Source: CLINVAR

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462 13 1
KCNC1 P48547 potassium voltage-gated channel subfamily C member 1 Ion channel 0.99 0.711 0.154 20 3
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615 51 6
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692 100 7
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846 36 7
NDUFAF6 Q330K2 NADH:ubiquinone oxidoreductase complex assembly factor 6 9.1E-08 0.659 0.615 4 9
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769 31 10
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423 16 10
DARS1 P14868 aspartyl-tRNA synthetase 1 Enzyme 8.5E-06 0.711 0.500 7 10
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462 97 11
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615 38 11
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731 34 11
KCTD7 Q96MP8 potassium channel tetramerization domain containing 7 Enzyme modulator 6.3E-04 0.650 0.423 24 13
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654 15 13
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654 54 14
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
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269 10 15
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654 10 18
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
CLN6 Q9NWW5 CLN6 transmembrane ER protein 1.0E-04 0.670 0.231 5 36
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 28 41
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692 24 51