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: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease 0.800 limited 0.985 1 0 2009 2020
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		disease 0.800 None 1.000 1 0 2012 2020
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.400 None 1.000 2 0 2012 2019
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		disease 0.320 None 1.000 1 0 2013 2017
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0338462
Disease: Semantic Dementia
Semantic Dementia 		disease 0.310 None 1.000 1 0 2013 2017