NGF, nerve growth factor, 4803

N. diseases: 616; N. variants: 11
Disease: Hereditary Sensory Autonomic Neuropathy, Type 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11466112
rs11466112
Entrez Id: 4803;112840934
Gene Symbol: NGF;NGF-AS1
NGF;NGF-AS1
CUI: C0020075
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 5 		0.710 GeneticVariation BEFREE To test this hypothesis and provide a mechanistic basis to the HSAN V phenotype, we generated transgenic mice harboring the human 661C>T mutation in the <i>Ngf</i> gene and studied both males and females. 31685654 2019
dbSNP: rs11466112
rs11466112
Entrez Id: 4803;112840934
Gene Symbol: NGF;NGF-AS1
NGF;NGF-AS1
CUI: C0020075
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 5 		A 0.710 CausalMutation CLINVAR
dbSNP: rs1272434944
rs1272434944
Entrez Id: 4803;112840934
Gene Symbol: NGF;NGF-AS1
NGF;NGF-AS1
CUI: C0020075
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 5 		0.010 GeneticVariation BEFREE Our results suggest that the p.R121W NGF mutation causes HSAN5 through negating the ability of furin to cleave proNGF to produce NGF-β. 30296891 2019
dbSNP: rs769190598
rs769190598
Entrez Id: 4803;112840934
Gene Symbol: NGF;NGF-AS1
NGF;NGF-AS1
CUI: C0020075
Disease:
Hereditary Sensory Autonomic Neuropathy, Type 5 		0.010 GeneticVariation BEFREE Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5. 30384131 2018