Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
COQ4 Q9Y3A0 coenzyme Q4 3.4E-09 0.780 0.269 3 14
STAG1 Q8WVM7 stromal antigen 1 Nucleic acid binding 1.00 0.656 0.577 3 9
MSL3 Q8N5Y2 MSL complex subunit 3 Nucleic acid binding 1.00 0.861 0.115 3 9
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654 3 8
TRMU O75648 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 1.5E-16 0.716 0.385 3 8
COL27A1 Q8IZC6 collagen type XXVII alpha 1 chain 0.59 0.780 0.269 3 7
VARS2 Q5ST30 valyl-tRNA synthetase 2, mitochondrial 5.8E-17 0.666 0.577 3 6
LAMC3 Q9Y6N6 laminin subunit gamma 3 Enzyme modulator 1.4E-23 0.722 0.308 3 5
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423 3 5
ACAN P16112 aggrecan Extracellular structure 1.00 0.528 0.846 3 4
CAMTA1 Q9Y6Y1 calmodulin binding transcription activator 1 Transcription factor 1.00 0.599 0.615 3 4
GPD1 P21695 glycerol-3-phosphate dehydrogenase 1 Enzyme 5.6E-03 0.670 0.500 3 3
H1-4 P10412 H1.4 linker histone, cluster member Nucleic acid binding 0.19 0.682 0.385 3 3
GPT2 Q8TD30 glutamic--pyruvic transaminase 2 Enzyme 3.4E-04 0.650 0.577 3 3
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423 3 1
GALNS P34059 galactosamine (N-acetyl)-6-sulfatase Enzyme 3.0E-10 0.560 0.808 4 41
SPRED1 Q7Z699 sprouty related EVH1 domain containing 1 Receptor 0.97 0.644 0.577 4 33
NTRK1 P04629 neurotrophic receptor tyrosine kinase 1 Kinase 2.0E-06 0.422 0.808 4 28
KDM6A O15550 lysine demethylase 6A Epigenetic regulator 1.00 0.498 0.769 4 22
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808 4 20
RELN P78509 reelin 1.00 0.515 0.731 4 19
SOX9-AS1 SOX9 antisense RNA 1 0.839 0.269 4 16
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846 4 16
FGD1 P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 1.00 0.573 0.731 4 15