Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.110 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 CausalMutation CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478

2015

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR

Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
CUI: C0683322
Disease: Mental impairment
Mental impairment
0.100 GeneticVariation CLINVAR