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Home , Aceruloplasminemia, Alternating hemiplegia, Atransferrinemia, Cystathioninuria, Hypophosphatemia, Mandibuloacral dysplasia

The human disease network Goh K-I, Cusick ME, Valle D, Childs B, Vidal M, Barabasi′ A-L (2007) Proc Natl Acad Sci USA 104:8685-8690 Disorder Class Bone

Coats Cancer Urolithiasise disease NDP Caffey van_Buchem Exudative Cardiovascular disease disease vitreoretinopathy Norrie SLC34A1 disease 439 LRP5 Connective tissue disorder Nevo Hyperostosis, syndrome COL1A1 endosteal Dermatological PLOD1 217 PAX9 Oligodontia Osteogenesis Osteoporosis 1164 Developmental Ehlers-Danlos imperfecta syndrome Arthropathy COL3A1 , Nose, Throat Aneurysm, COL1A2 familial_arterial Myasthenic Witkop 733 syndrome syndrome Pseudoachondroplasia Endocrine 3-methylglutaconicaciduria OPA3 WISP3 Optic Marfan block MSX1 atrophy OPA1 Aortic syndrome Paramyotonia Sick_sinus Gastrointestinal aneurysm congenita syndrome 3558 Intervertebral_disc Brugada SCN4A disease syndrome Spondyloepiphyseal COMP COL9A2 Hematological Glaucoma Weill-Marchesani Shprintzen-Goldberg Cramps, SCN5A Zlotogora-Ogur Cleft dysplasia syndrome syndrome potassium-aggravated Myotonia 2785 syndrome palate Parkes_Weber Basal_cell FBN1 congenita Oculodentodigital COL9A3 1432 Immunological 1414 CYP1B1 syndrome nevus_syndrome MASS Hypokalemic Acquired dysplasia Peters long_QT_syndrome Epiphyseal FLNB RASA1 PTCH Keratitis syndrome periodic MATN3 Metabolic SHH anomaly Eye Ectopia Thyrotoxic paralysis dysplasia Atelosteogenesis anomalies Marshall Larson Capillary Basal_cell Holoprosencephaly Coloboma, periodic KCNH2 PVRL1 malformations GJA1 Incontinentia syndrome SLC26A2 syndrome carcinoma ocular paralysis pigmenti Muscular PTCH2 26 Long_QT Wagner Osteoarthritis Diastrophic Aniridia, IKBKG syndrome PAX6 type_II CACNA1S syndrome dysplasia Neurological Optic_nerve Morning COL11A1 Medulloblastoma Branchiootic EYA1 Atrioventricular Ectodermal syndrome hypoplasia/aplasia glory Foveal KCNE1 Achondrogenesis_Ib Nutritional disc hypoplasia block LOR dysplasia SMED Rieger COL2A1 Strudwick_type syndrome anomaly 942 PITX2 FOXC1 126 Kniest Ophthamological Ring_dermoid PITX3 CPT 830 Bart-Pumphrey Cataract deficiency, KCNE2 Erythrokeratoderma 1586 Stickler dysplasia of_cornea syndrome syndrome Iridogoniodysgenesis hepatic Vohwinkel Psychiatric NKX2-5 syndrome GJB6 Iris_hypoplasia RYR1 KCNQ1 843 OSMED Enhanced Bothnia Alagille retinal Renal and_glaucoma Axenfeld Tetralogy GJB3 syndrome S-cone 1105 1104 anomaly CRYAB CPT2 syndrome GJB2 syndromedystrophy Butterfly Maculopathy, of_Fallot 845 COL11A2 bull’s-eye Respiratory Atrial Fechtner 549 dystrophy, Central_core 792 May-Hegglin syndrome retinal Self-healing disease fibrillation JAG1 Retinal_cone NR2E3 RLBP1 collodion_baby anomaly Epstein dsytrophy Skeletal 1518 Fundus KRT10 syndrome albipunctatus Macular Epidermolytic EBD Miyoshi VMD2 396 Toenail MYH9 NRL RDS dystrophy multiple dystrophy, myopathy Myopathy MYH7 Sebastian Vitelliform TGM1 isolated DYSF Becker MYH6 syndrome Night macular 434 MYF6 ELOVL4 1401 Myotilinopathy muscular Duchenne Deafness blindness ABCA4 Stargardt dystrophy Unclassified Ichthyosiform COL7A1 DES muscular MYO7A RHO erythroderma Ichthyosis 847 dystrophy disease KRT1 DSP Rippling_muscle dystrophy PCDH15 disease DMD PDE6B Retinitis 1229 STS MYOT EYA4 TIMM8A CRB1 Epidermolysis PLEC1 phosphokinase CDH23 Disorder Name 5233 144 Muscular Usher USH2A LAMA3 bullosa USH1C pigmentosa CRX 1545 868 CAV3 Mohr-Tranebjaerg COCH syndrome Cone Somatotrophinoma RYR2 Walker-Warburg FCMD dystrophy DSPP 18 Acampomelic campolelic dysplasia Ventricular syndrome TTN Cardiomyopathy syndromeJensen AIPL1 dystrophy Dentin MASS1 GUCY2D 26 -, type II McCune-Albright tachycardia POMT1 syndromeMeniere SLC26A4 syndrome SGCD PRKAG2 dysplasia, RPE65 53 Adrenal hyperplasia, congenital GRACILE disease type_II 77 Aldosterone to renin ratio raised GNAI2 syndrome Alexander Wolff-Parkinson-White Convulsions Menkes GNAS 1232 BCS1L disease TCAP Pendred 418 RPGR disease 87 Alpha-1-antichymotrypsin deficiency Osseous syndrome Leber RPGRIP1 TAZ Enlarged syndrome RP1 92 Alpha-thalassemia/mental retardation syndrome heteroplasia NDUFV1 vestibular Roussy-Levy 1016 COX15 Barth congenital_amaurosis 96 Alternating hemiplegia of childhood aqueduct ATP7A Occipital_horn 107 Analgesia from kappa-opioid receptor agonist, female-specific syndrome SDHA Leigh syndrome syndrome Acromegaly 117 Angiotensin I-converting enzyme 474 1113 Macular Cutis Dejerine-Sottas NDUFS4 syndrome Hemolytic-uremic FBLN5 laxa 126 Anterior segment anomalies and cataract syndrome degeneration Williams-Beuren disease PMP22 1297 LMNA 129 Anxiety-related personality traits PDHA1 CFH CNGB3 ELN syndrome 137 Apparent mineralocorticoid excess, hypertension due to Vertical GCSL 144 Arrhythmogenic right ventricular dysplasia EGR2 Achromatopsia talus Maple_syrup_urine Stroke Factor_x Hypertriglyceridemia Supravalvar_aortic 162 Athabaskan dysgenesis syndrome Neuropathy disease MPZ Rabson-Mendenhall deficiency stenosis 171 Attention-deficit hyperactivity disorder HOXD10 syndrome 182 Bannayan-Riley-Ruvalcaba syndrome 192 Beare-Stevenson cutis gyrata syndrome 913 HSPB1 Pelizaeus-Merzbacher Charcot-Marie-Tooth 1396 3212 Leprechaunism Nephropathy-hypertension 198 Beta-2-adrenoreceptor agonist, reduced response to ALOX5AP F7 disease Spastic_ataxia DCTN1 disease Apolipoprotein 210 Blepharophimosis, epicanthus inversus, and ptosis PLP1 INSR Hypoalphalipoproteinemia 217 Bone density variability /paraplegia Amyotrophic 1347 594 deficiency APOA2 ALS2 GARS BSCL2 KCNJ11 275 Carpal tunnel syndrome, familial Primary lateral HEXB Lipodystrophy Hypoglycemia 279 Cavernous malformations of CNS and retina APOA1 Hypercholesterolemia lateral_sclerosis sclerosis ABCC8 117 287 Central hypoventilation syndrome VAPB Spinal_muscular resistance Hyperproinsulinemia TCF2 Myocardial Corneal 292 Cerebrooculofacioskeletal syndrome atrophy SARS, 294 Cerebrovascular disease, occlusive 803 progression_of dystrophy APOB PAFAH1B1 Hyperinsulinism infarction 275 COL8A2 313 Cholesteryl ester storage disease FOXP3 Amyloidosis Hypobetalipoproteinemia INS THBD VSX1 558 320 Choreoathetosis, , and respiratory distress 1456 TTR 329 Chylomicronemia syndrome, familial Coumarin Squamous_cell Myeloperoxidase APOE Amyloid Nicotine Sea-blue_histiocyte FGA 344 Cold-induced autoinflammatory syndrome resistance CYP2A6 Non-Hodgkin carcinoma PPARG ACE deficiency Dysfibrinogenemia neuropathy Keratoconus addiction CHRNA4 mellitus disease Abetalipoproteinemia 347 Colonic aganglionosis, total, with small bowel involvement DCX LGI1 lymphoma GCK MPO 463 Infantile_spasm Epilepsy 377 357 Conotruncal anomaly face syndrome syndrome GABRG2 HNF4A Hyperproreninemia Afibrinogenemia 377 Craniofacial anomalies, empty sella turcica, corneal endothelial changes 2385 ACSL6 Glioblastoma MODY Hyperlipoproteinemia Myoclonic Myelodysplastic Renal FGB 378 Craniofacial-deafness-hand syndrome epilepsy KCNQ2 syndrome FAS IPF1 SLC2A2 REN tubular APP Hypofibrinogenemia 379 Craniofacial-skeletal-dermatologic dysplasia Coffin-Lowry SLC6A8 CACNB4 Myelogenous Alzheimer FGG ARX CASP10 dysgenesis 396 Cyclic ichthyosis with epidermolytic hyperkeratosis syndrome 1057 Androgen leukemia Autoimmune Pancreatic Thrombophilia insensitivity ENPP1 disease 418 Dentinogenesis imperfecta, Shields type RPS6KA3 Mental Macrocytic disease agenesis Fanconi-Bickel 137 422 Dermatofibrosarcoma protuberans Perineal syndrome RETN AGT F5 Hemorrhagic retardation IRF1 930 AGTR1 CBS diathesis 434 with woolly hair and Partington 438 Disordered steroidogenesis, isolated Gastric CASP8 HSD11B2 EPHX1 SERPINA1 Emphysema NLGN4X syndrome AR ERBB2 1153 Preeclampsia 439 Dissection of cervical arteries Asperger Proud 379 cancer Adenoma, Muir-Torre PTPN22 syndrome syndrome Apert Listeria periampullary syndrome TCF1 Hypercholanemia 441 Dopamine beta-hydroxylase deficiency syndrome 192 Nonsmall_cell Coronary Thrombocytopenia monocytogenes Ataxia-telangiectasia Obesity NOS3 452 Dyggve-Melchior-Clausen disease Saethre-Chotzen Desmoid lung_cancer Cafe-au-lait 198 spasms 453 Dysalbuminemic hyperthyroxinemia NLGN3 MECP2 syndrome Schizophrenia Autism SOX3 disease spots Placental 461 Dyssegmental dysplasia, Silverman-Handmaker type Pfeiffer KLF6 1183 ATM MSH2 Hypertension PRODH Wiskott-Aldrich FGD1 Adenomas Ovarian abruption syndrome 463 Dystransthyretinemic hyperthyroxinemia syndrome FGFR2 Gardner MLH1 ADRB2 NR3C2 WAS cancer Pilomatricoma Systemic_lupus Allergic PSEN1 471 Elite sprint athletic performance 809 Jackson-Weiss syndrome CDH1 BRCA1 rhinitis PPM-X Angelman APC Turcot erythematosus SCNN1B 474 Emery-Dreifuss muscular dystrophy syndrome CTNNB1 EGFR syndrome Rett syndrome MUTYH MAD1L1 Neuroectodermal syndrome AGRP Pick 527 Fatty , acute, of Leanness, IL13 Atherosclerosis Seasonal 535 Fibrocalculous pancreatic diabetes syndrome FGFR1 Crouzon PIK3CA tumors Rheumatoid disease Neutropenia Aarskog-Scott syndrome Prostate PMS2 Hepatic inherited arthritis Liddle affective_disorder 539 Fibular hypoplasia and complex syndrome RAD54B Adenocarcinoma SCNN1G syndrome HTR2A FCGR3A 544 Fluorouracil toxicity, sensitivity to RAD54L Alcohol MSX2 cancer T-cell adenoma IL10 545 Focal cortical dysplasia, Taylor balloon cell type Kallmann ALOX5 dependence MXI1 lymphoblastic ECE1 ELA2 549 Foveomacular dystrophy, adult-onset, with choroidal neovascularization syndrome Endometrial Breast Lymphoma Graft-versus-host Anorexia Viral Parietal carcinoma leukemia 558 Fuchs endothelial corneal dystrophy foramina Neurofibrosarcoma disease Asthma Supranuclear nervosa cancer BAX 584 Giant platelet disorder, isolated 1555 BRAF palsy 96 1096 MAPT 594 Glomerulocystic disease, hypoplastic PTEN BRIP1 Colon PDGFRL HIV PHF11 Hematopoiesis, 604 Glutathione synthetase deficiency 182 Obsessive-compulsive 1174 129 cyclic 626 Greig cephalopolysyndactyly syndrome 422 Lhermitte-Duclos Fanconi AXIN2 Neurofibromatosis NF1 Neurofibromatosis PLA2G7 ATP1A2 Estrogen disorder SLC6A4 646 Hearing loss, low-frequency sensorineural cancer IgE_levels resistance syndrome anemia BRCA2 QTL 1476 665 , systemic, due to MSH6 Li-Fraumeni 1140 TNF syndrome Watson Cerebral 679 High-molecular-weight kininogen deficiency Oligodendroglioma EP300 PARK2 Leprosy PDGFB FGFR3 CHEK2 Rubenstein-Taybi MET syndrome Migraine ESR1 amyloid 699 Homocystinuria-megaloblastic anemia, cbl E type Simpson-Golabi-Behmel Giant-cell Osteosarcoma Multiple Platelet SNCA 701 Homozygous 2p16 deletion syndrome fibroblastoma Meningioma HDL_cholesterol angiopathy syndrome 1490 syndrome Cancer malignancy RUNX1 defect/deficiency level_QTL 727 Hyperferritinemia-cataract syndrome GPC3 susceptibility Coronary XRCC3 TP53 syndrome BCL10 Sezary Sepsis BDNF ABCA1 733 Hyperkalemic periodic paralysis SLC22A18 FLCN syndrome Hirschsprung GDNF artery 734 Hyperkeratotic cutaneous capillary-venous malformations cancer Memory disease Denys-Drash Wilms Cervical Melanoma Mesothelioma CD36 disease 780 Hypoparathyroidism-retardation-dysmorphism syndrome syndrome tumor carcinoma KRAS CCND1 impairment Tangier 785 Hypoplastic enamel pitting, localized Cowden Atopy Mesangial disease NF2 Nijmegen_breakage Parkinson Malaria EDNRB disease 792 Hystrix-like ichthyosis with deafness sclerosis Histiocytoma CIITA 803 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked WT1 Birt-Hogg-Dube NBN syndrome 287 Schwannomatosis disease Waardenburg-Shah 809 Infundibular hypoplasia and hypopituitarism Frasier Pancreatic Stomach Adrenal_cortical syndrome 1239 Bare_lymphocyte EDN3 syndrome WAGR Rhabdomyosarcoma carcinoma Leukemia PCWH 830 Jervell and Lange-Nielsen syndrome syndrome cancer cancer TGFBR2 syndrome SPINK5 PHOX2B ABCD SOX10 833 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome NQO1 Benzene Germ_cell toxicity syndrome 843 Keratitis-ichthyosis-deafness syndrome syndrome 378 833 STK11 Nasopharyngeal Shah-Waardenburg BMPR1A carcinoma tumor DBH syndrome 845 Keratoderma, palmoplantar, with deafness PAX3 carcinoma TAP2 Netherton Neuroblastoma 1614 Renal_cell STAT5B RET 847 palmoplantaria striata SMAD4 Bladder Peutz-Jeghers syndrome MITF carcinoma LPP 868 Laryngoonychocutaneous syndrome cancer syndrome Multiple Aquaporin-1 891 Leukoencephalopathy with vanishing white matter Waardenburg Wegener GYPC von_Hippel-Lindau PTPN11 sclerosis granulomatosis deficiency 913 disease, progressive, without sensory symptoms syndrome Esophageal syndrome 441 Polyposis cancer GATA1 Growth AQP1 930 Lynch cancer family syndrome II HRAS hormone 347 942 Malignant hyperthermia susceptibility 3229 PRKAR1A RB1 CDKN2A Adult_i KIT Medullary_thyroid 945 with type B lipodystrophy Orolaryngeal Leopard Noonan Lipoma TBP Multiple phenotype Pyropoikilocytosis TYR carcinoma GCNT2 959 Mastocytosis with associated hematologic disorder Carney cancer syndromesyndrome PTPRC endocrine Loeys-Dietz Li group 969 Medullary complex neoplasia 982 with Myxoma, TSHR Retinoblastoma syndrome Fraumeni VHL Dyserythropoietic SPTA1 syndrome anemia 1001 adenosyltransferase deficiency, autosomal recessive intracardiac Costello Spherocytosis 1002 Methylcobalamin deficiency, cblG type Albinism MYH8 NTRK1 syndrome Macrothrombocytopenia HMGA2 1016 Mitochondrial complex deficiency Adrenocortical SLC4A1 Anemia carcinoma Carcinoid_tumor 1050 Myelomonocytic leukemia, chronic Hyperthroidism Polycythemia Mast_cell 1056 Myoglobinuria/hemolysis due to PGK deficiency 959 Salivary of_lung RHCE SPTB 1528 leukemia adenoma Huntington MEN1 1057 Myokymia with neonatal epilepsy Hemangioblastoma, Spinocereballar Adrenal Elliptocytosis 1080 Nephrogenic syndrome of inappropriate antidiuresis Hypothyroidism cerebellar disease Uterine ataxia Parathyroid adenoma Insensitivity 1090 Neural tube defects, maternal risk of Gastrointestinal adenoma 1267 1096 Neurofibromatosis- stromal leiomyoma to_pain Hemolytic Renal RHAG 1104 Nevus, epidermal, epidermolytic hyperkeratotic type JAK2 Pheochromocytoma tumor Angiofibroma, 1383 DCLRE1C tubular sporadic anemia 1105 Newfoundland rod-cone dystrophy TG CDC73 Rh-negative acidosis CTLA4 1263 PRNP 1113 Noncompaction of left ventricular myocardium RAG1 blood_type 1119 Norwalk virus infection, resistance to Goiter CACNA1A G6PD Rh-mod 1133 Oculofaciocardiodental syndrome Thyroid GSS syndrome TPO PDGFRA Creutzfeldt-Jakob RAG2 1140 Oligodontia-colorectal cancer syndrome hormone SDHB Insomnia 1153 Ossification of the posterior longitudinal spinal ligaments resistance Graves Myelofibrosis, SDHD disease Omenn PGK1 Autoimmune disease idiopathic Episodic IL2RG syndrome G6PD 1164 Osteoporosis-pseudoglioma syndrome thyroid ataxia Gerstmann-Straussler CASR Favism deficiency 1174 Pallidopontonigral degeneration disease 1183 Papillary serous carcinoma of the peritoneum Hyperthyroidism 3512 disease Thrombocythemia Hemiplegic_migraine, ADA familial 604 1056 1227 Pigmentation of hair, skin, and eyes, variation in Paragangliomas Hypereosinophilic Hypocalciuric 1229 Pigmented paravenous chorioretinal atrophy syndrome Cerebellar hypercalcemia Combined Adenosine_deaminase immunodeficiency deficiency 1232 Pituitary ACTH-secreting adenoma Merkel_cell ataxia 1238 Pneumonitis, desquamative interstitial Carcinoidcarcinoma tumors, 1239 Pneumothorax, primary spontaneous intestinal CP 1263 Prion disease with protracted course C6 1265 Progressive external ophthalmoplegia with mitochondrial DNA deletions 1267 Prolactinoma, hyperparathyroidism, carcinoid syndrome 665 1297 Pyruvate dehydrogenase deficiency 1325 Rhizomelic chondrodysplasia punctata Hypoceruloplasminemia 1335 , autosomal recessive Complement_component 1347 Sandhoff disease, infantile, juvenile, and adult forms deficiency 1361 Schwartz-Jampel syndrome, type 1 1376 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1383 Severe combined immunodeficiency 1396 Silver spastic paraplegia syndrome 1401 Skin fragility-woolly hair syndrome 1414 Solitary median maxillary central incisor 1432 Spondylocarpotarsal synostosis syndrome Frontometaphyseal Diabetes dysplasia CRASH Nonaka 584 1119 Microcephaly Hyperekplexia 461 1438 Stapes ankylosis syndrome without symphalangism H._pylori Smith-Fineman-Myers Amelogenesis syndrome myopathy Ceroid-lipofuscinosis , Restrictive insipidus Adrenocortical infection Tropical Rapp-Hodgkin syndrome Crohn 1265 OPN1MW 1446 Stevens-Johnson syndrome, carbamazepine-induced Adrenomyeloneuropathy calcific Situs imperfecta disease Melnick-Needles Ovarioleukodystrophy Hypoaldosteronism MASA GP1BB FUT2 Bosley-Salih-Alorainy hereditary dermopathy, insufficiency BCG Pseudohermaphroditism, syndrome Juberg-Marsidi ambiguus DLX3 syndrome syndrome Leiomyomatosis Agammaglobulinemia Hypohaptoglobinemia syndrome benign Guttmacher lethal 1456 Subcortical laminar heterotopia infection Synpolydactyly pancreatitis male CARD15 DiGeorge Sialuria GLRA1 535 Leydig ADULT syndrome Sutherland-Haan ENAM EIF2B2 Colorblindness Crigler-Najjar3037 Bombay PPT1 HSPG2 RAPADILINO syndrome 1466 Sweat chloride elevation without CF ABCD1 1335 syndrome Limb-mammary syndrome-like DNAH11 Trichodontoosseous FLNA EIF2B5 Blue-cone syndrome Orofacial cleft Bernard-Soulier phenotype HOXA1 MCPH1 TITF1 Greenberg AVPR2 Acrocapitofemoral cell Blau POLG syndrome GNE BTK syndrome Ceroid Startle dysplasia syndrome NR5A1 IFNGR1 HPFH syndrome syndrome 785 EIF2B4 monochromacy van_der_Woude 1475 Tarsal-carpal coalition syndrome HOXD13 dysplasia SPINK1 adenoma syndrome Heterotopia CYP11B2 L1CAM Hyperbilirubinemia 294 overload/deficiency lipofuscinosis Basal disease LHCGR Hay-Wells ATRX Psoraisis Alpers Velocardiofacial FH syndrome HP ganglia 3260 320 HOXA13 1476 and respiratory failure Precocious syndrome TP73L Kartagener Otopalatodigital syndrome OPN1LW syndrome Inclusion IRF6 1611 Analbuminemia Neurodegeneration 162 disease Weyers ZMPSTE24 ROR2 IHH syndrome Bethlem 891 UGT1A1 18 LBR 1361 RECQL4 1080 1490 , types I and II Mycobacterial puberty, Chudley-Lowry myopathy Sarcoidosis syndrome Low renin 1376 body SERPINA3 acrodental Sex infection Sickle Pancreatitis male hypertension 77 myopathy TF Hand-foot-uterus reversal 1518 Transient bullous of the newborn cell Brachydactyly EEC syndrome syndrome COL6A1 TBX1 Fumarase Popliteal FTL dysostosis Tuberculosis Adrenoleukodystrophy 92 Anhaptoglobinemia PANK2 SOX9 Pelger-Huet syndrome 945 1519 Transposition of great arteries, dextro-looped anemia Hypertrypsinemia Split-hand/foot DNAH5 COL6A3 Hemangioma deficiency pterygium Fish-eye ALB Rothmund-Thomson HBB Hypogonadotropic malformation DNAI1 Ewing Palmoplantar Abacavir 734 Hydrocephalus Gilbert Opremazole syndrome disease Tall anomaly syndrome 1133 1526 Trifunctional protein deficiency hypogonadism COL6A2 keratoderma 171 357 87 HARP stature 727 EVC STAT1 CFTR sarcoma hypersensitivity syndrome poor metabolizer Campomelic Hypophosphatemic 2327 Kenny-Caffey 1528 Trismus-pseudocomptodactyly syndrome Methemoglobinemia GDF5 Cystic 1227 1565 1446 279 Plasminogen syndrome 3144 IFNG 1466 Hemophilia Ciliary FLT4 KRT16 679 deficiency Cleidocranial dysplasia Alpha-actinin-3 syndrome-1 1542 Ullrich congenital muscular dystrophy PEX10 Chondrodysplasia, fibrosis 1542 EWSR1 DRD5 CYP2C19 LCAT 453 deficiency BCOR Erythremias Acromesomelic Grebe SLC45A2 dyskinesia HLA-B Kininogen Periodontitis Craniometaphyseal dysplasia WHIM 1545 Unna-Thost disease, nonepidermolytic STAT1 PEX5 dysplasia type 2354 GNRHR VKORC1 F9 deficiency Proguanil PLG MCM6 dysplasia Ellis- FGF23 syndrome TBCE deficiency PEX13 Pachyonychia CINCA poor metabolizerNorum Wolman van Creveld Smith-McCort MBL2 PAX2 1555 VATER association with hydrocephalus Ocular Acrocallosal Lymphedema Ankylosing Hypophosphatasia dysplasia Aplastic AIDS PEX1 PEX26 Fertile syndrome Chondrosarcoma congenita KRIT1 syndrome KNG1 disease disease syndromeRUNX2 ACTN3 anemia 539 Trichothiodystrophy eunuch albinism spoldylitis CTSC Mephenytoin Conjunctivitis, ANKH Paget Microphthalmia 1565 Vitamin K-dependent coagulation defect Heinz HBA1 Dosage-sensitive 1580 Tay-Sachs poor metabolizer MAT1A ligneous Hypolactasia, CXCR4 Renal Zellweger body syndrome disease GLI3 FOXC2 adult disease , Meningococcal 780 hypoplasia, 1580 Warfarin resistance/sensitivity sex Red hair/MC1R Hex_A Fitzgerald factor Buschke-Ollendorff ALPL Wolfram DYM disease syndrome anemia reversal ERCC3 pseudodeficiency Pallister-Hall KRT17 Ovarian CIAS1 Haim-Munk LIPA type syndrome Dental tumoral 471 isolated 1586 Weissenbacher-Zweymuller syndrome TERC fair skin 107 CYP2C9 4291 deficiency syndrome 1001 Alopecia Hyalinosis, Tuberous Hyperandrogenism ERCC2 1002 syndrome EXT1 Yellow dysgenesis syndrome Debrisoquine Chondrocalcinosis anomalies, infantile 1611 XLA and isolated growth hormone deficiency Aldosteronism Down UV-induced 626 nail 5170 Osteopoikilosis isolated TNFRSF11A Myelokathexis, universalis sclerosis syndrome Tolbutamide Steatocystoma Hyperprothrombinemia sensitivity Coproporphyria Mevalonicaciduria isolated systemic 1614 Yemenite deaf-blind hypopigmentation syndrome Thalassemias Xeroderma 699 skin damage poor HEXA syndrome multiplex 344 Papillon-Lefevre HPRT-related 701 Septooptic PXMP3 NR0B1 Exostoses FSHR Odontohypophosphatasia WFS1 452 McKusick-Kaufman dysplasia 2327 Chronic , due to opsonin defect Dyskeratosis pigmentosum metabolizer Lowe Lead Beckwith-Wiedemann Hypoprothrombinemia syndrome LEMD3 Sialidosis gout 313 Resting HR HBA2 MTR syndrome Ovarian Muckle-Wells CYP2D6 heart syndrome 2354 Congenital bilateral absence of vas deferens CYP21A2 MTRR Spondylometaphyseal Cartilage-hair Leri-Weill poisoning syndrome syndrome CPOX MVK rate SLC3A1 Virilization ANTXR2 dysplasia hypoplasia GM-gangliosidosis dyschondrosteosis Langer sex cord F2 982 HPRT1 Osteolysis Nemaline 2385 Creatine deficiency syndrome, X-linked TSC2 TSC1 ERCC5 OCRL ALAD Twinning, tumors Anderson myopathy Atrichia w/ CYP11B1 mesomelic 1526 Nephronophthisis dizygotic Longevity Metachromatic SLC17A5 Codeine 646 210 papular lesions HESX1 DKC1 Refsum Hypochromic COL10A1 RMRP dysplasia 1519 leukodystrophy Lesch-Nyhan disease ADRB1 2785 Hypoplastic left heart syndrome microcytic 292 Spina SHOX 329 syndrome, sensitivity Hyper-IgD Hematuria, MKKS CYP19A1 Fibromatosisl disease 53 GLB1 NSD1 Hyperalphalipoproteinemia 1238 Salla Harderoporphyrinuriasyndrome 3037 Multiple cutaneous and uterine leiomyomata anemia bifida Metaphyseal Dent Porphyria Dysprothrombinemia disease familial_benign 1050 Lymphangioleiomyomatosis Erythrocytosis disease 1438 Weaver Combined Double-outlet Thymine-uraciluria Darier 3144 Optic nerve coloboma with renal disease ERCC6 chondrodysplasia Short HADHA NPHP4 Synostoses hyperlipemia right ventricle SFTPC Hyperphenylalaninemia FOXL2 TPM2 disease LIG4 PEX7 stature NPHP1 syndrome CETP PSAP Cholelithiasis Congestive Premature Aromatase syndrome 3212 Persistent hyperinsulinemic hypoglycemia of infancy Hoyeraal-Hreidarsson Hemoglobi_H Mucopolysaccharidosis syndrome CFC1 Schindler SAR1B COL4A4 heart deficiency Pituitary 545 MTHFD1 PTHR1 CLCN5 LCHAD LPL Combined disease Homocysteine 969 ovarian PDGFRB 3229 Pigmented adrenocortical disease, primary isolated syndrome disease POR 527 HFE NOG Sotos Pulmonary PAH plasma ABCB4 failure failure Bardet-Biedl ATP2A2 LIG4 hormone De Sanctis-Cacchione Nephrolithiasis GHR deficiency Senior-Loken SAP deficiency fibrosis DPYD Chylomicron 3260 Premature chromosome condensation w/ microcephaly, mental retardation 1325 Antley-Bixler syndrome CETP Lipoprotein NAGA level UMOD syndrome deficiency syndrome 1475 Heterotaxy Gaucher Surfactant retention Myeloproliferative syndrome 438 syndrome 1090 Proteinuria Laron HELLP Joubert deficiency lipase CTH Alport disorder Multiple 3512 Total iodide organification defect syndrome Hemochromatosis Symphalangism, deficiency disease deficiency disease Cholestasis syndrome Acrokeratosis syndrome proximal Kanzaki 544 Hyperuricemic verruciformis myeloma 3558 Ventricular fibrillation, idiopathic disease Cystathioninuria nephropathy 4291 Cerebral cavernous malformations 5170 Ovarian hyperstimulation syndrome 5233 Placental steroid sulfatase deficiency

Supporting Information Figure 13 | Bipartite-graph representation of the diseasome. A disorder (circle) and a (rectangle) are connected if the gene is implicated in the disorder. The size of the circle represents the number of distinct associated with the disorder. Isolated disorders (disorders having no links to other disorders) are not shown. Also, only genes connecting disorders are shown.