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: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 1
Entrez Id: 5813
Gene Symbol: PURA
PURA
Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 6926
Gene Symbol: TBX3
TBX3
O15119 T-box transcription factor 3 Transcription factor 179 0.525 0.769 0.99 0.100 None 0 0
Entrez Id: 6942
Gene Symbol: TCF20
TCF20
Q9UGU0 transcription factor 20 Transcription factor 78 0.644 0.423 1.00 0.100 None 0 0
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
P78381 solute carrier family 35 member A2 Transporter 197 0.525 0.808 0.72 0.100 None 0 0
Entrez Id: 79087
Gene Symbol: ALG12
ALG12
Q9BV10 ALG12 alpha-1,6-mannosyltransferase Enzyme 49 0.705 0.500 1.2E-07 0.100 None 0 0
Entrez Id: 79796
Gene Symbol: ALG9
ALG9
Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 80 0.644 0.654 6.4E-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
Entrez Id: 8504
Gene Symbol: PEX3
PEX3
P56589 peroxisomal biogenesis factor 3 127 0.595 0.731 1.6E-02 0.100 None 0 0
Entrez Id: 91137
Gene Symbol: SLC25A46
SLC25A46
Q96AG3 solute carrier family 25 member 46 Transporter 46 0.695 0.308 1.3E-05 0.100 None 0 0
Entrez Id: 91869
Gene Symbol: RFT1
RFT1
Q96AA3 RFT1 homolog 60 0.700 0.500 3.7E-13 0.100 None 0 0
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.100 None 0 0
Entrez Id: 51604
Gene Symbol: PIGT
PIGT
Q969N2 phosphatidylinositol glycan anchor biosynthesis class T 79 0.633 0.615 7.3E-10 0.100 None 0 0
Entrez Id: 51322
Gene Symbol: WAC
WAC
Q9BTA9 WW domain containing adaptor with coiled-coil 68 0.686 0.615 1.00 0.100 None 0 0
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 115 0.606 0.577 1.2E-08 0.100 None 0 0
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
P14868 aspartyl-tRNA synthetase 1 Enzyme 40 0.711 0.500 8.5E-06 0.100 None 0 1
Entrez Id: 1798
Gene Symbol: DPAGT1
DPAGT1
Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 94 0.621 0.538 1.1E-05 0.100 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1
P54259 atrophin 1 499 0.409 0.885 1.00 0.100 None 0 0
Entrez Id: 2146
Gene Symbol: EZH2
EZH2
Q15910 enhancer of zeste 2 polycomb repressive complex 2 subunit Epigenetic regulator 653 0.376 0.885 1.00 0.100 None 0 0
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 1
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
Q9H4W6 EBF transcription factor 3 124 0.595 0.731 1.00 0.100 None 0 0
Entrez Id: 27152
Gene Symbol: INTU
INTU
Q9ULD6 inturned planar cell polarity protein 134 0.555 0.769 7.7E-10 0.100 None 0 0
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 185 0.539 0.846 1.00 0.100 None 0 1
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
Q2TAA5 ALG11 alpha-1,2-mannosyltransferase 47 0.722 0.346 6.2E-09 0.100 None 0 0