Source: ORPHANET

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: 21
Gene Symbol: ABCA3
ABCA3
ATP binding cassette subfamily A member 3 0.592 0.615 6.6E-08
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.400 None 1.000 1 0 2005 2014
Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
surfactant protein C 0.556 0.692 7.5E-04
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.320 None 0.667 1 0 2002 2007
Entrez Id: 7012
Gene Symbol: TERC
TERC
telomerase RNA component 0.471 0.846
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.310 None 1.000 2 0 2007 2016
Entrez Id: 653509
Gene Symbol: SFTPA1
SFTPA1
surfactant protein A1 0.546 0.808 3.7E-04
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.310 None 1.000 1 0 2003 2016
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
regulator of telomere elongation helicase 1 0.459 0.808 8.9E-10
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.310 None 1.000 1 0 2015 2016
Entrez Id: 5073
Gene Symbol: PARN
PARN
poly(A)-specific ribonuclease 0.575 0.769 3.7E-04
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.310 None 1.000 1 0 2015 2016
Entrez Id: 7015
Gene Symbol: TERT
TERT
telomerase reverse transcriptase 0.374 0.846 0.99
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.310 None 1.000 1 0 2007 2016
Entrez Id: 727897
Gene Symbol: MUC5B
MUC5B
mucin 5B, oligomeric mucus/gel-forming 0.532 0.808 1.00
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.300 None 1.000 2 0 2011 2011
Entrez Id: 729238
Gene Symbol: SFTPA2
SFTPA2
surfactant protein A2 0.563 0.731 9.3E-03
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 79991
Gene Symbol: STN1
STN1
STN1 subunit of CST complex 0.604 0.769 2.3E-10
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 10144
Gene Symbol: FAM13A
FAM13A
family with sequence similarity 13 member A 0.653 0.462 1.9E-18
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 23250
Gene Symbol: ATP11A
ATP11A
ATPase phospholipid transporting 11A 0.682 0.462 4.0E-06
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 1832
Gene Symbol: DSP
DSP
desmoplakin 0.514 0.808 1.00
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.300 None 1.000 1 0 2013 2013
Entrez Id: 91039
Gene Symbol: DPP9
DPP9
dipeptidyl peptidase 9 0.659 0.577 0.99
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
disease 0.300 None 1.000 1 0 2013 2013