sign in sign up
<<
Home , Aceruloplasminemia, Adenosine deaminase, Aldolase A deficiency, AMP deaminase, Biotinidase, Brunner syndrome

Table S4. Disease prevalence

ICD-9- Disease CM Prevalence code 17,20- 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 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 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) 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) , congenital with or without 46, XY sex 0.00000E+00 reversal (3) Adult i phenotype with congenital , 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) , 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 deficiency (3) 264.8 1.53386E-06 to renin ratio raised (3) 255.13 0.00000E+00

1

Aldosteronism, -remediable, 103900 (3) 255.1 1.50778E-04 Alexander disease, 203450 (3) 781.99 0.00000E+00 , 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 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 , Diamond-Blackfan, 105650 (3) 285.9 8.40329E-02 Anxiety-related personality traits, 607834 (3) 300 2.89976E-02 Apparent excess, due to (3) 405.99 1.26390E-04 , 207800 (3) 270.6 6.93304E-05 (3) 277.6 4.33315E-05 Aromatic L- decarboxylase deficiency, 608643 (3) 277.6 4.33315E-05 Arterial , generalized, of infancy, 208000 (3) 0.00000E+00 Arterial tortuosity syndrome, 208050 (3) 0.00000E+00 (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 , 22q13.3 deletion syndrome-related (3) 299 2.48485E-05 Bannayan-Riley-Ruvalcaba syndrome, 153480 (3) 756 1.54743E-03 , 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 deficiency, 253260 (3) 277.6 4.33315E-05 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 (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 -deficient 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 deficiency (3) 277.85 0.00000E+00 Cerebellar , 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 , 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 , 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 , 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 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 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 , 219500 (3) 270.4 1.76394E-06 , 220100 (3) 270 1.56070E-04 D-bifunctional 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 , 602398 (3) 0.00000E+00 mellitus, gestational, 125851 (3) 250 1.67048E-01 , 222600 (3) 0.00000E+00 Dihydropyrimidinuria (3) 277.2 1.76394E-06 Dimethylglycine dehydrogenase deficiency, 605850 (3) 0.00000E+00 beta-hydroxylase deficiency, 223360 (3) 0.00000E+00 Down syndrome, susceptibility to, 190685 (3) 758 7.79200E-05 , 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 on awakening, 607628 (3) 345.9 4.18475E-03 Epiphyseal dysplasia, multiple 1, 132400 (3) 756.56 6.90236E-07 , 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 , 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 , 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 toxicity, sensitivity to (3) 0.00000E+00 intolerance (3) 271.2 6.82567E-06 Fructose-bisphosphatase deficiency (3) 271.2 6.82567E-06 Fructosuria (3) 271.2 6.82567E-06 (3) 271.8 1.05069E-05 Fucosyltransferase-6 deficiency (3) 0.00000E+00 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 with , 230200 (3) 271.1 4.37150E-06 epimerase deficiency, 230350 (3) 271.1 4.37150E-06 , 230400 (3) 271.1 4.37150E-06 (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 , 263800 (3) 276.8 1.13794E-01 Glaucoma 1, open angle, E, 137760 (3) 365.9 1.51656E-02 transport defect, blood-brain barrier, 606777 (3) 0.00000E+00 Glucose/galactose malabsorption, 606824 (3) 271.3 2.72045E-03 Glucosidase I deficiency, 606056 (3) 271.8 1.05069E-05 Glutamate formiminotransferase deficiency, 229100 (3) 0.00000E+00 deficiency, congenital, 610015 (3) 0.00000E+00 Glutaric aciduria, type I, 231670 (3) 0.00000E+00 Glutaricaciduria, type I, 231670 (3) 0.00000E+00 Glutathione synthetase deficiency, 266130 (3) 276.2 1.09352E-02 Glycerol kinase deficiency, 307030 (3) 759.1 3.98803E-06 N-methyltransferase deficiency, 606664 (3) 270.7 3.69660E-05 storage disease I (3) 271 2.78150E-03 Glycosylphosphatidylinositol deficiency, 610293 (3) 0.00000E+00 Goiter, congenital (3) 240.9 1.45563E-03

5

Gyrate atrophy of choroid and retina with ornithinemia, B6 0.00000E+00 responsive or unresponsive (3) HARP syndrome, 607236 (3) 272.4 1.84410E-02 HDL deficiency, familial, 604091 (3) 272.9 6.22900E-04 HELLP syndrome, maternal, of pregnancy (3) 642.5 0.00000E+00 HMG-CoA lyase deficiency (3) 791.9 1.40962E-04 HPRT-related gout, 300323 (3) 274.89 6.94071E-05 , 140350 (3) 0.00000E+00 Heme oxygenase-1 deficiency (3) 0.00000E+00 due to G6PD deficiency (3) 283.9 5.57941E-04 Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh (3) 287.9 1.37664E-04 , systemic, due to , 604290 275 1.13295E-02 (3) Hepatic lipase deficiency (3) 272.9 6.22900E-04 Hex A pseudodeficiency, 272800 (3) 0.00000E+00 , 235800 (3) 270.5 1.30378E-06 Holocarboxylase synthetase deficiency, 253270 (3) 266.2 3.20615E-03 , total plasma, elevated (3) 270.4 1.76394E-06 due to MTHFR deficiency, 236250 (3) 270.4 1.76394E-06 Homozygous 2p16 deletion syndrome, 606407 (3) 270 1.56070E-04 Hyper-IgD syndrome, 260920 (3) 277.31 0.00000E+00 with hypoornithinemia, hypocitrullinemia, 270.6 6.93304E-05 hypoargininemia, and hypoprolinemia (3) , nonclassic type, due to 21-hydroxylase 255.2 1.46483E-05 deficiency (3) Hyperbilirubinemia, familial transcient neonatal, 237900 (3) 782.4 1.52274E-03 Hypercalciuria, absorptive, susceptibility to, 143870 (3) 275.4 6.71569E-03 Hypercholanemia, familial, 607748 (3) 0.00000E+00 Hypercholesterolemia, due to ligand-defective apo B, 272 5.41486E-02 144010 (3) Hyperekplexia and epilepsy, 300607 (3) 759.89 3.02170E-05 Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3) 251.1 8.01441E-05 Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3) 0.00000E+00 Hyperinsulinism-hyperammonemia syndrome, 606762 (3) 251.2 7.06150E-03 , 238700 (3) 270.7 3.69660E-05 with deficiency of S- 270.4 1.76394E-06 adenosylhomocysteine hydrolase (3) Hyperornithinemia-hyperammonemia-homocitrullinemia 270.6 6.93304E-05 syndrome, 238970 (3) Hyperostosis- syndrome, 610233 (3) 0.00000E+00 6

Hyperoxaluria, primary, type 1, 259900 (3) 271.8 1.05069E-05 Hyperphenylalaninemia due to pterin-4a-carbinolamine 270.1 3.06772E-06 dehydratase deficiency, 264070 (3) , type I, 239500 (3) 270.8 5.29181E-06 Hypertension, diastolic, resistance to, 608622 (3) 401.9 3.36726E-01 Hyperthyroidism, congenital (3) 242.9 2.75473E-03 Hypoaldosteronism, congenital, due to CMO I deficiency, 255.4 1.45832E-03 203400 (3) Hypoceruloplasminemia, hereditary, 604290 (3) 0.00000E+00 Hypolactasia, adult type, 223100 (3) 0.00000E+00 Hypophosphatasia, childhood, 241510 (3) 275.3 1.49866E-03 Hypophosphatemic rickets with hypercalciuria, 241530 (3) 270 1.56070E-04 , autoimmune, 140300 (3) 244.9 5.14685E-02 Ichthyosiform erythroderma, congenital, 242100 (3) 757.1 3.96502E-05 Ichthyosis bullosa of Siemens, 146800 (3) 757.1 3.96502E-05 Immunodeficiency due to defect in CD3-epsilon (3) 279.3 1.27924E-04 Immunodeficiency-centromeric instability-facial anomalies 0.00000E+00 syndrome, 242860 (3) Inclusion body with early-onset Paget disease and 359.9 2.76631E-04 frontotemporal , 167320 (3) Infantile neuroaxonal dystrophy 1, 256600 (3) 345.6 1.07370E-06 triphosphatase deficiency (3) 0.00000E+00 anemia, susceptibility to (3) 285.9 8.40329E-02 , 243500 (3) 276.2 1.09352E-02 Kanzaki disease, 609242 (3) 0.00000E+00 Karak syndrome, 608395 (3) 0.00000E+00 Keratosis follicularis spinulosa decalvans, 308800 (3) 0.00000E+00 Krabbe disease, 245200 (3) 330 4.41751E-05 L-2-hydroxyglutaric aciduria, 236792 (3) 277.85 0.00000E+00 LCHAD deficiency (3) 277.85 0.00000E+00 Lactate dehydrogenase-B deficiency (3) 271.3 2.72045E-03 , 607330 (3) 0.00000E+00 Lead poisoning, susceptibility to (3) 984.9 7.13244E-06 Leber congenital amaurosis I, 204000 (3) 362.76 1.22709E-06 due to cytochrome c oxidase deficiency, 330.8 1.22709E-06 256000 (3) Leiomyomatosis and renal cancer, 605839 (3) 238.1 6.33483E-05 Lesch-Nyhan syndrome, 300322, (3) 277.2 1.76394E-06 Leukemia, Philadelphia chromosome-positive, resistant to 208.9 2.38362E-04 imatinib (3) 7

Leukoencephalopathy with brain stem and spinal cord 323.9 2.40202E-04 involvement and lactate elevation, 611105 (3) Lhermitte-Duclos syndrome (3) 348.8 6.03650E-04 Lipodystrophy, congenital generalized, type 1, 608594 (3) 272.6 2.12439E-05 Lipoid adrenal hyperplasia, 201710 (3) 255.8 2.37365E-04 Lipoprotein lipase deficiency, 238600 (3) 272.5 2.40279E-04 Lissencephaly syndrome, Norman-Roberts type, 257320 (3) 742.2 1.07370E-05 Low renin hypertension, susceptibility to (3) 401.9 3.36726E-01 Lowe syndrome, 309000 (3) 270.8 5.29181E-06 Lung cancer, 211980 (3) 162.9 6.85305E-03 Lysinuric protein intolerance, 222700 (3) 270.7 3.69660E-05 MODY, one form, 125850 (3) 648.8 0.00000E+00 Macular corneal dystrophy, 217800 (3) 362.7 1.29688E-04 Malaria, cerebral, reduced risk of, 611162 (3) 84.6 8.81968E-06 Malonyl-CoA decarboxylase deficiency, 248360 (3) 277.9 8.46690E-05 , alpha-, types I and II, 248500 (3) 271.8 1.05069E-05 Maple syrup urine disease, type II, 248600 (3) 270.3 2.30079E-06 Maroteaux-Lamy syndrome, several forms (3) 277.5 2.45417E-06 Maturity-onset diabetes of the young, type VIII, 609812 (3) 0.00000E+00 McArdle disease, 232600 (3) 271 2.78150E-03 Meningioma, 607174 (3) 237.6 4.21811E-05 Mental retardation syndrome, X-linked, Cabezas type, 319 1.07201E-03 300354 (3) Mephenytoin poor metabolizer (3) E936.1 0.00000E+00 Merkel cell carcinoma, somatic (3) 173.9 1.27464E-04 Metachromatic leukodystrophy due to deficiency of SAP-1, 330 4.41751E-05 249900 (3) Methemoglobinemia due to (3) 289.7 1.22709E-05 adenosyltransferase deficiency, autosomal 0.00000E+00 recessive (3) Methylcobalamin deficiency, cblG type, 250940 (3) 0.00000E+00 Methylmalonate semialdehyde dehydrogenase deficiency 0.00000E+00 (3) Methylmalonic aciduria and homocystinuria, cblC type, 0.00000E+00 277400 (3) Mevalonicaciduria (3) 0.00000E+00 Micochondrial carrier deficiency, 610773 (3) 0.00000E+00 Microcephaly, Amish type, 607196 (3) 742.1 3.52787E-06 Microphthalmia, isolated 2, 610093 (3) 743.1 2.45417E-06 Migraine without aura, susceptibility to, 157300 (3) 346.9 1.52205E-03

8

Mitochondrial DNA depletion myopathy, 251880 (3) 0.00000E+00 Mitochondrial DNA depletion syndrome, 251880 (3) 0.00000E+00 Mitochondrial complex I deficiency, 252010 (3) 0.00000E+00 Mitochondrial neurogastrointestinal encephalomyopathy 356.9 4.08620E-03 syndrome, 603041 (3) II (3) 277.5 2.45417E-06 Multiple cutaneous and uterine leiomyomata, 150800 (3) 218.9 3.10177E-03 Myasthenic syndrome (3) 728.87 0.00000E+00 Myelodysplasia syndrome-1 (3) 742.59 1.43186E-04 Myelogenous leukemia, acute (3) 205.9 5.82866E-05 Myeloperoxidase deficiency, 254600 (3) 0.00000E+00 Myoadenylate deaminase deficiency (3) 277.9 8.46690E-05 Myocardial infarcation, susceptibility to (3) 410.9 1.20998E-02 Myopathy due to CPT II deficiency, 255110 (3) 359.9 2.76631E-04 N-acetylglutamate synthase deficiency, 237310 (3) 0.00000E+00 -1, congenital, Finnish type, 256300 (3) 581.9 7.96839E-04 Neural tube defects, 182940 (3) 742.9 1.94033E-05 Neuroblastoma, 256700 (3) 194 1.28921E-04 Neurodegeneration with brain iron accumulation, 610217 (3) 0.00000E+00 Neurodegeneration, pantothenate kinase-associated, 331.9 3.67351E-03 234200 (3) Neuronopathy, distal hereditary motor, type VI, 604320 (3) 335.1 1.93266E-05 Neuropathy, congenital hypomyelinating, 1, 605253 (3) 355.9 6.33407E-04 Nevo syndrome, 601451 (3) 0.00000E+00 Nicotine addiction, protection from, 188890 (3) 304.6 4.23805E-04 Niemann-Pick disease, type A, 257200 (3) 272.2 1.30079E-03 Night blindness, congenital stationary (3) 368.6 2.14740E-06 Nonaka myopathy, 605820 (3) 359.9 2.76631E-04 Norum disease, 245900 (3) 271 2.78150E-03 Norwalk virus , resistance to (3) 0.00000E+00 phosphorylase deficiency, immunodeficiency 334.3 3.87069E-04 due to (3) Obesity, adrenal insufficiency, and red hair (3) 278 2.44021E-02 Obsessive-compulsive disorder 1, 164230 (3) 301.4 3.88450E-04 Odontohypophosphatasia, 146300 (3) 520.4 5.36850E-07 Oligodendroglioma, 137800 (3) 191.9 3.87453E-04 Opremazole poor metabolizer (3) 0.00000E+00 Ornithine transcarbamylase deficiency, 311250 (3) 282.3 4.44819E-06 Oroticaciduria (3) 281.4 2.99102E-05

9

Orthostatic intolerance, 604715 (3) 333 4.67896E-03 Ossification of posterior longitudinal ligament of spine, 602475 728.1 9.26450E-05 (3) Osteopetrosis, AD type I, 607634 (3) 756.52 1.99402E-05 Osteoporosis (3) 733 4.58035E-02 Ovarian cancer (3) 183 2.32395E-03 Panic disorder, susceptibility to, 167870 (3) 0.00000E+00 Paraganglioma, familial chromaffin, 4, 115310 (3) 237.3 4.70894E-05 Parkinson disease 13, 610297 (3) 332 1.74951E-02 Paroxysmal nocturnal hemoglobinuria (3) 786.09 8.31965E-03 , 274600 (3) 243 1.34213E-05 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3) 277.86 0.00000E+00 Peters anomaly, 603807 (3) 743.44 9.20315E-07 (3) 270.1 3.06772E-06 Pheochromocytoma, 171300 (3) 194 1.28921E-04 Phosphoglycerate dehydrogenase deficiency, 601815 (3) 0.00000E+00 Phosphoribosyl pyrophosphate synthetase-related gout (3) 0.00000E+00 Phosphoserine aminotransferase deficiency, 610992 (3) 0.00000E+00 Pigmented nodular adrenocortical disease, primary, 2, 0.00000E+00 610475 (3) Placental abruption (3) 641.2 0.00000E+00 Placental sulfatase deficiency (3) 762.2 7.66929E-08 Platelet disorder, familial, with associated myeloid 278.1 1.44259E-04 malignancy, 601399 (3) Porphyria cutanea tarda (3) 277.1 5.87468E-05 Preeclampsia, susceptibility to (3) 642.4 3.06772E-07 Progressive external ophthalmoplegia with mitochondrial 359.1 1.75780E-04 DNA deletions, 157640 (3) Proguanil poor metabolizer (3) 252 2.00130E-03 Propionicacidemia, 606054 (3) 276.2 1.09352E-02 Prostate cancer (3) 185 3.05231E-02 Proteus syndrome, 176920 (3) 0.00000E+00 Protoporphyria, erythropoietic (3) 277.1 5.87468E-05 , female, due to placental 752.7 1.30378E-06 aromatase deficiency (3) Pseudovaginal perineoscrotal hypospadias, 264600 (3) 753.8 4.01104E-05 Pseudoxanthoma elasticum, 264800 (3) 727.39 0.00000E+00 Pulmonary alveolar microlithiasis, 265100 (3) 0.00000E+00 Pyloric stenosis, infantile hypertrophic, 1, susceptibility to, 750.5 1.99402E-06 179010 (3)

10

Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) 0.00000E+00 Pyruvate carboxylase deficiency, 266150 (3) 271.8 1.05069E-05 Refsum disease, 266500 (3) 356.3 1.22709E-06 Renal glucosuria, 233100 (3) 271.4 1.44183E-05 Renal tubular with deafness, 267300 (3) 588.89 0.00000E+00 Retinal cone dystrophy 3, 610024 (3) 362.75 1.38047E-06 Retinitis pigmentosa 35, 610282 (3) 362.74 1.22555E-04 Rh-mod syndrome (3) 0.00000E+00 , cerivastatin-induced (3) 0.00000E+00 , progression of, 180300 (3) 714 1.47476E-02 Rhizomelic chondrodysplasia punctata, type 1, 215100 (3) 277.86 0.00000E+00 5-phosphate deficiency, 608611 (3) 0.00000E+00 SEMD, Pakistani type (3) 0.00000E+00 , 604369 (3) 319 1.07201E-03 Sandhoff disease, infantile, juvenile, and adult forms, 268800 330.1 8.28283E-06 (3) Sanfilippo syndrome, type A, 252900 (3) 277.5 2.45417E-06 , type I, 609241 (3) 272.2 1.30079E-03 Schizoaffective disorder, susceptibility to, 181500 (3) 295.9 2.27663E-03 Segawa syndrome, recessive (3) 255.2 1.46483E-05 Sensory ataxia neuropathy, dysarthria, and 334.3 3.87069E-04 ophthalmoparesis, 607459 (3) Sepiapterin reductase deficiency (3) 333.6 5.94370E-05 Severe combined immunodeficiency due to ADA 279.2 1.09671E-05 deficiency, 102700 (3) Sialic acid storage disorder, infantile, 269920 (3) 272.2 1.30079E-03 Sialuria, 269921 (3) 0.00000E+00 Sjogren-Larsson syndrome, 270200 (3) 757.1 3.96502E-05 Smith-Lemli-Opitz syndrome, 270400 (3) 759.89 3.02170E-05 Sotos syndrome, 117550 (3) 253 4.29396E-03 Spherocytosis, hereditary (3) 282 1.41491E-03 Spina bifida, folate-sensitive, susceptibility to, 601634 (3) 741 8.28283E-05 Spinocerebellar ataxia 12, 604326 (3) 334.3 3.87069E-04 Spondyloepimetaphyseal dysplasia, 608728 (3) 724.9 2.55924E-04 Stargardt disease 3, 600110 (3) 362.75 1.38047E-06 Statins, attenuated lowering by (3) 272.9 6.22900E-04 Subcortical laminal heteropia, X-linked, 300067 (3) 378.4 9.35653E-06 Succinic semialdehyde dehydrogenase deficiency, 271980 0.00000E+00 (3) Succinyl CoA:3-oxoacid CoA deficiency, 245050 276.2 1.09352E-02 11

(3) Sucrase-isomaltase deficiency, congenital, 222900 (3) 271.3 2.72045E-03 Sulfite oxidase deficiency, 272300 (3) 270 1.56070E-04 Superoxide dismutase, elevated extracellular (3) 0.00000E+00 Tangier disease, 205400 (3) 272.5 2.40279E-04 Tay-Sachs disease, 272800 (3) 330.1 8.28283E-06 Temperature-sensitive apoptosis, cellular (3) 0.00000E+00 Testicular microlithiasis, 610441 (3) () 0.00000E+00 Thiamine-responsive megaloblastic anemia syndrome, 265.1 1.15730E-04 249270 (3) Thrombophilia due to HRG deficiency (3) 453.9 1.06312E-03 Thymine-uraciluria (3) 0.00000E+00 adenoma, hyperfunctioning, somatic (3) 193 6.58715E-04 Thyroid organification defect IIA, 274500 (3) 0.00000E+00 Tolbutamide poor metabolizer (3) 0.00000E+00 Total iodide organification defect, 274500 (3) 244.9 5.14685E-02 deficiency, 606003 (3) 0.00000E+00 Trifunctional protein deficiency, type 1 (3) 277.85 0.00000E+00 Tumoral , hyperphosphatemic, familial, 211900 (3) 275.49 0.00000E+00 , type I (3) 270.2 1.48784E-05 Unipolar depression, susceptibility to, 608516 (3) 311 2.09007E-02 Urolithiasis, 2,8-dihydroxyadenine (3) 592.9 2.49022E-04 VATER association with hydrocephalus, 276950 (3) 759.89 3.02170E-05 Vitamin D-dependent rickets, type I, 264700 (3) 286.9 4.00774E-03 , type I, 193500 (3) 756.89 5.36850E-06 Warfarin resistance, 122700 (3) 995.2 7.33805E-03 Weaver syndrome, 277590 (3) 759.89 3.02170E-05 Wernicke-Korsakoff syndrome, susceptibility to, 277730 (3) 294 4.55456E-03 Wolman disease (3) 272.7 4.83165E-05 Xanthinuria, type I, 278300 (3) 277.2 1.76394E-06 Xeroderma pigmentosum, group A (3) 757.33 8.58960E-06

12