Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | ACTN4 CL E G H | 81 | 603278 | Focal segmental glomerulosclerosis 1 | 603278 | C0333497 | OMIM | 1 | | 308 | 166 | 604638 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | ANLN CL E G H | 54443 | 616032 | Focal segmental glomerulosclerosis 8 | 616032 | C4014993 | OMIM | 1 | | 369 | 14082 | 616027 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | CD2AP CL E G H | 23607 | 607832 | Focal segmental glomerulosclerosis 3, susceptibility to | 607832 | C1842982 | OMIM | 1 | | 341 | 14258 | 604241 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | CLCN5 CL E G H | 1184 | 308990 | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | 308990 | C1839874 | OMIM | 1 | | 518 | 2023 | 300008 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | COQ6 CL E G H | 51004 | 614650 | Coenzyme Q10 deficiency, primary, 6 | 614650 | C3553349 | OMIM | 1 | | 273 | 20233 | 614647 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | COQ8B CL E G H | 79934 | 615573 | Nephrotic syndrome, type 9 | 615573 | C3809965 | OMIM | 1 | | 236 | 19041 | 615567 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | CRB2 CL E G H | 286204 | 616220 | Focal segmental glomerulosclerosis 9 | 616220 | C4015555 | OMIM | 1 | | 585 | 18688 | 609720 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | G6PC CL E G H | 2538 | 232200 | Glycogen storage disease type 1A | 232200 | C2919796 | OMIM | 1 | | | 4056 | 613742 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | INF2 CL E G H | 64423 | 614455 | Charcot-Marie-Tooth disease, dominant intermediate E | 614455 | C3280845 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | INF2 CL E G H | 64423 | 613237 | Focal segmental glomerulosclerosis 5 | 613237 | C2750475 | OMIM | 1 | | 1325 | 23791 | 610982 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | MYO1E CL E G H | 4643 | 614131 | Focal segmental glomerulosclerosis 6 | 614131 | C3279905 | OMIM | 1 | | 447 | 7599 | 601479 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 302 | 26274 | 612803 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NPHS2 CL E G H | 7827 | 600995 | Nephrotic syndrome, idiopathic, steroid-resistant | 600995 | CN034406 | OMIM | 1 | | 442 | 13394 | 604766 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NUP133 CL E G H | 55746 | 618177 | NEPHROTIC SYNDROME, TYPE 18 | 618177 | | OMIM | 1 | | 199 | 18016 | 607613 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NUP160 CL E G H | 23279 | 618178 | NEPHROTIC SYNDROME, TYPE 19 | 618178 | | OMIM | 1 | | 215 | 18017 | 607614 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NUP205 CL E G H | 23165 | 616893 | Nephrotic syndrome, type 13 | 616893 | C4225165 | OMIM | 1 | | 407 | 18658 | 614352 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NUP85 CL E G H | 79902 | 618176 | NEPHROTIC SYNDROME, TYPE 17 | 618176 | | OMIM | 1 | | 129 | 8734 | 170285 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | PAX2 CL E G H | 5076 | 616002 | Focal segmental glomerulosclerosis 7 | 616002 | C4014925 | OMIM | 1 | | 406 | 8616 | 167409 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | PLCE1 CL E G H | 51196 | 610725 | Nephrotic syndrome, type 3 | 610725 | C1853124 | OMIM | 1 | | 528 | 17175 | 608414 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | PTPRO CL E G H | 5800 | 614196 | Nephrotic syndrome, type 6 | 614196 | C3280100 | OMIM | 1 | | 278 | 9678 | 600579 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | REN CL E G H | 5972 | 613092 | Hyperuricemic nephropathy, familial juvenile, 2 | 613092 | C2751310 | OMIM | 1 | | 153 | 9958 | 179820 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 474 | 1665 | 602257 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | SGPL1 CL E G H | 8879 | 617575 | Nephrotic syndrome type 14 | 617575 | C4539778 | OMIM | 1 | | 218 | 10817 | 603729 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | SLC37A4 CL E G H | 2542 | 232240 | Phosphate transport defect | 232240 | C0342749 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | TRPC6 CL E G H | 7225 | 603965 | Focal segmental glomerulosclerosis 2 | 603965 | C1858915 | OMIM | 1 | | 389 | 12338 | 603652 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | VPS33A CL E G H | 65082 | 617303 | Mucopolysaccharidosis-plus syndrome | 617303 | C4310627 | OMIM | 1 | | 274 | 18179 | 610034 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | WDR73 CL E G H | 84942 | 251300 | Galloway-Mowat syndrome 1 | 251300 | CN031715 | OMIM | 1 | | 220 | 25928 | 616144 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | WT1 CL E G H | 7490 | 194080 | Drash syndrome | 194080 | C0950121 | OMIM | 1 | | 1371 | 12796 | 607102 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | WT1 CL E G H | 7490 | 136680 | Frasier syndrome | 136680 | C0950122 | OMIM | 1 | | 1371 | 12796 | 607102 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | WT1 CL E G H | 7490 | 347 | Yorifuji Okuno syndrome | | | ORPHA | 1 | | 1371 | 12796 | 607102 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | ITGA3 CL E G H | 3675 | 614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | 614748 | C3553636 | OMIM | 0 | | 308 | 6139 | 605025 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | JAG1 CL E G H | 182 | 118450 | Alagille syndrome 1 | 118450 | C1956125 | OMIM | 0 | | 1605 | 6188 | 601920 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NUP107 CL E G H | 57122 | 616730 | Nephrotic syndrome, type 11 | 616730 | C4225228 | OMIM | 0 | | 242 | 29914 | 607617 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | NUP93 CL E G H | 9688 | 616892 | Nephrotic syndrome, type 12 | 616892 | C4225166 | OMIM | 0 | | 204 | 28958 | 614351 |
HP:0000097 | HP:0000097 | Focal segmental glomerulosclerosis | 0 | WT1 CL E G H | 7490 | 256370 | Diffuse mesangial sclerosis | 256370 | C0268747 | OMIM | 0 | | 1371 | 12796 | 607102 |