Source: CLINVAR ×
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: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 48 0.510 0.692 1.00 0.110 None 1.000 0 2 2019 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 57 0.489 0.769 1.00 0.100 None 1.000 1 2 2015 2015
Entrez Id: 2033
Gene Symbol: EP300
EP300 		Q09472 E1A binding protein p300 28 0.459 0.846 1.00 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 34 0.388 0.808 0.99 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 40 0.518 0.731 1.00 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 93 0.503 0.846 1.00 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 18 0.682 0.423 1.00 0.100 None 0 2
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		Q03164 lysine methyltransferase 2A 61 0.410 0.885 1.00 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		Q9H2P0 activity dependent neuroprotector homeobox 39 0.561 0.808 1.00 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		Q9C0F0 ASXL transcriptional regulator 3 77 0.590 0.577 1.00 0.100 None 0 1