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
LEPR P48357 leptin receptor Signaling 0.99 0.433 0.808
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
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808
GHRL Q9UBU3 ghrelin and obestatin prepropeptide 1.4E-11 0.517 0.769
KCNH2 Q12809 potassium voltage-gated channel subfamily H member 2 Ion channel 1.00 0.522 0.731
ADRB3 P13945 adrenoceptor beta 3 G-protein coupled receptor 2.5E-07 0.533 0.731
MC4R P32245 melanocortin 4 receptor G-protein coupled receptor 9.2E-04 0.535 0.692
TCOF1 Q13428 treacle ribosome biogenesis factor 1 0.95 0.550 0.808
ALMS1 Q8TCU4 ALMS1 centrosome and basal body associated protein 4.5E-60 0.559 0.808
CARTPT Q16568 CART prepropeptide 9.4E-02 0.576 0.692
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
GLDC P23378 glycine decarboxylase Enzyme 6.6E-28 0.628 0.577
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
ARL6 Q9H0F7 ADP ribosylation factor like GTPase 6 1.0E-02 0.636 0.462
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
SCAPER Q9BY12 S-phase cyclin A associated protein in the ER 8.8E-03 0.653 0.500
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
DDHD2 O94830 DDHD domain containing 2 Enzyme 1.4E-10 0.695 0.577
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308
GHRLOS ghrelin opposite strand/antisense RNA 1.000 0.077