Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 Biomarker CTD_human A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316

2011

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 GeneticVariation BEFREE A functional tetranucleotide (AAAT) polymorphism in an Alu element in the NF1 gene is associated with mental retardation. 21236316

2011

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 GeneticVariation BEFREE A subset of NF1 patients with deletion of the entire NF1 gene has severe learning problems or mental retardation. 11258348

2001

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 GeneticVariation BEFREE The extent of the deletion suggests that the mental retardation and dysmorphism of this patient may result from a deletion involving both the NF1 gene and contiguous genetic material. 1359144

1992

Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.430 Biomarker HPO