Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 GeneticVariation disease GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C1863416
Disease: Autosomal dominant compelling helio ophthalmic outburst syndrome
Autosomal dominant compelling helio ophthalmic outburst syndrome 		0.100 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.100 GeneticVariation disease BEFREE The variant genotypes of rs7763881 in HULC may contribute to decreased susceptibility to HCC in HBV persistent carriers. 22493738 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.100 GeneticVariation disease BEFREE Pertinent to clinical practice, a genetic variant in the HULC gene has been found to alter the risk for hepatocellular carcinoma and oesophageal cancer, whereas cancer patients with high or low expression of HULC exhibit different clinical outcome. 27781386 2017
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790 2017
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. 28468790 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 GeneticVariation group BEFREE Genetic polymorphisms in lncRNA HULC may affect the susceptibility and clinical outcome of cancer. 29803923 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 GeneticVariation group BEFREE Genetic polymorphisms in lncRNA HULC may affect the susceptibility and clinical outcome of cancer. 29803923 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 GeneticVariation disease BEFREE In conclusion, rs6983267 and rs7763881 are potential genetic markers of CRC predisposition and correlate with serum CCAT2 and HULC, two novel potential non-invasive diagnostic biomarkers for CRC. 29176650 2017
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.020 GeneticVariation disease BEFREE Long noncoding RNAs POLR2E rs3787016 C/T and HULC rs7763881 A/C polymorphisms are associated with decreased risk of esophageal cancer. 25874495 2015
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.020 GeneticVariation disease BEFREE Pertinent to clinical practice, a genetic variant in the HULC gene has been found to alter the risk for hepatocellular carcinoma and oesophageal cancer, whereas cancer patients with high or low expression of HULC exhibit different clinical outcome. 27781386 2017
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.010 GeneticVariation group BEFREE Long noncoding RNAs POLR2E rs3787016 C/T and HULC rs7763881 A/C polymorphisms are associated with decreased risk of esophageal cancer. 25874495 2015
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 GeneticVariation disease BEFREE Long noncoding RNAs POLR2E rs3787016 C/T and HULC rs7763881 A/C polymorphisms are associated with decreased risk of esophageal cancer. 25874495 2015
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.010 GeneticVariation disease BEFREE Serum CCAT2 and HULC were upregulated in CRC and AP patients versus controls and discriminated these groups by ROC analysis. rs6983267 GG and rs7763881 AA patients demonstrated higher serum CCAT2 and HULC compared with GT/TT and AC, respectively. rs6983267 and serum HULC predicted CRC diagnosis among non-CRC groups (AP + controls) by multivariate analysis. 29176650 2017
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 GeneticVariation disease BEFREE We have genotyped the ANRIL rs2151280 T/C, POLR2E rs3787016 C/T, and HULC rs7763881 A/C SNPs in 380 esophageal squamous cell carcinoma (ESCC) cases and 380 cancer-free controls. 25874495 2015
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation disease BEFREE Association of rs6983267 at 8q24, HULC rs7763881 polymorphisms and serum lncRNAs CCAT2 and HULC with colorectal cancer in Egyptian patients. 29176650 2017
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.330 Biomarker disease CTD_human The long noncoding RNA HULC promotes liver cancer by increasing the expression of the HMGA2 oncogene via sequestration of the microRNA-186. 28765279 2017
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.330 Biomarker disease BEFREE We aimed to investigate the association of HULC tagSNPs with the risk and prognosis of hepatocellular cancer, as well as the influence of the SNPs on lncRNA expression level. 29803923 2018
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.330 Biomarker disease BEFREE Moreover, HULC accelerates malignant progression of liver cancer cells in vitro and in vivo. 29895332 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.320 Biomarker group CTD_human The long noncoding RNA HULC promotes liver cancer by increasing the expression of the HMGA2 oncogene via sequestration of the microRNA-186. 28765279 2017