Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 48 17
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615 44 57
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500 43 2
ABCD1 P33897 ATP binding cassette subfamily D member 1 Transporter 1.00 0.563 0.731 37 82
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808 34 55
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 32 164
ABCA4 P78363 ATP binding cassette subfamily A member 4 Transporter 5.3E-48 0.493 0.769 30 247
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654 30 312
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 29 59
VPS11 Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 1.9E-05 0.633 0.654 26 1
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731 24 76
SLC20A2 Q08357 solute carrier family 20 member 2 Transporter 0.97 0.638 0.577 24 15
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846 21 14
SLC25A42 Q86VD7 solute carrier family 25 member 42 Transporter 0.49 0.760 0.269 21 2
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692 19 17
EXOC6B Q9Y2D4 exocyst complex component 6B Transporter 0.12 0.682 0.577 19 2
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692 18 166
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577 17 28
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615 15 7
TTR P02766 transthyretin Transporter 0.52 0.423 0.885 15 45
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692 14 147
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692 13 11
ATP1A2 P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 1.8E-04 0.597 0.615 13 25
SLC4A1 P02730 solute carrier family 4 member 1 (Diego blood group) Transporter 0.85 0.522 0.731 13 36