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: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 0.392 0.808
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.060 None 1.000 6 0 2005 2011
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.040 None 1.000 4 0 2001 2012
Entrez Id: 952
Gene Symbol: CD38
CD38
CD38 molecule 0.407 0.885 2.3E-06
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.020 None 1.000 2 0 1977 1981
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.020 None 1.000 2 0 2003 2006
Entrez Id: 2078
Gene Symbol: ERG
ERG
ETS transcription factor ERG 0.453 0.808 0.96
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 51009
Gene Symbol: DERL2
DERL2
derlin 2 0.617 0.615 0.96
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 627
Gene Symbol: BDNF
BDNF
brain derived neurotrophic factor 0.345 0.923 0.66
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 1986 1986
Entrez Id: 6782
Gene Symbol: HSPA13
HSPA13
heat shock protein family A (Hsp70) member 13 0.821 0.192 1.7E-02
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7031
Gene Symbol: TFF1
TFF1
trefoil factor 1 0.529 0.769 8.9E-04
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 1987 1987
Entrez Id: 7301
Gene Symbol: TYRO3
TYRO3
TYRO3 protein tyrosine kinase 0.559 0.769 8.3E-10
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 79728
Gene Symbol: PALB2
PALB2
partner and localizer of BRCA2 0.485 0.769 3.0E-19
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 84247
Gene Symbol: RTL6
RTL6
retrotransposon Gag like 6 0.861 0.115 1.8E-02
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 94234
Gene Symbol: FOXQ1
FOXQ1
forkhead box Q1 0.610 0.615 0.62
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 9464
Gene Symbol: HAND2
HAND2
heart and neural crest derivatives expressed 2 0.612 0.500 0.40
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1 0.504 0.769 1.00
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 4609
Gene Symbol: MYC
MYC
MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2114
Gene Symbol: ETS2
ETS2
ETS proto-oncogene 2, transcription factor 0.548 0.808 1.00
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 1988 1988
Entrez Id: 2295
Gene Symbol: FOXF2
FOXF2
forkhead box F2 0.621 0.500 0.85
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
filamin A 0.419 0.846 1.00
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 238
Gene Symbol: ALK
ALK
ALK receptor tyrosine kinase 0.396 0.846 3.2E-06
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 2597
Gene Symbol: GAPDH
GAPDH
glyceraldehyde-3-phosphate dehydrogenase 0.447 0.808 0.11
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 1978 1978
Entrez Id: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 1436
Gene Symbol: CSF1R
CSF1R
colony stimulating factor 1 receptor 0.448 0.808 0.13
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
disease 0.010 None 1.000 1 0 1992 1992