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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
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: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 1
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.100 None 0 1
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
Q9P2L0 WD repeat domain 35 188 0.525 0.692 1.0E-22 0.100 None 0 0
Entrez Id: 84162
Gene Symbol: KIAA1109
KIAA1109
Q2LD37 KIAA1109 86 0.603 0.654 3.3E-21 0.100 None 0 0
Entrez Id: 84570
Gene Symbol: COL25A1
COL25A1
Q9BXS0 collagen type XXV alpha 1 chain 84 0.599 0.538 1.6E-18 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: 25939
Gene Symbol: SAMHD1
SAMHD1
Q9Y3Z3 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 169 0.547 0.769 6.5E-13 0.100 None 0 0
Entrez Id: 1807
Gene Symbol: DPYS
DPYS
Q14117 dihydropyrimidinase Enzyme 63 0.621 0.577 2.8E-11 0.100 None 0 0
Entrez Id: 84720
Gene Symbol: PIGO
PIGO
Q8TEQ8 phosphatidylinositol glycan anchor biosynthesis class O 87 0.636 0.615 6.1E-11 0.100 None 0 0
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
Q13509 tubulin beta 3 class III Cellular structure 259 0.486 0.808 2.6E-10 0.100 None 0 0
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2
Q9UHC6 contactin associated protein 2 203 0.530 0.846 2.9E-09 0.100 None 0 0
Entrez Id: 79621
Gene Symbol: RNASEH2B
RNASEH2B
Q5TBB1 ribonuclease H2 subunit B 115 0.595 0.615 3.3E-09 0.100 None 0 1
Entrez Id: 9487
Gene Symbol: PIGL
PIGL
Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 152 0.581 0.731 6.2E-09 0.100 None 0 0
Entrez Id: 55650
Gene Symbol: PIGV
PIGV
Q9NUD9 phosphatidylinositol glycan anchor biosynthesis class V 100 0.636 0.615 1.5E-08 0.100 None 0 0
Entrez Id: 57003
Gene Symbol: CCDC47
CCDC47
Q96A33 coiled-coil domain containing 47 55 0.678 0.462 6.1E-08 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.100 None 0 0
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
P50443 solute carrier family 26 member 2 Transporter 198 0.553 0.692 7.5E-07 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.100 None 0 1
Entrez Id: 284098
Gene Symbol: PIGW
PIGW
Q7Z7B1 phosphatidylinositol glycan anchor biosynthesis class W Enzyme 81 0.633 0.654 1.2E-05 0.100 None 0 0
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.420 None 1.000 3 1 1998 2001
Entrez Id: 389827
Gene Symbol: MYMK
MYMK
A6NI61 myomaker, myoblast fusion factor 69 0.659 0.538 1.8E-04 0.100 None 0 0
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2