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:0000991 | HP:0000991 | Xanthomatosis | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:425 | Apolipoprotein A-I deficiency | HP:0040282 - Frequent | | | 191 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 67 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | ABCG5 CL E G H | 64240 | 13886 | OMIM:618666 | SITOSTEROLEMIA 2; STSL2 | | | | 67 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 76 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOA1 CL E G H | 335 | 600 | ORPHA:425 | Apolipoprotein A-I deficiency | HP:0040282 - Frequent | | | 40 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:145750 | Hypertriglyceridemia, familial | | | | 7 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 356 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | | | | 356 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | | | | 39 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 172 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 196 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 2157 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LDLRAP1 CL E G H | 26119 | 18640 | OMIM:603813 | Hypercholesterolemia, autosomal recessive | | | | 73 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LIPC CL E G H | 3990 | 6619 | ORPHA:140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | | | | 35 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LMF1 CL E G H | 64788 | 14154 | OMIM:246650 | LIPASE DEFICIENCY, COMBINED | | | | 3 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040281 - Very frequent | | | 645 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79084 | Familial partial lipodystrophy, Köbberling type | HP:0040282 - Frequent | | | 645 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LPL CL E G H | 4023 | 6677 | OMIM:144250 | Hyperlipidemia, familial combined, 3 | | | | 106 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | | | | 106 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 178 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 42 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | SMPD1 CL E G H | 6609 | 11120 | OMIM:257200 | Niemann-Pick disease, type A | . | | | 164 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0000991 | HP:0000991 | Xanthomatosis | 0 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | | | | 62 | | |
HP:0000991 | HP:0031517 | Verruciform xanthoma | 1 | CL E G H | | | | | | | | | | |
HP:0000991 | HP:0025530 | Xanthomas of the palmar creases | 1 | CL E G H | | | | | | | | | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | ABCA1 CL E G H | 19 | 29 | ORPHA:425 | Apolipoprotein A-I deficiency | | | | 191 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | ABCG5 CL E G H | 64240 | 13886 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 67 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | ABCG5 CL E G H | 64240 | 13886 | OMIM:618666 | SITOSTEROLEMIA 2; STSL2 | | | | 67 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | ABCG8 CL E G H | 64241 | 13887 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 76 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0000991 | HP:0031290 | Tuberous xanthoma | 1 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | . | | | 76 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | APOA1 CL E G H | 335 | 600 | ORPHA:425 | Apolipoprotein A-I deficiency | | | | 40 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0000991 | HP:0001039 | Atheroeruptive xanthoma | 1 | APOA5 CL E G H | 116519 | 17288 | OMIM:145750 | Hypertriglyceridemia, familial | . | | | 7 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | APOB CL E G H | 338 | 603 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 356 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | . | | | 356 | | |
HP:0000991 | HP:0001013 | Eruptive xanthomas | 1 | APOC2 CL E G H | 344 | 609 | OMIM:207750 | APOLIPOPROTEIN C-II DEFICIENCY | | | | 27 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040282 - Frequent | | | 39 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040282 - Frequent | | | 39 | | |
HP:0000991 | HP:0031290 | Tuberous xanthoma | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | . | | | 114 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | LDLR CL E G H | 3949 | 6547 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 2157 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | LDLRAP1 CL E G H | 26119 | 18640 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | LDLRAP1 CL E G H | 26119 | 18640 | OMIM:603813 | Hypercholesterolemia, autosomal recessive | . | | | 73 | | |
HP:0000991 | HP:0001013 | Eruptive xanthomas | 1 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0000991 | HP:0001013 | Eruptive xanthomas | 1 | LIPC CL E G H | 3990 | 6619 | ORPHA:140905 | Hyperlipidemia due to hepatic triacylglycerol lipase deficiency | HP:0040281 - Very frequent | | | 35 | | |
HP:0000991 | HP:0031290 | Tuberous xanthoma | 1 | LMF1 CL E G H | 64788 | 14154 | OMIM:246650 | LIPASE DEFICIENCY, COMBINED | | | | 3 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | LPL CL E G H | 4023 | 6677 | OMIM:144250 | Hyperlipidemia, familial combined, 3 | HP:0040283 - Occasional | | | 106 | | |
HP:0000991 | HP:0001013 | Eruptive xanthomas | 1 | LPL CL E G H | 4023 | 6677 | OMIM:238600 | Type I hyperlipoproteinemia | . | | | 106 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | PCSK9 CL E G H | 255738 | 20001 | ORPHA:391665 | Homozygous familial hypercholesterolemia | HP:0040283 - Occasional | | | 178 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0000991 | HP:0001114 | Xanthelasma | 1 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | . | | | 62 | | |
HP:0000991 | HP:0010874 | Tendon xanthomatosis | 1 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | . | | | 62 | | |