Source: GENOMICS_ENGLAND

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 4 0 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 4 0 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 4 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 1 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 1 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 3 0 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 3 0 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 1 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 3 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 4 0 2001 2019
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 1 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 0 2016 2017
Entrez Id: 79991
Gene Symbol: STN1
STN1
STN1 subunit of CST complex 0.604 0.769 2.3E-10
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease 0.300 strong 1.000 1 0 2017 2017