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: 10020
Gene Symbol: GNE
GNE 		glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 0.610 0.692 2.5E-16
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype 0.100 None 0 0
Entrez Id: 10347
Gene Symbol: ABCA7
ABCA7 		ATP binding cassette subfamily A member 7 0.644 0.577 2.1E-55
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype 0.100 None 0 0
Entrez Id: 10452
Gene Symbol: TOMM40
TOMM40 		translocase of outer mitochondrial membrane 40 0.590 0.538 0.99
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype 0.100 None 0 0
Entrez Id: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		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: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype 0.100 None 0 0
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype 0.100 None 0 0
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2 		presenilin 2 0.550 0.654 5.4E-04
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype 0.100 None 0 0
Entrez Id: 6653
Gene Symbol: SORL1
SORL1 		sortilin related receptor 1 0.582 0.692 7.7E-11
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype 0.100 None 0 0