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: 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: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 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 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: 57716
Gene Symbol: PRX
PRX
Q9BXM0 periaxin 75 0.650 0.577 2.1E-14 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: 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: 57222
Gene Symbol: ERGIC1
ERGIC1
Q969X5 endoplasmic reticulum-golgi intermediate compartment 1 37 0.700 0.423 0.65 0.100 None 0 0
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: 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: 5630
Gene Symbol: PRPH
PRPH
P41219 peripherin 73 0.623 0.462 4.8E-14 0.100 None 0 0
Entrez Id: 5446
Gene Symbol: PON3
PON3
Q15166 paraoxonase 3 62 0.663 0.692 2.1E-07 0.100 None 0 0
Entrez Id: 5445
Gene Symbol: PON2
PON2
Q15165 paraoxonase 2 117 0.566 0.808 5.4E-05 0.100 None 0 0
Entrez Id: 5444
Gene Symbol: PON1
PON1
P27169 paraoxonase 1 496 0.409 0.885 9.8E-11 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.100 None 0 0
Entrez Id: 4967
Gene Symbol: OGDH
OGDH
Q02218 oxoglutarate dehydrogenase 55 0.653 0.538 1.00 0.100 None 0 0
Entrez Id: 4927
Gene Symbol: NUP88
NUP88
Q99567 nucleoporin 88 Transporter 58 0.659 0.577 2.0E-08 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
Q99519 neuraminidase 1 Enzyme 207 0.513 0.769 7.3E-05 0.100 None 0 0
Entrez Id: 4750
Gene Symbol: NEK1
NEK1
Q96PY6 NIMA related kinase 1 Kinase 131 0.575 0.769 1.9E-25 0.100 None 0 0
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
P12036 neurofilament heavy 120 0.588 0.769 2.7E-12 0.100 None 0 0
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
O43181 NADH:ubiquinone oxidoreductase subunit S4 137 0.587 0.808 3.1E-04 0.100 None 0 0
Entrez Id: 472
Gene Symbol: ATM
ATM
Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 0 0