Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7025
Gene Symbol: NR2F1
NR2F1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.750 GeneticVariation CLINVAR The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 26986877

2016
Entrez Id: 7025
Gene Symbol: NR2F1
NR2F1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.750 CausalMutation CLINVAR

Entrez Id: 441094
Gene Symbol: NR2F1-AS1
NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.100 GeneticVariation CLINVAR The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. 26986877

2016
Entrez Id: 441094
Gene Symbol: NR2F1-AS1
NR2F1-AS1
CUI: C3810363
Disease: Optic atrophy, intellectual disability syndrome
Optic atrophy, intellectual disability syndrome 		0.100 CausalMutation CLINVAR