All diseases

49 entries on 1 page. Showing entries 1 - 49.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00882 - cancer, esophageal 133239 - - - DCC, DEC1, DLEC1, LZTS1, RNF6, TGFBR2, WWOX - -
00883 - Loeys-Dietz syndrome, type 1B 610168 - - - TGFBR2 - -
00884 - Loeys-Dietz syndrome, type 2B 610380 - - - TGFBR2 - -
01240 - Leukocyte adhesion deficiency type 1 116920 - - - ITGB2 - -
01310 - Epidermolysis bullosa simplex, Cockayne-Touraine type 131800 - - - ITGB4, KRT14, KRT5 - -
01430 - Megaduodenum and/or megacystis 155310 - - - ACTG2 - -
01670 - asthma, nasal polyps, and aspirin intolerance 208550 - - - PTGER2, TBX21 - -
01774 - Adult junctional epidermolysis bullosa 226650 - - - COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 - -
01777 - Epidermolysis bullosa with pyloric atresia 226730 - - - ITGA6, ITGB4, PLEC - -
02093 - Glanzmann's thrombasthenia 273800 - - - ITGA2B, ITGB3 - -
02099 - Iodotyrosyl coupling defect 274700 - - - TG - -
02740 - Autoimmune thyroid disease 3 608175 - - - TG, ZFAT - -
03281 - dystrophy, muscular, congenital, due to integrin alpha-7 deficiency 613204 - - - ITGA7 - -
04015 - Rienhoff syndrome 615582 - - - TGFB3 - -
04527 AI-1H amelogenesis imperfecta, type IH (AI-1H) 616221 - - - ITGB6 - -
00190 ARCI-1 ichthyosis, congenital, autosomal recessive, type 1 (ARCI-1) 242300 - - - TGM1 - -
00192 ARCI-2 ichthyosis, congenital, autosomal recessive, type 2 (ARCI-2) 242100 - - - ALOX12B, TGM1 - -
01182 ARVD-1;ARVC-1 dysplasia, arrhythmogenic right ventricular, type 1 (ARVD-1, arrhythmogenic right ventricular cardiomyopathy (ARVC-1)) 107970 - - - TGFB3 - -
02645 ASRT-1 asthma-related traits, susceptibility to, type 1 (ASRT-1) 607277 - - - PTGDR - -
01576 BDPLT-16 bleeding disorder, platelet type 16 (BDPLT-16) 187800 - - - ITGA2B, ITGB3 - -
03579 BDPLT-9 bleeding disorder, platelet type 9 (BDPLT-9) 614200 - - - ITGA2 - -
01012 BRWS-2 Baraitser-Winter syndrome, type 2 (BRWS-2) 614583 - - - ACTG1 - -
01305 CAEND;DPD-1 Camurati-Engelmann disease (CAEND, dysplasia, diaphyseal, progressive type 1 (DPD-1)) 131300 - - - TGFB1 - -
05031 CATMANS Catel-Manzke syndrome (CATMANS) 616145 - - - TGDS - -
00462 CDA dystrophy, cornea, Avellino type (CDA) 607541 - - - TGFBI - -
00460 CDGG-1 dystrophy, corneal, Groenouw type I (CDGG-1) 121900 - - - TGFBI - -
00465 CDL-3A dystrophy, corneal, lattice type IIIA (CDL-3A) 608471 - - - TGFBI - -
00464 CDRB;CDB-1 dystrophy, corneal, Reis-Bucklers type (CDRB, corneal dystrophy of Bowman layer type 1 (CDB-1)) 608470 - - - TGFBI - -
00463 CDTB;CDB-2 dystrophy, corneal, Thiel-Behnke type (CDTB, corneal dystrophy of Bowman layer type2 (CDB-2)) 602082 - - - TGFBI - -
00128 CF cystic fibrosis (CF) 219700 - - - CFTR, FCGR2A, TGFB1 - -
01011 DFNA-20;DFNA-26 deafness, autosomal dominant, type 20/26 (DFNA-20;DFNA-26) 604717 - - - ACTG1 - -
01266 EBMD dystrophy, corneal, epithelial basement membrane (EBMD) 121820 - - - TGFBI - -
00104 EHT hypertension, essential (EHT) 145500 - - - ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5, SELE - -
00881 HNPCC-6 cancer, colorectal, nonpolyposis, hereditary, type 6 (HNPCC-6) 614331 - - - TGFBR2 - -
00438 HPE holoprosencephaly (HPE) 236100 - - - GLI2, SHH, SIX3, TGIF1, ZIC2 - -
01369 HPE-4 holoprosencephaly, type 4 (HPE-4) 142946 - - - TGIF1 - -
03008 IBD-10 bowel disease, inflammatory, type 10 (IBD-10) 611081 - - - ATG16L1 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
03722 ILNEB lung disease, interstitial, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) 614748 - - - ITGA3 - -
00461 LCD-1 dystrophy, corneal, lattice type I (LCD-1) 122200 - - - TGFBI - -
02831 LDS-1 Loeys-Dietz syndrome, type 1 (LDS-1) 609192 - - - TGFBR1 - -
00203 LDS-4 Loeys-Dietz syndrome, type 4 (LDS_4) 614816 - - - TGFB2 - -
02760 MCI-1 myocardial infarction, susceptibility to, type 1 (MCI-1) 608446 - - - ESR1, F13A1, F7, GCLC, GCLM, ITGB3, LGALS2, LTA, MIAT, OLR1, PSMA6, TNFSF4 - -
01931 ML-3C mucolipidosis, type III, gamma (ML-3C) 252605 - - - GNPTG - -
01319 MSSE epithelioma, squamous, multiple self healing (MSSE) 132800 - - - TGFBR1 - -
02876 PSS-2 skin, peeling, syndrome, type 2 (PSS-2) 609796 - - - TGM5 - -
01593 RHDA-1 hypodysplasia/aplasia, renal, type 1 (RHDA-1) 191830 - - - ITGA8, PAX2, RET - -
00216 SCA-35 ataxia, spinocerebellar, type 35 (SCA-35) 613908 - - - TGM6 - -
02887 SLEB-6 lupus erythematosus, systemic, type 6 (SLEB-6) 609939 - - - ITGAM - -
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