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 Coats Osteopetrosis disease Caffey Exudative disease vitreoretinopathy Norrie 439 disease Nevo Hyperostosis, syndrome endosteal 217 Oligodontia Osteogenesis Osteoporosis Ehlers-Danlos imperfecta syndrome Arthropathy Hypodontia Myasthenic 733 syndrome Heart 3-methylglutaconicaciduria Optic Marfan block atrophy Aortic syndrome aneurysm Intervertebral_disc Brugada disease Glaucoma syndrome Cramps, Cleft potassium-aggravated Myotonia palate congenita Oculodentodigital MASS Hypokalemic Acquired dysplasia long_QT_syndrome Epiphyseal Keratitis Eye syndrome periodic Ectopia paralysis dysplasia Atelosteogenesis Capillary Basal_cell anomalies Marshall Larson Holoprosencephaly Coloboma, malformations Incontinentia syndrome syndrome carcinoma ocular pigmenti 26 Aniridia, Long_QT Osteoarthritis Diastrophic type_II syndrome dysplasia Medulloblastoma Branchiootic Morning Atrioventricular syndrome glory Foveal Ectodermal Achondrogenesis_Ib disc hypoplasia block dysplasia anomaly 942 126 CPT Kniest 830 Bart-Pumphrey Cataract deficiency, syndrome Erythrokeratoderma dysplasia Iridogoniodysgenesis hepatic Iris_hypoplasia 843 OSMED Enhanced Bothnia and_glaucoma Axenfeld Alagille syndrome S-cone retinal 1105 1104 anomaly syndrome syndromedystrophy Butterfly Maculopathy, 845 Atrial Fechtner 549 dystrophy, bull’s-eye retinal fibrillation 792 May-Hegglin syndrome anomaly Epstein Fundus Epidermolytic EBD syndrome albipunctatus Miyoshi hyperkeratosis 396 myopathy Myopathy 434 Becker Night muscular Duchenne Deafness Ichthyosiform Myotilinopathy blindness dystrophy muscular erythroderma Ichthyosis 847 Creatine dystrophy Epidermolysis phosphokinase 144 bullosa Muscular 868 dystrophy Mohr-Tranebjaerg Cone Cardiomyopathy syndromeJensen dystrophy McCune-Albright syndrome Dentin Meniere syndrome dysplasia, GRACILE Alexander disease type_II syndrome Convulsions Menkes disease 418 disease Osseous Enlarged Leber heteroplasia 1016 vestibular congenital_amaurosis Barth aqueduct Occipital_horn Leigh syndrome syndrome Acromegaly 474 Macular Cutis Dejerine-Sottas syndrome 1113 Hemolytic-uremic laxa disease syndrome degeneration Maple_syrup_urine Achromatopsia Neuropathy Factor_x Hypertriglyceridemia disease deficiency 913 Charcot-Marie-Tooth Leprechaunism Nephropathy-hypertension disease Apolipoprotein Hypoalphalipoproteinemia Amyotrophic 594 deficiency lateral Lipodystrophy Hypoglycemia Hypercholesterolemia sclerosis Insulin 117 resistance Hyperproinsulinemia Myocardial Corneal 803 Hyperinsulinism infarction dystrophy 275 Amyloidosis 558 Hypobetalipoproteinemia Diabetes Coumarin Amyloid Lissencephaly Nicotine Myeloperoxidase resistance mellitus Dysfibrinogenemia neuropathy addiction Non-Hodgkin deficiency Keratoconus Abetalipoproteinemia Infantile_spasm lymphoma 463 Epilepsy 377 syndrome Hyperproreninemia Glioblastoma Afibrinogenemia MODY Myoclonic Myelodysplastic Hyperlipoproteinemia epilepsy syndrome Hypofibrinogenemia Coffin-Lowry Myelogenous Alzheimer syndrome 1057 Androgen leukemia Autoimmune Mental insensitivity Macrocytic 137 disease disease Fanconi-Bickel Ataxia anemia syndrome Hemorrhagic retardation 930 diathesis Gastric 1153 Emphysema Asperger Adenoma, syndrome Apert 379 cancer Muir-Torre periampullary syndrome 192 Listeria syndrome Hypercholanemia Homocystinuria monocytogenes Nonsmall_cell Desmoid Ataxia-telangiectasia Obesity lung_cancer Cafe-au-lait 198 Autism disease spots Hypertension Adenomas Gardner Allergic Hyperprolinemia syndrome Angelman 809 Jackson-Weiss rhinitis syndrome syndrome Neuroectodermal Crouzon tumors Leanness, Atherosclerosis Aarskog-Scott Craniosynostosis syndrome Hepatic inherited Liddle Neutropenia syndrome Adenocarcinoma syndrome adenoma Alcohol Kallmann dependence syndrome Endometrial Breast Lymphoma Graft-versus-host Anorexia Neurofibrosarcoma carcinoma disease cancer Asthma nervosa Dementia 96 Colon 1096 HIV 182 Hematopoiesis, Obsessive-compulsive 129 cyclic 422 Lhermitte-Duclos Fanconi cancer Neurofibromatosis Neurofibromatosis Estrogen IgE_levels disorder syndrome anemia resistance Li-Fraumeni QTL 1140 syndrome Leprosy Cerebral Oligodendroglioma Giant-cell Migraine amyloid fibroblastoma Meningioma Muenke HDL_cholesterol Cancer angiopathy syndrome level_QTL susceptibility Coronary Hypochondroplasia Lung Hirschsprung artery Achondroplasia Denys-Drash Cervical cancer Melanoma disease Memory disease Mesothelioma syndrome Cowden carcinoma impairment Mesangial disease Nijmegen_breakage Atopy Histiocytoma Malaria sclerosis Birt-Hogg-Dube syndrome 287 Frasier syndrome Leukemia Bare_lymphocyte syndrome Benzene syndrome ABCD Germ_cell toxicity syndrome 378 833 Nasopharyngeal carcinoma tumor Netherton Neuroblastoma Bladder syndrome cancer Aquaporin-1 Esophageal 441 deficiency cancer Growth hormone 347 Adult_i Blood Orolaryngeal Leopard Noonan Lipoma Multiple phenotype Carney cancer syndrome syndrome endocrine Li group complex Loeys-Dietz neoplasia Myxoma, syndrome Fraumeni Dyserythropoietic intracardiac syndrome anemia Albinism Costello syndrome Macrothrombocytopenia Adrenocortical Anemia carcinoma Hyperthroidism 959 Mast_cell leukemia Hemangioblastoma, Huntington Elliptocytosis Hypothyroidism cerebellar disease Gastrointestinal Insensitivity stromal to_pain Hemolytic tumor Angiofibroma, anemia sporadic Hyperparathyroidism Goiter Creutzfeldt-Jakob Graves disease Insomnia Myelofibrosis, Omenn disease idiopathic Episodic syndrome G6PD ataxia Gerstmann-Straussler Favism deficiency Hemiplegic_migraine, disease Hyperthyroidism familial 604 Hypereosinophilic Hypocalciuric 1056 syndrome Cerebellar hypercalcemia Adenosine_deaminase Merkel_cell ataxia deficiency Carcinoidcarcinoma Hypocalcemia tumors, intestinal 1164 Urolithiasise van_Buchem NDP disease SLC34A1 LRP5 COL1A1 PLOD1 PAX9 Aneurysm, COL3A1 COL1A2 familial_arterial Witkop syndrome OPA3 Pseudoachondroplasia WISP3 MSX1 OPA1 Paramyotonia Sick_sinus congenita syndrome 3558 SCN4A Syndactyly Spondyloepiphyseal COMP Weill-Marchesani Shprintzen-Goldberg COL9A2 dysplasia syndrome syndrome SCN5A Zlotogora-Ogur 2785 syndrome Parkes_Weber Basal_cell FBN1 COL9A3 1432 syndrome 1414 CYP1B1 nevus_syndrome Peters FLNB RASA1 PTCH anomaly Thyrotoxic MATN3 SHH periodic KCNH2 PVRL1 paralysis GJA1 SLC26A2 PTCH2 Wagner PAX6 IKBKG syndrome CACNA1S Optic_nerve COL11A1 EYA1 hypoplasia/aplasia KCNE1 Rieger LOR SMED COL2A1 Strudwick_type syndrome PITX2 FOXC1 Ring_dermoid PITX3 of_cornea KCNE2 1586 Stickler syndrome Vohwinkel NKX2-5 syndrome GJB6 RYR1 KCNQ1 Tetralogy GJB3 CRYAB CPT2 of_Fallot GJB2 COL11A2 Central_core Self-healing disease Retinal_cone collodion_baby J<strong>AG</strong>1 NR2E3 RLBP1 dsytrophy KRT10 1518 Macular VMD2 Toenail Sebastian dystrophy dystrophy, MYH7 MYH9 NRL RDS Vitelliform TGM1 isolated DYSF MYH6 syndrome MYF6 macular 1401 ELOVL4 Stargardt dystrophy COL7A1 ABCA4 DES MYO7A RHO Rippling_muscle disease KRT1 DSP disease DMD PCDH15 Retinitis 1229 STS MYOT PDE6B EYA4 TIMM8A CRB1 5233 PLEC1 CDH23 Usher USH2A pigmentosa LAMA3 1545 CAV3 COCH USH1C syndrome CRX Somatotrophinoma RYR2 Walker-Warburg FCMD DSPP Ventricular syndrome TTN AIPL1 tachycardia SLC26A4 MASS1 POMT1 GUCY2D SGCD PRK<strong>AG</strong>2 RPE65 GNAI2 1232 Wolff-Parkinson-White GNAS BCS1L TCAP syndrome Pendred RPGR syndrome RPGRIP1 TAZ NDUFV1 RP1 Roussy-Levy COX15 ATP7A syndrome SDHA NDUFS4 FBLN5 Williams-Beuren Pseudohypoparathyroidism PMP22 1297 LMNA PDHA1 CFH CNGB3 ELN syndrome EGR2 Vertical GCSL talus Stroke Supravalvar_aortic MPZ Rabson-Mendenhall stenosis HOXD10 syndrome HSPB1 Pelizaeus-Merzbacher 1396 3212 disease ALOX5AP F7 PLP1 Spastic_ataxia DCTN1 /paraplegia 1347 INSR APOA2 ALS2 GARS BSCL2 KCNJ11 Primary HEXB lateral_sclerosis APOA1 VAPB ABCC8 Spinal_muscular TCF2 atrophy SARS, progression_of APOB PAFAH1B1 COL8A2 FOXP3 1456 INS THBD TTR VSX1 Squamous_cell APOE carcinoma Sea-blue_histiocyte FGA CYP2A6 PPARG CHRNA4 ACE DCX LGI1 GCK disease MPO 2385 GABRG2 ACSL6 HNF4A Renal FGB KCNQ2 FAS IPF1 tubular APP CACNB4 REN SLC6A8 SLC2A2 ARX dysgenesis FGG CASP10 Pancreatic Thrombophilia ENPP1 RPS6KA3 agenesis Perineal RETN <strong>AG</strong>TR1 <strong>AG</strong>T F5 Partington IRF1 CBS hypospadias syndrome AR ERBB2 CASP8 HSD11B2 Preeclampsia EPHX1 SERPINA1 NLGN4X Proud PTPN22 syndrome TCF1 Coronary Thrombocytopenia Saethre-Chotzen NOS3 spasms NLGN3 MECP2 syndrome Schizophrenia SOX3 Pfeiffer 1183 Placental KLF6 ATM Wiskott-Aldrich FGD1 Ovarian MSH2 abruption PRODH syndrome FGFR2 ADRB2 syndrome CDH1 cancer MLH1 NR3C2 WAS Pilomatricoma Systemic_lupus PSEN1 PPM-X BRCA1 APC Turcot CTNNB1 erythematosus SCNN1B Pseudohypoaldosteronism syndrome Rett MUTYH MAD1L1 syndrome EGFR <strong>AG</strong>RP Pick syndrome FGFR1 Rheumatoid IL13 disease Seasonal PIK3CA Prostate PMS2 arthritis affective_disorder SCNN1G FCGR3A RAD54L RAD54B HTR2A MSX2 cancer T-cell IL10 ALOX5 MXI1 lymphoblastic ECE1 ELA2 Parietal leukemia Viral foramina Supranuclear infection 1555 BAX BRAF palsy MAPT PTEN BRIP1 PDGFRL PHF11 AXIN2 1174 NF1 PLA2G7 ATP1A2 SLC6A4 BRCA2 1476 MSH6 TNF EP300 Watson PDGFB FGFR3 CHEK2 Rubenstein-Taybi MET syndrome PARK2 ESR1 Simpson-Golabi-Behmel Osteosarcoma Multiple Platelet syndrome SNCA syndrome 1490 malignancy RUNX1 defect/deficiency GPC3 XRCC3 TP53 syndrome BCL10 Sezary Sepsis BDNF ABCA1 SLC22A18 FLCN syndrome GDNF Wilms CD36 tumor KRAS CCND1 Tangier NF2 Parkinson EDNRB disease CIITA WT1 NBN Schwannomatosis Pancreatic disease Waardenburg-Shah Stomach Adrenal_cortical W<strong>AG</strong>R 1239 EDN3 syndrome Rhabdomyosarcoma cancer cancer carcinoma PCWH Tietz syndrome TGFBR2 SPINK5 PHOX2B SOX10 Thyroid NQO1 syndrome Shah-Waardenburg BMPR1A carcinoma STK11 DBH syndrome PAX3 Renal_cell TAP2 1614 RET SMAD4 Peutz-Jeghers STAT5B MITF syndrome carcinoma LPP Waardenburg Multiple Wegener von_Hippel-Lindau syndrome PTPN11 sclerosis granulomatosis GYPC syndrome Polyposis GATA1 AQP1 HRAS 3229 PRKAR1A RB1 CDKN2A KIT Medullary_thyroid TYR TBP carcinoma Pyropoikilocytosis PTPRC GCNT2 TSHR Retinoblastoma VHL SPTA1 Spherocytosis MYH8 NTRK1 Piebaldism HMGA2 SLC4A1 Polycythemia Carcinoid_tumor Salivary of_lung RHCE 1528 adenoma MEN1 SPTB Spinocereballar Adrenal Uterine ataxia Parathyroid adenoma leiomyoma adenoma 1267 Renal JAK2 Pheochromocytoma 1383 tubular RH<strong>AG</strong> DCLRE1C TG CDC73 1263 Rh-negative acidosis CTLA4 PRNP R<strong>AG</strong>1 blood_type CACNA1A G6PD Rh-mod Thyroid GSS syndrome hormone TPO PDGFRA R<strong>AG</strong>2 SDHB resistance SDHD PGK1 Autoimmune IL2RG thyroid CASR 3512 disease Thrombocythemia ADA Paragangliomas Combined immunodeficiency CP C6 665 Hypoceruloplasminemia Complement_component deficiency Frontometaphyseal Amelogenesis dysplasia CRASH Nonaka H._pylori 584 1119 461 Diabetes Smith-Fineman-Myers Ceroid-lipofuscinosis Microcephaly Hyperekplexia syndrome Chorea, infection Crohn Adrenomyeloneuropathy imperfecta 1265 myopathy Restrictive insipidus Tropical Adrenocortical Rapp-Hodgkin syndrome disease Melnick-Needles Hypoaldosteronism OPN1MW BCG calcific Ovarioleukodystrophy MASA Agammaglobulinemia Bosley-Salih-Alorainy hereditary Pseudohermaphroditism, syndrome Situs GP1BB FUT2 dermopathy, insufficiency infection Synpolydactyly Juberg-Marsidi Leiomyomatosis pancreatitis ambiguus DLX3 syndrome syndrome benign ADULT Colorblindness DiGeorge syndrome Hypohaptoglobinemia Guttmacher 535 male Sialuria syndrome Acrocapitofemoral syndrome Blue-cone Bernard-Soulier Bombay GLRA1 lethal Leydig Sutherland-Haan ENAM CARD15 EIF2B2 syndrome Crigler-Najjar3037 syndrome Blau syndrome syndrome phenotype Greenberg cell Limb-mammary Orofacial cleft PPT1 RAPADILINO ABCD1 1335 Micropenis syndrome-like DNAH11 Trichodontoosseous FLNA EIF2B5 dysplasia monochromacy Iron HOXA1 HSPG2 Ceroid dysplasia syndrome HPFH adenoma syndrome syndrome POLG GNE MCPH1 BTK TITF1 Startle AVPR2 IFNGR1 NR5A1 HOXD13 SPINK1 785 syndrome EIF2B4 294 lipofuscinosis Hay-Wells Heterotopia CYP11B2 van_der_Woude Alpers Hyperbilirubinemia overload/deficiency Basal disease ATRX 320 syndrome Kartagener Psoraisis Velocardiofacial L1CAM LHCGR FH syndrome ganglia 3260 HOXA13 Precocious Bethlem Otopalatodigital syndrome Analbuminemia 162 syndrome 891 syndrome Inclusion IRF6 HP 1611 Neurodegeneration disease Mycobacterial ROR2 IHH TP73L OPN1LW Weyers ZMPSTE24 puberty, 18 Chudley-Lowry myopathy syndrome Low renin 1361 1080 77 body infection Adrenoleukodystrophy Brachydactyly Pancreatitis male Sarcoidosis EEC syndrome syndrome hypertension 1376 UGT1A1 Sickle acrodental LBR RECQL4 92 Fumarase myopathy SERPINA3 Sex Hand-foot-uterus reversal Tuberculosis cell COL6A1 TBX1 TF Popliteal FTL dysostosis deficiency Anhaptoglobinemia syndrome anemia PANK2 945 Hypertrypsinemia Split-hand/foot DNAH5 Hemangioma pterygium Fish-eye SOX9 Pelger-Huet Hypogonadotropic Ewing Palmoplantar Abacavir 171 734 Hydrocephalus Atransferrinemia sarcoma hypersensitivity 357 Gilbert Opremazole disease anomaly Rothmund-Thomson HBB malformation DNAI1 COL6A3 ALB syndrome Tall syndrome 87 HARP 727 syndrome 1133 CFTR hypogonadism COL6A2 keratoderma poor metabolizer stature EVC STAT1 279 Campomelic Hypophosphatemic Methemoglobinemia Cystic syndrome Kenny-Caffey 1227 1565 1446 Ciliary Cleidocranial dysplasia Alpha-actinin-3 fibrosis Hemophilia 679 Plasminogen rickets 2327 IFNG GDF5 syndrome-1 3144 Chondrodysplasia, 1466 1542 FLT4 PEX10 KRT16 Erythremias Acromesomelic dyskinesia Kininogen 453 deficiency Grebe EWSR1 DRD5 Periodontitis CYP2C19 LCAT Craniometaphyseal dysplasia deficiency WHIM BCOR STAT1 SLC45A2 HLA-B PEX5 dysplasia deficiency Proguanil dysplasia Ellis- syndrome deficiency PEX13 type 2354 GNRHR VKORC1 F9 AIDS Acrocallosal Lymphedema Blepharospasm CINCA Hypermethioninemia van Creveld Aplastic Fertile Ocular Pachyonychia poor metabolizerNorum Wolman PLG MCM6 Smith-McCort FGF23 MBL2 TBCE PAX2 syndrome Chondrosarcoma Ankylosing syndrome Hypophosphatasia anemia 539 spoldylitis Conjunctivitis, syndrome Heinz eunuch albinism congenita Mephenytoin disease dysplasia PEX1 PEX26 KRIT1 KNG1 disease ACTN3 Trichothiodystrophy body Dosage-sensitive syndrome ligneous Hypolactasia, Microphthalmia 1580 Tay-Sachs CTSC RUNX2 Paget Zellweger HBA1 sex Hex_A Dystonia poor metabolizer MAT1A ANKH Renal disease FOXC2 adult disease Calcinosis, CXCR4 GLI3 Meningococcal 780 anemia Red hair/ Fitzgerald factor Buschke-Ollendorff Wolfram hypoplasia, syndrome reversal ERCC3 MC1R ALPL tumoral 107 pseudodeficiency Pallister-Hall deficiency Haim-Munk type DYM Dental 471 disease fair skin KRT17 Ovarian syndrome syndrome 1001 Alopecia Aldosteronism Debrisoquine Chondrocalcinosis anomalies, Hyalinosis, Hyperandrogenism Down 1002 syndrome 4291 CIAS1 syndrome isolated TERC LIPA Tuberous ERCC2 CYP2C9 626 sensitivity isolated universalis infantile syndrome Hyperprothrombinemia Osteopoikilosis 699 Coproporphyria Mevalonicaciduria Myelokathexis, sclerosis UV-induced EXT1 Yellow dysgenesis Tolbutamide nail Polydactyly Steatocystoma 5170 TNFRSF11A Exostoses 344 HPRT-related 701 isolated systemic Thalassemias Xeroderma skin damage poor syndrome NR0B1 HEXA multiplex Papillon-Lefevre Septooptic 452 Dyskeratosis PXMP3 metabolizer Lowe FSHR Lead Beckwith-Wiedemann Hypoprothrombinemia syndrome Sialidosis gout 313Odontohypophosphatasia Resting McKusick-Kaufman pigmentosum LEMD3 WFS1 HR dysplasia HBA2 Cartilage-hair syndrome syndrome Spondylometaphyseal Leri-Weill poisoning Ovarian syndrome Muckle-Wells CYP2D6 heart CYP21A2 MTR MTRR dysplasia hypoplasia GM-gangliosidosis dyschondrosteosis Langer syndrome 982 rate Osteolysis Nemaline Virilization sex cord CPOX F2 HPRT1 MVK SLC3A1 ANTXR2 TSC2 TSC1 CYP11B1 ERCC5 OCRL mesomelic ALAD Nephronophthisis Twinning, tumors Anderson Atrichia w/ Longevity myopathy Metachromatic Codeine disease 646 Hypochromic 210 Refsum COL10A1 dysplasia 1526 dizygotic papular lesions microcytic 53 292 329 1519 SLC17A5 HESX1 DKC1 RMRP leukodystrophy Lesch-Nyhan sensitivity ADRB1 disease Spina SHOX Hyperalphalipoproteinemia syndrome, Harderoporphyrinuria Hyper-IgD Hematuria, MKKS Fibromatosisl anemia Dent GLB1 Cystinuria Erythrocytosis disease Double-outlet Dysprothrombinemia 1238 Salla CYP19A1 bifida syndrome familial_benign Lymphangioleiomyomatosis Metaphyseal Porphyria NSD1 1438 disease Darier 1050 chondrodysplasia Short Weaver Combined ERCC6 HADHA NPHP4 Synostoses right ventricle HyperphenylalaninemiaThymine-uraciluria Cholelithiasis Congestive Aromatase disease LIG4 syndrome Hoyeraal-Hreidarsson 545 Hemoglobi_H Mucopolysaccharidosis stature syndrome hyperlipemia FOXL2 PEX7 NPHP1 syndrome CETP PSAP SFTPC TPM2 Schindler heart Premature deficiency disease Homocysteine syndrome MTHFD1 PTHR1 LCHAD CFC1 SAR1B failure 969 ovarian De Sanctis-Cacchione deficiency 527 Pulmonary disease COL4A4 Pituitary CLCN5 HFE plasma Bardet-Biedl Nephrolithiasis Sotos LPL Combined PDGFRB POR NOG PAH failure hormone 1325 Antley-Bixler Senior-Loken syndrome Cockayne syndrome SAP deficiency ATP2A2 LIG4 GHR CETP Lipoprotein fibrosis level DPYD ABCB4 Chylomicron syndrome deficiency syndrome 438 syndrome 1090 Enchondromatosis Laron syndrome Heterotaxy HELLP deficiency Gaucher retention Alport dwarfism syndrome Hemochromatosis Joubert lipase Myeloproliferative Proteinuria 1475 Surfactant N<strong>AG</strong>A UMOD Symphalangism, disease disease Cholestasis syndrome Arthrogryposis Acrokeratosis Hypophosphatemia syndrome deficiency deficiency CTH disorder Multiple proximal Kanzaki Phenylketonuria 544 Hyperuricemic Cystathioninuria nephropathy verruciformis myeloma disease Supporting Information Figure 13 | Bipartite-graph re<strong>presentation</strong> of the diseasome. A disorder (circle) and a gene (rectangle) are connected if the gene is implicated in the disorder. The size of the circle represents the number of distinct genes associated with the disorder. Isolated disorders (disorders having no links to other disorders) are not shown. Also, only genes connecting disorders are shown. Disorder Class Bone Cancer Cardiovascular Connective tissue disorder Dermatological Developmental Ear, Nose, Throat Endocrine Gastrointestinal Hematological Immunological Metabolic Muscular Neurological Nutritional Ophthamological Psychiatric Renal Respiratory Skeletal multiple Unclassified Disorder Name 18 Acampomelic campolelic dysplasia 26 Achondrogenesis-hypochondrogenesis, type II 53 Adrenal hyperplasia, congenital 77 Aldosterone to renin ratio raised 87 Alpha-1-antichymotrypsin deficiency 92 Alpha-thalassemia/mental retardation syndrome 96 Alternating hemiplegia of childhood 107 Analgesia from kappa-opioid receptor agonist, female-specific 117 Angiotensin I-converting enzyme 126 Anterior segment anomalies and cataract 129 Anxiety-related personality traits 137 Apparent mineralocorticoid excess, hypertension due to 144 Arrhythmogenic right ventricular dysplasia 162 Athabaskan brainstem dysgenesis syndrome 171 Attention-deficit hyperactivity disorder 182 Bannayan-Riley-Ruvalcaba syndrome 192 Beare-Stevenson cutis gyrata syndrome 198 Beta-2-adrenoreceptor agonist, reduced response to 210 Blepharophimosis, epicanthus inversus, and ptosis 217 Bone mineral density variability 275 Carpal tunnel syndrome, familial 279 Cavernous malformations of CNS and retina 287 Central hypoventilation syndrome 292 Cerebrooculofacioskeletal syndrome 294 Cerebrovascular disease, occlusive 313 Cholesteryl ester storage disease 320 Choreoathetosis, hypothyroidism, and respiratory distress 329 Chylomicronemia syndrome, familial 344 Cold-induced autoinflammatory syndrome 347 Colonic aganglionosis, total, with small bowel involvement 357 Conotruncal anomaly face syndrome 377 Craniofacial anomalies, empty sella turcica, corneal endothelial changes 378 Craniofacial-deafness-hand syndrome 379 Craniofacial-skeletal-dermatologic dysplasia 396 Cyclic ichthyosis with epidermolytic hyperkeratosis 418 Dentinogenesis imperfecta, Shields type 422 Dermatofibrosarcoma protuberans 434 Dilated cardiomyopathy with woolly hair and keratoderma 438 Disordered steroidogenesis, isolated 439 Dissection of cervical arteries 441 Dopamine beta-hydroxylase deficiency 452 Dyggve-Melchior-Clausen disease 453 Dysalbuminemic hyperthyroxinemia 461 Dyssegmental dysplasia, Silverman-Handmaker type 463 Dystransthyretinemic hyperthyroxinemia 471 Elite sprint athletic performance 474 Emery-Dreifuss muscular dystrophy 527 Fatty liver, acute, of pregnancy 535 Fibrocalculous pancreatic diabetes 539 Fibular hypoplasia and complex brachydactyly 544 Fluorouracil toxicity, sensitivity to 545 Focal cortical dysplasia, Taylor balloon cell type 549 Foveomacular dystrophy, adult-onset, with choroidal neovascularization 558 Fuchs endothelial corneal dystrophy 584 Giant platelet disorder, isolated 594 Glomerulocystic kidney disease, hypoplastic 604 Glutathione synthetase deficiency 626 Greig cephalopolysyndactyly syndrome 646 Hearing loss, low-frequency sensorineural 665 Hemosiderosis, systemic, due to aceruloplasminemia 679 High-molecular-weight kininogen deficiency 699 Homocystinuria-megaloblastic anemia, cbl E type 701 Homozygous 2p16 deletion syndrome 727 Hyperferritinemia-cataract syndrome 733 Hyperkalemic periodic paralysis 734 Hyperkeratotic cutaneous capillary-venous malformations 780 Hypoparathyroidism-retardation-dysmorphism syndrome 785 Hypoplastic enamel pitting, localized 792 Hystrix-like ichthyosis with deafness 803 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 809 Infundibular hypoplasia and hypopituitarism 830 Jervell and Lange-Nielsen syndrome 833 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 843 Keratitis-ichthyosis-deafness syndrome 845 Keratoderma, palmoplantar, with deafness 847 Keratosis palmoplantaria striata 868 Laryngoonychocutaneous syndrome 891 Leukoencephalopathy with vanishing white matter 913 Lower motor neuron disease, progressive, without sensory symptoms 930 Lynch cancer family syndrome II 942 Malignant hyperthermia susceptibility 945 Mandibuloacral dysplasia with type B lipodystrophy 959 Mastocytosis with associated hematologic disorder 969 Medullary cystic kidney disease 982 Melorheostosis with osteopoikilosis 1001 Methionine adenosyltransferase deficiency, autosomal recessive 1002 Methylcobalamin deficiency, cblG type 1016 Mitochondrial complex deficiency 1050 Myelomonocytic leukemia, chronic 1056 Myoglobinuria/hemolysis due to PGK deficiency 1057 Myokymia with neonatal epilepsy 1080 Nephrogenic syndrome of inappropriate antidiuresis 1090 Neural tube defects, maternal risk of 1096 Neurofibromatosis-Noonan syndrome 1104 Nevus, epidermal, epidermolytic hyperkeratotic type 1105 Newfoundland rod-cone dystrophy 1113 Noncompaction of left ventricular myocardium 1119 Norwalk virus infection, resistance to 1133 Oculofaciocardiodental syndrome 1140 Oligodontia-colorectal cancer syndrome 1153 Ossification of the posterior longitudinal spinal ligaments 1164 Osteoporosis-pseudoglioma syndrome 1174 Pallidopontonigral degeneration 1183 Papillary serous carcinoma of the peritoneum 1227 Pigmentation of hair, skin, and eyes, variation in 1229 Pigmented paravenous chorioretinal atrophy 1232 Pituitary ACTH-secreting adenoma 1238 Pneumonitis, desquamative interstitial 1239 Pneumothorax, primary spontaneous 1263 Prion disease with protracted course 1265 Progressive external ophthalmoplegia with mitochondrial DNA deletions 1267 Prolactinoma, hyperparathyroidism, carcinoid syndrome 1297 Pyruvate dehydrogenase deficiency 1325 Rhizomelic chondrodysplasia punctata 1335 Robinow syndrome, autosomal recessive 1347 Sandhoff disease, infantile, juvenile, and adult forms 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 1438 Stapes ankylosis syndrome without symphalangism 1446 Stevens-Johnson syndrome, carbamazepine-induced 1456 Subcortical laminar heterotopia 1466 Sweat chloride elevation without CF 1475 Tarsal-carpal coalition syndrome 1476 Tauopathy and respiratory failure 1490 Thanatophoric dysplasia, types I and II 1518 Transient bullous of the newborn 1519 Transposition of great arteries, dextro-looped 1526 Trifunctional protein deficiency 1528 Trismus-pseudocomptodactyly syndrome 1542 Ullrich congenital muscular dystrophy 1545 Unna-Thost disease, nonepidermolytic 1555 VATER association with hydrocephalus 1565 Vitamin K-dependent coagulation defect 1580 Warfarin resistance/sensitivity 1586 Weissenbacher-Zweymuller syndrome 1611 XLA and isolated growth hormone deficiency 1614 Yemenite deaf-blind hypopigmentation syndrome 2327 Chronic infections, due to opsonin defect 2354 Congenital bilateral absence of vas deferens 2385 Creatine deficiency syndrome, X-linked 2785 Hypoplastic left heart syndrome 3037 Multiple cutaneous and uterine leiomyomata 3144 Optic nerve coloboma with renal disease 3212 Persistent hyperinsulinemic hypoglycemia of infancy 3229 Pigmented adrenocortical disease, primary isolated 3260 Premature chromosome condensation w/ microcephaly, mental retardation 3512 Total iodide organification defect 3558 Ventricular fibrillation, idiopathic 4291 Cerebral cavernous malformations 5170 Ovarian hyperstimulation syndrome 5233 Placental steroid sulfatase deficiency 10
The Model • Knowledge from literature is interpreted as a network of concepts (nodes) and relations among them (links) • Concepts are well-defined and relevant biological or medical entities such as peptides, proteins, receptors, physiological pathways, biological processes, symptoms and diseases • Exploiting the techniques of the mathematical theory of networks, data-driven analyses can be performed against the knowledge network to search for emergent patterns, highlighting or detecting unnoticed and indirect relations among concepts • Specifically, we focus on matching the information on peptides and biological processes with the patho-physiological signs and symptoms of the rare diseases 11
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