Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | ANGPTL3 CL E G H | 27329 | 491 | OMIM:605019 | HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2 | | | | 7 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | APOC3 CL E G H | 345 | 610 | OMIM:614028 | APOLIPOPROTEIN C-III DEFICIENCY | | | | 6 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | APOC3 CL E G H | 345 | 610 | ORPHA:79506 | Cholesterol-ester transfer protein deficiency | HP:0040282 - Frequent | | | 6 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | CETP CL E G H | 1071 | 1869 | ORPHA:79506 | Cholesterol-ester transfer protein deficiency | HP:0040282 - Frequent | | | 41 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0012153 | HP:0012153 | Hypotriglyceridemia | 0 | SAR1B CL E G H | 51128 | 10535 | OMIM:246700 | Chylomicron retention disease | | | | 8 | | |