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: 85319
Gene Symbol: BAGE2
BAGE2 		BAGE family member 2 0.931 0.115
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
Entrez Id: 7179
Gene Symbol: TPTE
TPTE 		transmembrane phosphatase with tensin homology 0.821 0.308 5.6E-24
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
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: 4552
Gene Symbol: MTRR
MTRR 		5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.875 2 0 2000 2017
Entrez Id: 25902
Gene Symbol: MTHFD1L
MTHFD1L 		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like 0.674 0.538 1.9E-12
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4548
Gene Symbol: MTR
MTR 		5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.824 2 0 2003 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 0.878 10 0 1999 2019
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: 4831
Gene Symbol: NME2
NME2 		NME/NM23 nucleoside diphosphate kinase 2 0.573 0.731 8.8E-09
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10578
Gene Symbol: GNLY
GNLY 		granulysin 0.584 0.692 9.7E-09
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 10570
Gene Symbol: DPYSL4
DPYSL4 		dihydropyrimidinase like 4 0.792 0.346 1.6E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 3856
Gene Symbol: KRT8
KRT8 		keratin 8 0.517 0.654 2.4E-08
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
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: 1136
Gene Symbol: CHRNA3
CHRNA3 		cholinergic receptor nicotinic alpha 3 subunit 0.588 0.692 1.4E-07
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410 		cilia and flagella associated protein 410 0.633 0.615 3.3E-07
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 0.500 1 0 2003 2003
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: 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: 760
Gene Symbol: CA2
CA2 		carbonic anhydrase 2 0.506 0.808 1.7E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2008 2008
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: 6573
Gene Symbol: SLC19A1
SLC19A1 		solute carrier family 19 member 1 0.523 0.692 6.5E-06
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.400 None 0.786 1 0 2003 2013
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1 		ATP binding cassette subfamily B member 1 0.344 0.885 1.3E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.020 None 1.000 1 0 2001 2019
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: 8209
Gene Symbol: GATD3A
GATD3A 		glutamine amidotransferase like class 1 domain containing 3A 0.619 0.654 3.0E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.010 None 1.000 1 0 2004 2004
Entrez Id: 875
Gene Symbol: CBS
CBS 		cystathionine beta-synthase 0.465 0.885 3.1E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.935 4 0 1985 2019