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: 101060233
Gene Symbol: OPN1MW3
OPN1MW3
P04001 P0DN77 P0DN78 opsin 1, medium wave sensitive 3 80 0.601 0.769 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.010 None 1.000 1 0 2014 2014
Entrez Id: 101928376
Gene Symbol: IL12A-AS1
IL12A-AS1
IL12A antisense RNA 1 99 0.633 0.654 0.100 None 0 0
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS
P0DMR3 ATXN8 opposite strand lncRNA 91 0.650 0.423 0.100 None 0 0
Entrez Id: 724066
Gene Symbol: ATXN8
ATXN8
Q156A1 ataxin 8 45 0.743 0.269 0.100 None 0 0
Entrez Id: 727676
Gene Symbol: SNORD118
SNORD118
small nucleolar RNA, C/D box 118 45 0.686 0.462 0.100 None 0 0
Entrez Id: 54832
Gene Symbol: VPS13C
VPS13C
Q709C8 vacuolar protein sorting 13 homolog C 71 0.653 0.346 7.6E-49 0.100 None 0 0
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 0
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.100 None 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
Q86VV8 rotatin 100 0.619 0.654 9.0E-34 0.100 None 0 0
Entrez Id: 200403
Gene Symbol: VWA3B
VWA3B
Q502W6 von Willebrand factor A domain containing 3B 27 0.729 0.154 9.7E-28 0.100 None 0 0
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 244 0.484 0.808 4.5E-27 0.100 None 0 0
Entrez Id: 51752
Gene Symbol: ERAP1
ERAP1
Q9NZ08 endoplasmic reticulum aminopeptidase 1 Enzyme 156 0.556 0.692 2.1E-26 0.100 None 0 0
Entrez Id: 22909
Gene Symbol: FAN1
FAN1
Q9Y2M0 FANCD2 and FANCI associated nuclease 1 93 0.610 0.577 1.7E-25 0.100 None 0 0
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.010 None 1.000 1 0 2007 2007
Entrez Id: 7173
Gene Symbol: TPO
TPO
P07202 thyroid peroxidase Enzyme 306 0.455 0.846 1.8E-21 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55624
Gene Symbol: POMGNT1
POMGNT1
Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 188 0.537 0.538 1.9E-20 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 0
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.110 None 1.000 1 0 2019 2019
Entrez Id: 5378
Gene Symbol: PMS1
PMS1
P54277 PMS1 homolog 1, mismatch repair system component Nucleic acid binding 115 0.569 0.654 1.3E-17 0.100 None 0 0
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 25894
Gene Symbol: PLEKHG4
PLEKHG4
Q58EX7 pleckstrin homology and RhoGEF domain containing G4 23 0.769 0.154 1.1E-16 0.010 None 1.000 1 0 2000 2000
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 0
Entrez Id: 259232
Gene Symbol: NALCN
NALCN
Q8IZF0 sodium leak channel, non-selective Ion channel 143 0.587 0.615 8.5E-14 0.100 None 0 0
Entrez Id: 6834
Gene Symbol: SURF1
SURF1
Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 150 0.578 0.654 1.6E-13 0.100 None 0 2