Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.110 Biomarker disease BEFREE Missense variants of GRIN1, GRIN2A, and GRIN2B cause similar syndromes with varying severity of intellectual impairment, autism, epilepsy, and motor dysfunction. 31299220 2019
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.110 GeneticVariation disease CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 CausalMutation disease CLINVAR CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. 25735478 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.100 GeneticVariation disease CLINVAR
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2033
Gene Symbol: EP300
EP300
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.100 GeneticVariation disease CLINVAR
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
0.100 GeneticVariation disease CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
0.100 GeneticVariation disease CLINVAR
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E
0.100 GeneticVariation disease CLINVAR
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 Biomarker disease BEFREE Fragile X syndrome (FXS) is an inherited intellectual impairment that results from the loss of fragile X mental retardation protein (FMRP), an mRNA binding protein that regulates mRNA translation at synapses. 31350260 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 GeneticVariation disease BEFREE Fragile X Syndrome (FXS) is the main genetic cause of autism and intellectual deficiency resulting the absence of the Fragile X Mental Retardation Protein (FMRP). 28334053 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 GeneticVariation disease BEFREE Fragile X syndrome is the leading cause of inherited mental impairment and is associated with expansions of CGG repeats within the FMR1 gene. 22311273 2013
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 GeneticVariation disease BEFREE Fragile X syndrome, the most common inherited cause of intellectual impairment and the most common single gene associated with autism, generally occurs for fragile X mental retardation 1 (FMR1) alleles that exceed 200 CGG repeats (full-mutation range). 18165273 2008
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 GeneticVariation disease BEFREE A loss-of-function mutation in the FMR1 gene leads to subtle changes in neural development and subsequent mental impairment characteristic of FX. hNPCs were isolated from fetal cortex carrying the FMR1 mutation to determine whether aberrations occur in their proliferation and differentiation. 18225979 2008
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 Biomarker disease BEFREE How does the absence of FMRP cause misregulation of protein synthesis, which in turn leads to mental impairment in fragile X syndrome? 12112449 2002
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 AlteredExpression disease BEFREE The protein product, FMRP, is highly expressed in neurons of the normal mammalian brain, and absent or in low levels in leukocytes from individuals with fragile X (FraX)-associated mental impairment. 9916838 1999
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 GeneticVariation disease BEFREE Two new cases of FMR1 deletion associated with mental impairment. 7825604 1995
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.090 GeneticVariation disease BEFREE The presence of a full mutation in the FMR-1 gene seemed decisive for the occurrence of mental impairment in the patient. 8069653 1993
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.030 AlteredExpression disease BEFREE Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. 31375103 2019
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.030 GeneticVariation disease BEFREE We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency. 28456137 2018
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
0.030 GeneticVariation disease BEFREE By combining the clinical data of all patients with MEF2C point mutations published so far with the phenotype of our patient, a targeted search for MEF2C mutations could be applied to patients with a severe intellectual deficiency associated with absence of language and hypotonia, strabismus, and epilepsy (started after 6 months, often well controlled by valproate). 23001426 2013
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
0.030 Biomarker disease BEFREE We conclude that the excess of intermediate and premutation sized alleles for FRAXA may well be a contributing factor to the boys' mental impairment, while that for FRAXE may be a chance finding. 10851251 2000
Entrez Id: 2477
Gene Symbol: FRAXA
FRAXA
0.030 Biomarker disease BEFREE This suggests that relatively large unmethylated repeats of sizes 41-60 for FRAXA and 31-60 for FRAXE may play some role in mental impairment. 8776586 1996