Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.700 None 0.974 4 0 2009 2020
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
Frontotemporal Dementia With Motor Neuron Disease
disease 0.400 None 1.000 1 0 2002 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
Behavioral variant of frontotemporal dementia
disease 0.310 None 1.000 1 0 2013 2018
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy
disease 0.300 None 1.000 1 0 2018 2018
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
sequestosome 1 0.428 0.885 8.6E-04
Welander distal myopathy, Swedish type
disease 0.300 None 1.000 1 0 2018 2018