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: 9969
Gene Symbol: MED13
MED13
Q9UHV7 mediator complex subunit 13 29 0.711 0.538 1.00 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 5081
Gene Symbol: PAX7
PAX7
P23759 paired box 7 78 0.597 0.538 0.14 0.300 None 1.000 1 0 2019 2019
Entrez Id: 116931
Gene Symbol: MED12L
MED12L
Q86YW9 mediator complex subunit 12L Transcription factor 19 0.839 0.269 1.00 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA
P10253 glucosidase alpha, acid Enzyme 77 0.631 0.577 2.8E-18 0.100 None 1.000 1 1 2015 2015
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 0.100 None 0 0
Entrez Id: 5879
Gene Symbol: RAC1
RAC1
P63000 Rac family small GTPase 1 Enzyme modulator 415 0.429 0.962 0.76 0.100 None 0 0
Entrez Id: 59341
Gene Symbol: TRPV4
TRPV4
Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 422 0.457 0.808 2.2E-16 0.100 None 0 0
Entrez Id: 5980
Gene Symbol: REV3L
REV3L
O60673 REV3 like, DNA directed polymerase zeta catalytic subunit 95 0.588 0.654 1.00 0.100 None 0 0
Entrez Id: 6016
Gene Symbol: RIT1
RIT1
Q92963 Ras like without CAAX 1 Enzyme modulator 184 0.527 0.808 0.13 0.100 None 0 3
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: 6095
Gene Symbol: RORA
RORA
P35398 RAR related orphan receptor A Nuclear receptor 158 0.533 0.808 0.40 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 1
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 5805
Gene Symbol: PTS
PTS
Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.100 None 0 0
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
P68133 actin alpha 1, skeletal muscle Cellular structure 217 0.540 0.769 1.1E-06 0.100 None 0 0
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 0.100 None 0 0
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
Q96KG9 SCY1 like pseudokinase 1 Kinase 104 0.582 0.769 2.5E-08 0.100 None 0 0
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
Q9ULL5 proline rich 12 35 0.716 0.385 1.00 0.100 None 0 3
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 57716
Gene Symbol: PRX
PRX
Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 0.100 None 0 0
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
Q9HCE0 ectopic P-granules autophagy protein 5 homolog 94 0.623 0.769 1.4E-13 0.100 None 0 0
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.100 None 0 1