Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
LZTR1 Q8N653 leucine zipper like transcription regulator 1 1.0E-92 0.547 0.808
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
LAMA1 P25391 laminin subunit alpha 1 3.2E-32 0.582 0.808
HEATR4 Q86WZ0 HEAT repeat containing 4 1.4E-29
NEK1 Q96PY6 NIMA related kinase 1 Kinase 1.9E-25 0.575 0.769
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
PLOD1 Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 1.5E-15 0.579 0.731
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615