Table S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database

Similar documents
CHRONIC MYELOGENOUS LEUKEMIA

All diseases on Foresight

A. disorders of amino acid metabolism classical phenylketonuria and hyperphenylalaninemia

Diagnose a broad range of metabolic disorders with a single test, Global MAPS

BROADENING YOUR PATIENT S OPTIONS FOR GENETIC CARRIER SCREENING.

When users open the application interface, the starting page presents a disclaimer. Upon agreeing to the

COMMON INHERITED METABOLIC CONDITIONS IN SOUTH AFRICA DIAGNOSING RARE DISEASE IN GENETICALLY UNIQUE AND UNDERSTUDIED POPULATION GROUPS

7 Medical Genetics. Hemoglobinopathies. Hemoglobinopathies. Protein and Gene Structure. and Biochemical Genetics

EVIDENCE-BASED VITAMIN AND MINERAL USAGE SUMMARY TABLE (APRIL 2002)

Newborn screening for congenital metabolic diseases Optional out-of-pocket tests Information Sheet

In 2008 NICE issued guidelines on lipid modification. Key points are summarised below.

The Israeli population carrier screening program. Joël Zlotogora MD, PhD Hadassah medical school Hebrew University Jerusalem

Medical Foods for Inborn Errors of Metabolism

MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES

NEWBORN SCREENING. health.mo.gov/newbornscreening MISSOURI DEPARTMENT OF HEALTH AND SENIOR SERVICES

How much do you know about illnesses or health problems for your parents, grandparents, brothers, sisters, and/or children? 1 A lot Some None at all

Routine Newborn Screening, Testing the Newborn Inherited Metabolic Disorders Update August 2015

[R23-13-MET/HRG] STATE OF RHODE ISLAND AND PROVIDENCE PLANTATIONS DEPARTMENT OF HEALTH. February October October 1992 (E) September 1995

Dual-energy X-ray absorptiometry (DXA), body composition assessment 62

RECOMMENDED COURSE ORDER

What s New in Newborn Screening?

23andMe Reports GENETIC HEALTH RISK REPORTS. Increased risk for breast and ovarian cancer. function

Most common is the congenital adrenogenital syndrome (AGS) or congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.

PREDICAGEN LLC REPORT

Results for Trendy. Explanation of Results

Family Medical History Questionnaire (FMHQ)

Table of Contents Section I Pituitary and Hypothalamus 1. Development of the Pituitary Gland 2. Divisions of the Pituitary Gland and Relationship to

Newborn Screen & Development Facts about the genetic diseases new since March 2006 (Excluding Cystic Fibrosis)

SELECTIVE VULNERABILITY (HYPOXIA AND HYPOGLYCEMIA)

Positive Newborn Screens: What do you do next?

For Your Baby s Health Department of Health

panel tests assessing multiple genes at the same time for the diagnosis of one or more related disorders

Newborn Screening in Manitoba. Information for Health Care Providers

The spectrum and outcome of the. neonates with inborn errors of. metabolism at a tertiary care hospital

(f) "Birthing center" means any facility that is licensed by the Georgia Department of Community Health as a birthing center;

Standard Therapies - Cord Blood

Results for Dar. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results

Newborn Screening: Blood Spot Disorders

Coagulation factor VII deficiency. Hemophilia A (German Shepherd Dog, type 1) Pyruvate kinase deficiency (Labrador Retriever type)

Premium Specialty: Pediatrics

Genética e Hígado: Cómo contribuye la genética en el algoritmo diagnóstico de la enfermedad hepática pediátrica? Nicholas Ah Mew, MD

Subject: Enteral Formulas

Metabolic Disorders Screened Overseas but not Screened in Australia Condition Features Inherited Diagnosis Treatment Newborn Screen

CARRIER SCREEN - LIST OF DISORDERS

Assessing the follow-up of BART hemoglobin reported by the Wisconsin Newborn Screening Laboratory

VIPUL M DESAI

CUMULATIVE ILLNESS RATING SCALE (CIRS)

Antihyperlipidemic Drugs

GUIDE TO NEWBORN SCREENING PROGRAMME

Metabolic Changes in ASD. Norma J. Arciniegas, MD Simón E. Carlo, MD Instituto Filius

HEALTH SERVICES POLICY & PROCEDURE MANUAL

Newborn Screening: Focus on Treatment

A Guide for Prenatal Educators

Results for Farrah. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results

Results for Ceaser. Em Locus (Melanistic Mask) Explanation of Results

CLINICAL SIGNS SUGGESTIVE OF A NEUROMETABOLIC DISEASE. Bwee Tien Poll-The Amsterdam UMC The Netherlands

Our partners worldwide. CENTOGENE Report: Diagnosed cases of rare diseases at CENTOGENE. January 2012 to June 2016.

Pet Profile Number: Date of Test: 00/00/0000 Date of Certificate: 00/00/0000 Canine Pet Name: Date of Birth: Pet Type: Breed: Sex: Spayed/Neutered: Co

HEREDITARY METABOLIC DISEASES

Figure 1. Comparison of Cancer Incidence Rates 1 of Individual Census Tracts with Louisiana, All Cancers Combined,

Metabolic Disorders. Chapter Thomson - Wadsworth

FABRY DISEASE 12/30/2012. Ataxia-Telangiectasia. Ophthalmologic Signs of Genetic Neurological Disease

NEWBORN SCREENING. in Massachusetts: Answers for You and Your Baby. University of Massachusetts Medical School

Results for Diva. These tests were developled and performed by Paw Print Genetics, Spokane WA. Explanation of Results

Adams Memorial Hospital Decatur, Indiana EXPLANATION OF LABORATORY TESTS

The Guide to Clinical Preventive Services Recommendations of the U.S. Preventive Services Task Force

BCH 447. Triglyceride Determination in Serum

LECOM Health Ophthalmology

Overview of Newborn Screening, Potential Uses of Residual Dried Blood Spots, and Protection of Privacy

Adult Health History

Hyperlipidemia. Prepared by : Muhannad Mohammed Supervisor professor : Dr. Ahmed Yahya Dallalbashi

Conversion of amino acids الفريق الطبي األكاديمي

IN-VITRO FERTILIZATION WITH DONATED OOCYTES COMPREHENSIVE HISTORY OF RECIPIENT COUPLE (HUSBAND)

Assessing Mothers Knowledge of the Wisconsin Newborn Screening Program. Sara Wolfgram UW Master of Public Health Symposium August 11, 2006

Using 3-Digit ICD-9-CM Codes with the Elixhauser Comorbidity Index

Estrogen. Cysteine Prevents oxidation of estrogen into a dangerous form that causes breast cancer. 29,30,31

Pet Profile Number: Date of Test: 02/19/2009 Date of Certificate: 09/16/2009 Canine Pet Name: Date of Birth: Pet Type: Breed: Sex: Spayed/Neutered: Co

Georgia Department of Human Services BIRTH FAMILY BACKGROUND INFORMATION FOR CHILD. Name of Child Date of Birth Sex Race Hispanic Ethnicity Yes No

NutraHacker. Carrier and Drug Response Report for Customer: b2b0b618-db91-447c-9470-ff7b79ae147d. Instructions:

DEPARTMENT OF PATOLOGY COURSE IN PATHOPHISIOLOGY FOR STUDENTS OF FACULTY OF MEDICINE

ANTIHYPERLIPIDEMIA. Darmawan,dr.,M.Kes,Sp.PD

Clinical Approach to Diagnosis of Lysosomal Storage Diseases

INBORN ERRORS OF METABOLISM (IEM) IAP UG Teaching slides

Summary of Strategic Competitive Analysis and Publication Planning

TOXIC AND NUTRITIONAL DISORDER MODULE

S2 File. Clinical Classifications Software (CCS). The CCS is a

NEWBORN METABOLIC SCREEN, MINNESOTA

Genetic Diseases. SCPA202: Basic Pathology

JCIH Recommendations for Following Children At Risk for Hearing Loss

Lipids Testing

MEDICAL FACULTY DEPARTMENT OF PATHOPHYSIOLOGY QUESTION FOR ORAL PART OF EXAM MEDICAL STUDENTS

Inborn Errors of Metabolism. Metabolic Pathway. Digestion and Fasting. How is Expanded Newborn Screening Different? MS/MS. The body is a factory.

Barbara G. Wells, PharmD, FASHP, FCCP, BCPP Dean and Professor School of Pharmacy, The University of Mississippi Oxford, Mississippi

What s New in Newborn Screening?

MEDICAL HISTORY. Previous Nephrologist. Medication taken Insulin Oral Both. Who manages your diabetes? Blindness Yes No Hearing Problems Yes No

ALBUMIN, SERUM I10 Essential (primary) hypertension

Biochem. q1) the amount of cholesterol lost per day is: +a.1g/day b.10g/week c.15g/day d.5g/day

Transcription:

Table S5. Disease pairs that have a significant comorbidity and are connected in either KEGG or BiGG database Coincide nce Expected coincidence Maximum possible comorbidity Disease1 Disease2 Link(KEGG) Link(BiGG) Comorbidity COPD, rate of decline of lung function in, 606963 Emphysema Connected Disconnected 175129 52509.9933 1.62703E-01 0.403903936 143890 608622 Connected Disconnected 1425941 1081806.359 1.29599E-01 0.802512244 Hemolytic anemia Spherocytosis, hereditary Disconnected Connected 1035 10.29337858 8.85371E-02 0.627687981 Diabetes mellitus, gestational, 125851 Obesity, adrenal insufficiency, and red hair Connected Connected 115638 53150.67967 8.32656E-02 0.353157206 608622 Coronary spasms, susceptibility to Connected Connected 326513 225637.9452 7.41408E-02 0.326672059 Cone dystrophy-1, 304020 Leber congenital amaurosis I, 204000 Connected Connected 1 2.21E-05 5.89243E-02 0.942808969 Leber congenital amaurosis I, 204000 Retinal cone dystrophy 3, 610024 Connected Connected 1 2.21E-05 5.89243E-02 0.942808969 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Hyperthyroidism, congenital Anxiety-related personality traits, 607834 HARP syndrome, 607236 Iron deficiency anemia, susceptibility to Connected Disconnected 33482 12413.75289 5.50282E-02 0.353423754 Total iodide organification defect, 274500 Connected Connected 9455 1848.685123 5.03722E-02 0.225628409 Obsessive-compulsive disorder 1, 164230 Disconnected Connected 2254 146.8717415 4.88733E-02 0.114072498 Obesity, adrenal insufficiency, and red hair Connected Disconnected 16758 5867.509885 4.02348E-02 0.866675644 Apparent mineralocorticoid excess, hypertension due to Connected Disconnected 65 0.248480801 3.59782E-02 0.915548911 Diabetes mellitus, gestational, 125851 HARP syndrome, 607236 Connected Disconnected 63196 40166.82553 3.51923E-02 0.306072749 Glaucoma 1, open angle, E, 137760 608622 Connected Disconnected 91587 66585.11119 3.31989E-02 0.174163193 143890 Warfarin resistance, 122700 Connected Disconnected 38615 23575.09974 3.13629E-02 0.15036503 Endometrial carcinoma Ovarian cancer Connected Connected 1359 128.8248451 3.01143E-02 0.738631153 Gallbladder disease 1, 600803 Cholestasis, benign recurrent intrahepatic, 243300 Disconnected Connected 2589 434.7295454 2.88791E-02 0.351308349 Diabetes mellitus, gestational, 125851 Connected Disconnected 217077 183033.8225 2.52275E-02 0.676355032 Parkinson disease 13, 610297 Schizoaffective disorder, susceptibility to, 181500 Connected Disconnected 2489 519.3386323 2.41751E-02 0.357972866 1

Crigler-Najjar syndrome, type I, 218800 Hyperbilirubinemia, familial transcient neonatal, 237900 Connected Disconnected 206 5.358475825 2.40251E-02 0.420728945 Gilbert syndrome, 143500 Glutathione synthetase deficiency, 266130 Hyperbilirubinemia, familial transcient neonatal, 237900 Connected Disconnected 206 5.358475825 2.40251E-02 0.420728945 Myocardial infarcation, susceptibility to Connected Connected 4900 1725.231333 2.14138E-02 0.950095666 encephalomyopathy syndrome, 603041 Connected Disconnected 8742 4477.239983 1.84804E-02 0.21147756 Lhermitte-Duclos syndrome Oligodendroglioma, 137800 Connected Connected 109 3.049617505 1.68101E-02 0.801068667 Hemolytic anemia Connected Disconnected 2029 611.3348513 1.65955E-02 0.078006493 Alcoholism, susceptibility to, 103780 Epilepsy with grand mal seizures on awakening, 607628 Connected Connected 2038 656.3061837 1.50582E-02 0.587516275 Goiter, congenital Hyperthyroidism, congenital Connected Connected 426 52.28445228 1.43432E-02 0.726445932 susceptibility to, 104300 Goiter, congenital Total iodide organification defect, 274500 Connected Disconnected 23572 17070.24138 1.43334E-02 0.693550372 Total iodide organification defect, 274500 Connected Connected 2489 976.865827 1.37669E-02 0.16390684 encephalomyopathy syndrome, 603041 Nucleoside phosphorylase deficiency, immunodeficiency due to Connected Disconnected 243 20.62289537 1.35914E-02 0.307205858 Achondrogenesis Ib, 600972 Deafness, X-linked 1, progressive Disconnected Connected 4861 2530.210879 1.31644E-02 0.297714602 Diabetes mellitus, gestational, 125851 Hyperinsulinemic hypoglycemia, familial, 3, 602485 Connected Connected 711 174.5635641 1.23204E-02 0.019991406 608622 Warfarin resistance, 122700 Connected Disconnected 38595 32218.06995 1.21248E-02 0.120669778 143890 HDL deficiency, familial, 604091 Disconnected Connected 3677 2001.201493 1.19540E-02 0.043661785 Enolase-beta deficiency Myopathy due to CPT II deficiency, 255110 Connected Connected 107 6.95252551 1.05194E-02 0.378522784 143890 Norum disease, 245900 Disconnected Connected 11864 8936.170372 9.89395E-03 0.092363701 to CMO I deficiency, 203400 Connected Connected 58 2.867028174 9.02446E-03 0.32133604 143890 Glaucoma 1, open angle, E, 137760 Connected Disconnected 54578 48722.67768 8.52673E-03 0.217022475 Agammaglobulinemia, 601495 COPD, rate of decline of lung function in, 606963 Connected Disconnected 2140 1192.305497 8.23265E-03 0.06004257 Favism Hemolytic anemia Connected Connected 13 0.20420492 7.84400E-03 0.224237866 2

Paraganglioma, familial chromaffin, 4, 115310 Pheochromocytoma, 171300 Connected Connected 8 0.079156795 7.79725E-03 0.604341695 Myelodysplasia syndrome-1 Myelogenous leukemia, acute Connected Disconnected 9 0.108820327 7.46490E-03 0.63799342 Immunodeficiency due to defect in CD3-epsilon Connected Disconnected 445 140.1658463 7.45084E-03 0.037343831 Asthma, 600807 Atopy, 147050 Connected Connected 341 90.08342687 7.40466E-03 0.117567449 Vitamin D-dependent rickets, type I, 264700 Warfarin resistance, 122700 Connected Disconnected 904 383.4619682 7.40349E-03 0.737788862 143890 Tangier disease, 205400 Disconnected Connected 1412 771.9483229 7.34977E-03 0.027112344 Diabetes mellitus, gestational, 125851 Sucrase-isomaltase deficiency, congenital, 222900 Disconnected Connected 7753 5925.472484 7.21357E-03 0.116627822 608622 Connected Disconnected 1148 661.9989916 6.42343E-03 0.017234983 to Connected Connected 1148 661.9989916 6.42343E-03 0.017234983 Gallbladder disease 1, 600803 Colon adenocarcinoma Disconnected Connected 4864 3542.749622 6.25031E-03 0.98980348 Leber congenital amaurosis I, 204000 Retinitis pigmentosa 35, 610282 Connected Connected 1 0.00196087 6.24203E-03 0.100056488 Alcoholism, susceptibility to, 103780 Alcohol intolerance, acute Connected Disconnected 21 0.853985871 6.07391E-03 0.021148646 Exertional myoglobinuria due to Cystathioninuria, 219500 deficiency of LDH-A Connected Disconnected 1 0.00209025 6.04489E-03 0.139310994 Exertional myoglobinuria due to deficiency of LDH-A Homocysteine, total plasma, elevated Connected Disconnected 1 0.00209025 6.04489E-03 0.139310994 Meningioma, 607174 Oligodendroglioma, 137800 Connected Connected 10 0.213097399 5.87253E-03 0.329894203 188890 Warfarin resistance, 122700 Connected Disconnected 175 40.54979881 5.86994E-03 0.239488869 Gallbladder disease 1, 600803 Norum disease, 245900 Disconnected Connected 1038 591.8235484 5.12814E-03 0.41004897 3-beta-hydroxysteroid dehydrogenase, type II, deficiency Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 Cortisone reductase deficiency, 604931 to CMO I deficiency, 203400 Connected Disconnected 10 0.278536308 5.10490E-03 0.100150887 to CMO I deficiency, 203400 Connected Connected 10 0.278536308 5.10490E-03 0.100150887 to CMO I deficiency, 203400 Connected Disconnected 10 0.278536308 5.10490E-03 0.100150887 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency to CMO I deficiency, 203400 Connected Disconnected 10 0.278536308 5.10490E-03 0.100150887 Alcoholism, susceptibility to, 103780 Fructose intolerance Connected Disconnected 20 1.070489331 5.09745E-03 0.023678201 Schizoaffective disorder, Alcoholism, susceptibility to, 103780 susceptibility to, 181500 Connected Disconnected 694 357.0502898 4.97389E-03 0.432927991 Diabetes mellitus, gestational, 125851 Sulfite oxidase deficiency, 272300 Connected Disconnected 631 339.9395722 4.79048E-03 0.027898695 3

Glucose/galactose malabsorption, 606824 Hypothyroidism, autoimmune, 140300 Disconnected Connected 2507 1825.678852 4.54018E-03 0.224216225 Hypothyroidism, autoimmune, 140300 Pendred syndrome, 274600 Disconnected Connected 56 9.006929385 4.45244E-03 0.015727315 Asthma, 600807 Atherosclerosis, susceptibility to Connected Connected 7084 5889.099001 4.40561E-03 0.960290269 Cholestasis, benign recurrent Bile acid malabsorption, primary intrahepatic, 243300 Disconnected Connected 53 8.078659522 4.38196E-03 0.384914976 Agammaglobulinemia, 601495 Emphysema Connected Disconnected 452 221.8223995 4.34105E-03 0.14865557 Lung cancer, 211980 Warfarin resistance, 122700 Connected Disconnected 1053 655.7018407 4.32740E-03 0.9661518 Deafness, X-linked 1, progressive Hypothyroidism, autoimmune, 140300 Disconnected Connected 3606 2843.153064 4.07660E-03 0.280017605 Glutathione synthetase deficiency, 266130 Hemolytic anemia Connected Connected 210 79.55288046 4.07371E-03 0.224706008 susceptibility to, 104300 Hyperthyroidism, congenital Connected Disconnected 1344 913.6446338 3.99947E-03 0.325323752 Hyperammonemia with hypoornithinemia, hypocitrullinemia, hypoargininemia, and hypoprolinemia Hyperprolinemia, type I, 239500 Connected Connected 1 0.004783763 3.98497E-03 0.276265354 Colon adenocarcinoma Ovarian cancer Connected Connected 816 504.5395753 3.87684E-03 0.370901795 Diabetes mellitus, gestational, 125851 Hemolytic anemia Connected Connected 1656 1215.26309 3.83728E-03 0.052760084 188890 Orthostatic intolerance, 604715 Disconnected Connected 96 25.85573599 3.83000E-03 0.300318533 Colon adenocarcinoma Cowden disease, 158350 Connected Connected 93 24.9422574 3.80589E-03 0.082375663 Charcot-Marie-Tooth disease, axonal, type 2F, 606595 Neuropathy, congenital hypomyelinating, 1, 605253 Connected Disconnected 16 1.267437849 3.62545E-03 0.492102479 Ossification of posterior longitudinal ligament of spine, 602475 Connected Disconnected 225 101.5109966 3.54671E-03 0.03177947 Hyperoxaluria, primary, type 1, 259900 Lactate dehydrogenase-b deficiency Disconnected Connected 8 0.372699114 3.46467E-03 0.062062346 Citrullinemia, 215700 3-beta-hydroxysteroid dehydrogenase, type II, deficiency Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 Epilepsy with grand mal seizures on awakening, 607628 Disconnected Connected 27 3.782985769 3.31276E-03 0.128449253 Connected Disconnected 2 0.028798442 3.21706E-03 0.311670261 Connected Connected 2 0.028798442 3.21706E-03 0.311670261 Cortisone reductase deficiency, 604931 Connected Disconnected 2 0.028798442 3.21706E-03 0.311670261 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency Connected Disconnected 2 0.028798442 3.21706E-03 0.311670261 HDL deficiency, familial, 604091 Norum disease, 245900 Disconnected Connected 75 22.59116927 3.05879E-03 0.472715845 4

Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Protoporphyria, erythropoietic Connected Disconnected 40 8.678363275 2.96134E-03 0.071601887 Nucleoside phosphorylase deficiency, immunodeficiency due to Connected Disconnected 623 424.1109271 2.79502E-03 0.064967145 Cerebellar ataxia, 604290 Iron deficiency anemia, susceptibility to Connected Disconnected 623 424.1109271 2.79502E-03 0.064967145 Galactosialidosis Sialic acid storage disorder, infantile, 269920 Disconnected Connected 115 47.17665871 2.74017E-03 0.683347698 Crohn disease, ileal, protection against, 266600 Rheumatoid arthritis, progression of, 180300 Disconnected Connected 370 224.5893911 2.70865E-03 0.279499071 Malonyl-CoA decarboxylase deficiency, 248360 Propionicacidemia, 606054 Disconnected Connected 45 12.07235464 2.63904E-03 0.087514481 Combined hyperlipidemia, familial, 144250 Hepatic lipase deficiency Connected Disconnected 39 10.56492837 2.42501E-03 0.691764742 Diabetes mellitus, gestational, 125851 Apparent mineralocorticoid excess, hypertension due to Apparent mineralocorticoid excess, hypertension due to Neurodegeneration, pantothenate kinase-associated, 234200 Connected Disconnected 8690 8001.359001 2.34014E-03 0.135590783 Severe combined immunodeficiency due to ADA deficiency, 102700 Connected Disconnected 40 12.01661632 2.33586E-03 0.010933607 608622 Connected Connected 712 554.9208231 2.26751E-03 0.01577947 to Connected Disconnected 712 554.9208231 2.26751E-03 0.01577947 Aromatic L-amino acid decarboxylase deficiency, 608643 Asthma, 600807 Connected Disconnected 41 12.49316058 2.25867E-03 0.043776633 Leukemia, Philadelphia chromosomepositive, resistant to imatinib Vitamin D-dependent rickets, type I, 264700 Connected Disconnected 41 12.45597137 2.24453E-03 0.243415383 Glaucoma 1, open angle, E, 137760 Warfarin resistance, 122700 Connected Disconnected 1754 1451.045859 2.22749E-03 0.692854647 susceptibility to, 104300 Citrullinemia, 215700 Connected Connected 61 22.99436925 2.22342E-03 0.051541128 susceptibility to, 104300 Hyperornithinemiahyperammonemia-homocitrullinemia syndrome, 238970 Disconnected Connected 61 22.99436925 2.22342E-03 0.051541128 HDL deficiency, familial, 604091 Tangier disease, 205400 Disconnected Connected 13 1.951531194 2.19118E-03 0.620962801 Lipoprotein lipase deficiency, 238600 Hepatic lipase deficiency Connected Disconnected 13 1.951531194 2.19118E-03 0.620962801 HPRT-related gout, 300323 encephalomyopathy syndrome, 603041 Connected Disconnected 18 3.697983022 2.06393E-03 0.130067303 143890 188890 Connected Disconnected 1600 1361.566049 2.06171E-03 0.036010751 5

Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Connected Disconnected 113 57.17976429 2.05637E-03 0.183822237 Norum disease, 245900 Tangier disease, 205400 Disconnected Connected 30 8.714372486 1.99986E-03 0.293538955 Allan-Herndon-Dudley syndrome, 300523 Total iodide organification defect, 274500 Disconnected Connected 907 719.4220511 1.98958E-03 0.140633273 Breast and colorectal cancer, susceptibility to Oligodendroglioma, 137800 Connected Connected 6 0.596672717 1.93767E-03 0.552039543 Down syndrome, susceptibility to, 190685 Neural tube defects, 182940 Connected Connected 1 0.019713618 1.93360E-03 0.499000177 Lipoprotein lipase deficiency, 238600 Combined hyperlipidemia, familial, 144250 Connected Connected 18 4.07534112 1.91167E-03 0.429560172 Proguanil poor metabolizer Warfarin resistance, 122700 Connected Connected 285 191.485161 1.88026E-03 0.520836612 Immunodeficiency due to defect in CD3- epsilon encephalomyopathy syndrome, 603041 Connected Disconnected 24 6.815730033 1.82670E-03 0.176585312 Cholestasis, benign recurrent intrahepatic, 243300 Colon adenocarcinoma Disconnected Connected 578 443.582563 1.78412E-03 0.347726227 Lung cancer, 211980 188890 Connected Connected 77 37.86967498 1.76736E-03 0.247879131 Lhermitte-Duclos syndrome Meningioma, 607174 Connected Connected 4 0.332005073 1.76349E-03 0.264267909 Cystathioninuria, 219500 Thrombophilia due to HRG deficiency Connected Connected 1 0.024451519 1.72864E-03 0.040711807 Homocysteine, total plasma, elevated Thrombophilia due to HRG deficiency Connected Connected 1 0.024451519 1.72864E-03 0.040711807 Homocystinuria due to MTHFR deficiency, 236250 Thrombophilia due to HRG deficiency Connected Connected 1 0.024451519 1.72864E-03 0.040711807 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Thrombophilia due to HRG deficiency Connected Connected 1 0.024451519 1.72864E-03 0.040711807 Alpha-methylacetoacetic aciduria, 203750 Fatty liver, acute, of pregnancy Connected Connected 5 0.575481467 1.61606E-03 0.206156464 Fabry disease, 301500 Krabbe disease, 245200 Disconnected Connected 1 0.027830125 1.61392E-03 0.956180907 Fabry disease, 301500 Metachromatic leukodystrophy due to deficiency of SAP-1, 249900 Disconnected Connected 1 0.027830125 1.61392E-03 0.956180907 Gaucher disease, atypical, 610539 Krabbe disease, 245200 Disconnected Connected 1 0.027830125 1.61392E-03 0.956180907 Cholesteryl ester storage disease Hepatic lipase deficiency Connected Disconnected 4 0.392424083 1.59536E-03 0.278428682 Wolman disease Hepatic lipase deficiency Connected Disconnected 4 0.392424083 1.59536E-03 0.278428682 608622 188890 Connected Disconnected 2059 1860.735721 1.56313E-03 0.028899069 Hemolytic anemia Myopathy due to CPT II deficiency, 255110 Connected Connected 10 2.012478538 1.55992E-03 0.704036964 HMG-CoA lyase deficiency Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Disconnected Connected 45 20.09872086 1.54678E-03 0.112922468 6

Agammaglobulinemia, 601495 Argininemia, 207800 Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh Connected Disconnected 7 1.115619259 1.54342E-03 0.470519258 Hypothyroidism, autoimmune, 140300 Disconnected Connected 82 46.52722379 1.47878E-03 0.035746369 Elliptocytosis, Malaysian-Melanesian type Hemolytic anemia Disconnected Connected 2 0.126651685 1.45819E-03 0.176595252 COPD, rate of decline of lung function in, 606963 Hemorrhagic diathesis due to \`antithrombin\' Pittsburgh Connected Disconnected 339 264.0903711 1.38234E-03 0.028251185 Retinitis pigmentosa 35, 610282 Cerebral infarction, susceptibility to, 601367 Connected Disconnected 17 5.469480121 1.36780E-03 0.188913032 Biotinidase deficiency, 253260 Hyperornithinemiahyperammonemia-homocitrullinemia syndrome, 238970 Disconnected Connected 1 0.039171391 1.34450E-03 0.790559138 Cholestasis, benign recurrent intrahepatic, 243300 Norum disease, 245900 Disconnected Connected 115 74.10137166 1.31891E-03 0.856747304 Adenosine deaminase deficiency, partial, 102700 Connected Disconnected 8 1.932742485 1.26282E-03 0.004384876 G6PD deficiency Hyperinsulinemic hypoglycemia, familial, 3, 602485 Connected Disconnected 1 0.045281088 1.24257E-03 0.735289026 encephalomyopathy syndrome, 603041 Severe combined immunodeficiency due to ADA deficiency, 102700 Connected Disconnected 4 0.584322179 1.23999E-03 0.051701027 Diabetes mellitus, gestational, 125851 Favism Connected Disconnected 93 61.13900905 1.23642E-03 0.011830809 Hypercalciuria, absorptive, susceptibility Cerebral infarction, susceptibility to, to, 143870 601367 Connected Connected 376 299.7124507 1.22652E-03 0.712725218 Iron deficiency anemia, susceptibility to Protoporphyria, erythropoietic Connected Disconnected 98 64.36872798 1.21297E-03 0.025305808 Hyperbilirubinemia, familial transcient neonatal, 237900 Mucopolysaccharidosis II Connected Disconnected 1 0.04872726 1.19434E-03 0.040115265 Glaucoma 1, open angle, E, 137760 Peters anomaly, 603807 Connected Connected 2 0.181985455 1.18925E-03 0.007730735 Apparent mineralocorticoid excess, hypertension due to to CMO I deficiency, 203400 Connected Disconnected 9 2.403287096 1.17935E-03 0.294198861 Fatty liver, acute, of pregnancy Isovaleric acidemia, 243500 Connected Disconnected 195 145.2291141 1.15060E-03 0.30367824 Fatty liver, acute, of pregnancy Segawa syndrome, recessive Cystinuria, 220100 Homozygous 2p16 deletion syndrome, 606407 Asthma, 600807 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Disconnected Connected 195 145.2291141 1.15060E-03 0.30367824 Unipolar depression, susceptibility to, 608516 Disconnected Connected 12 3.991997305 1.12174E-03 0.026195754 Sucrase-isomaltase deficiency, congenital, 222900 Disconnected Connected 15 5.536078081 1.11550E-03 0.239211317 Sucrase-isomaltase deficiency, congenital, 222900 Disconnected Connected 15 5.536078081 1.11550E-03 0.239211317 Platelet disorder, familial, with associated myeloid malignancy, 601399 Connected Connected 67 41.59227441 1.10336E-03 0.079879337 7

Acromesomelic dysplasia, Hunter- Thompson type, 201250 Hypercalciuria, absorptive, susceptibility to, 143870 Connected Disconnected 17 6.722359075 1.10151E-03 0.106562095 Hypophosphatasia, childhood, 241510 Phenylketonuria Connected Disconnected 1 0.059945818 1.06408E-03 0.045209697 Breast and colorectal cancer, susceptibility to Meningioma, 607174 Connected Connected 1 0.064958431 1.01607E-03 0.597591616 Obesity, adrenal insufficiency, and red hair Sulfite oxidase deficiency, 272300 Connected Disconnected 75 49.65786502 1.00837E-03 0.078997949 Alcoholism, susceptibility to, 103780 Aldolase A deficiency Connected Disconnected 2 0.2405594 9.99464E-04 0.011224514 Statins, attenuated cholesterol HMG-CoA lyase deficiency lowering by Connected Connected 5 1.14488169 9.98156E-04 0.475594222 Alpha-methylacetoacetic aciduria, 203750 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 Disconnected Connected 15 6.178333671 9.88294E-04 0.062605232 Alcoholism, susceptibility to, 103780 Sjogren-Larsson syndrome, 270200 Connected Connected 15 6.218460496 9.81159E-04 0.057069767 Cowden disease, 158350 Ovarian cancer Connected Connected 10 3.481250098 9.68727E-04 0.222095616 Leiomyomatosis and renal cell cancer, 605839 Multiple cutaneous and uterine leiomyomata, 150800 Connected Connected 8 2.562042127 9.42336E-04 0.142692828 Enolase-beta deficiency Pyruvate carboxylase deficiency, 266150 Connected Disconnected 2 0.264068754 9.36420E-04 0.073760091 Aromatase deficiency Warfarin resistance, 122700 Connected Disconnected 11 4.145971105 9.35655E-04 0.076563447 Deafness, X-linked 1, progressive Enlarged vestibular aqueduct, 603545 Disconnected Connected 7 2.109808278 9.34350E-04 0.094748051 Glaucoma 1, open angle, E, 137760 188890 Connected Disconnected 114 83.80430195 9.20641E-04 0.165930976 Glycogen storage disease I Hemolytic anemia Connected Disconnected 35 20.23525689 9.10478E-04 0.44737432 Achondrogenesis Ib, 600972 Pendred syndrome, 274600 Disconnected Connected 17 8.015548303 8.99668E-04 0.016721275 Aldolase A deficiency 3-beta-hydroxysteroid dehydrogenase, type II, deficiency Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 Cortisone reductase deficiency, 604931 Cortisone reductase deficiency, 604931 Epilepsy with grand mal seizures on awakening, 607628 Connected Connected 1 0.083694375 8.78980E-04 0.019105026 to Connected Disconnected 85 64.31424588 8.77084E-04 0.005371632 608622 Connected Disconnected 85 64.31424588 8.77084E-04 0.005371632 to Connected Connected 85 64.31424588 8.77084E-04 0.005371632 608622 Connected Connected 85 64.31424588 8.77084E-04 0.005371632 to Connected Disconnected 85 64.31424588 8.77084E-04 0.005371632 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency to Connected Disconnected 85 64.31424588 8.77084E-04 0.005371632 Hemolytic anemia Sucrase-isomaltase deficiency, Connected Disconnected 33 19.79113909 8.23596E-04 0.45237991 8

congenital, 222900 Amish infantile epilepsy syndrome, 609056 GM1-gangliosidosis Connected Disconnected 3 0.64037586 8.16790E-04 0.591700366 Isovaleric acidemia, 243500 Maple syrup urine disease, type II, 248600 Disconnected Connected 2 0.328053115 8.12857E-04 0.014425741 Hemolytic anemia Myocardial infarcation, susceptibility to Connected Connected 115 88.02571081 8.01265E-04 0.213492204 Fabry disease, 301500 Hemolytic anemia Connected Disconnected 2 0.351500271 7.70253E-04 0.294200279 Leukemia, Philadelphia chromosomepositive, resistant to imatinib Warfarin resistance, 122700 Connected Disconnected 36 22.80651008 7.67984E-04 0.179589159 Thiamine-responsive megaloblastic anemia syndrome, 249270 Basal ganglia disease, adult-onset, 606159 Disconnected Connected 4 1.202190518 7.06976E-04 0.381005035 susceptibility to, 104300 Goiter, congenital Connected Disconnected 538 482.7800092 7.05477E-04 0.236330116 Fabry disease, 301500 Sucrase-isomaltase deficiency, congenital, 222900 Connected Disconnected 5 1.713871838 6.96100E-04 0.133090296 Fructose-bisphosphatase deficiency Wernicke-Korsakoff syndrome, susceptibility to, 277730 Connected Disconnected 2 0.405353112 6.95210E-04 0.038624203 Fructose intolerance Wernicke-Korsakoff syndrome, susceptibility to, 277730 Connected Disconnected 2 0.405353112 6.95210E-04 0.038624203 Fabry disease, 301500 Glycogen storage disease I Connected Disconnected 5 1.752331525 6.80383E-04 0.13161765 Galactosialidosis Gaucher disease, atypical, 610539 Disconnected Connected 5 1.752331525 6.80383E-04 0.13161765 Mental retardation syndrome, X-linked, Cabezas type, 300354 Myelogenous leukemia, acute Connected Disconnected 3 0.814724443 6.70844E-04 0.233058006 608622 Peters anomaly, 603807 Connected Disconnected 8 4.040685605 6.69760E-04 0.00134641 Ornithine transcarbamylase deficiency, 311250 Coronary spasms, susceptibility to Connected Disconnected 7 2.980701134 6.61946E-04 0.009061275 Breast and colorectal cancer, susceptibility to Ovarian cancer Connected Connected 8 3.578855241 6.47988E-04 0.225187946 9