Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1188
Gene Symbol: CLCNKB
CLCNKB
P51801 chloride voltage-gated channel Kb Ion channel 139 0.593 0.692 1.4E-22 0.100 None 0 1
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.100 None 0 1
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
P14868 aspartyl-tRNA synthetase 1 Enzyme 40 0.711 0.500 8.5E-06 0.100 None 0 1
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1
Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.100 None 0 1
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 0 2
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 0 1
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 27 0.751 0.500 1.00 0.100 None 0 2
Entrez Id: 2581
Gene Symbol: GALC
GALC
P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 0 2
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 225 0.521 0.808 1.00 0.100 None 0 1
Entrez Id: 25839
Gene Symbol: COG4
COG4
Q9H9E3 component of oligomeric golgi complex 4 111 0.631 0.615 4.0E-09 0.100 None 0 1
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 249 0.510 0.692 1.00 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
P61978 heterogeneous nuclear ribonucleoprotein K Enzyme 185 0.539 0.846 1.00 0.100 None 0 1
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 205 0.518 0.846 1.00 0.100 None 0 1
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
Q03164 lysine methyltransferase 2A 535 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.100 None 0 1
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 2