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: 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: 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: 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: 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: 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: 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: 5981
Gene Symbol: RFC1
RFC1 		replication factor C subunit 1 0.541 0.808 0.97
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease 0.100 None 0.833 1 0 2005 2017
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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