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: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 1.000 None 0.966 265 105 1970 2019
Entrez Id: 2288
Gene Symbol: FKBP4
FKBP4
FKBP prolyl isomerase 4 0.532 0.769 0.16
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.200 None 1.000 3 0 2005 2007
Entrez Id: 5327
Gene Symbol: PLAT
PLAT
plasminogen activator, tissue type 0.445 0.885 5.7E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.100 None 0.857 14 0 2017 2020
Entrez Id: 10660
Gene Symbol: LBX1
LBX1
ladybird homeobox 1 0.736 0.462 0.68
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.100 None 1.000 13 1 2013 2019
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 0.578 0.692
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.100 None 1.000 11 0 2017 2019
Entrez Id: 6611
Gene Symbol: SMS
SMS
spermine synthase 0.491 0.846 0.97
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.100 None 1.000 11 0 2017 2019
Entrez Id: 4544
Gene Symbol: MTNR1B
MTNR1B
melatonin receptor 1B 0.588 0.731 6.5E-04
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.100 None 0.900 10 2 2007 2016
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.070 None 0.857 7 1 2006 2019
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.070 None 1.000 7 0 2011 2020
Entrez Id: 4146
Gene Symbol: MATN1
MATN1
matrilin 1 0.644 0.615 2.6E-03
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.060 None 1.000 6 1 2009 2014
Entrez Id: 3569
Gene Symbol: IL6
IL6
interleukin 6 0.248 0.962 0.32
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.060 None 1.000 6 1 2007 2019
Entrez Id: 2618
Gene Symbol: GART
GART
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase 0.631 0.615 2.8E-04
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.050 None 1.000 5 0 1996 2013
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
estrogen receptor 2 0.400 0.923 4.5E-08
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.050 None 1.000 5 1 2011 2017
Entrez Id: 10606
Gene Symbol: PAICS
PAICS
phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase 0.711 0.346 2.8E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.050 None 1.000 5 0 1996 2013
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.050 None 1.000 5 3 2015 2019
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
adhesion G protein-coupled receptor G6 0.666 0.385 6.6E-05
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.050 None 1.000 5 5 2015 2019
Entrez Id: 801
Gene Symbol: CALM1
CALM1
calmodulin 1 0.472 0.808 0.94
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.040 None 1.000 4 2 2009 2016
Entrez Id: 2153
Gene Symbol: F5
F5
coagulation factor V 0.441 0.846 5.9E-15
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.040 None 0.750 4 0 2006 2017
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.040 None 1.000 4 1 2011 2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.040 None 1.000 4 2 2006 2017
Entrez Id: 100128998
Gene Symbol: C20orf181
C20orf181
chromosome 20 open reading frame 181 0.479 0.885
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.040 None 1.000 4 0 2017 2019
Entrez Id: 7166
Gene Symbol: TPH1
TPH1
tryptophan hydroxylase 1 0.553 0.731 3.2E-07
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.030 None 1.000 3 1 2008 2011
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.030 None 1.000 3 0 2017 2020
Entrez Id: 164656
Gene Symbol: TMPRSS6
TMPRSS6
transmembrane serine protease 6 0.584 0.654 4.1E-10
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.030 None 1.000 3 0 2011 2016
Entrez Id: 54796
Gene Symbol: BNC2
BNC2
basonuclin 2 0.612 0.615 0.93
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
disease 0.030 None 1.000 3 2 2015 2018