All diseases

118 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 11 5 CCL2, CHEK2, CYP2D6, ERCC2, IL16, MCM3AP, TP53, VEGFA, XPC breast -
00023 - Gliomas - - 5 1 IDH1, PTEN, TP53 brain -
00041 - Hypodontia - - 4 1 PAX9 - -
00045 - hyperhomocysteinemia - - 6 0 MTHFR - -
00048 - Obesity - - 9 0 ACE, CARTPT, FTO, GHRL, INSIG2, LEPR, MC4R, UCP1, UCP2, UCP3 - -
00055 - Nephrolithiasis - - 1 0 MMP9 - -
00057 - Asthma - - 1 0 IL13 - -
00058 - Schizophrenia disease - - 2 0 DISC1 - -
00061 - Epilepsy - - 1 0 RORA, RORB, SCN2A, SCN2B - -
00065 - Gout - - 0 0 SLC2A9 - -
00083 - pharmacogenetics - - 0 0 CYP2D6 - -
00084 - Coronary Heart Disease - - 0 0 CYP11B2 heart muscle -
00087 - Pompe's Disease - - 0 0 GAA - -
00090 - Neonatal Hyperbilirubinemia 237900 AR 0 0 SLCO1B1, UGT1A1 - -
00096 - Autoinflammatory disorder - - 0 0 NLRC4 - -
00100 - Class III Malocclusion - AD 0 0 DUSP6 - -
00103 - Amyloidosis, Hereditary, Transthyretin-Related 105210 AD 0 0 TTR - -
00114 - Holocarboxylase Synthetase Deficiency 253270 AR 0 0 - - -
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 0 0 ADSL - -
00109 AHDS Allan-Herndon-Dudley Syndrome 300523 XL 0 0 SLC16A2 - -
00110 ALD Adrenoleukodystrophy 300100 XLR 0 0 ABCD1 - -
00116 ANEC Acute Necrotizing Encephalopathy of Childhood 608033 AD 0 0 RANBP2 - -
00008 APC Colorectal cancer(APC) 611731 - 4 0 APC colon -
00082 ARCI autosomal recessive congenital ichthyosis - AR 0 0 ABCA12, ALOX12B, TGM1 - -
00044 ASD Atrial septal defect - - 1 0 MYH3 - -
00033 ASLD Argininosuccinate lyase (ASL) deficiency - - 2 0 ASL - -
00101 AT3D Antithrombin III deficiency 613118 AD;AR 0 0 SERPINC1 - -
00030 BD Biotinidase deficiency - - 1 1 BTD - -
00104 BLAUS Blau Syndrome 186580 AD 0 0 NOD2 - -
00060 BPD Bipolar disorder - - 0 0 HTR2A, PDLIM5 - -
00001 BRCA1 Breast Cancer 1 gene 113705 - 20 7 BRCA1 breast -
00002 BRCA2 Breast Cancer 2 gene 600185 - 11 4 BRCA2 breast -
00075 CA congenital aniridia 106210 AD 0 0 PAX6 - -
00024 CADASIL Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy - - 5 4 NOTCH3 - -
00112 CAH Congenital Adrenal Hyperplasia 201910 AR 0 0 CYP21A2 - -
00077 CC cervical cancer 603956 - 0 0 FAS - -
00047 CD Crohn's disease - - 19 0 ATG16L1, CXCL16, DLG5, IL23R, IRGM, NOD1, SLC22A5, STAT3, STAT6, TLR4, TYK2 - -
00099 CDG-1a Congenital Disorder of Glycosylation type 1a 212065 AR 0 0 PMM2 - -
00013 CFTR Cystic fibrosis 602421 - 1 0 CFTR - -
00089 CH Congenital hypothyroidism - - 1 0 TPO, TSHR - -
00092 CIPA Congenital insensitivity to pain with anhydrosis 256800 - 0 0 NTRK1 - -
00051 CKD Chronic kidney disease - - 1 1 AGER kidney -
00063 CML chronic myeloid leukemia - - 0 0 ABL1 - -
00080 CMT Charcot-Marie-Tooth disease - - 0 0 AHNAK2, GJB1, MPZ - -
00011 COMT Schizophrenia 116790 - 1 0 AKT1 brain -
00038 CPS1D carbamoylphosphate synthetase I deficiency - - 2 2 CPS1 - -
00028 CRC colorectal , cancer - - 9 2 ATM, BRAF, NFKBIA, SYNE1 - -
00097 CTLN2 Citrullinemia, Type II, Adult-Onset 603471 AR 0 0 SLC25A13 - -
00118 DEBP Dystrophic Epidermolysis Bullosa Pruriginosa 604129 AD;AR 0 0 COL7A1 skin -
00064 DMD Duchenne muscular dystrophy - - 0 0 - - -
00071 DR diabetic retinopathy 603933 AD 1 0 SLC2A1 - -
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 0 0 PRNP, PSEN1 brain -
00119 EPVB6D Early Onset Epilepsy, Vitamin B6-dependent 617290 AR 0 0 PLPBP - -
00026 F8 Haemophilia A - - 6 0 F8 - -
00015 F9 Haemophilia B 300746 - 6 3 F9 - -
00106 FD Fabry Disease 301500 XL 0 0 GLA - -
00031 FH Familial hypercholesterolemia - - 18 11 ABCG8, APOB, LDLR, PCSK9 - -
00014 G6PD G6PD deficiency 305900 - 11 0 G6PD - -
00029 GA1 Glutaric aciduria type 1 - - 2 2 GCDH - -
00062 GCE Glycine encephalopathy/nonketotic hyperglycinemia - - 0 0 AMT, GLDC - -
00073 GDM gestational diabetes mellitus - - 0 0 GCKR - -
00035 GEFS+ generalized epilepsy with febrile seizures plus - - 1 0 SCN1A - -
00117 GGE Genetic Generalized Epilepsy - AD 0 0 SCN1A, TAS1R2 - -
00036 GSD III Glycogen storage disease type III - - 5 5 AGL - -
00086 GSD-1A storage disease, glycogen, type 1A 232200 - 0 0 - - -
00012 HBB Beta-thalassaemia 141900 - 68 41 HBB - -
00022 HGSOC high grade serous ovarian cancer - - 12 1 EGFR, FGFR3, KDR, KIT, MET, RET, SMO, STK11 - -
00091 HP Hereditary Pancreatitis 167800 - 0 0 PRSS1 pancreas -
00093 HPABH-4A hyperphenylalaninemia, BH4-deficient, type A (HPABH-4A, 6-pyruvoyl-tetrahydropterin synthase deficiency) 261640 AD 0 0 PTS - -
00049 HR Hypophosphataemic rickets - - 3 0 DMP1, FGF23, PHEX - -
00094 HSCR Hirschsprung’s disease 142623 - 0 0 RET - -
00115 INAD Infantile Neuroaxonal Dystrophy 256600 AR 0 0 PLA2G6 - -
00052 JOAG juvenile-onset open angle glaucoma - - 2 1 MYOC - -
00007 KRAS Colorectal cancer (Kras) 190070 - 8 4 KRAS colon -
00069 LD Lafora disease 254780 AR 0 0 EPM2A - -
00066 LF lymphatic filariasis - Mu 0 0 CTLA4 - -
00111 LGMD2B Muscular Dystrophy, Limv Girdle, Type 2B 253601 - 0 0 DYSF - -
00067 LPI lysinuric protein intolerance 222700 AR 0 0 SLC7A7 - -
00004 MEN1 Multiple Endocrine Neoplasia 613733 - 2 1 MEN1 - -
00072 MetS metabolic syndrome 605552 AD 0 0 FTO, LEPR, MTHFR - -
00085 MLD Metachromatic Leukodystrophy 250100 - 0 0 ARSA - -
00006 MLH1 Colorectal cancer 120436 - 1 0 MLH1 colon -
00032 MPS IVA Mucopolysaccharidosis IVA - - 1 1 GALNS - -
00005 MSH2 Non polyposis colon cancer 609309 - 2 1 MSH2, MSX1 colon -
00034 MSUD maple syrup urine disease - - 9 9 BCKDHA, BCKDHB, DBT - -
00003 MSX1 Msh homeobox 1 gene 142983 - 1 0 - - -
00010 MTHFR Ishaemic strokes 607093 - 1 0 MTHFR - -
00095 MWS Mowat-Wilson Syndrome 235730 - 0 0 ZEB2 - -
00074 NAFLD non-alcoholic fatty liver disease - - 0 0 PNPLA3 - -
00070 NPC, NPCA nasopharyngeal carcinoma 607107 - 0 0 HLA-A, ITGA9 - -
00040 NSHL non-syndromic hearing loss - - 7 0 GJB2, GJB6 - -
00046 NTDs Neural tube defects - - 1 0 MTRR - -
00027 OI Osteogenesis imperfecta - - 2 2 COL1A1, COL1A2 - -
00020 OSCC Oral squamous cell carcinoma - - 2 0 HRAS, PDGFRA, TP53 - -
00025 OTCD Ornithine transcarbamylase deficiency - - 2 2 OTC - -
00018 PALB2 Partner And Localizer Of BRCA2 - - 5 4 PALB2 - -
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