toxicity, susceptibility to (3) 982 1.92499E-05 Beta-ureidopropionase deficiency (3) 0.00000E+00 Bile acid malabsorption, primary (3) 579.9 3.03244E-04 Biotinidase deficiency, 253260 (3) 277.6 4.33315E-05 Blood group Cromer (3) 0.00000E+00 Bombay phenotype (3) 0.00000E+00 Breast and colorectal cancer, susceptibility to (3) 239.3 1.18107E-04 Bruck syndrome 2, 609220 (3) 759.89 3.02170E-05 Brunner syndrome (3) 0.00000E+00 2 CHILD syndrome, 308050 (3) 0.00000E+00 COPD, rate of decline of lung function in, 606963 (3) 496 1.47127E-01 CPT II deficiency, lethal neonatal, 608836 (3) 277.85 0.00000E+00 Canavan disease, 271900 (3) 330 4.41751E-05 Carbamoylphosphate synthetase I deficiency, 237300 (3) 270.6 6.93304E-05 Carbohydrate-deficient glycoprotein syndrome, type I, 271.8 1.05069E-05 212065 (3) Carcinoid tumors, intestinal, 114900 (3) 235.2 1.83112E-03 Carnitine deficiency, systemic primary, 212140 (3) 277.81 0.00000E+00 Carnitine-acylcarnitine translocase deficiency (3) 277.85 0.00000E+00 Cerebellar ataxia, 604290 (3) 334.3 3.87069E-04 Cerebral infarction, susceptibility to, 601367 (3) 434.91 3.42273E-03 Cerebral palsy, spastic, symmetric, autosomal recessive, 0.00000E+00 603513 (3) Cerebrotendinous xanthomatosis, 213700 (3) 272.2 1.30079E-03 Ceroid lipofuscinosis, neuronal 8, 600143 (3) 330.1 8.28283E-06 Ceroid lipofuscinosis, neuronal-1, infantile, 256730 (3) 330.1 8.28283E-06 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3) 356.1 1.53463E-04 Chitotriosidase deficiency (3) 0.00000E+00 Chloride diarrhea, congenital, Finnish type, 214700 (3) 787.91 0.00000E+00 Cholestasis, benign recurrent intrahepatic, 243300 (3) 576.8 2.04318E-03 Cholesteryl ester storage disease (3) 272.7 4.83165E-05 Chondrodysplasia punctata, X-linked dominant, 302960 (3) 756.59 1.54153E-05 Chondrosarcoma, 215300 (3) 170.9 5.54490E-05 Chromosome 16p13.3 deletion syndrome (3) 758.39 0.00000E+00 Citrullinemia, 215700 (3) 270.6 6.93304E-05 Cleft lip with or without cleft palate, with gastric cancer, 749 2.91433E-05 familial diffuse (3) Codeine sensitivity (3) E850.2 0.00000E+00 Coenzyme Q10 deficiency, 607426 (3) 0.00000E+00 Cold-induced sweating syndrome 1, 610313 (3) 238 3.84952E-03 Colon adenocarcinoma (3) 153 1.66505E-02 Combined hyperlipidemia, familial, 144250 (3) 272.2 1.30079E-03 Combined oxidative phosphorylation deficiency 1, 609060 0.00000E+00 (3) Complex I, mitochondrial respiratory chain, deficiency of, 277.87 0.00000E+00 252010 (3) Cone dystrophy-1, 304020 (3) 362.75 1.38047E-06 Congenital disorder of glycosylation, type IIc, 266265 (3) 271.8 1.05069E-05 Cornea plana congenita, recessive, 217300 (3) 371.5 3.27325E-04 3 Coronary artery disease in familial hypercholesterolemia, 414 2.46394E-01 protection against, 143890 (3) Coronary spasms, susceptibility to (3) 414.9 5.13918E-02 Cortisone reductase deficiency, 604931 (3) 255.2 1.46483E-05 Coumarin resistance, 122700 (3) 0.00000E+00 Cowden disease, 158350 (3) 759.6 1.14886E-04 Creatine deficiency syndrome, X-linked, 300352 (3) 319 1.07201E-03 Crigler-Najjar syndrome, type I, 218800 (3) 277.4 2.69882E-04 Crohn disease, ileal, protection against, 266600 (3) 555.9 1.16796E-03 Cystathioninuria, 219500 (3) 270.4 1.76394E-06 Cystinuria, 220100 (3) 270 1.56070E-04 D-bifunctional protein deficiency, 261515 (3) 277.86 0.00000E+00 Deafness, X-linked 1, progressive (3) 389.9 4.23659E-03 Debrisoquine sensitivity (3) 995.27 0.00000E+00 Delayed sleep phase syndrome, susceptibility to (3) 307.4 1.12509E-04 Dent disease, 300009 (3) 592 1.27924E-02 Desmosterolosis, 602398 (3) 0.00000E+00 Diabetes mellitus, gestational, 125851 (3) 250 1.67048E-01 Diastrophic dysplasia, 222600 (3) 0.00000E+00 Dihydropyrimidinuria (3) 277.2 1.76394E-06 Dimethylglycine dehydrogenase deficiency, 605850 (3) 0.00000E+00 Dopamine beta-hydroxylase deficiency, 223360 (3) 0.00000E+00 Down syndrome, susceptibility to, 190685 (3) 758 7.79200E-05 Dystonia, DOPA-responsive, 128230 (3) 333.6 5.94370E-05 Ehlers-Danlos due to tenascin X deficiency, 606408 (3) 756.83 8.97307E-06 Elliptocytosis, Malaysian-Melanesian type (3) 282.1 1.74093E-05 Emphysema (3) 492.8 2.73722E-02 Endometrial carcinoma (3) 182 4.25139E-03 Enlarged vestibular aqueduct, 603545 (3) 742.3 3.81931E-05 Enolase-beta deficiency (3) 729.1 1.92752E-03 Eosinophil peroxidase deficiency, 261500 (3) 0.00000E+00 Epilepsy with grand mal seizures on awakening, 607628 (3) 345.9 4.18475E-03 Epiphyseal dysplasia, multiple 1, 132400 (3) 756.56 6.90236E-07 Episodic ataxia, type 2, 108500 (3) 781.3 4.14234E-03 Erythrocyte lactate transporter defect, 245340 (3) 0.00000E+00 Exertional myoglobinuria due to deficiency of LDH-A (3) 791.3 9.08811E-05 Exostoses, multiple, type 1, 133700 (3) 726.91 6.40616E-04 Fabry disease, 301500 (3) 272.7 4.83165E-05 Fanconi-Bickel syndrome, 227810 (3) 0.00000E+00 4 Farber lipogranulomatosis (3) 272.8 1.70258E-04 Fatty liver, acute, of pregnancy (3) 571.8 1.01856E-03 Favism (3) 282.2 2.80696E-05 Fish-eye disease, 136120 (3) 371.5 3.27325E-04 Fluorouracil toxicity, sensitivity to (3) 0.00000E+00 Fructose intolerance (3) 271.2 6.82567E-06 Fructose-bisphosphatase deficiency (3) 271.2 6.82567E-06 Fructosuria (3) 271.2 6.82567E-06 Fucosidosis (3) 271.8 1.05069E-05 Fucosyltransferase-6 deficiency (3) 0.00000E+00 Fumarase deficiency, 606812 (3) 0.00000E+00 Fundus albipunctatus, 136880 (3) 362.76 1.22709E-06 G6PD deficiency (3) 277.6 4.33315E-05 GABA-transaminase deficiency (3) 0.00000E+00 GAMT deficiency (3) 0.00000E+00 GM1-gangliosidosis (3) 348.9 3.74491E-04 Galactokinase deficiency with cataracts, 230200 (3) 271.1 4.37150E-06 Galactose epimerase deficiency, 230350 (3) 271.1 4.37150E-06 Galactosemia, 230400 (3) 271.1 4.37150E-06 Galactosialidosis (3) 271 2.78150E-03 Gallbladder disease 1, 600803 (3) 574.2 1.63182E-02 Gaucher disease, atypical, 610539 (3) 272.7 4.83165E-05 Gilbert syndrome, 143500 (3) 277.4 2.69882E-04