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: 117581
Gene Symbol: TWIST2
TWIST2
twist family bHLH transcription factor 2 0.518 0.731 0.56
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.120 None 1.000 2 0 2015 2017
Entrez Id: 114769
Gene Symbol: CARD16
CARD16
caspase recruitment domain family member 16 0.695 0.615 0.38
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.030 None 1.000 3 0 2017 2018
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
ATP binding cassette subfamily B member 6 (Langereis blood group) 0.431 0.885 8.6E-19
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
signal transducer and activator of transcription 1 0.399 0.885 1.00
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7173
Gene Symbol: TPO
TPO
thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79058
Gene Symbol: ASPSCR1
ASPSCR1
ASPSCR1 tether for SLC2A4, UBX domain containing 0.653 0.538 4.4E-12
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Fraser extracellular matrix complex subunit 1 0.560 0.577 3.1E-45
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
progestagen associated endometrial protein 0.430 0.846 3.1E-08
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 431712
Gene Symbol: CMT2G
CMT2G
Charcot-Marie-Tooth disease, axonal, type 2G 1.000 0.077
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 31
Gene Symbol: ACACA
ACACA
acetyl-CoA carboxylase alpha 0.480 0.846 1.00
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2890
Gene Symbol: GRIA1
GRIA1
glutamate ionotropic receptor AMPA type subunit 1 0.570 0.577 1.00
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
epidermal growth factor receptor 0.295 0.885 0.37
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1828
Gene Symbol: DSG1
DSG1
desmoglein 1 0.606 0.538 0.93
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1312
Gene Symbol: COMT
COMT
catechol-O-methyltransferase 0.400 0.923 1.1E-06
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 1 2019 2019
Entrez Id: 102723356
Gene Symbol: ZFPM2-AS1
ZFPM2-AS1
ZFPM2 antisense RNA 1 0.736 0.385
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2020 2020
Entrez Id: 9790
Gene Symbol: BMS1
BMS1
BMS1 ribosome biogenesis factor 0.499 0.846 1.8E-04
CUI: C0266574
Disease: Ablepharon
Ablepharon
disease 0.010 None 1.000 1 0 2018 2018