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: 5191
Gene Symbol: PEX7
PEX7
O00628 peroxisomal biogenesis factor 7 100 0.603 0.615 8.2E-13 0.100 None 0 0
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
P36543 ATPase H+ transporting V1 subunit E1 Transporter 105 0.610 0.769 0.53 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.100 None 0 0
Entrez Id: 54
Gene Symbol: ACP5
ACP5
P13686 acid phosphatase 5, tartrate resistant 130 0.561 0.731 7.9E-02 0.100 None 0 0
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.100 None 0 0
Entrez Id: 546
Gene Symbol: ATRX
ATRX
P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
Q6W2J9 BCL6 corepressor 314 0.471 0.808 1.00 0.100 None 0 0
Entrez Id: 55131
Gene Symbol: RBM28
RBM28
Q9NW13 RNA binding motif protein 28 44 0.682 0.423 6.2E-12 0.100 None 0 0
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
Q9HC07 transmembrane protein 165 Transporter 37 0.711 0.385 0.28 0.100 None 0 0
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
Q02750 mitogen-activated protein kinase kinase 1 Kinase 389 0.439 0.846 0.90 0.100 None 0 0
Entrez Id: 56270
Gene Symbol: WDR45B
WDR45B
Q5MNZ6 WD repeat domain 45B 19 0.760 0.269 0.16 0.100 None 0 0
Entrez Id: 56704
Gene Symbol: JPH1
JPH1
Q9HDC5 junctophilin 1 29 0.705 0.269 0.77 0.100 None 0 0
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 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 6651
Gene Symbol: SON
SON
P18583 SON DNA binding protein 154 0.565 0.769 1.00 0.100 None 0 0
Entrez Id: 84068
Gene Symbol: SLC10A7
SLC10A7
Q0GE19 solute carrier family 10 member 7 Transporter 37 0.711 0.269 2.0E-05 0.100 None 0 0
Entrez Id: 84896
Gene Symbol: ATAD1
ATAD1
Q8NBU5 ATPase family AAA domain containing 1 126 0.545 0.692 1.3E-03 0.100 None 0 0
Entrez Id: 84919
Gene Symbol: PPP1R15B
PPP1R15B
Q5SWA1 protein phosphatase 1 regulatory subunit 15B 41 0.722 0.462 0.15 0.100 None 0 0
Entrez Id: 8517
Gene Symbol: IKBKG
IKBKG
Q9Y6K9 inhibitor of nuclear factor kappa B kinase regulatory subunit gamma Kinase 252 0.493 0.769 8.5E-02 0.100 None 0 0
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
Q9Y6C5 patched 2 114 0.563 0.692 3.4E-16 0.100 None 0 0
Entrez Id: 875
Gene Symbol: CBS
CBS
P0DN79 P35520 cystathionine beta-synthase Enzyme 295 0.465 0.885 3.1E-05 0.100 None 0 0
Entrez Id: 8838
Gene Symbol: CCN6
CCN6
O95389 cellular communication network factor 6 Signaling 126 0.568 0.731 6.2E-04 0.100 None 0 0
Entrez Id: 9060
Gene Symbol: PAPSS2
PAPSS2
O95340 3'-phosphoadenosine 5'-phosphosulfate synthase 2 Enzyme 37 0.682 0.462 2.0E-10 0.100 None 0 0
Entrez Id: 9150
Gene Symbol: CTDP1
CTDP1
Q9Y5B0 CTD phosphatase subunit 1 Enzyme 72 0.641 0.577 6.0E-04 0.100 None 0 0