Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Finally, depletion of DCAF1 inhibits the hyperproliferation of Schwannoma cells from NF2 patients and suppresses the oncogenic potential of Merlin-deficient tumor cell lines. 20178741

2010
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Molecular characterization of the NF2 gene in Korean patients with neurofibromatosis type 2: a report of four novel mutations. 20445339

2010
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Preimplantation diagnosis for neurofibromatosis. 12709270

2003
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins. 10669747

2000
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Detection of novel NF2 mutations by an RNA mismatch cleavage method. 10790209

2000
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities. 10090912

1999
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Blood samples from 125 unrelated families with classical type 2 neurofibromatosis (NF2) with bilateral vestibular schwannomas have been analysed for mutations in the NF2 gene. 9643284

1998
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation 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
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas. 8698340

1996
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Diagnostic issues in a family with late onset type 2 neurofibromatosis. 7666400

1995
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Eleven novel mutations in the NF2 tumour suppressor gene. 7759081

1995
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT 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
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation UNIPROT Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. 8081368

1994
Entrez Id: 4771
Gene Symbol: NF2
NF2
CUI: C0027832
Disease: Neurofibromatosis 2
Neurofibromatosis 2 		1.000 GeneticVariation 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