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:0001681 | HP:0001681 | Angina pectoris | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:425 | Apolipoprotein A-I deficiency | | | | 191 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 67 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 76 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ACTC1 CL E G H | 70 | 143 | OMIM:612098 | Cardiomyopathy, familial hypertrophic, 11 | | | | 208 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | APOA1 CL E G H | 335 | 600 | ORPHA:425 | Apolipoprotein A-I deficiency | | | | 40 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 356 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040283 - Occasional | | | 39 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | . | | | | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | . | | | 114 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040283 - Occasional | | | 115 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | JPH2 CL E G H | 57158 | 14202 | OMIM:613873 | Cardiomyopathy, familial hypertrophic, 17 | | | | 111 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | LCAT CL E G H | 3931 | 6522 | ORPHA:79292 | Fish-eye disease | HP:0040283 - Occasional | | | 26 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 2157 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 73 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | LIPC CL E G H | 3990 | 6619 | ORPHA:140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040284 - Very rare | | | 645 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:176670 | Hutchinson-Gilford progeria syndrome | . | | | 645 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040282 - Frequent | | | 178 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040284 - Very rare | | | 150 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | TNNC1 CL E G H | 7134 | 11943 | OMIM:613243 | Cardiomyopathy, familial hypertrophic, 13 | | | | 73 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | TNNT2 CL E G H | 7139 | 11949 | OMIM:115195 | Cardiomyopathy, familial hypertrophic, 2 | | | | 248 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | TTR CL E G H | 7276 | 12405 | ORPHA:85451 | ATTRV122I amyloidosis | | | | 107 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0001681 | HP:0001681 | Angina pectoris | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040284 - Very rare | | | 83 | | |