Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
---|---|---|---|---|---|---|---|---|
RYR2 | Q92736 | ryanodine receptor 2 | Ion channel | 1.00 | 0.539 | 0.615 | 16 | 95 |
GCH1 | P30793 | GTP cyclohydrolase 1 | Enzyme | 0.90 | 0.511 | 0.846 | 36 | 61 |
HADHA | P40939 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Enzyme | 4.4E-06 | 0.569 | 0.769 | 15 | 57 |
TNNT2 | P45379 | troponin T2, cardiac type | Cellular structure | 2.0E-03 | 0.601 | 0.423 | 41 | 55 |
CTNNB1 | P35222 | catenin beta 1 | 1.00 | 0.303 | 0.885 | 130 | 54 | |
PRKCE | Q02156 | protein kinase C epsilon | Kinase | 1.00 | 0.597 | 0.692 | 35 | 50 |
PDHA1 | P08559 | pyruvate dehydrogenase E1 subunit alpha 1 | 0.99 | 0.581 | 0.538 | 23 | 45 | |
TUBA1A | Q71U36 | tubulin alpha 1a | Cellular structure | 0.97 | 0.597 | 0.769 | 9 | 44 |
ELN | P15502 | elastin | 2.1E-14 | 0.415 | 0.885 | 24 | 42 | |
TCF7L2 | Q9NQB0 | transcription factor 7 like 2 | 1.00 | 0.485 | 0.846 | 29 | 40 | |
ACTB | P60709 | actin beta | Cellular structure | 0.99 | 0.325 | 0.923 | 48 | 35 |
PGM1 | P36871 | phosphoglucomutase 1 | 5.1E-15 | 0.628 | 0.577 | 13 | 35 | |
TFRC | P02786 | transferrin receptor | Enzyme | 7.0E-05 | 0.437 | 0.885 | 52 | 33 |
CD36 | P16671 | CD36 molecule | Receptor | 1.1E-60 | 0.446 | 0.846 | 19 | 31 |
GHR | P10912 | growth hormone receptor | Signaling | 8.4E-05 | 0.490 | 0.846 | 10 | 31 |
PDE4B | Q07343 | phosphodiesterase 4B | 0.47 | 0.566 | 0.731 | 25 | 26 | |
GATM | P50440 | glycine amidinotransferase | 5.1E-02 | 0.666 | 0.615 | 18 | 23 | |
JAK2 | O60674 | Janus kinase 2 | Kinase | 0.65 | 0.385 | 0.885 | 53 | 22 |
KITLG | P21583 | KIT ligand | 0.85 | 0.473 | 0.885 | 27 | 20 | |
CTSC | P53634 | cathepsin C | Enzyme | 1.1E-07 | 0.541 | 0.731 | 16 | 20 |
IFNGR1 | P15260 | interferon gamma receptor 1 | Receptor | 1.6E-02 | 0.529 | 0.692 | 14 | 19 |
SLC8A1 | P32418 | solute carrier family 8 member A1 | Transporter | 1.00 | 0.544 | 0.769 | 36 | 18 |
AXIN2 | Q9Y2T1 | axin 2 | 0.57 | 0.507 | 0.692 | 20 | 18 | |
EGR2 | P11161 | early growth response 2 | Nucleic acid binding | 0.50 | 0.547 | 0.769 | 14 | 18 |