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: 158
Gene Symbol: ADSL
ADSL 		P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.010 None 1.000 1 0 1992 1992
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.040 None 1.000 4 0 1993 1998
Entrez Id: 9577
Gene Symbol: BABAM2
BABAM2 		Q9NXR7 BRISC and BRCA1 A complex member 2 42 0.682 0.538 0.17 0.010 None 1.000 1 0 1993 1993
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.090 None 1.000 9 0 1995 2017
Entrez Id: 106478973
Gene Symbol: FMR1-IT1
FMR1-IT1 		FMR1 intronic transcript 1 29 0.716 0.385 0.010 None 1.000 1 0 1995 1995
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA 		fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation) 50 0.641 0.462 0.010 None 1.000 1 0 1995 1995
Entrez Id: 7290
Gene Symbol: HIRA
HIRA 		P54198 histone cell cycle regulator Nucleic acid binding 157 0.537 0.808 1.00 0.020 None 1.000 2 0 1996 1998
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.020 None 1.000 2 0 1996 2001
Entrez Id: 3481
Gene Symbol: IGF2
IGF2 		P01344 insulin like growth factor 2 604 0.390 0.885 4.4E-02 0.020 None 1.000 2 0 1997 2017
Entrez Id: 2735
Gene Symbol: GLI1
GLI1 		P08151 GLI family zinc finger 1 369 0.431 0.846 7.7E-14 0.020 None 1.000 2 0 1997 1997
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.300 None 1.000 3 0 1998 2001
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1 		P51843 nuclear receptor subfamily 0 group B member 1 Nuclear receptor 222 0.494 0.808 0.97 0.020 None 1.000 2 0 1998 2000
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		Q9UM47 notch receptor 3 418 0.435 0.808 0.41 0.020 None 1.000 2 0 1998 2004
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1 		Q12948 forkhead box C1 Transcription factor 242 0.483 0.846 0.95 0.020 None 1.000 2 0 1998 2014
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		P78504 jagged canonical Notch ligand 1 420 0.429 0.808 1.00 0.020 None 1.000 2 0 1998 2016
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 1998 1998
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 131 0.573 0.731 1.00 0.050 None 1.000 5 0 1999 2014
Entrez Id: 6657
Gene Symbol: SOX2
SOX2 		P48431 SRY-box transcription factor 2 Transcription factor 503 0.405 0.808 0.71 0.020 None 1.000 2 0 1999 2018
Entrez Id: 4281
Gene Symbol: MID1
MID1 		O15344 midline 1 77 0.621 0.654 0.98 0.020 None 1.000 2 0 1999 2002
Entrez Id: 6804
Gene Symbol: STX1A
STX1A 		Q16623 syntaxin 1A Transporter 74 0.621 0.654 0.98 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4990
Gene Symbol: SIX6
SIX6 		O95475 SIX homeobox 6 Transcription factor 84 0.588 0.654 0.52 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		Q99697 paired like homeodomain 2 248 0.489 0.808 0.98 0.040 None 1.000 4 0 2000 2018
Entrez Id: 1201
Gene Symbol: CLN3
CLN3 		Q13286 CLN3 lysosomal/endosomal transmembrane protein, battenin Transporter 120 0.572 0.692 1.3E-07 0.020 None 1.000 2 0 2000 2001
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		O14773 tripeptidyl peptidase 1 Enzyme 151 0.551 0.808 6.3E-07 0.020 None 1.000 2 0 2000 2001
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 604 0.398 0.885 1.00 0.020 None 1.000 2 0 2000 2014