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: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 4
Entrez Id: 9820
Gene Symbol: CUL7
CUL7
Q14999 cullin 7 90 0.633 0.500 2.6E-21 0.100 None 1.000 1 3 2019 2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
O75147 obscurin like cytoskeletal adaptor 1 64 0.686 0.308 1.0E-25 0.100 None 1.000 1 2 2019 2019
Entrez Id: 89953
Gene Symbol: KLC4
KLC4
Q9NSK0 kinesin light chain 4 31 0.743 0.308 1.2E-03 0.100 None 1.000 1 2 2019 2019
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
Q12767 transmembrane protein 94 103 0.628 0.654 2.8E-14 0.100 None 0 2
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 2
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
P05549 transcription factor AP-2 alpha Transcription factor 250 0.488 0.769 0.99 0.100 None 1.000 1 1 2015 2015
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
P78357 contactin associated protein 1 166 0.554 0.577 3.4E-05 0.100 None 1.000 1 1 2017 2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
Q14004 cyclin dependent kinase 13 Kinase 141 0.606 0.692 0.91 0.100 None 1.000 1 1 2017 2017
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
P84243 H3.3 histone A 134 0.559 0.692 0.12 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
Q9H4W6 EBF transcription factor 3 124 0.595 0.731 1.00 0.100 None 0 1
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
Q8NEZ3 WD repeat domain 19 143 0.554 0.769 4.6E-11 0.100 None 0 1
Entrez Id: 283635
Gene Symbol: FAM177A1
FAM177A1
Q8N128 family with sequence similarity 177 member A1 Enzyme 14 0.769 0.231 1.2E-03 0.100 None 0 1
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
Q9UPW6 SATB homeobox 2 Transcription factor 233 0.503 0.769 1.00 0.100 None 0 1
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 1
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.110 None 1.000 1 0 2011 2011
Entrez Id: 526
Gene Symbol: ATP6V1B2
ATP6V1B2
P21281 ATPase H+ transporting V1 subunit B2 Transporter 101 0.606 0.577 0.99 0.100 None 0 0
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: 57697
Gene Symbol: FANCM
FANCM
Q8IYD8 FA complementation group M Enzyme 147 0.543 0.731 2.4E-15 0.100 None 0 0
Entrez Id: 9409
Gene Symbol: PEX16
PEX16
Q9Y5Y5 peroxisomal biogenesis factor 16 124 0.597 0.615 8.3E-05 0.100 None 0 0
Entrez Id: 5824
Gene Symbol: PEX19
PEX19
P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0