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: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
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: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 136 0.593 0.654 1.00 0.100 None 0 1
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 1
Entrez Id: 25839
Gene Symbol: COG4
COG4
Q9H9E3 component of oligomeric golgi complex 4 111 0.631 0.615 4.0E-09 0.100 None 0 1
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 1
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
P05108 cytochrome P450 family 11 subfamily A member 1 166 0.547 0.731 5.5E-07 0.100 None 0 0
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2