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: 2623
Gene Symbol: GATA1
GATA1
GATA binding protein 1 0.483 0.808 0.95
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.400 None 0.981 11 0 2002 2020
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: 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: 1827
Gene Symbol: RCAN1
RCAN1
regulator of calcineurin 1 0.572 0.808 1.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.400 None 0.965 6 0 1995 2019
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.300 None 0.991 6 0 1996 2020
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
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 1.000 3 0 2007 2018
Entrez Id: 7001
Gene Symbol: PRDX2
PRDX2
peroxiredoxin 2 0.474 0.885 8.7E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.330 None 1.000 3 0 2001 2003
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
Janus kinase 2 0.385 0.885 0.65
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 1.000 3 0 2007 2017
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
superoxide dismutase 1 0.379 0.962 0.18
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.400 None 1.000 3 0 1977 2017
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: 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: 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: 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: 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: 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: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.400 None 1.000 2 0 1988 2019
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: 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
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 0.970 2 0 1997 2019
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: 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: 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: 63976
Gene Symbol: PRDM16
PRDM16
PR/SET domain 16 0.522 0.808 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.010 None 1.000 1 0 2008 2008