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: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.100 None 0.963 27 2 1999 2019
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.100 None 0.962 26 0 2004 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.100 None 1.000 20 0 1994 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.100 None 0.947 19 0 1991 2019
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		P46531 notch receptor 1 693 0.369 0.885 1.00 0.400 None 1.000 12 2 2005 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.100 None 1.000 12 0 1999 2017
Entrez Id: 92579
Gene Symbol: G6PC3
G6PC3 		Q9BUM1 glucose-6-phosphatase catalytic subunit 3 79 0.606 0.731 4.7E-06 0.100 None 1.000 11 0 2009 2015
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		Q02962 paired box 2 216 0.495 0.731 0.67 0.100 None 1.000 10 0 1999 2014
Entrez Id: 1641
Gene Symbol: DCX
DCX 		O43602 doublecortin 175 0.511 0.769 0.30 0.080 None 1.000 8 0 1999 2019
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.080 None 1.000 8 0 1997 2019
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		Q99697 paired like homeodomain 2 248 0.489 0.808 0.98 0.080 None 1.000 8 0 2002 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.080 None 1.000 8 0 2012 2020
Entrez Id: 6469
Gene Symbol: SHH
SHH 		Q15465 sonic hedgehog signaling molecule 303 0.461 0.846 0.98 0.070 None 1.000 7 0 1996 2017
Entrez Id: 2138
Gene Symbol: EYA1
EYA1 		Q99502 EYA transcriptional coactivator and phosphatase 1 168 0.531 0.731 0.95 0.350 None 1.000 6 0 1999 2018
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		P21333 filamin A 571 0.419 0.846 1.00 0.060 None 1.000 6 0 2003 2013
Entrez Id: 25914
Gene Symbol: RTTN
RTTN 		Q86VV8 rotatin 100 0.619 0.654 9.0E-34 0.060 None 0.833 6 0 2012 2019
Entrez Id: 2626
Gene Symbol: GATA4
GATA4 		P43694 GATA binding protein 4 336 0.458 0.846 0.49 0.060 None 1.000 6 0 2006 2018
Entrez Id: 3239
Gene Symbol: HOXD13
HOXD13 		P35453 homeobox D13 259 0.483 0.808 8.6E-03 0.060 None 0.833 6 0 2000 2019
Entrez Id: 4281
Gene Symbol: MID1
MID1 		O15344 midline 1 77 0.621 0.654 0.98 0.060 None 0.833 6 0 2005 2018
Entrez Id: 7248
Gene Symbol: TSC1
TSC1 		Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.060 None 1.000 6 0 1997 2014
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4 		Q07065 cytoskeleton associated protein 4 332 0.436 0.731 0.51 0.050 None 1.000 5 0 2002 2010
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.050 None 1.000 5 0 2009 2019
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		Q12946 forkhead box F1 135 0.540 0.692 0.96 0.050 None 1.000 5 0 2009 2018
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.050 None 1.000 5 0 1993 2017
Entrez Id: 64220
Gene Symbol: STRA6
STRA6 		Q9BX79 signaling receptor and transporter of retinol STRA6 100 0.597 0.731 1.5E-10 0.050 None 1.000 5 0 2007 2016