Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
OXSM Q9NWU1 3-oxoacyl-ACP synthase, mitochondrial 2.5E-05 0.861 0.115 2 1
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 34 84
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
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923 5 32
ACTG1 P63261 actin gamma 1 Cellular structure 4.8E-03 0.477 0.846 5 18
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808 39 21
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
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846 3 4
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808 8 4
AARS2 Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 5.0E-17 0.644 0.500 10 12
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769 8 29
ALX4 Q9H161 ALX homeobox 4 0.36 0.560 0.692 7 15
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808 63 59
ANOS1 P23352 anosmin 1 1.00 0.537 0.769 7 17
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654 4 8
AVPR2 P30518 arginine vasopressin receptor 2 G-protein coupled receptor 0.56 0.568 0.769 6 34
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
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846 93 79