Gene: NF1 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR [Specific and nonspecific indices of humoral immunity in inflammatory processes of the maxillofacial area]. 1071297 1977
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Somatic mutations in the neurofibromatosis 1 gene in human tumors. 1568247 1992
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. 7655472 1995
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679 1994
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Analysis of the neurofibromatosis type 1 (NF1) GAP-related domain by site-directed mutagenesis. 8437860 1993
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene. 8544190 1995
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Neurofibromatosis type I gene mutation in a patient with features of LEOPARD syndrome. 8807336 1996
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease CLINVAR Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene. 8829638 1996
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease CLINVAR Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene. 8837715 1996
Entrez Id: 4763
Gene Symbol: NF1
NF1 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR A total of 320 unrelated NF1 patients were screened for mutations in the GRD-encoding region of the NF1 gene. 9003501 1997