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: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 1.000 1 2 2009 2009
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 1.000 1 2 2015 2015
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
P28062 proteasome 20S subunit beta 8 165 0.533 0.808 2.2E-02 0.100 None 0 0
Entrez Id: 5611
Gene Symbol: DNAJC3
DNAJC3
Q13217 DnaJ heat shock protein family (Hsp40) member C3 38 0.670 0.577 1.7E-02 0.100 None 0 0
Entrez Id: 56776
Gene Symbol: FMN2
FMN2
Q9NZ56 formin 2 88 0.610 0.538 1.00 0.100 None 0 0
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
P54136 arginyl-tRNA synthetase 1 94 0.604 0.538 3.3E-08 0.100 None 0 0
Entrez Id: 56521
Gene Symbol: DNAJC12
DNAJC12
Q9UKB3 DnaJ heat shock protein family (Hsp40) member C12 35 0.705 0.423 2.1E-06 0.100 None 0 0
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
Q9NQZ6 zinc finger C4H2-type containing 151 0.561 0.731 0.91 0.100 None 0 0
Entrez Id: 5648
Gene Symbol: MASP1
MASP1
P48740 mannan binding lectin serine peptidase 1 Enzyme 123 0.565 0.885 1.2E-11 0.100 None 0 0
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: 57102
Gene Symbol: C12orf4
C12orf4
Q9NQ89 chromosome 12 open reading frame 4 49 0.691 0.308 1.1E-05 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 57599
Gene Symbol: WDR48
WDR48
Q8TAF3 WD repeat domain 48 57 0.628 0.615 1.00 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: 57526
Gene Symbol: PCDH19
PCDH19
Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 0.100 None 0 0
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 0 0
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
Q9ULP9 TBC1 domain family member 24 Enzyme modulator 218 0.530 0.808 1.3E-08 0.100 None 0 0
Entrez Id: 5831
Gene Symbol: PYCR1
PYCR1
P32322 pyrroline-5-carboxylate reductase 1 126 0.570 0.654 2.0E-04 0.100 None 0 0
Entrez Id: 5888
Gene Symbol: RAD51
RAD51
Q06609 RAD51 recombinase 363 0.447 0.846 2.7E-02 0.100 None 0 0
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 470 0.418 0.885 0.85 0.100 None 0 0
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
Q8NI27 THO complex 2 Transcription factor 59 0.650 0.538 1.00 0.100 None 0 0
Entrez Id: 5718
Gene Symbol: PSMD12
PSMD12
O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 105 0.578 0.808 1.00 0.100 None 0 0
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2
Q96AD5 patatin like phospholipase domain containing 2 Enzyme 199 0.511 0.846 4.1E-03 0.100 None 0 0
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
Q5T6L9 ER membrane associated RNA degradation 65 0.647 0.538 5.8E-16 0.100 None 0 0
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
Q9NW08 RNA polymerase III subunit B Enzyme 71 0.628 0.654 1.7E-23 0.100 None 0 0