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: 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: 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: 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: 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: 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: 1291
Gene Symbol: COL6A1
COL6A1
collagen type VI alpha 1 chain 0.587 0.731 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.080 None 1.000 1 0 1989 2015
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: 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: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.070 None 1.000 1 0 1992 2019
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: 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: 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: 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: 6493
Gene Symbol: SIM2
SIM2
SIM bHLH transcription factor 2 0.619 0.731 0.20
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 1.000 1 0 1995 2015
Entrez Id: 5069
Gene Symbol: PAPPA
PAPPA
pappalysin 1 0.558 0.692 0.16
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 0.923 1 0 1995 2018
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: 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: 2078
Gene Symbol: ERG
ERG
ETS transcription factor ERG 0.453 0.808 0.96
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 1.000 1 0 1996 2020
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: 3559
Gene Symbol: IL2RA
IL2RA
interleukin 2 receptor subunit alpha 0.389 0.885 5.5E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.020 None 1.000 1 0 1998 2012
Entrez Id: 3623
Gene Symbol: INHA
INHA
inhibin subunit alpha 0.578 0.615 6.5E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.020 None 1.000 1 0 1998 2003
Entrez Id: 10989
Gene Symbol: IMMT
IMMT
inner membrane mitochondrial protein 0.576 0.846 1.3E-02
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.020 None 1.000 1 0 1998 2002
Entrez Id: 1826
Gene Symbol: DSCAM
DSCAM
DS cell adhesion molecule 0.686 0.385 1.00
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
disease 0.100 None 1.000 1 0 1998 2019
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: 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