Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HAAO P46952 3-hydroxyanthranilate 3,4-dioxygenase 1.1E-08 0.644 0.538
AAR2 Q9Y312 AAR2 splicing factor 8.3E-06 0.839 0.192
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AMPD2 Q01433 adenosine monophosphate deaminase 2 Enzyme 4.5E-07 0.663 0.577
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
ARL14EP Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 0.38 0.861 0.192
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
AKT3 Q9Y243 AKT serine/threonine kinase 3 Kinase 1.00 0.512 0.808
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
TTPA P49638 alpha tocopherol transfer protein Transporter 1.4E-03 0.612 0.577
MGAT2 Q10469 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Enzyme 3.4E-02 0.650 0.577
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
AMMECR1 Q9Y4X0 AMMECR nuclear protein 1 0.82 0.659 0.692
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308
RERE Q9P2R6 arginine-glutamic acid dipeptide repeats 1.00 0.526 0.846
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462