Source: CLINVAR ×
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: 134218
Gene Symbol: DNAJC21
DNAJC21
Q5F1R6 DnaJ heat shock protein family (Hsp40) member C21 9 0.606 0.731 2.1E-07 0.420 strong 1.000 0 1 2016 2018
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 12 0.547 0.769 1.00 0.150 None 1.000 0 1 1999 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
P04637 tumor protein p53 Transcription factor 84 0.236 0.962 0.53 0.150 None 1.000 0 1 1998 2019
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
Q01196 RUNX family transcription factor 1 Transcription factor 7 0.425 0.808 0.65 0.130 None 1.000 0 1 2008 2014
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
P14222 perforin 1 9 0.540 0.692 5.5E-06 0.110 None 1.000 0 1 2007 2007
Entrez Id: 1376
Gene Symbol: CPT2
CPT2
P23786 carnitine palmitoyltransferase 2 Enzyme 21 0.542 0.769 4.6E-10 0.100 None 0 1
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
Q9BZS1 forkhead box P3 6 0.368 0.846 0.99 0.100 None 0 1
Entrez Id: 7276
Gene Symbol: TTR
TTR
P02766 transthyretin Transporter 15 0.423 0.885 0.52 0.100 None 0 1
Entrez Id: 79631
Gene Symbol: EFL1
EFL1
Q7Z2Z2 elongation factor like GTPase 1 Enzyme 19 0.638 0.577 5.1E-08 0.100 None 0 1