Source: INFERRED

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 CausalMutation CLINVAR [Specific and nonspecific indices of humoral immunity in inflammatory processes of the maxillofacial area]. 1071297

1977
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Somatic mutations in the neurofibromatosis 1 gene in human tumors. 1568247

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

1990
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene. 7607663

1995
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Characterisation of a novel splice donor mutation affecting position +1 in intron 18 of the NF-1 gene. 7633431

1995
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation. 7649559

1995
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. 7655472

1995
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese. 7903661

1994
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. 7904209

1993
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE). 8069310

1994
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Functional significance of lysine 1423 of neurofibromin and characterization of a second site suppressor which rescues mutations at this residue and suppresses RAS2Val-19-activated phenotypes. 8264648

1994
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Identification and characterization of sporadic and inherited mutations in exon 31 of the neurofibromatosis (NF1) gene. 8385067

1993
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis. 8437860

1993
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR 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 CLINVAR Identification of neurofibromin mutants that exhibit allele specificity or increased Ras affinity resulting in suppression of activated ras alleles. 8628317

1996
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Recurrent 2-bp deletion in exon 10c of the NF1 gene in two cases of von Recklinghausen neurofibromatosis. 8664912

1996
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation CLINVAR 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 CausalMutation CLINVAR Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene. 8829638

1996
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR 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 CausalMutation CLINVAR Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. 8837715

1996
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8. 8957181

1996
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 CausalMutation CLINVAR A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. 9003501

1997
Entrez Id: 4763
Gene Symbol: NF1
NF1
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		1.000 GeneticVariation CLINVAR A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. 9003501

1997