Source: HPO

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: 8694
Gene Symbol: DGAT1
DGAT1
diacylglycerol O-acyltransferase 1 0.621 0.615 1.4E-17
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.440 None 1.000 0 0 2012 2018
Entrez Id: 2984
Gene Symbol: GUCY2C
GUCY2C
guanylate cyclase 2C 0.599 0.577 1.4E-30
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.430 None 1.000 0 0 2012 2019
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
myosin VB 0.641 0.731 3.4E-23
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.410 None 1.000 0 0 2008 2017
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.200 None 1.000 0 0 2006 2019
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3
solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.200 None 1.000 0 0 1996 2020
Entrez Id: 3075
Gene Symbol: CFH
CFH
complement factor H 0.441 0.885 0.86
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.170 None 1.000 0 0 2003 2017
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.150 None 1.000 0 0 2009 2018
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
cytotoxic T-lymphocyte associated protein 4 0.369 0.923 0.94
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.140 None 1.000 0 0 2018 2020
Entrez Id: 50674
Gene Symbol: NEUROG3
NEUROG3
neurogenin 3 0.647 0.500 6.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.140 None 1.000 0 0 2006 2016
Entrez Id: 3938
Gene Symbol: LCT
LCT
lactase 0.581 0.808 6.0E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.130 None 1.000 0 0 2018 2019
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
ATPase phospholipid transporting 8B1 0.610 0.500 2.8E-10
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.120 None 1.000 0 0 2003 2014
Entrez Id: 5122
Gene Symbol: PCSK1
PCSK1
proprotein convertase subtilisin/kexin type 1 0.548 0.615 2.7E-09
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.120 None 1.000 0 0 2013 2013
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
ANTXR cell adhesion molecule 2 0.568 0.808 8.7E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.120 None 1.000 0 0 2015 2017
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
solute carrier family 12 member 3 0.493 0.808 3.0E-32
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None < 0.001 0 0 2015 2015
Entrez Id: 7482
Gene Symbol: WNT2B
WNT2B
Wnt family member 2B 0.644 0.615 3.8E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2018 2018
Entrez Id: 6696
Gene Symbol: SPP1
SPP1
secreted phosphoprotein 1 0.353 0.885 2.1E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 1776
Gene Symbol: DNASE1L3
DNASE1L3
deoxyribonuclease 1 like 3 0.575 0.769 3.0E-05
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2016 2016
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
ATP binding cassette subfamily B member 11 0.566 0.654 1.6E-12
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 170302
Gene Symbol: ARX
ARX
aristaless related homeobox 0.516 0.654 0.91
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2015 2015
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
RecQ like helicase 4 0.496 0.808 3.3E-35
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2005 2005
Entrez Id: 6476
Gene Symbol: SI
SI
sucrase-isomaltase 0.569 0.692 3.9E-60
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 1998 1998
Entrez Id: 4683
Gene Symbol: NBN
NBN
nibrin 0.467 0.808 2.2E-16
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
sodium channel epithelial 1 subunit alpha 0.601 0.577 1.1E-11
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2008 2008
Entrez Id: 6499
Gene Symbol: SKIV2L
SKIV2L
Ski2 like RNA helicase 0.615 0.654 1.3E-22
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2019 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0011991
Disease: Diarrhea
Diarrhea
phenotype 0.110 None 1.000 0 0 2005 2005