Gene: NIF3L1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1 		0.050 GeneticVariation group BEFREE We found a recessive GTPCH mutation (R249S, 747C-->G in a dystonia patient. 10987649 1999
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1 		0.050 GeneticVariation group BEFREE Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia. 9921872 1999
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1 		0.050 GeneticVariation group BEFREE Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1 		0.050 GeneticVariation group BEFREE Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. 9749603 1998
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1 		0.050 GeneticVariation group BEFREE GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. 9328244 1997