Source: BEFREE

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: 1610
Gene Symbol: DAO
DAO
D-amino acid oxidase 0.636 0.615 6.2E-22
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8671
Gene Symbol: SLC4A4
SLC4A4
solute carrier family 4 member 4 0.644 0.692 1.00
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 79054
Gene Symbol: TRPM8
TRPM8
transient receptor potential cation channel subfamily M member 8 0.553 0.808 4.6E-29
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7414
Gene Symbol: VCL
VCL
vinculin 0.575 0.654 4.7E-02
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
tachykinin precursor 1 0.424 0.923 0.75
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
sodium voltage-gated channel alpha subunit 5 0.513 0.654 0.91
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 1 2006 2006
Entrez Id: 6285
Gene Symbol: S100B
S100B
S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3773
Gene Symbol: KCNJ16
KCNJ16
potassium inwardly rectifying channel subfamily J member 16 0.861 0.385 8.9E-12
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3484
Gene Symbol: IGFBP1
IGFBP1
insulin like growth factor binding protein 1 0.502 0.808 9.5E-04
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 1998 1998
Entrez Id: 3383
Gene Symbol: ICAM1
ICAM1
intercellular adhesion molecule 1 0.364 0.962 3.5E-02
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2003 2003
Entrez Id: 213
Gene Symbol: ALB
ALB
albumin 0.317 0.962 0.64
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8929
Gene Symbol: PHOX2B
PHOX2B
paired like homeobox 2B 0.565 0.731 0.94
CUI: C0001127
Disease: Acidosis, Respiratory
Acidosis, Respiratory
phenotype 0.010 None 1.000 1 0 2019 2019