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: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.100 None 1.000 16 0 1998 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN
elastin 0.415 0.885 2.1E-14
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.040 None 1.000 4 0 1994 2020
Entrez Id: 10882
Gene Symbol: C1QL1
C1QL1
complement C1q like 1 0.612 0.654 5.6E-06
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.040 None 1.000 4 0 2017 2019
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
potassium inwardly rectifying channel subfamily J member 10 0.599 0.654 0.15
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.030 None 1.000 3 0 2011 2013
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.030 None 1.000 3 0 2008 2019
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.030 None 1.000 3 0 1997 2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.030 None 0.667 3 0 2017 2018
Entrez Id: 5021
Gene Symbol: OXTR
OXTR
oxytocin receptor 0.541 0.769 7.1E-04
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
LDL receptor related protein 2 0.491 0.846 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2008 2008
Entrez Id: 2335
Gene Symbol: FN1
FN1
fibronectin 1 0.365 0.962 1.4E-03
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 1994 2018
Entrez Id: 7082
Gene Symbol: TJP1
TJP1
tight junction protein 1 0.576 0.692 1.00
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 2353
Gene Symbol: FOS
FOS
Fos proto-oncogene, AP-1 transcription factor subunit 0.411 0.885 0.26
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2017 2018
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 0.500 2 0 2017 2019
Entrez Id: 2908
Gene Symbol: NR3C1
NR3C1
nuclear receptor subfamily 3 group C member 1 0.393 0.885 0.97
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 0.500 2 0 2017 2019
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
matrix metallopeptidase 9 0.305 0.923 1.9E-17
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2008 2010
Entrez Id: 2740
Gene Symbol: GLP1R
GLP1R
glucagon like peptide 1 receptor 0.471 0.846 0.29
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2018 2019
Entrez Id: 4852
Gene Symbol: NPY
NPY
neuropeptide Y 0.447 0.846 0.14
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2019 2019
Entrez Id: 6750
Gene Symbol: SST
SST
somatostatin 0.399 0.885 0.34
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2018 2018
Entrez Id: 51289
Gene Symbol: RXFP3
RXFP3
relaxin family peptide receptor 3 0.769 0.192 1.6E-13
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 1317
Gene Symbol: SLC31A1
SLC31A1
solute carrier family 31 member 1 0.612 0.577 6.5E-02
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2010 2017
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
matrix metallopeptidase 2 0.333 0.923 0.84
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.020 None 1.000 2 0 2017 2020
Entrez Id: 55814
Gene Symbol: BDP1
BDP1
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 0.890 0.154 1.3E-21
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
transmembrane serine protease 3 0.650 0.538 6.1E-11
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease 0.010 None 1.000 1 0 2002 2002