Gene: NF2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 Biomarker disease CLINGEN We conclude that the majority of NF2 patients carry an inactivating mutation of the NF2 gene and that neutral polymorphism in the gene is rare. 7913580 1994
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE Although loss of heterozygosity in NF2 tumors suggests that the NF2 gene functions as a tumor suppressor gene, the NF2 gene shows amino acid sequence homology to structural proteins in one of which dominantly acting mutations have been described. 7951231 1994
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE Somatic NF2 gene mutations were detected in 13 non-familial vestibular schwannomas and in one of the NF2 vestibular schwannomas. 8004107 1994
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 Biomarker disease BEFREE Recently, the gene encoding merlin, a novel member of a family of cytoskeleton-associated proteins, was identified as the NF2 tumor suppressor. 8012353 1994
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 CausalMutation disease CLINVAR Exon scanning for mutation of the NF2 gene in schwannomas. 8012353 1994
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368 1994
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE A DNA alteration in the merlin coding sequence caused a shift on SSCP gels that was characteristic of the disease chromosome in this NF2 pedigree, being transmitted with the disorder, present only in affected members of the pedigree, absent in unaffected members of the family, and absent from 158 unrelated individuals. 8230593 1993
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease UNIPROT A DNA alteration in the merlin coding sequence caused a shift on SSCP gels that was characteristic of the disease chromosome in this NF2 pedigree, being transmitted with the disorder, present only in affected members of the pedigree, absent in unaffected members of the family, and absent from 158 unrelated individuals. 8230593 1993
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE A candidate tumor suppressor gene on 22q is the neurofibromatosis 2 (NF2) gene since NF2 patients have an increased susceptibility to ependymomas and astrocytomas. 8261460 1994
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 CausalMutation disease CLINVAR Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. 8379998 1993
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 Biomarker disease BEFREE The NF2 gene (NF2) has recently been isolated and maps to chromosome 22q12 between the loci D22S212 and D22S32. 8401504 1993
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE Since meningiomas are common in neurofibromatosis 2 (NF2) and the NF2 gene is mapped to CHR 22, the NF2 gene is a candidate for the meningioma gene. 8413972 1993
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 Biomarker disease BEFREE A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. 8453669 1993
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2. 8566958 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease UNIPROT In this study we describe a novel point mutation in exon 15 of the NF2 gene, which is found in lymphocyte DNA of two NF2 patients from one family. 8566958 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE The NF2 gene, recently isolated from chromosome 22, is mutated in both sporadic and NF2 tumors such as schwannomas, meningiomas and ependymomas. 8655145 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease UNIPROT Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. 8698340 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 Biomarker disease CLINGEN The NF2 gene has been cloned from chromosome 22q; most identified germ-line mutations result in a truncated protein and severe NF2. 8751853 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE The NF2 gene has been cloned from chromosome 22q; most identified germ-line mutations result in a truncated protein and severe NF2. 8751853 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease CLINVAR Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. 8755919 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE We identified a missense mutation (T185-->C, Phe62-->Ser) in the neurofibromatosis 2 (NF2) gene in a family with mild and severe NF2 phenotypes. 8757035 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 CausalMutation disease CLINVAR A point mutation associated with a severe phenotype of neurofibromatosis 2. 8797533 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 GeneticVariation disease BEFREE To further investigate the role of Type 2 neurofibromatosis (NF2) gene transcript mutations in the sporadically occurring counterparts of NF2-associated tumors. 8805149 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 AlteredExpression disease BEFREE Mutation analysis confirmed that inactivation of the NF2 gene occurred in NF2 tumors and a majority of sporadic schwannomas and meningiomas. 8873351 1996
Entrez Id: 4771
Gene Symbol: NF2
NF2 		1.000 CausalMutation disease CLINVAR Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. 8882871 1996