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: 100288687
Gene Symbol: DUX4
DUX4
Q9UBX2 double homeobox 4 79 0.604 0.500 0.100 None 0 0
Entrez Id: 10984
Gene Symbol: KCNQ1OT1
KCNQ1OT1
KCNQ1 opposite strand/antisense transcript 1 159 0.534 0.731 0.100 None 0 0
Entrez Id: 2464
Gene Symbol: FRA16E
FRA16E
fragile site, distamycin A type, rare, fra(16)(p12.1) 6 0.931 0.077 0.100 None 0 0
Entrez Id: 283120
Gene Symbol: H19
H19
H19 imprinted maternally expressed transcript 242 0.494 0.923 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY
Q05066 sex determining region Y Transcription factor 315 0.456 0.808 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
O15360 FA complementation group A 211 0.505 0.731 1.6E-68 0.100 None 0 0
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.100 None 0 0
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Q86XX4 Fraser extracellular matrix complex subunit 1 122 0.560 0.577 3.1E-45 0.100 None 0 0
Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 136 0.555 0.731 1.1E-44 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 0 0
Entrez Id: 285025
Gene Symbol: CCDC141
CCDC141
Q6ZP82 coiled-coil domain containing 141 61 0.666 0.538 1.6E-33 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
Entrez Id: 2177
Gene Symbol: FANCD2
FANCD2
Q9BXW9 FA complementation group D2 272 0.479 0.885 1.1E-30 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-23 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.010 None 1.000 1 0 2012 2012
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.100 None 0 0
Entrez Id: 57560
Gene Symbol: IFT80
IFT80
Q9P2H3 intraflagellar transport 80 109 0.575 0.692 1.4E-19 0.100 None 0 0
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1
Q9BXS0 collagen type XXV alpha 1 chain 84 0.599 0.538 1.6E-18 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 6870
Gene Symbol: TACR3
TACR3
P29371 tachykinin receptor 3 G-protein coupled receptor 147 0.553 0.769 1.8E-17 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.100 None 0 0
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 0
Entrez Id: 2006
Gene Symbol: ELN
ELN
P15502 elastin 545 0.415 0.885 2.1E-14 0.010 None 1.000 1 0 2002 2002