Source: ALL

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: 6647
Gene Symbol: SOD1
SOD1 		superoxide dismutase 1 0.379 0.962 0.18
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.993 135 7 1994 2019
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		leucine rich repeat kinase 2 0.510 0.808 2.6E-30
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 90 4 2005 2019
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		BRCA1 DNA repair associated 0.367 0.923 9.2E-29
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.972 72 2 1993 2019
Entrez Id: 6622
Gene Symbol: SNCA
SNCA 		synuclein alpha 0.427 0.885 0.88
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.986 71 4 1998 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR 		transthyretin 0.423 0.885 0.52
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 71 7 1982 2018
Entrez Id: 348
Gene Symbol: APOE
APOE 		apolipoprotein E 0.338 0.962 1.9E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.954 65 0 1986 2015
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72 		C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 62 0 2012 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 51 1 1989 2019
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 47 6 1992 2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP 		TAR DNA binding protein 0.493 0.808 0.99
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 41 2 2007 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.976 41 1 1994 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 38 8 1998 2018
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 37 6 1997 2019
Entrez Id: 2896
Gene Symbol: GRN
GRN 		granulin precursor 0.435 0.846 7.0E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 28 0 2007 2019
Entrez Id: 2521
Gene Symbol: FUS
FUS 		FUS RNA binding protein 0.470 0.846 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 26 1 2010 2018
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS 		insulin like growth factor binding protein acid labile subunit 0.511 0.846 5.4E-11
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.962 26 3 1996 2019
Entrez Id: 4221
Gene Symbol: MEN1
MEN1 		menin 1 0.444 0.808 1.00
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 26 3 1995 2018
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 25 0 1996 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.957 23 4 1991 2018
Entrez Id: 65018
Gene Symbol: PINK1
PINK1 		PTEN induced kinase 1 0.516 0.769 1.9E-10
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.909 22 3 2002 2018
Entrez Id: 338
Gene Symbol: APOB
APOB 		apolipoprotein B 0.453 0.808 1.9E-16
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 21 3 1989 2018
Entrez Id: 9049
Gene Symbol: AIP
AIP 		aryl hydrocarbon receptor interacting protein 0.517 0.769 0.36
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 0.905 21 3 2007 2020
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1 		RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 20 0 2000 2019
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		prion protein 0.445 0.923 6.3E-04
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 19 3 1989 2015
Entrez Id: 10686
Gene Symbol: CLDN16
CLDN16 		claudin 16 0.647 0.538 2.5E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease 0.100 None 1.000 18 0 2001 2019