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: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.500 None 0.964 0 0 1997 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
insulin like growth factor 1 0.318 0.885 0.27
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.480 None 1.000 0 0 2000 2019
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.440 None 1.000 0 0 2007 2019
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CST telomere replication complex component 1 0.601 0.538 1.6E-11
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.400 None 1.000 0 0 2012 2012
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.200 None 0.939 0 0 2000 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.200 None 1.000 0 0 2010 2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.140 None 1.000 0 0 2008 2019
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
notch receptor 2 0.441 0.808 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.140 None 1.000 0 0 2016 2018
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
collagen type I alpha 1 chain 0.430 0.808 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.140 None 1.000 0 0 2001 2006
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.120 None 1.000 0 0 2012 2018
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.120 None 1.000 0 0 2006 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 2629
Gene Symbol: GBA
GBA
glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 90993
Gene Symbol: CREB3L1
CREB3L1
cAMP responsive element binding protein 3 like 1 0.601 0.615 0.98
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
pyrroline-5-carboxylate reductase 1 0.570 0.654 2.0E-04
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3
beta-1,3-glucuronyltransferase 3 0.621 0.538 2.7E-08
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
SBDS ribosome maturation factor 0.601 0.692 6.2E-05
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
elongation factor like GTPase 1 0.638 0.577 5.1E-08
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 92344
Gene Symbol: GORAB
GORAB
golgin, RAB6 interacting 0.647 0.538 6.7E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 55811
Gene Symbol: ADCY10
ADCY10
adenylate cyclase 10 0.663 0.654 7.4E-41
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
PROP paired-like homeobox 1 0.576 0.615 8.8E-02
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2005 2005
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
general transcription factor IIi 0.500 0.808 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2016 2016
Entrez Id: 5358
Gene Symbol: PLS3
PLS3
plastin 3 0.656 0.500 0.99
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
signal transducer and activator of transcription 3 0.320 0.923 1.00
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.110 None 1.000 0 0 2018 2018