ZNF629, zinc finger protein 629, 23361

N. diseases: 34; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773132865
rs773132865
Entrez Id: 9810;23361
Gene Symbol: RNF40;ZNF629
RNF40;ZNF629
CUI: C0007137
Disease:
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE Additional Evidence for <i>DDB2</i> T338M as a Genetic Risk Factor for Ocular Squamous Cell Carcinoma in Horses. 31637255 2019
dbSNP: rs987587846
rs987587846
Entrez Id: 9810;23361
Gene Symbol: RNF40;ZNF629
RNF40;ZNF629
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		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
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
dbSNP: rs1167052126
rs1167052126
Entrez Id: 9810;23361
Gene Symbol: RNF40;ZNF629
RNF40;ZNF629
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE To better mimic human amyotrophic lateral sclerosis, we generated transgenic mice that exhibit moderate and ubiquitous expression of transactive response DNA-binding protein 43 species using genomic fragments that encode wild-type human transactive response DNA-binding protein 43 or familial amyotrophic lateral sclerosis-linked mutant transactive response DNA-binding protein 43 (G348C) and (A315T). 21752789 2011
dbSNP: rs1167052126
rs1167052126
Entrez Id: 9810;23361
Gene Symbol: RNF40;ZNF629
RNF40;ZNF629
CUI: C4551993
Disease:
Amyotrophic Lateral Sclerosis, Familial 		0.010 GeneticVariation BEFREE To better mimic human amyotrophic lateral sclerosis, we generated transgenic mice that exhibit moderate and ubiquitous expression of transactive response DNA-binding protein 43 species using genomic fragments that encode wild-type human transactive response DNA-binding protein 43 or familial amyotrophic lateral sclerosis-linked mutant transactive response DNA-binding protein 43 (G348C) and (A315T). 21752789 2011
dbSNP: rs1377510319
rs1377510319
Entrez Id: 9810;23361
Gene Symbol: RNF40;ZNF629
RNF40;ZNF629
CUI: C0271680
Disease:
Diabetic Polyneuropathies 		0.010 GeneticVariation BEFREE This study addressed the association of Leu54Phe and Val762Ala polymorphisms of PARP-1 with DPN in Russian type 1 diabetic (T1D) patients. 18054108 2008
dbSNP: rs866982082
rs866982082
Entrez Id: 9810;23361
Gene Symbol: RNF40;ZNF629
RNF40;ZNF629
CUI: C1848411
Disease:
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E 		0.010 GeneticVariation BEFREE However, overexpressed p48 peptides containing the mutations found in three Ddb(-) XPE strains are inactive, and wild type p48 restores DDB activity to extracts from a fourth XPE Ddb(-) strain, GM01389, in which compound heterozygous mutations in DDB2 (p48) lead to a L350P change from one allele and a Asn-349 deletion from the other. 10777490 2000