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: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 10148
Gene Symbol: EBI3
EBI3
Epstein-Barr virus induced 3 0.474 0.808 0.11
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 10573
Gene Symbol: MRPL28
MRPL28
mitochondrial ribosomal protein L28 0.505 0.731 2.0E-07
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 25859
Gene Symbol: PART1
PART1
prostate androgen-regulated transcript 1 0.483 0.885
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 1985 1985
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 10879
Gene Symbol: SMR3B
SMR3B
submaxillary gland androgen regulated protein 3B 0.601 0.654 0.39
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 238
Gene Symbol: ALK
ALK
ALK receptor tyrosine kinase 0.396 0.846 3.2E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2168
Gene Symbol: FABP1
FABP1
fatty acid binding protein 1 0.588 0.692 9.8E-07
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 2120
Gene Symbol: ETV6
ETV6
ETS variant transcription factor 6 0.477 0.731 0.97
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 2043
Gene Symbol: EPHA4
EPHA4
EPH receptor A4 0.566 0.846 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 115482684
Gene Symbol: H3P9
H3P9
H3 histone pseudogene 9 0.505 0.731
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 10923
Gene Symbol: SUB1
SUB1
SUB1 regulator of transcription 0.465 0.846 0.89
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 2672
Gene Symbol: GFI1
GFI1
growth factor independent 1 transcriptional repressor 0.546 0.769 0.25
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 11156
Gene Symbol: PTP4A3
PTP4A3
protein tyrosine phosphatase 4A3 0.566 0.654 4.5E-02
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1030
Gene Symbol: CDKN2B
CDKN2B
cyclin dependent kinase inhibitor 2B 0.417 0.769 7.3E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 3091
Gene Symbol: HIF1A
HIF1A
hypoxia inducible factor 1 subunit alpha 0.327 0.923 0.98
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 4602
Gene Symbol: MYB
MYB
MYB proto-oncogene, transcription factor 0.490 0.692 0.82
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 29107
Gene Symbol: NXT1
NXT1
nuclear transport factor 2 like export factor 1 0.505 0.731 0.65
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 27
Gene Symbol: ABL2
ABL2
ABL proto-oncogene 2, non-receptor tyrosine kinase 0.619 0.654 3.6E-07
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 3956
Gene Symbol: LGALS1
LGALS1
galectin 1 0.435 0.846 4.5E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.020 None 1.000 2 0 2013 2016
Entrez Id: 8600
Gene Symbol: TNFSF11
TNFSF11
TNF superfamily member 11 0.453 0.846 4.9E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.020 None 1.000 2 0 2017 2017
Entrez Id: 2875
Gene Symbol: GPT
GPT
glutamic--pyruvic transaminase 0.403 0.923 3.6E-19
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 4353
Gene Symbol: MPO
MPO
myeloperoxidase 0.377 0.923 7.1E-15
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
RNA, 7SL, cytoplasmic 263, pseudogene 0.496 0.808
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.030 None 1.000 3 0 1988 2014
Entrez Id: 2125
Gene Symbol: EVPL
EVPL
envoplakin 0.599 0.423 5.7E-25
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.040 None 1.000 4 0 1998 2009