Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1736
Gene Symbol: DKC1
DKC1
dyskerin pseudouridine synthase 1 0.547 0.769 1.00
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.900 strong 0.969 50 4 1998 2019
Entrez Id: 26277
Gene Symbol: TINF2
TINF2
TERF1 interacting nuclear factor 2 0.575 0.731 1.3E-03
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.900 None 0.917 23 3 2008 2018
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.700 None 1.000 20 0 2001 2019
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.690 strong 1.000 9 0 2013 2018
Entrez Id: 5073
Gene Symbol: PARN
PARN
poly(A)-specific ribonuclease 0.575 0.769 3.7E-04
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.670 strong 1.000 7 0 2015 2019
Entrez Id: 55135
Gene Symbol: WRAP53
WRAP53
WD repeat containing antisense to TP53 0.603 0.692 5.4E-05
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.650 moderate 1.000 5 1 2010 2019
Entrez Id: 80169
Gene Symbol: CTC1
CTC1
CST telomere replication complex component 1 0.601 0.538 1.6E-11
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.640 None 1.000 4 0 2012 2019
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.600 None 1.000 20 2 2005 2019
Entrez Id: 79650
Gene Symbol: USB1
USB1
U6 snRNA biogenesis phosphodiesterase 1 0.636 0.577 6.9E-04
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.550 None 1.000 5 0 2010 2016
Entrez Id: 4869
Gene Symbol: NPM1
NPM1
nucleophosmin 1 0.464 0.846 1.00
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.510 moderate 1.000 1 0 2019 2019
Entrez Id: 55505
Gene Symbol: NOP10
NOP10
NOP10 ribonucleoprotein 0.631 0.654 0.77
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.470 None 1.000 7 0 2006 2018
Entrez Id: 55651
Gene Symbol: NHP2
NHP2
NHP2 ribonucleoprotein 0.623 0.654 5.0E-02
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.430 None 1.000 3 1 2001 2019
Entrez Id: 54433
Gene Symbol: GAR1
GAR1
GAR1 ribonucleoprotein 0.839 0.192 0.10
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.320 None 1.000 2 0 2006 2012
Entrez Id: 92345
Gene Symbol: NAF1
NAF1
nuclear assembly factor 1 ribonucleoprotein 0.700 0.500 0.98
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.320 strong 1.000 2 0 2010 2019
Entrez Id: 65057
Gene Symbol: ACD
ACD
ACD shelterin complex subunit and telomerase recruitment factor 0.603 0.731 1.1E-12
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.310 strong 1.000 1 1 2016 2017
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.270 None 1.000 7 1 2011 2018
Entrez Id: 6223
Gene Symbol: RPS19
RPS19
ribosomal protein S19 0.480 0.846 0.92
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.050 None 1.000 5 0 2006 2018
Entrez Id: 7013
Gene Symbol: TERF1
TERF1
telomeric repeat binding factor 1 0.563 0.692 0.91
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.040 None 1.000 4 0 2012 2018
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.020 None 1.000 2 0 2014 2018
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.020 None 1.000 2 0 2006 2006
Entrez Id: 55164
Gene Symbol: SHQ1
SHQ1
SHQ1, H/ACA ribonucleoprotein assembly factor 0.743 0.308 4.8E-11
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.020 None 1.000 2 0 2011 2017
Entrez Id: 947
Gene Symbol: CD34
CD34
CD34 molecule 0.368 0.808 5.0E-06
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.020 None 1.000 2 0 2008 2015
Entrez Id: 8378
Gene Symbol: LOH19CR1
LOH19CR1
loss of heterozygosity, 19, chromosomal region 1 0.569 0.808
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
RUNX family transcription factor 1 0.425 0.808 0.65
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 6768
Gene Symbol: ST14
ST14
suppression of tumorigenicity 14 0.514 0.769 0.56
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.010 None 1.000 1 0 1986 1986