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: 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: 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: 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: 9510
Gene Symbol: ADAMTS1
ADAMTS1
ADAM metallopeptidase with thrombospondin type 1 motif 1 0.555 0.654 0.72
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 351
Gene Symbol: APP
APP
amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 0.984 7 0 1988 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
apolipoprotein E 0.338 0.962 1.9E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 0.955 1 0 1994 2019
Entrez Id: 361
Gene Symbol: AQP4
AQP4
aquaporin 4 0.456 0.885 2.3E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
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: 9619
Gene Symbol: ABCG1
ABCG1
ATP binding cassette subfamily G member 1 0.560 0.692 0.11
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.020 None 1.000 1 0 2007 2009
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: 23621
Gene Symbol: BACE1
BACE1
beta-secretase 1 0.559 0.769 0.88
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.070 None 1.000 2 0 2005 2018
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: 54014
Gene Symbol: BRWD1
BRWD1
bromodomain and WD repeat domain containing 1 0.839 0.192 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2002 2002
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: 10776
Gene Symbol: ARPP19
ARPP19
cAMP regulated phosphoprotein 19 0.839 0.231 0.77
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1385
Gene Symbol: CREB1
CREB1
cAMP responsive element binding protein 1 0.463 0.885 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008
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: 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: 820
Gene Symbol: CAMP
CAMP
cathelicidin antimicrobial peptide 0.466 0.846 4.4E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2006 2006
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: 1137
Gene Symbol: CHRNA4
CHRNA4
cholinergic receptor nicotinic alpha 4 subunit 0.492 0.808 8.5E-05
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7
cholinergic receptor nicotinic alpha 7 subunit 0.532 0.654 4.2E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2
cholinergic receptor nicotinic beta 2 subunit 0.617 0.308 7.3E-04
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2001 2001
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