DisGeNET - a database of gene-disease associations

rs1057519369, NF1

N. diseases: 13

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Optic Nerve Glioma

CUI:	C0346326
Disease:	Optic Nerve Glioma

0.700

CausalMutation

CLINVAR

Inguinal freckling

CUI:	C1834297
Disease:	Inguinal freckling

0.700

CausalMutation

CLINVAR

Cafe-au-Lait Spots

CUI:	C0221263
Disease:	Cafe-au-Lait Spots

0.700

CausalMutation

CLINVAR

Axillary freckling

CUI:	C1860335
Disease:	Axillary freckling

0.700

CausalMutation

CLINVAR

Mild Mental Retardation

CUI:	C0026106
Disease:	Mild Mental Retardation

0.700

CausalMutation

CLINVAR

Lisch nodules

CUI:	C1860334
Disease:	Lisch nodules

0.700

CausalMutation

CLINVAR

Plexiform Neurofibroma

CUI:	C0206728
Disease:	Plexiform Neurofibroma

0.700

CausalMutation

CLINVAR

Astrocytoma

CUI:	C0004114
Disease:	Astrocytoma

0.700

CausalMutation

CLINVAR

Short stature

CUI:	C0349588
Disease:	Short stature

0.700

CausalMutation

CLINVAR

Specific learning disability

CUI:	C4025790
Disease:	Specific learning disability

0.700

CausalMutation

CLINVAR

Spinal neurofibromas

CUI:	C4024217
Disease:	Spinal neurofibromas

0.700

CausalMutation

CLINVAR

Neurofibromatosis 1

CUI:	C0027831
Disease:	Neurofibromatosis 1

0.700

CausalMutation

CLINVAR

Orbital separation excessive

CUI:	C0020534
Disease:	Orbital separation excessive

0.700

CausalMutation

CLINVAR