Source: ALL
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: 65109
Gene Symbol: UPF3B
UPF3B 		Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 99 0.619 0.615 0.98 0.040 None 1.000 4 4 2007 2013
Entrez Id: 7503
Gene Symbol: XIST
XIST 		X inactive specific transcript 146 0.522 0.808 0.040 None 0.500 4 0 2000 2004
Entrez Id: 9980
Gene Symbol: DOP1B
DOP1B 		Q9Y3R5 DOP1 leucine zipper like protein B 6 0.861 0.192 7.5E-21 0.040 None 1.000 4 0 2003 2009
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 438 0.428 0.808 1.00 0.030 None 1.000 3 0 2004 2012
Entrez Id: 1637
Gene Symbol: DCR
DCR 		Down syndrome chromosome region 32 0.674 0.538 0.030 None 1.000 3 0 1993 1994
Entrez Id: 197131
Gene Symbol: UBR1
UBR1 		Q8IWV7 ubiquitin protein ligase E3 component n-recognin 1 95 0.612 0.731 5.5E-03 0.030 None 1.000 3 0 2005 2015
Entrez Id: 23133
Gene Symbol: PHF8
PHF8 		Q9UPP1 PHD finger protein 8 75 0.631 0.577 1.00 0.130 None 1.000 3 3 2005 2010
Entrez Id: 24140
Gene Symbol: FTSJ1
FTSJ1 		Q9UET6 FtsJ RNA 2'-O-methyltransferase 1 57 0.659 0.577 0.99 0.030 None 1.000 3 0 2004 2008
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.030 None 0.667 3 0 2004 2009
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		P05019 insulin like growth factor 1 1206 0.318 0.885 0.27 0.030 None 0.667 3 0 2003 2018
Entrez Id: 4412
Gene Symbol: MRX49
MRX49 		mental retardation, X-linked 49 7 0.821 0.385 0.030 None 1.000 3 0 1999 2008
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.030 None 1.000 3 1 1982 2019
Entrez Id: 7502
Gene Symbol: XIC
XIC 		X chromosome inactivation center 9 0.821 0.462 0.030 None 0.667 3 0 1992 1997
Entrez Id: 760
Gene Symbol: CA2
CA2 		P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.030 None 1.000 3 1 2002 2002
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.030 None 1.000 3 0 2003 2005
Entrez Id: 8422
Gene Symbol: MEHMO
MEHMO 		mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome 7 0.890 0.269 0.030 None 1.000 3 0 1998 2018
Entrez Id: 8794
Gene Symbol: TNFRSF10C
TNFRSF10C 		O14798 TNF receptor superfamily member 10c 89 0.578 0.731 3.2E-06 0.030 None 1.000 3 0 1994 2005
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.030 None 1.000 3 0 2009 2012
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3 		P00387 cytochrome b5 reductase 3 73 0.638 0.654 1.9E-04 0.020 None 1.000 2 0 1987 2018
Entrez Id: 1734
Gene Symbol: DIO2
DIO2 		Q92813 iodothyronine deiodinase 2 79 0.590 0.731 0.62 0.020 None 1.000 2 2 2004 2012
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.020 None 1.000 2 0 1996 1998
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2 		P51648 aldehyde dehydrogenase 3 family member A2 78 0.619 0.769 9.4E-06 0.020 None 1.000 2 0 2012 2014
Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2 		Q9UPX8 SH3 and multiple ankyrin repeat domains 2 49 0.663 0.385 8.4E-07 0.020 None 1.000 2 0 2010 2010
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.020 None 1.000 2 0 2007 2009
Entrez Id: 2448
Gene Symbol: FRA12A
FRA12A 		fragile site, folic acid type, rare, fra(12)(q13.1) 2 1.000 0.192 0.020 None 1.000 2 0 2007 2009