Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500 3 7
OXSM Q9NWU1 3-oxoacyl-ACP synthase, mitochondrial 2.5E-05 0.861 0.115 2 1
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769 16 147
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769 8 52
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
AGK Q53H12 acylglycerol kinase 6.0E-09 0.650 0.654 5 14
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654 7 12
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385 4 8
ADCY5 O95622 adenylate cyclase 5 1.00 0.617 0.577 10 7
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654 25 25
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808 8 4
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 39 17
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462 4 11
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769 8 29
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577 20 2
ALS2 Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 8.7E-12 0.647 0.423 10 23
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231 7 9
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654 4 8
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 11 42
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808 52 22
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692 43 6
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500 17 14