Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829

1997
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. 8807336

1996
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT We have scanned 14 different exons from the first part of the NF1 gene using the RNA-single strand conformation polymorphism (RNA-SSCP) method in a series of 40 NF1 patients. 8834249

1996
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. 8544190

1995
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387

1994
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608

1992
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation UNIPROT A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. 2114220

1990