Source: BEFREE

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: 947
Gene Symbol: CD34
CD34
CD34 molecule 0.368 0.808 5.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 53369
Gene Symbol: HDL3
HDL3
Huntington-like neurodegenerative disorder 2 0.663 0.423
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha 0.633 0.692 1.0E-02
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 1986 1986
Entrez Id: 50507
Gene Symbol: NOX4
NOX4
NADPH oxidase 4 0.471 0.885 5.8E-20
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4982
Gene Symbol: TNFRSF11B
TNFRSF11B
TNF receptor superfamily member 11b 0.422 0.808 0.16
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4869
Gene Symbol: NPM1
NPM1
nucleophosmin 1 0.464 0.846 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4214
Gene Symbol: MAP3K1
MAP3K1
mitogen-activated protein kinase kinase kinase 1 0.538 0.731 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 1975 1975
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 3589
Gene Symbol: IL11
IL11
interleukin 11 0.481 0.808 3.2E-04
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3586
Gene Symbol: IL10
IL10
interleukin 10 0.281 0.923 5.9E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5617
Gene Symbol: PRL
PRL
prolactin 0.406 0.885 2.9E-07
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 1982 1982
Entrez Id: 57338
Gene Symbol: JPH3
JPH3
junctophilin 3 0.608 0.538 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 1993 1993
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
WASP family member 1 0.547 0.808 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8809
Gene Symbol: IL18R1
IL18R1
interleukin 18 receptor 1 0.473 0.808 8.6E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 8792
Gene Symbol: TNFRSF11A
TNFRSF11A
TNF receptor superfamily member 11a 0.480 0.846 8.8E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 867
Gene Symbol: CBL
CBL
Cbl proto-oncogene 0.527 0.769 6.1E-04
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 8470
Gene Symbol: SORBS2
SORBS2
sorbin and SH3 domain containing 2 0.736 0.423 3.6E-02
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 83641
Gene Symbol: FAM107B
FAM107B
family with sequence similarity 107 member B 0.722 0.538 7.4E-08
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7010
Gene Symbol: TEK
TEK
TEK receptor tyrosine kinase 0.462 0.692 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 64109
Gene Symbol: CRLF2
CRLF2
cytokine receptor like factor 2 0.615 0.538 3.3E-07
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 6347
Gene Symbol: CCL2
CCL2
C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 60
Gene Symbol: ACTB
ACTB
actin beta 0.325 0.923 0.99
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5770
Gene Symbol: PTPN1
PTPN1
protein tyrosine phosphatase non-receptor type 1 0.523 0.731 0.81
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 1998 1998