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: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.400 None 1.000 2 0 2012 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN 		granulin precursor 0.435 0.846 7.0E-02
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.390 None 1.000 2 0 2007 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.390 None 1.000 1 0 2010 2019
Entrez Id: 54209
Gene Symbol: TREM2
TREM2 		triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.320 None 1.000 2 0 2014 2020
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1 		sequestosome 1 0.428 0.885 8.6E-04
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.310 None 1.000 1 0 2013 2018
Entrez Id: 25978
Gene Symbol: CHMP2B
CHMP2B 		charged multivesicular body protein 2B 0.543 0.731 4.6E-06
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.300 None 1.000 2 0 2012 2013
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B 		transmembrane protein 106B 0.590 0.462 0.33
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.300 None 1.000 2 0 2011 2016
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.300 None 1.000 1 0 2000 2000
Entrez Id: 7415
Gene Symbol: VCP
VCP 		valosin containing protein 0.469 0.923 1.00
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		disease 0.300 None 1.000 1 0 2013 2013