GPD1, glycerol-3-phosphate dehydrogenase 1, 2819

N. diseases: 38; N. variants: 3
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 GeneticVariation disease BEFREE This is the first reported case of HTGTI in Chinese, expanding the worldwide distribution of HTGTI and the mutation spectrum of GPD1. 29940878 2018
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 GeneticVariation disease BEFREE Biallelic mutations in the GPD1 gene cause a rare autosomal recessive inherited disease known as transient infantile hypertriglyceridemia (OMIM #614480). 28944580 2017
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 GeneticVariation disease UNIPROT A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. 24549054 2014
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 Biomarker disease GENOMICS_ENGLAND A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. 24549054 2014
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 Biomarker disease GENOMICS_ENGLAND Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. 22226083 2012
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 GeneticVariation disease UNIPROT Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. 22226083 2012
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 GermlineCausalMutation disease ORPHANET Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. 22226083 2012
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 Biomarker disease CTD_human
CUI: C3280953
Disease: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE 		0.720 CausalMutation disease CLINVAR