Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.050 None 1.000 5 0 2005 2014
Entrez Id: 406984
Gene Symbol: MIR200B
MIR200B
microRNA 200b 180 0.500 0.769 0.040 None 1.000 4 0 2015 2019
Entrez Id: 100302174
Gene Symbol: MIR1307
MIR1307
microRNA 1307 38 0.659 0.577 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1732
Gene Symbol: DIH1
DIH1
diaphragmatic hernia 1 13 0.769 0.462 0.010 None 1.000 1 0 2015 2015
Entrez Id: 28471
Gene Symbol: IGHV1-12
IGHV1-12
immunoglobulin heavy variable 1-12 (pseudogene) 89 0.569 0.654 0.010 None 1.000 1 0 1992 1992
Entrez Id: 406884
Gene Symbol: MIRLET7B
MIRLET7B
microRNA let-7b 186 0.493 0.769 0.010 None 1.000 1 0 2018 2018
Entrez Id: 406919
Gene Symbol: MIR130A
MIR130A
microRNA 130a 141 0.522 0.808 0.010 None 1.000 1 0 2020 2020
Entrez Id: 407039
Gene Symbol: MIR33A
MIR33A
microRNA 33a 100 0.560 0.654 0.010 None 1.000 1 0 2019 2019
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 124 0.544 0.731 0.010 None 1.000 1 0 2020 2020
Entrez Id: 7240
Gene Symbol: TRV-CAC1-2
TRV-CAC1-2
tRNA-Val (anticodon CAC) 1-2 1 1.000 0.077 0.010 None 1.000 1 0 2019 2019
Entrez Id: 129446
Gene Symbol: XIRP2
XIRP2
A4UGR9 xin actin binding repeat containing 2 Cellular structure 9 0.821 0.308 2.1E-52 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.100 None 0 0
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 1
Entrez Id: 2255
Gene Symbol: FGF10
FGF10
O15520 fibroblast growth factor 10 Signaling 152 0.530 0.692 0.94 0.010 None 1.000 1 0 2020 2020
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
O15550 lysine demethylase 6A Epigenetic regulator 238 0.498 0.769 1.00 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.010 None 1.000 1 0 2012 2012
Entrez Id: 10085
Gene Symbol: EDIL3
EDIL3
O43854 EGF like repeats and discoidin domains 3 Enzyme 104 0.564 0.769 1.5E-04 0.010 None 1.000 1 0 1988 1988
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
O60216 RAD21 cohesin complex component 192 0.528 0.846 1.00 0.100 None 1.000 1 1 2019 2019
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
O60315 zinc finger E-box binding homeobox 2 Transcription factor 292 0.471 0.808 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6586
Gene Symbol: SLIT3
SLIT3
O75094 slit guidance ligand 3 62 0.623 0.615 0.75 0.020 None 1.000 2 0 2017 2018
Entrez Id: 2081
Gene Symbol: ERN1
ERN1
O75460 endoplasmic reticulum to nucleus signaling 1 Kinase 163 0.513 0.808 0.99 0.010 None 1.000 1 1 2017 2017
Entrez Id: 2239
Gene Symbol: GPC4
GPC4
O75487 glypican 4 181 0.547 0.769 0.93 0.100 None 0 0
Entrez Id: 7108
Gene Symbol: TM7SF2
TM7SF2
O76062 transmembrane 7 superfamily member 2 Enzyme 217 0.486 0.808 1.4E-07 0.010 None 1.000 1 0 2013 2013