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: 4547
Gene Symbol: MTTP
MTTP
microsomal triglyceride transfer protein 0.505 0.846 1.0E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.800 None 0.982 48 0 1985 2019
Entrez Id: 338
Gene Symbol: APOB
APOB
apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.200 None 0.971 34 0 1985 2019
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
secretion associated Ras related GTPase 1B 0.686 0.462 2.3E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.130 None 1.000 3 0 2011 2016
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
vacuolar protein sorting 13 homolog A 0.650 0.577 9.3E-22
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.130 None 1.000 3 0 2007 2018
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
pantothenate kinase 2 0.559 0.808 7.4E-07
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.130 None 0.667 3 0 2005 2015
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.110 None 1.000 1 0 2017 2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase 0.432 0.923 1.00
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.100 None 0.933 15 1 1995 2019
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta 0.619 0.692 1.5E-11
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.060 None 1.000 6 2 2009 2019
Entrez Id: 4490
Gene Symbol: MT1B
MT1B
metallothionein 1B 0.585 0.731 5.4E-03
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.060 None 1.000 6 0 2004 2014
Entrez Id: 3030
Gene Symbol: HADHA
HADHA
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha 0.569 0.769 4.4E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.050 None 1.000 5 0 2005 2019
Entrez Id: 613
Gene Symbol: BCR
BCR
BCR activator of RhoGEF and GTPase 0.431 0.885 0.99
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
disease 0.050 None 1.000 5 0 1994 2004
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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