Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		glutamate ionotropic receptor NMDA type subunit 2B 0.510 0.692 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.110 None 1.000 0 2 2019 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 1.000 1 2 2015 2015
Entrez Id: 2033
Gene Symbol: EP300
EP300 		E1A binding protein p300 0.459 0.846 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		solute carrier family 2 member 1 0.388 0.808 0.99
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		sodium voltage-gated channel alpha subunit 2 0.518 0.731 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		lysine methyltransferase 2E 0.682 0.423 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 2
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A 		lysine methyltransferase 2A 0.410 0.885 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		activity dependent neuroprotector homeobox 0.561 0.808 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease 0.100 None 0 1