Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731 58 15
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808 23 15
RIT1 Q92963 Ras like without CAAX 1 Enzyme modulator 0.13 0.527 0.808 44 16
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808 48 17
TFAP2A P05549 transcription factor AP-2 alpha Transcription factor 0.99 0.488 0.769 37 17
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769 76 18
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654 9 18
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 35 20
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577 77 22
PUF60 Q9UHX1 poly(U) binding splicing factor 60 1.00 0.536 0.769 37 23
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808 38 24
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769 81 25
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654 25 25
NFIX Q14938 nuclear factor I X Nucleic acid binding 1.00 0.547 0.769 23 25
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885 45 26
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808 21 26
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 60 27
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615 14 28
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846 26 30
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 22 30
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808 76 33
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769 61 35
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462 15 40
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538 30 42