EFHD1, EF-hand domain family member D1, 80303

N. diseases: 8; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		0.300 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0036095
Disease: Salivary Gland Neoplasms
Salivary Gland Neoplasms 		0.300 Biomarker group CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0220636
Disease: Malignant neoplasm of salivary gland
Malignant neoplasm of salivary gland 		0.300 Biomarker disease CTD_human Genes associated with early development, apoptosis and cell cycle regulation define a gene expression profile of adenoid cystic carcinoma. 16762588 2006
CUI: C0201836
Disease: Alanine aminotransferase measurement
Alanine aminotransferase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1883008
Disease: Serum Alanine Aminotransferase Measurement
Serum Alanine Aminotransferase Measurement 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 22001757 2011
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. 22001757 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE In combined analysis with EFHD1, both genes were methylated in 53% (64/120) of CRC patients, but only in 4% (4/96) of noncancer patients (P = 2 × 10(-16) ), giving high specificity of 96%. 24861485 2014