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: 5993
Gene Symbol: RFX5
RFX5
regulatory factor X5 0.650 0.577 2.0E-11
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 0 0
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
doublecortin domain containing 2 0.546 0.769 5.7E-10
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 0 0
Entrez Id: 8625
Gene Symbol: RFXANK
RFXANK
regulatory factor X associated ankyrin containing protein 0.644 0.577 8.7E-06
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 0 0
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
class II major histocompatibility complex transactivator 0.536 0.808 1.4E-07
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 0 0
Entrez Id: 5994
Gene Symbol: RFXAP
RFXAP
regulatory factor X associated protein 0.663 0.577 2.3E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 0 0
Entrez Id: 4485
Gene Symbol: MST1
MST1
macrophage stimulating 1 0.465 0.885 4.8E-19
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.400 None 1.000 4 1 2011 2017
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.040 None 1.000 4 0 2003 2009
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
ATP binding cassette subfamily B member 4 0.529 0.615 2.2E-07
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.320 None 1.000 4 0 2006 2019
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
SH2B adaptor protein 3 0.527 0.692 1.0E-04
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 3 1 2013 2017
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
ataxin 2 0.482 0.808 0.85
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 3 1 2013 2017
Entrez Id: 10666
Gene Symbol: CD226
CD226
CD226 molecule 0.548 0.769 3.9E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 3 2 2013 2017
Entrez Id: 25865
Gene Symbol: PRKD2
PRKD2
protein kinase D2 0.666 0.538 1.00
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 1 2013 2017
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
major histocompatibility complex, class II, DR beta 1 0.333 0.923 1.1E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.020 None 1.000 2 0 2006 2016
Entrez Id: 53347
Gene Symbol: UBASH3A
UBASH3A
ubiquitin associated and SH3 domain containing A 0.638 0.538 1.0E-10
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.400 None 1.000 2 1 2016 2017
Entrez Id: 29108
Gene Symbol: PYCARD
PYCARD
PYD and CARD domain containing 0.457 0.808 2.0E-04
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 79258
Gene Symbol: MMEL1
MMEL1
membrane metalloendopeptidase like 1 0.606 0.692 1.2E-22
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 1 2013 2017
Entrez Id: 2859
Gene Symbol: GPR35
GPR35
G protein-coupled receptor 35 0.587 0.654 4.9E-03
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 2 2013 2016
Entrez Id: 23235
Gene Symbol: SIK2
SIK2
salt inducible kinase 2 0.674 0.577 1.00
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 1 2013 2017
Entrez Id: 51564
Gene Symbol: HDAC7
HDAC7
histone deacetylase 7 0.597 0.654 1.00
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 1 2013 2016
Entrez Id: 23274
Gene Symbol: CLEC16A
CLEC16A
C-type lectin domain containing 16A 0.612 0.654 0.28
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 2 2016 2017
Entrez Id: 541471
Gene Symbol: MIR4435-2HG
MIR4435-2HG
MIR4435-2 host gene 0.604 0.692
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 2 2011 2017
Entrez Id: 11262
Gene Symbol: SP140
SP140
SP140 nuclear body protein 0.691 0.577 5.0E-08
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.100 None 1.000 2 2 2016 2018
Entrez Id: 8209
Gene Symbol: GATD3A
GATD3A
glutamine amidotransferase like class 1 domain containing 3A 0.619 0.654 3.0E-05
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.110 None 1.000 2 1 2013 2016
Entrez Id: 4843
Gene Symbol: NOS2
NOS2
nitric oxide synthase 2 0.364 0.923 4.0E-15
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.400 None 1.000 2 2 2003 2016
Entrez Id: 3558
Gene Symbol: IL2
IL2
interleukin 2 0.336 0.885 0.48
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
disease 0.020 None 1.000 2 0 2017 2018