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 Osteopetrosis 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 Hypodontia Ear, Nose, Throat Aneurysm, COL1A2 familial_arterial Myasthenic Witkop 733 syndrome Heart 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 Syndactyly 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 hyperkeratosis 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 Creatine 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 Achondrogenesis-hypochondrogenesis, 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 Pseudohypoparathyroidism 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 brainstem 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 mineral 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 Insulin 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, hypothyroidism, and respiratory distress 1456 Diabetes TTR 329 Chylomicronemia syndrome, familial Coumarin Squamous_cell Myeloperoxidase APOE Amyloid Lissencephaly 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 Ataxia Perineal anemia syndrome RETN AGT F5 Hemorrhagic retardation IRF1 930 AGTR1 CBS diathesis 434 Dilated cardiomyopathy with woolly hair and keratoderma Partington hypospadias 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 Homocystinuria 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 Hyperprolinemia 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 Pseudohypoaldosteronism syndrome Rett syndrome MUTYH MAD1L1 Neuroectodermal syndrome AGRP Pick 527 Fatty liver, acute, of pregnancy Leanness, IL13 Atherosclerosis Seasonal 535 Fibrocalculous pancreatic diabetes syndrome FGFR1 Crouzon PIK3CA tumors Rheumatoid disease Neutropenia Aarskog-Scott Craniosynostosis syndrome Prostate PMS2 Hepatic inherited arthritis Liddle affective_disorder 539 Fibular hypoplasia and complex brachydactyly 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