All diseases

24 entries on 1 page. Showing entries 1 - 24.
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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 - -
05049 ALS22 sclerosis, lateral, amyotrophic, type 22 with/without frontotemoral dementia (ALS22) 616208 AD - - TUBA4A - -
03527 CDCBM1 dysplasia ,cortical, complex, with other brain malformations (CDCBM-1) 614039 AD 5 5 TUBB3 - -
03932 CDCBM4 dysplasia ,cortical, complex, with other brain malformations, type 4 (CDCBM-4) 615412 AD 8 8 TUBG1 - -
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 - -
03277 CDCBM8 dysplasia, cortical, complex, with other brain malformations, type 8 (CDCBM8, polymicrogyria) 613180 AR - - TUBA8 - -
05050 CFEOM3A fibrosis of extraocular muscles, congenital, type 3A (CFEOM-3A) 600638 AD 1 1 TUBB3 - -
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) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06472 KTCN9 Keratoconus 9 617928 AD - - TUBA3D - -
06819 LCAEOD Leber congenital amaurosis with early-onset deafness 617879 AD - - TUBB4B - -
03044 LIS3 lissencephaly, type 3 (LIS-3) 611603 AD 161 160 TUBA1A - -
01113 MCCRP1 microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1) 251270 AR 1 2 TUBGCP6 - -
05053 MCCRP3 microcephaly and chorioretinopathy, autosomal recessive, type 3 (MCCRP-3) 616335 AR - - TUBGCP4 - -
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 - -
06101 PAMDDFS Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 618737 AR - - TUBGCP2 - -
05048 RDOB dystrophy, retinal?, and obesity (RDOB) 616188 AR - - TUB - -
06307 SCA48 ?Spinocerebellar ataxia 48 618093 AD - - STUB1 - -
04079 SCAR16 ataxia, spinocerebellar, autosomal recessive, type 16 (SCAR-16) 615768 AR 1 1 STUB1 - -
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