DHX38, DEAH-box helicase 38, 9785

N. diseases: 39; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766053952
rs766053952
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C4748725
Disease:
RETINITIS PIGMENTOSA 84 		A 0.800 GeneticVariation CLINVAR Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. 30208423 2018
dbSNP: rs766053952
rs766053952
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C4748725
Disease:
RETINITIS PIGMENTOSA 84 		A 0.800 CausalMutation CLINVAR
dbSNP: rs766053952
rs766053952
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C4748725
Disease:
RETINITIS PIGMENTOSA 84 		0.800 GeneticVariation UNIPROT
dbSNP: rs142589036
rs142589036
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs9302635
rs9302635
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs1050362
rs1050362
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs587777554
rs587777554
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C4748725
Disease:
RETINITIS PIGMENTOSA 84 		0.700 GeneticVariation UNIPROT Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. 30208423 2018
dbSNP: rs9302635
rs9302635
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs9302635
rs9302635
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C0373607
Disease:
Ferritin measurement 		C 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
dbSNP: rs9302635
rs9302635
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C0696113
Disease:
Serum ferritin measurement 		C 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
dbSNP: rs587777554
rs587777554
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C4748725
Disease:
RETINITIS PIGMENTOSA 84 		0.700 GeneticVariation UNIPROT A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. 24737827 2014
dbSNP: rs2287997
rs2287997
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C0202202
Disease:
Protein measurement 		0.700 GeneticVariation GWASCAT Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. 23696881 2013
dbSNP: rs2287997
rs2287997
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C0523465
Disease:
Serum albumin measurement 		0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
dbSNP: rs766053952
rs766053952
Entrez Id: 9785
Gene Symbol: DHX38
DHX38
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE A novel missense DHX38 variant c.971G>A; p.(Arg324Gln) was identified which segregates with the arRP phenotype and yielded a logarithm of the odds (LOD) score of 5.0 and 4.3 for families MA88 and MA157, respectively. 30208423 2018