G2Cdb::Human Disease report
- Disease id
- D00000298
- Name
- Neurofibromatosis type I
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00000036 | NF1 neurofibromin 1 |
Y | (7485153) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (7575561) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (7981679) | Splice site mutation (SpS) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (7981679) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (7981679) | Nonsense (No) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (7981679) | Microinsertion (MI) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (8081387) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (8116612) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (8123014) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (8317503) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9003501) | Microinsertion (MI) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9003501) | Nonsense (No) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9003501) | Splice site mutation (SpS) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9003501) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9475595) | Microinsertion (MI) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9654211) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9783703) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9783703) | Nonsense (No) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9783703) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (9783703) | Splice site mutation (SpS) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10593996) | Splice site mutation (SpS) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10633134) | Single nucleotide polymorphism (SNP) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10633134) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10677298) | Repeat polymorphism (RP) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10677298) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10721668) | Nonsense (No) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10862084) | Nonsense (No) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10862084) | Splice site mutation (SpS) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10862084) | Microinsertion (MI) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10862084) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (10862084) | Translocation (T) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (11068991) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (11068991) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (11292340) | Single nucleotide polymorphism (SNP) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (11409870) | Splice site mutation (SpS) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (11748857) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12112660) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12112660) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12112660) | Insertion/deletion (I/D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12112660) | Single nucleotide polymorphism (SNP) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12552569) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12552569) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12552569) | Nonsense (No) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12552569) | Microinsertion (MI) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (12552569) | Splice site mutation (SpS) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (14722917) | Single nucleotide polymorphism (SNP) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (14722917) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (15146469) | Nonsense (No) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (15146469) | Deletion (D) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (15146469) | Insertion (I) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (15146469) | Duplication (Du) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (15146469) | Translocation (T) | Y |
| G00000036 | NF1 neurofibromin 1 |
Y | (17353900) | Single nucleotide polymorphism (SNP) | Y |