Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
IFIH1 Q9BYX4 interferon induced with helicase C domain 1 7.0E-44 0.471 0.808 23 15
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654 54 14
GNPTAB Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 7.7E-19 0.592 0.731 30 148
GALC P54803 galactosylceramidase 5.2E-15 0.604 0.615 23 97
HEXA P06865 hexosaminidase subunit alpha Enzyme 1.3E-11 0.633 0.615 26 109
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846 49 61
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769 32 74
NDUFAF6 Q330K2 NADH:ubiquinone oxidoreductase complex assembly factor 6 9.1E-08 0.659 0.615 4 9
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808 27 61
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 33 79
DARS1 P14868 aspartyl-tRNA synthetase 1 Enzyme 8.5E-06 0.711 0.500 7 10
CLN6 Q9NWW5 CLN6 transmembrane ER protein 1.0E-04 0.670 0.231 5 36
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692 24 51
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423 24 13
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18
GCDH Q92947 glutaryl-CoA dehydrogenase 4.9E-03 0.691 0.385 8 95
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269 10 15
EIF2B5 Q13144 eukaryotic translation initiation factor 2B subunit epsilon 6.4E-02 0.615 0.769 9 18
TUBB4A P04350 tubulin beta 4A class IVa Cellular structure 0.11 0.608 0.615 21 29
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654 15 13
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 107 343
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11