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
00750 ALGS1 Alagille syndrome, type 1 (ALGS1) 118450 AD 1003 383 JAG1, NOTCH2 - autosomal dominant
00558 ALGS2 Alagille syndrome, type 2 (ALGS-2) 610205 AD 1 1 NOTCH2 - autosomal dominant
05743 ETM tremor, hereditary essential (ETM) - - - - NOTCH2NLC - -
05744 ETM6 tremor, hereditary essential, type 6 (ETM6) 618866 AD - - NOTCH2NLC - -
00559 HJCYS Hajdu-Cheney syndrome (HJCYS) 102500 AD 24 12 NOTCH2 - -
05612 NIID neuronal intranuclear inclusion disease (NIID) 603472 AD 80 80 NOTCH2NLC - -
05741 OPDM myopathy, oculopharyngodistal (OPDM) - - 60 43 GIPC1, LRP12, NOTCH2NLC, RILPL1 - -
06896 OPDM3 myopathy, oculopharyngodistal, type 3 (OPDM3) 619473 AD - - NOTCH2NLC - -
05613 PARK Parkinson disease (PARK) - - 340 335 NOTCH2NL - -
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