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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 6663
Gene Symbol: SOX10
SOX10
P56693 SRY-box transcription factor 10 334 0.461 0.808 0.99 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5538
Gene Symbol: PPT1
PPT1
P50897 palmitoyl-protein thioesterase 1 Enzyme 112 0.593 0.808 4.9E-05 0.010 None 1.000 1 0 2000 2000
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: 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: 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: 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: 92292
Gene Symbol: GLYATL1
GLYATL1
Q969I3 glycine-N-acyltransferase like 1 11 0.839 0.115 3.4E-03 0.010 None 1.000 1 0 2001 2001
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
P21675 TATA-box binding protein associated factor 1 Kinase 139 0.581 0.808 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 58508
Gene Symbol: KMT2C
KMT2C
Q8NEZ4 lysine methyltransferase 2C 114 0.558 0.692 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
P51816 AF4/FMR2 family member 2 Transcription factor 66 0.636 0.538 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 1602
Gene Symbol: DACH1
DACH1
Q9UI36 dachshund family transcription factor 1 Transcription factor 74 0.604 0.538 1.00 0.010 None 1.000 1 0 2001 2001
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: 6926
Gene Symbol: TBX3
TBX3
O15119 T-box transcription factor 3 Transcription factor 179 0.525 0.769 0.99 0.020 None 1.000 2 0 2002 2002
Entrez Id: 27445
Gene Symbol: PCLO
PCLO
Q9Y6V0 piccolo presynaptic cytomatrix protein 59 0.656 0.577 1.00 0.010 None 1.000 1 0 2002 2002