Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308
GLDC P23378 glycine decarboxylase Enzyme 6.6E-28 0.628 0.577
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
MC4R P32245 melanocortin 4 receptor G-protein coupled receptor 9.2E-04 0.535 0.692
DDHD2 O94830 DDHD domain containing 2 Enzyme 1.4E-10 0.695 0.577
GHRLOS ghrelin opposite strand/antisense RNA 1.000 0.077
GHRL Q9UBU3 ghrelin and obestatin prepropeptide 1.4E-11 0.517 0.769
LEPR P48357 leptin receptor Signaling 0.99 0.433 0.808
ADRB3 P13945 adrenoceptor beta 3 G-protein coupled receptor 2.5E-07 0.533 0.731
CARTPT Q16568 CART prepropeptide 9.4E-02 0.576 0.692