All diseases

162 entries on 2 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00021 - Breast cancer 114480 AD;SMu 17 7 CCL2, CHEK2, CYP2D6, ERCC2, IL16, MCM3AP, TP53, VEGFA, XPC breast -
00023 - Gliomas - - 7 3 IDH1, PTEN, TP53 brain -
00041 - Hypodontia - - 10 5 PAX9 - -
00045 - Hyperhomocysteinemia 603174 - 7 0 MTHFR, PCSK9 - -
00048 - Obesity - - 30 0 ACE, CARTPT, FTO, GHRL, INSIG2, LEPR, MC4R, UCP1, UCP2, UCP3 - -
00055 - Nephrolithiasis - - 1 0 MMP9 - -
00057 - Asthma - - 1 0 IL13 - -
00058 - Schizophrenia disease - - 6 0 DISC1 - -
00061 - Epilepsy - - 16 3 RORA, RORB, SCN2A, SCN2B - -
00065 - Gout - - 2 0 SLC2A9 - -
00083 - pharmacogenetics - - 3 0 CYP2D6 - -
00084 - Coronary Heart Disease - - 1 0 CYP11B2 heart muscle -
00087 - Pompe's Disease 232300 AR 2 2 GAA - -
00090 - Neonatal Hyperbilirubinemia 237900 AR 7 0 SLCO1B1, UGT1A1 - -
00096 - Autoinflammatory disorder - - 1 1 NLRC4 - -
00100 - Class III Malocclusion - AD 1 1 DUSP6 - -
00103 - Amyloidosis, Hereditary, Transthyretin-Related 105210 AD 6 0 TTR - -
00125 - Neonatal Jaundice - - 2 0 UGT1A1 - -
00135 - Cold Pain Sensitivity - - 1 0 - - -
00137 - Keloid Scar - - 1 1 SMAD4, TGFB1 - -
00146 - Cerebral Supratentorial Ependymomas - - 1 1 TP53 brain -
00152 - Brain Tumor - - 1 0 BRAF, CYP2A6 brain -
00157 - Sandhoff Disease 268800 AR 2 2 HEXB - -
00009 ABCB1 Epilepsy syndrome 171050 - 0 0 ABCB1 hippocampus -
00068 ACE angiotensin I converting enzyme 106180 - 0 0 ADRA2A - -
00107 ADSLD Adenylosuccinate Lyase Deficiency 103050 AR 1 0 ADSL - -
00109 AHDS Allan-Herndon-Dudley Syndrome 300523 XL 1 0 SLC16A2 - -
00110 ALD Adrenoleukodystrophy 300100 XLR 0 0 ABCD1 - -
00162 AML Acute myeloid leukemia 601626 AD;SMu 0 0 FLT3, NPM1 - -
00116 ANEC Acute Necrotizing Encephalopathy of Childhood 608033 AD 3 3 RANBP2 - -
00008 APC Colorectal cancer(APC) 611731 - 5 0 APC colon -
00082 ARCI autosomal recessive congenital ichthyosis - AR 7 7 ABCA12, ALOX12B, TGM1 - -
00044 ASD Atrial septal defect - - 1 0 MYH3 - -
00033 ASLD Argininosuccinate lyase (ASL) deficiency - - 3 0 ASL - -
00101 AT3D Antithrombin III deficiency 613118 AD;AR 1 0 SERPINC1 - -
00154 ATRX Alpha-thalassemia Mental Retardation Syndrome 301040 XLD 2 2 ATRX - -
00030 BD Biotinidase deficiency - - 1 1 BTD - -
00104 BLAUS Blau Syndrome 186580 AD 4 4 NOD2 - -
00144 BPAN Beta-propeller Protein-associated Neurodegeneration 300894 XLD 1 1 WDR45 brain -
00060 BPD Bipolar disorder - - 12 0 HTR2A, PDLIM5 - -
00001 BRCA1 Breast Cancer 1 gene 113705 - 23 7 BRCA1 breast -
00002 BRCA2 Breast Cancer 2 gene 600185 - 14 4 BRCA2 breast -
00075 CA congenital aniridia 106210 AD 1 0 PAX6 - -
00024 CADASIL Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - - 6 5 NOTCH3 - -
00112 CAH Congenital Adrenal Hyperplasia 201910 AR 1 1 CYP21A2 - -
00077 CC cervical cancer 603956 - 1 0 FAS - -
00047 CD Crohn's disease - - 20 0 ATG16L1, CXCL16, DLG5, IL23R, IRGM, NOD1, SLC22A5, STAT3, STAT6, TLR4, TYK2 - -
00099 CDG-1a Congenital Disorder of Glycosylation type 1a 212065 AR 1 1 PMM2 - -
00133 CDLS Cornelia de Lange syndrome 122470 AD 1 1 - - -
00013 CFTR Cystic fibrosis 602421 - 1 0 CFTR - -
00089 CH Congenital hypothyroidism - - 20 2 FOXE1, TPO, TSHR - -
00161 CHARGE CHARGE Syndrome 214800 AD 1 1 CHD7 eyes;ears;heart muscle -
00120 CHD Congenital Heart Disease - - 1 1 GATA4 heart muscle -
00151 CHILD Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects Syndrome 308050 XLD 1 1 NSDHL - -
00092 CIPA Congenital insensitivity to pain with anhydrosis 256800 - 2 2 NTRK1 - -
00051 CKD Chronic kidney disease - - 1 1 AGER kidney -
00063 CML chronic myeloid leukemia - - 5 0 ABL1 - -
00149 CMS Congenital Myasthenic Syndrome 254210 AR 2 2 CHAT - -
00080 CMT Charcot-Marie-Tooth disease - - 4 3 AHNAK2, GJB1, MPZ - -
00011 COMT Schizophrenia 116790 - 1 0 AKT1 brain -
00158 COPD Chronic Obstructive Pulmonary Disease 606963 - 1 0 JAK2 - -
00164 CPS Complex Partial Seizures 608096 AD 0 0 ABCC2 - -
00038 CPS1D carbamoylphosphate synthetase I deficiency - - 2 2 CPS1 - -
00028 CRC colorectal , cancer - - 22 13 ANKDD1B, ATM, BRAF, CCDC144NL, CDK11B, CENPM, CLDN5, GOLGA8R, MAFA, MAGEB16, MAP3K14, MS4A12, MUC19, MUC6, NFKBIA, OR51Q1, OR5AR1, PKD1L3, PRIM2, PRM3, 3 more - -
00097 CTLN2 Citrullinemia, Type II, Adult-Onset 603471 AR 1 0 SLC25A13 - -
00140 CVID3 Common Variable Immunodeficiency 3 613493 AR 1 1 CD19 - -
00118 DEBP Dystrophic Epidermolysis Bullosa Pruriginosa 604129 AD;AR 1 1 COL7A1 skin -
00126 DEND Developmental Delay, Epilepsy and Neonatal Diabetes Syndrome - - 1 1 KCNJ11 - -
00139 DKC Dyskeratosis Congenita 305000 XLR 2 2 DKC1 - -
00064 DMD Duchenne muscular dystrophy - - 7 9 - - -
00128 DPD Dihydropyrimidine Dehydrogenase Deficiency 274270 AR 2 2 DPYD - -
00071 DR diabetic retinopathy 603933 AD 1 0 SLC2A1 - -
00160 DRTA Recessive Distal Renal Tubular Acidosis 611590 AR 2 2 SLC4A1 - -
00042 DS Down Syndrome 190685 IC 2 2 GATA1 - -
00054 EH Essential Hypertension - - 15 0 ADRB2, AGT, MMP1, MMP12, MMP9, NOS3, TIMP1 - -
00081 EOAD Early Onset Alzheimer disease - AD 5 5 PRNP, PSEN1 brain -
00156 EPM11 Progressive Myoclonic Epilepsy 11 618876 AD 1 0 SEMA6B - -
00119 EPVB6D Early Onset Epilepsy, Vitamin B6-dependent 617290 AR 2 2 PLPBP - -
00026 F8 Haemophilia A - - 6 0 F8 - -
00015 F9 Haemophilia B 300746 - 6 3 F9 - -
00132 FBP1D Fructose-1,6-bisphosphatase Deficiency 229700 AR 7 7 FBP1 - -
00106 FD Fabry Disease 301500 XL 2 0 GLA - -
00031 FH Familial hypercholesterolemia - - 23 14 ABCG8, APOB, LDLR, PCSK9 - -
00014 G6PD G6PD deficiency 305900 - 14 3 G6PD - -
00029 GA1 Glutaric aciduria type 1 - - 2 2 GCDH - -
00062 GCE Glycine encephalopathy/nonketotic hyperglycinemia - - 9 9 AMT, GLDC - -
00073 GDM gestational diabetes mellitus - - 3 0 GCKR - -
00035 GEFS+ generalized epilepsy with febrile seizures plus - - 2 1 SCN1A - -
00117 GGE Genetic Generalized Epilepsy - AD 1 0 SCN1A, TAS1R2 - -
00142 GS Griscelli Syndrome 607624 AR 1 1 RAB27A - -
00036 GSD III Glycogen storage disease type III - - 5 5 AGL - -
00012 HBB Beta-thalassaemia 141900 - 126 64 HBB - -
00114 HCS Holocarboxylase Synthetase Deficiency 253270 AR 1 0 - - -
00022 HGSOC high grade serous ovarian cancer - - 12 1 EGFR, FGFR3, KDR, KIT, MET, RET, SMO, STK11 - -
00153 HH Hereditary Hemochromatosis 235200 AR 3 0 HFE - -
00005 HNPCC Lynch syndrome 609309 AD 7 1 MSH2, MSX1, PMS2 colon -
00163 HNPCC Hereditary non-polyposis colorectal cancer - AD 0 0 MLH1, MSH2, MSH6 - -
00091 HP Hereditary Pancreatitis 167800 - 3 2 PRSS1 pancreas -
00093 HPABH-4A hyperphenylalaninemia, BH4-deficient, type A (HPABH-4A, 6-pyruvoyl-tetrahydropterin synthase deficiency) 261640 AD 1 0 PTS - -
00049 HR Hypophosphataemic rickets - - 3 0 DMP1, FGF23, PHEX - -
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