BICD1, BICD cargo adaptor 1, 636

N. diseases: 8; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.010 GeneticVariation disease BEFREE Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). 28635954 2017
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.130 GeneticVariation disease BEFREE The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs161976 (BICD1). 25154699 2014
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.130 GeneticVariation disease GWASCAT Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. 20709820 2011
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.130 GeneticVariation disease BEFREE Variants in BICD1 are associated with length of telomeres, which suggests that a mechanism linked to accelerated aging may be involved in the pathogenesis of emphysema. 20709820 2011
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.130 Biomarker disease BEFREE Another GWA study has shown that BICD1 in 12p11 was associated with the presence or absence of emphysema. 21778810 2011
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies BICD1 as a susceptibility gene for emphysema. 20709820 2011
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of pancreatic cancer in Japanese population. 20686608 2010
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.100 GeneticVariation disease GWASDB Genome-wide association study of pancreatic cancer in Japanese population. 20686608 2010
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 GeneticVariation disease BEFREE our study suggests that genetic variants in BICD1 are associated with qualitative emphysema in COPD. 20709820 2011
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 Biomarker disease BEFREE KRTDAP, BICD1, and genes in the OR family might play an important role in TAA. 29538353 2018