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: 122622
Gene Symbol: ADSS1
ADSS1
Q8N142 adenylosuccinate synthase 1 Enzyme 49 0.722 0.385 2.8E-07 0.110 None 1.000 1 0 2017 2017
Entrez Id: 11232
Gene Symbol: POLG2
POLG2
Q9UHN1 DNA polymerase gamma 2, accessory subunit Enzyme 158 0.558 0.769 1.5E-10 0.100 None 0 0
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.100 None 0 0
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 42 0.769 0.269 6.3E-09 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
P12235 solute carrier family 25 member 4 Transporter 160 0.568 0.692 0.45 0.100 None 0 0
Entrez Id: 22954
Gene Symbol: TRIM32
TRIM32
Q13049 tripartite motif containing 32 113 0.587 0.769 1.7E-03 0.100 None 0 0
Entrez Id: 9927
Gene Symbol: MFN2
MFN2
O95140 mitofusin 2 Enzyme 334 0.471 0.846 0.99 0.100 None 0 0
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
P01911 major histocompatibility complex, class II, DR beta 1 Immune response 1018 0.333 0.923 1.1E-03 0.010 None 1.000 1 0 2009 2009
Entrez Id: 260431
Gene Symbol: COPD
COPD
Pulmonary disease, chronic obstructive, severe early-onset 349 0.456 0.885 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7421
Gene Symbol: VDR
VDR
P11473 vitamin D receptor Nuclear receptor 852 0.352 0.885 1.7E-05 0.010 None 1.000 1 0 2008 2008
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
Q8IUH3 RNA binding motif protein 45 557 0.383 0.846 2.1E-10 0.010 None 1.000 1 0 2009 2009