Source: LHGDN

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: 1082
Gene Symbol: CGB3
CGB3 		chorionic gonadotropin subunit beta 3 0.570 0.654 9.8E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 1 0 1990 2018
Entrez Id: 1081
Gene Symbol: CGA
CGA 		glycoprotein hormones, alpha polypeptide 0.508 0.808 0.35
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.070 None 1.000 1 0 1990 2018
Entrez Id: 3763
Gene Symbol: KCNJ6
KCNJ6 		potassium inwardly rectifying channel subfamily J member 6 0.615 0.692 0.54
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.060 None 1.000 2 0 2003 2018
Entrez Id: 3569
Gene Symbol: IL6
IL6 		interleukin 6 0.248 0.962 0.32
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.060 None 0.833 1 0 2001 2019
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2 		collagen type VI alpha 2 chain 0.599 0.692 6.5E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.060 None 1.000 1 0 1993 2015
Entrez Id: 5228
Gene Symbol: PGF
PGF 		placental growth factor 0.460 0.846 0.13
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.050 None 1.000 1 0 2002 2016
Entrez Id: 836
Gene Symbol: CASP3
CASP3 		caspase 3 0.351 0.923 0.10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.050 None 1.000 1 0 2002 2019
Entrez Id: 25825
Gene Symbol: BACE2
BACE2 		beta-secretase 2 0.628 0.615 6.8E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.050 None 0.800 1 0 2000 2014
Entrez Id: 9980
Gene Symbol: DOP1B
DOP1B 		DOP1 leucine zipper like protein B 0.861 0.192 7.5E-21
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 1.000 2 0 2003 2009
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.040 None 1.000 2 0 1999 2018
Entrez Id: 3718
Gene Symbol: JAK3
JAK3 		Janus kinase 3 0.505 0.731 5.9E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 3 0 2007 2008
Entrez Id: 8038
Gene Symbol: ADAM12
ADAM12 		ADAM metallopeptidase domain 12 0.565 0.731 5.7E-07
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 2 0 2007 2008
Entrez Id: 571
Gene Symbol: BACH1
BACH1 		BTB domain and CNC homolog 1 0.585 0.731 0.57
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 2 0 2003 2015
Entrez Id: 6347
Gene Symbol: CCL2
CCL2 		C-C motif chemokine ligand 2 0.321 0.962 0.61
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 2006 2019
Entrez Id: 8208
Gene Symbol: CHAF1B
CHAF1B 		chromatin assembly factor 1 subunit B 0.663 0.538 0.43
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 1996 2003
Entrez Id: 3815
Gene Symbol: KIT
KIT 		KIT proto-oncogene, receptor tyrosine kinase 0.366 0.808 0.98
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 2006 2010
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA 		vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 2004 2016
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		phosphatidylinositol glycan anchor biosynthesis class P 0.633 0.462 1.9E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 0.667 1 0 2000 2004
Entrez Id: 5978
Gene Symbol: REST
REST 		RE1 silencing transcription factor 0.535 0.808 0.99
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 2002 2008
Entrez Id: 2670
Gene Symbol: GFAP
GFAP 		glial fibrillary acidic protein 0.421 0.885 1.5E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 1993 2014
Entrez Id: 6453
Gene Symbol: ITSN1
ITSN1 		intersectin 1 0.656 0.577 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 2006 2011
Entrez Id: 2173
Gene Symbol: FABP7
FABP7 		fatty acid binding protein 7 0.584 0.577 7.9E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 2003 2009
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		prion protein 0.445 0.923 6.3E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.030 None 1.000 1 0 1986 2003
Entrez Id: 5052
Gene Symbol: PRDX1
PRDX1 		peroxiredoxin 1 0.485 0.846 7.7E-10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 1.000 2 0 2001 2003
Entrez Id: 10935
Gene Symbol: PRDX3
PRDX3 		peroxiredoxin 3 0.568 0.769 4.2E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 1.000 2 0 2001 2003