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

References

Literature (25)

Pubmed - human_disease

Pubmed - other

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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