Source: HPO

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: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.200 None 1.000 0 0 1993 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
presenilin 1 0.469 0.846 0.97
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.190 None 1.000 0 0 2002 2019
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.150 None 1.000 0 0 2011 2019
Entrez Id: 203228
Gene Symbol: C9orf72
C9orf72
C9orf72-SMCR8 complex subunit 0.496 0.769 1.1E-06
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.130 None 1.000 0 0 2013 2017
Entrez Id: 4513
Gene Symbol: COX2
COX2
cytochrome c oxidase subunit II 0.352 0.962
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.120 None 1.000 0 0 2018 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
prion protein 0.445 0.923 6.3E-04
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.120 None 1.000 0 0 2015 2019
Entrez Id: 7099
Gene Symbol: TLR4
TLR4
toll like receptor 4 0.321 0.962 4.6E-09
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.120 None 1.000 0 0 2018 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
FMRP translational regulator 1 0.473 0.769 0.65
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
proline rich transmembrane protein 2 0.448 0.808 0.58
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 2896
Gene Symbol: GRN
GRN
granulin precursor 0.435 0.846 7.0E-02
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7
ATP binding cassette subfamily A member 7 0.644 0.577 2.1E-55
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1356
Gene Symbol: CP
CP
ceruloplasmin 0.466 0.846 4.2E-10
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
presenilin 2 0.550 0.654 5.4E-04
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
triggering receptor expressed on myeloid cells 2 0.519 0.769 3.3E-09
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
twinkle mtDNA helicase 0.516 0.692 3.2E-03
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
platelet derived growth factor subunit B 0.488 0.846 0.77
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 51308
Gene Symbol: REEP2
REEP2
receptor accessory protein 2 0.792 0.269 0.44
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
phenylalanine hydroxylase 0.516 0.769 6.4E-23
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 57338
Gene Symbol: JPH3
JPH3
junctophilin 3 0.608 0.538 1.00
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
endoplasmic reticulum aminopeptidase 1 0.556 0.692 2.1E-26
CUI: C0542476
Disease: Forgetful
Forgetful
phenotype 0.100 None 0 0