All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00284 - epilepsy, myoclonic, dystonia, hemiparesis, autonomic signs, lethargy, progressive diffuse cerebral atrophy - - 2 1 TBC1D24 - -
00285 - epilepsy, focal, dysarthria, intellectual disability, cortical thickening, cerebellar atrophy - - 7 4 TBC1D24 - -
04219 DFNA65 deafness, autosomal dominant, type 65 (DFNA-65) 616044 AD 4 3 TBC1D24 - -
00294 DFNB86 deafness, nonsyndromic, autosomal recessive, type 86 (DFNB-86) 614617 AR 4 1 TBC1D24 - -
00286 DOORS deafness, onychodystrophy, osteodystrophy, mental retardation syndrome (DOORS) 220500 AR 13 2 TBC1D24 - -
00283 EIEE16 encephalopathy, epileptic, early infantile, type 16 (EIEE-16) 615338 AR 0 0 TBC1D24 - -
05835 EPRPDC epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp (EPRPDC) 608105 AR 0 0 TBC1D24 - -
00097 FIME epilepsy, myoclonic, infantile, familial (FIME) 605021 AR 1 0 TBC1D24 - -
00139 ID intellectual disability (ID) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
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