SCFD1, sec1 family domain containing 1, 23256

N. diseases: 9; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 GeneticVariation disease BEFREE Sec1 family domain-containing protein 1 (SCFD1) gene polymorphism rs10139154 has recently been implicated in the risk of developing amyotrophic lateral sclerosis (ALS). 31267315 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 GeneticVariation disease GWASCAT Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. 29566793 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 Biomarker disease BEFREE These findings add further evidence to the suspected implication of the SCFD1 gene in the pathogenesis of disease in our ALS population. 29260601 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 GeneticVariation disease GWASCAT Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. 27455348 2016
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.420 Biomarker disease CTD_human Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. 27455348 2016
CUI: C0393554
Disease: Amyotrophic Lateral Sclerosis With Dementia
Amyotrophic Lateral Sclerosis With Dementia 		0.300 Biomarker disease CTD_human Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. 27455348 2016
CUI: C0543859
Disease: Amyotrophic Lateral Sclerosis, Guam Form
Amyotrophic Lateral Sclerosis, Guam Form 		0.300 Biomarker disease CTD_human Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. 27455348 2016
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury 		0.200 Biomarker disease RGD Cloning of a putative vesicle transport-related protein, RA410, from cultured rat astrocytes and its expression in ischemic rat brain. 9195952 1997
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 GeneticVariation disease BEFREE The current study provides preliminary evidence of the involvement of SCFD1 rs10139154 in the risk of developing AD. 31267315 2019
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.010 GeneticVariation group BEFREE Homozygous scfd1 mutant embryos exhibit a profound craniofacial abnormality caused by a failure of chondrogenesis. 27851892 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE This study demonstrates for the first time that expression of a member of the SLY1-gene family has prognostic significance in human cancer. 17088907 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE This study demonstrates for the first time that expression of a member of the SLY1-gene family has prognostic significance in human cancer. 17088907 2006