All diseases

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
03260 - macrothrombocytopenia, autosomal dominant, TUBB1-related 613112 AD 2 2 TUBB1 - -
03527 CDCBM1 dysplasia ,cortical, complex, with other brain malformations (CDCBM-1) 614039 AD 5 5 TUBB3 - -
04077 CDCBM5 dysplasia ,cortical, complex, with other brain malformations, type 5 (CDCBM-5) 615763 AD - - TUBB2A - -
04081 CDCBM6 dysplasia ,cortical, complex, with other brain malformations, type 6 (CDCBM-6) 615771 AD - - TUBB - -
02894 CDCBM7 dysplasia, cortical, complex, with other brain malformations, type 7 (CDCBM-7, polymicrogyria, asymmetric) 610031 AD 9 9 TUBB2B - -
05050 CFEOM3A fibrosis of extraocular muscles, congenital, type 3A (CFEOM-3A) 600638 AD 1 1 TUBB3 - -
00793 CPI;CPO cleft palate, isolated (CPI, cleft palate only (CPO)) 119540 - 7 7 SATB2, UBB - -
05051 DYT4 dystonia, type 4, torsion, autosomal dominant (DYT-4) 128101 AD - - TUBB4A - -
06400 FPVEPD ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction 617732 AD - - TUBB6 - -
05052 HLD6;HABC leukodystrophy, hypomyelinating, type 6 (HLD-6, HABC) 612438 AD 2 2 TUBB4A - autosomal dominant
00139 ID intellectual disability (ID) - - 2794 2475 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
06819 LCAEOD Leber congenital amaurosis with early-onset deafness 617879 AD - - TUBB4B - -
05372 OZEMA2;OOMD ocyte/zygote/embryo maturation arrest, type 2 616780 AD;AR - - TUBB8 - -
05450 OZEMA;OOMD ocyte/zygote/embryo maturation arrest - - 38 40 FBXO43, PANX1, PATL2, TUBB8, ZP1, ZP3 - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.