LIPC, lipase C, hepatic type, 3990

N. diseases: 120; N. variants: 95
Disease: HEPATIC LIPASE DEFICIENCY (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia. 23219720 2013
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation disease UNIPROT 18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3. Mutations in brief no. 181. Online. 10660332 1998
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GermlineCausalMutation disease ORPHANET Human hepatic lipase mutations and polymorphisms. 1301939 1992
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation disease UNIPROT Human hepatic lipase mutations and polymorphisms. 1301939 1992
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation disease BEFREE We now report the identification of three more hepatic lipase gene mutations in this family and demonstrate that compound heterozygosity for two hepatic lipase mutations (designated S267F and T383M) underlies hepatic lipase deficiency. 1883393 1991
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 GeneticVariation disease CLINVAR
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 CausalMutation disease CLINVAR
CUI: C3151466
Disease: HEPATIC LIPASE DEFICIENCY (disorder)
HEPATIC LIPASE DEFICIENCY (disorder) 		0.710 Biomarker disease CTD_human