RNF40, ring finger protein 40, 9810

N. diseases: 17; N. variants: 6
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs987587846
rs987587846
Entrez Id: 9810;23361
Gene Symbol: RNF40;ZNF629
RNF40;ZNF629
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE In this study, we have characterized both protein and RNA TDP-43 interactors from neuropathologically normal (control) and ALS-affected ventral lumbar spinal cord, including sporadic ALS (sALS) and familial cases harboring either a A4T mutant SOD1 or a 3' UTR *c.41G>A mutant FUS/TLS or expressing pathological c9orf72 expanded repeats. 29513014 2018