Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CEP97 Q8IW35 centrosomal protein 97 2.0E-11 1.000
TMEM92 Q6UXU6 transmembrane protein 92 6.3E-03 0.890 0.038
ST7-AS2 ST7 antisense RNA 2 0.931 0.038
KAT14 Q9H8E8 lysine acetyltransferase 14 1.3E-09 0.890 0.077
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
DMBX1 Q8NFW5 diencephalon/mesencephalon homeobox 1 0.93 0.780 0.115
TUBA3E Q6PEY2 tubulin alpha 3e Cellular structure 2.0E-08 0.861 0.115
TSEN15 Q8WW01 tRNA splicing endonuclease subunit 15 0.28 0.769 0.115
TMEM47 Q9BQJ4 transmembrane protein 47 0.80 0.821 0.154
AAR2 Q9Y312 AAR2 splicing factor 8.3E-06 0.839 0.192
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192
ZNF142 P52746 zinc finger protein 142 Transcription factor 4.8E-16 0.861 0.192
ARL14EP Q8N8R7 ADP ribosylation factor like GTPase 14 effector protein 0.38 0.861 0.192
ERI1 Q8IV48 exoribonuclease 1 Enzyme 1.2E-05 0.890 0.192
ST7 Q9NRC1 suppression of tumorigenicity 7 1.00 0.743 0.192
ISCA2 Q86U28 iron-sulfur cluster assembly 2 2.4E-08 0.743 0.231
CLUAP1 Q96AJ1 clusterin associated protein 1 4.2E-04 0.805 0.231
RPS6KC1 Q96S38 ribosomal protein S6 kinase C1 Kinase 1.3E-03 0.821 0.231
MTSS2 Q765P7 MTSS I-BAR domain containing 2 Cellular structure 0.98 0.839 0.231
NMNAT1 Q9HAN9 nicotinamide nucleotide adenylyltransferase 1 Enzyme 3.5E-02 0.656 0.269
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
GNB5 O14775 G protein subunit beta 5 Enzyme 6.4E-08 0.736 0.308
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308
MATN4 O95460 matrilin 4 Receptor 1.1E-08 0.769 0.308
TAF6 P49848 TATA-box binding protein associated factor 6 Transcription factor 8.3E-09 0.769 0.308