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: 26053
Gene Symbol: AUTS2
AUTS2
Q8WXX7 activator of transcription and developmental regulator AUTS2 149 0.569 0.846 1.00 0.100 None 0 1
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
Q96A33 coiled-coil domain containing 47 55 0.678 0.462 6.1E-08 0.100 None 0 0
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
Q76L83 ASXL transcriptional regulator 2 89 0.617 0.692 1.00 0.100 None 0 1
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
Q2TAL8 glutamine rich 1 Enzyme modulator 60 0.716 0.423 1.00 0.100 None 0 1
Entrez Id: 4841
Gene Symbol: NONO
NONO
Q15233 non-POU domain containing octamer binding Nucleic acid binding 142 0.554 0.731 0.99 0.100 None 0 0
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 0 0
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
P12109 collagen type VI alpha 1 chain Receptor 164 0.587 0.731 1.00 0.100 None 0 1
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2
P35227 polycomb group ring finger 2 114 0.579 0.615 0.86 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 1
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
Q8N9I0 synaptotagmin 2 Transporter 94 0.647 0.538 0.98 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 1
Entrez Id: 372
Gene Symbol: ARCN1
ARCN1
P48444 archain 1 Transporter 39 0.705 0.462 1.00 0.100 None 0 0
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Q9UJ55 MAGE family member L2 Cell adhesion 184 0.560 0.654 0.98 0.100 None 0 1
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8
Q9BZR9 tripartite motif containing 8 121 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.100 None 0 0
Entrez Id: 3423
Gene Symbol: IDS
IDS
P22304 iduronate 2-sulfatase 136 0.559 0.769 0.95 0.100 None 0 0
Entrez Id: 1763
Gene Symbol: DNA2
DNA2
P51530 DNA replication helicase/nuclease 2 71 0.626 0.731 1.3E-18 0.100 None 0 0
Entrez Id: 6452
Gene Symbol: SH3BP2
SH3BP2
P78314 SH3 domain binding protein 2 65 0.623 0.654 1.2E-11 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
P53007 solute carrier family 25 member 1 Transporter 168 0.553 0.731 5.9E-02 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
Q9GZV3 solute carrier family 5 member 7 Transporter 127 0.597 0.654 1.5E-02 0.100 None 0 0
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
Q5TGY3 AT-hook DNA binding motif containing 1 44 0.700 0.500 1.00 0.100 None 0 0