Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
GBE1 Q04446 1,4-alpha-glucan branching enzyme 1 Enzyme 1.1E-12 0.612 0.654 102 48
HACD1 B0YJ81 3-hydroxyacyl-CoA dehydratase 1 1.3E-09 0.539 0.846 160 0
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 266 96
ASCL1 P50553 achaete-scute family bHLH transcription factor 1 Transcription factor 0.68 0.552 0.692 136 2
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769 217 59
ACTG2 P63267 actin gamma 2, smooth muscle Cellular structure 7.1E-02 0.505 0.808 205 17
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846 209 3
ADAMTS3 O15072 ADAM metallopeptidase with thrombospondin type 1 motif 3 Enzyme 1.0E-10 0.581 0.808 116 9
ADGRG6 Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 6.6E-05 0.666 0.385 65 60
AGRN O00468 agrin 5.5E-07 0.626 0.538 124 11
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500 64 18
ALG12 Q9BV10 ALG12 alpha-1,6-mannosyltransferase Enzyme 1.2E-07 0.705 0.500 49 12
ALG8 Q9BVK2 ALG8 alpha-1,3-glucosyltransferase Enzyme 1.2E-08 0.659 0.577 64 8
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769 190 134
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654 134 8
AQP2 P41181 aquaporin 2 Ion channel 2.5E-06 0.581 0.769 114 41
AVPR2 P30518 arginine vasopressin receptor 2 G-protein coupled receptor 0.56 0.568 0.769 134 38
ARVCF O00192 ARVCF delta catenin family member Cellular structure 5.0E-11 0.540 0.769 151 30
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 296 24
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846 317 213
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 1228 107
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 82 45
BSND Q8WZ55 barttin CLCNK type accessory subunit beta 1.1E-10 0.603 0.692 91 9
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 157 11