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:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | | | | 67 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | | | | 76 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:144650 | Hyperlipoproteinemia, type V | | | | 7 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:145750 | Hypertriglyceridemia, familial | | | | 7 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | | | | 356 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | | | | 356 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOC3 CL E G H | 345 | 610 | OMIM:614028 | APOLIPOPROTEIN C-III DEFICIENCY | | | | 6 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOC3 CL E G H | 345 | 610 | ORPHA:79506 | Cholesterol-ester transfer protein deficiency | HP:0040280 - Obligate | | | 6 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | | | | 39 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | | | | 1 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | CETP CL E G H | 1071 | 1869 | ORPHA:79506 | Cholesterol-ester transfer protein deficiency | HP:0040280 - Obligate | | | 41 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | CYP7A1 CL E G H | 1581 | 2651 | ORPHA:209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | | | | 11 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | . | | | 12 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:136120 | Fish-Eye disease | | | | 26 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | | | | 2157 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | | | | 73 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LDLRAP1 CL E G H | 26119 | 18640 | OMIM:603813 | Hypercholesterolemia, autosomal recessive | | | | 73 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LIPC CL E G H | 3990 | 6619 | ORPHA:140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | | | | 35 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | | | | 645 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LPL CL E G H | 4023 | 6677 | OMIM:144250 | Hyperlipidemia, familial combined, 3 | | | | 106 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | | | | 106 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | | | | 26 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | | | | 178 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | | | | 164 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | | | | 164 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | | | | 4 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | | | | 62 | | |
HP:0010980 | HP:0010980 | Hyperlipoproteinemia | 0 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | | | | 25 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | ABCA2 CL E G H | 20 | 32 | OMIM:618808 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA | | | | | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040280 - Obligate | | | 67 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040280 - Obligate | | | 76 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | ALB CL E G H | 213 | 399 | OMIM:616000 | Analbuminemia | | | | 104 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0010980 | HP:0012238 | Increased circulating chylomicron concentration | 1 | APOA5 CL E G H | 116519 | 17288 | OMIM:144650 | Hyperlipoproteinemia, type V | . | | | 7 | | |
HP:0010980 | HP:0003362 | Increased VLDL cholesterol concentration | 1 | APOA5 CL E G H | 116519 | 17288 | OMIM:144650 | Hyperlipoproteinemia, type V | . | | | 7 | | |
HP:0010980 | HP:0003362 | Increased VLDL cholesterol concentration | 1 | APOA5 CL E G H | 116519 | 17288 | OMIM:145750 | Hypertriglyceridemia, familial | . | | | 7 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040280 - Obligate | | | 356 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | | | | 356 | | |
HP:0010980 | HP:0012238 | Increased circulating chylomicron concentration | 1 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0010980 | HP:0012184 | Increased HDL cholesterol concentration | 1 | APOC3 CL E G H | 345 | 610 | OMIM:614028 | APOLIPOPROTEIN C-III DEFICIENCY | | | | 6 | | |
HP:0010980 | HP:0012184 | Increased HDL cholesterol concentration | 1 | APOC3 CL E G H | 345 | 610 | ORPHA:79506 | Cholesterol-ester transfer protein deficiency | HP:0040280 - Obligate | | | 6 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040281 - Very frequent | | | 39 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | CELA2A CL E G H | 63036 | 24609 | OMIM:618620 | ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4 | | | | 1 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | CEP19 CL E G H | 84984 | 28209 | OMIM:615703 | Morbid obesity and spermatogenic failure | | | | 1 | | |
HP:0010980 | HP:0012184 | Increased HDL cholesterol concentration | 1 | CETP CL E G H | 1071 | 1869 | ORPHA:79506 | Cholesterol-ester transfer protein deficiency | HP:0040280 - Obligate | | | 41 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | CYP7A1 CL E G H | 1581 | 2651 | ORPHA:209902 | Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency | HP:0040281 - Very frequent | | | 11 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0010980 | HP:0012238 | Increased circulating chylomicron concentration | 1 | GPIHBP1 CL E G H | 338328 | 24945 | OMIM:615947 | Hyperlipoproteinemia, type ID | | | | 12 | | |
HP:0010980 | HP:0003362 | Increased VLDL cholesterol concentration | 1 | LCAT CL E G H | 3931 | 6522 | OMIM:136120 | Fish-Eye disease | . | | | 26 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LCAT CL E G H | 3931 | 6522 | OMIM:136120 | Fish-Eye disease | . | | | 26 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040280 - Obligate | | | 2157 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040280 - Obligate | | | 73 | | |
HP:0010980 | HP:0003362 | Increased VLDL cholesterol concentration | 1 | LDLRAP1 CL E G H | 26119 | 18640 | OMIM:603813 | Hypercholesterolemia, autosomal recessive | . | | | 73 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0010980 | HP:0012184 | Increased HDL cholesterol concentration | 1 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0010980 | HP:0012184 | Increased HDL cholesterol concentration | 1 | LIPC CL E G H | 3990 | 6619 | ORPHA:140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | HP:0040280 - Obligate | | | 35 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | HP:0040283 - Occasional | | | 645 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LPL CL E G H | 4023 | 6677 | OMIM:144250 | Hyperlipidemia, familial combined, 3 | | | | 106 | | |
HP:0010980 | HP:0003362 | Increased VLDL cholesterol concentration | 1 | LPL CL E G H | 4023 | 6677 | OMIM:144250 | Hyperlipidemia, familial combined, 3 | | | | 106 | | |
HP:0010980 | HP:0012238 | Increased circulating chylomicron concentration | 1 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | LRP6 CL E G H | 4040 | 6698 | OMIM:610947 | Coronary artery disease, autosomal dominant 2 | | | | 26 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040280 - Obligate | | | 178 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040283 - Occasional | | | 82 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | SMPD1 CL E G H | 6609 | 11120 | ORPHA:77293 | Niemann-Pick disease type B | HP:0040282 - Frequent | | | 164 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | SMPD1 CL E G H | 6609 | 11120 | OMIM:607616 | Niemann-pick disease, type B | . | | | 164 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | TMEM199 CL E G H | 147007 | 18085 | OMIM:616829 | Congenital disorder of glycosylation, type IIP | | | | 4 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0010980 | HP:0003141 | Increased LDL cholesterol concentration | 1 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | . | | | 62 | | |
HP:0010980 | HP:0003362 | Increased VLDL cholesterol concentration | 1 | UBR1 CL E G H | 197131 | 16808 | OMIM:243800 | Johanson-Blizzard syndrome | . | | | 25 | | |