Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | | | | 9 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | . | | | 3179 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 385 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 102 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | | | | 102 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 1 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 172 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | FLCN CL E G H | 201163 | 27310 | ORPHA:122 | Birt-Hogg-Dubé syndrome | HP:0040282 - Frequent | | | 332 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:135150 | Birt-Hogg-Dube syndrome | | | | 332 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | . | | | 16 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 196 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1879 | Melorheostosis with osteopoikilosis | HP:0040283 - Occasional | | | 68 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040282 - Frequent | | | 462 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:2398 | Multiple symmetric lipomatosis | HP:0040281 - Very frequent | | | 203 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | | | | 948 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | | | | 948 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | RNR1 CL E G H | 4549 | 7470 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040283 - Occasional | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNP CL E G H | 4571 | 7494 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:551 | MERRF | HP:0040282 - Frequent | | | | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 111 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 2 | | |
HP:0001012 | HP:0001012 | Multiple lipomas | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0001012 | HP:0025476 | Testicular lipomatosis | 1 | CL E G H | | | | | | | | | | |
HP:0001012 | HP:0006773 | Cutaneous angiolipomas | 1 | CL E G H | | | | | | | | | | |
HP:0001012 | HP:0034009 | Pelvic lipomatosis | 1 | CL E G H | | | | | | | | | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0001012 | HP:0100251 | Multiple central nervous system lipomas | 1 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0001012 | HP:0100251 | Multiple central nervous system lipomas | 1 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0001012 | HP:0100251 | Multiple central nervous system lipomas | 1 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | | | | 9 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040284 - Very rare | | | 385 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0001012 | HP:0100251 | Multiple central nervous system lipomas | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040284 - Very rare | | | 948 | | |
HP:0001012 | HP:0001031 | Subcutaneous lipoma | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0001012 | HP:0100251 | Multiple central nervous system lipomas | 1 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0001012 | HP:0007596 | Painful subcutaneous lipomas | 2 | CL E G H | | | | | | | | | | |
HP:0001012 | HP:0006866 | Midline central nervous system lipomas | 2 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0001012 | HP:0006866 | Midline central nervous system lipomas | 2 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0001012 | HP:0006866 | Midline central nervous system lipomas | 2 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | | | | 9 | | |
HP:0001012 | HP:0006866 | Midline central nervous system lipomas | 2 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040281 - Very frequent | | | 5 | | |
HP:0001012 | HP:0006931 | Pericallosal lipoma | 3 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001012 | HP:0006931 | Pericallosal lipoma | 3 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | | | | 9 | | |
HP:0001012 | HP:0006931 | Pericallosal lipoma | 3 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040282 - Frequent | | | 9 | | |
HP:0001012 | HP:0034014 | Tubulonodular pericallosal lipoma | 4 | CL E G H | | | | | | | | | | |
HP:0001012 | HP:0034013 | Curvilinear pericallosal lipoma | 4 | CL E G H | | | | | | | | | | |