Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
KAT14 Q9H8E8 lysine acetyltransferase 14 1.3E-09 0.890 0.077 2 1
KCTD3 Q9Y597 potassium channel tetramerization domain containing 3 0.10 0.931 0.115 3 1
GSPT2 Q8IYD1 G1 to S phase transition 2 Enzyme 0.98 0.821 0.154 3 1
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192 6 1
QARS1 P47897 glutaminyl-tRNA synthetase 1 Enzyme 2.7E-13 0.716 0.231 12 13
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231 11 1
PIGG Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 5.4E-15 0.792 0.231 8 4
STX7 O15400 syntaxin 7 Transporter 5.0E-06 0.821 0.231 7 1
MFSD8 Q8NHS3 major facilitator superfamily domain containing 8 2.5E-12 0.682 0.231 5 21
CLN6 Q9NWW5 CLN6 transmembrane ER protein 1.0E-04 0.670 0.231 5 36
FRRS1L Q9P0K9 ferric chelate reductase 1 like 1.5E-03 0.666 0.231 4 9
CINP Q9BW66 cyclin dependent kinase 2 interacting protein 5.7E-02 0.821 0.231 3 1
TSPEAR-AS1 TSPEAR antisense RNA 1 0.821 0.269 15 2
CLN5 O75503 CLN5 intracellular trafficking protein 1.7E-08 0.705 0.269 5 62
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308 7 1
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308 6 1
PTH2R P49190 parathyroid hormone 2 receptor G-protein coupled receptor 1.4E-20 0.780 0.308 5 1
STX1B P61266 syntaxin 1B Transporter 0.99 0.650 0.308 4 9
KCNT1 Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 2.8E-05 0.610 0.308 4 16
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346 50 425
POMP Q9Y244 proteasome maturation protein 0.91 0.674 0.346 25 4
PRSS23 O95084 serine protease 23 Enzyme 1.9E-05 0.722 0.346 12 8
DNAH7 Q8WXX0 dynein axonemal heavy chain 7 Enzyme 1.4E-71 0.769 0.346 11 2
CPA6 Q8N4T0 carboxypeptidase A6 Enzyme 4.4E-17 0.716 0.346 11 5