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: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 1.000 definitive 1.000 53 9 2001 2020
Entrez Id: 3630
Gene Symbol: INS
INS
P01308 insulin 405 0.445 0.923 0.30 0.300 None 1.000 1 0 2009 2009
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.020 None 1.000 2 0 2009 2010
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2005 2010
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
Q7Z3B3 KAT8 regulatory NSL complex subunit 1 140 0.592 0.731 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 80339
Gene Symbol: PNPLA3
PNPLA3
Q9NST1 patatin like phospholipase domain containing 3 Enzyme 132 0.556 0.692 5.7E-08 0.010 None 1.000 1 1 2018 2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 225 0.510 0.846 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5662
Gene Symbol: PSD
PSD
A5PKW4 pleckstrin and Sec7 domain containing 59 0.626 0.654 0.90 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
Q9P267 methyl-CpG binding domain protein 5 120 0.581 0.808 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 50944
Gene Symbol: SHANK1
SHANK1
Q9Y566 SH3 and multiple ankyrin repeat domains 1 35 0.678 0.385 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
P46531 notch receptor 1 693 0.369 0.885 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
Q9UPX8 SH3 and multiple ankyrin repeat domains 2 49 0.663 0.385 8.4E-07 0.010 None 1.000 1 0 2014 2014
Entrez Id: 23542
Gene Symbol: MAPK8IP2
MAPK8IP2
Q13387 mitogen-activated protein kinase 8 interacting protein 2 Signaling 51 0.628 0.654 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
P05019 insulin like growth factor 1 1206 0.318 0.885 0.27 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1196
Gene Symbol: CLK2
CLK2
P49760 CDC like kinase 2 Kinase 27 0.691 0.462 1.00 0.010 None 1.000 1 0 2018 2018