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:0000093 | HP:0000093 | Proteinuria | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ACSL4 CL E G H | 2182 | 3571 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ACTN4 CL E G H | 81 | 166 | OMIM:603278 | Focal segmental glomerulosclerosis 1 | . | | | 27 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 27 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | AMMECR1 CL E G H | 9949 | 467 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | AMN CL E G H | 81693 | 14604 | OMIM:618882 | IMERSLUND-GRASBECK SYNDROME 2; IGS2 | | | | 25 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ANLN CL E G H | 54443 | 14082 | OMIM:616032 | Focal segmental glomerulosclerosis 8 | . | | | 6 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 6 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | | | | 40 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | APOE CL E G H | 348 | 613 | OMIM:611771 | LIPOPROTEIN GLOMERULOPATHY; LPG | | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | APRT CL E G H | 353 | 626 | ORPHA:976 | Adenine phosphoribosyltransferase deficiency | HP:0040282 - Frequent | | | 19 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 4 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ARHGDIA CL E G H | 396 | 678 | OMIM:615244 | Nephrotic syndrome, type 8 | . | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | | | | 8 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CD2AP CL E G H | 23607 | 14258 | OMIM:607832 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 | | | | 105 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 105 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | | | | 112 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | | | | 112 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:310468 | Nephrolithiasis, type I | | | | 112 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | | | | 112 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:104200 | Alport syndrome, autosomal dominant | . | | | 161 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COL4A3 CL E G H | 1285 | 2204 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 161 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 161 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COL4A4 CL E G H | 1286 | 2206 | OMIM:203780 | Alport syndrome, autosomal recessive | . | | | 174 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COL4A5 CL E G H | 1287 | 2207 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 678 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COL4A6 CL E G H | 1288 | 2208 | ORPHA:1018 | X-linked Alport syndrome-diffuse leiomyomatosis | HP:0040282 - Frequent | | | 18 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COQ6 CL E G H | 51004 | 20233 | OMIM:614650 | Coenzyme Q10 deficiency, primary, 6 | . | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 35 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COQ8B CL E G H | 79934 | 19041 | OMIM:615573 | Nephrotic syndrome, type 9 | . | | | 35 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040281 - Very frequent | | | 5 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 12 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | . | | | 178 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | | | | 178 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 273 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | CUBN CL E G H | 8029 | 2548 | OMIM:261100 | Megaloblastic anemia 1 | | | | 273 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | | | | 62 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DGKE CL E G H | 8526 | 2852 | OMIM:615008 | Nephrotic syndrome, type 7 | . | | | 17 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DLST CL E G H | 1743 | 2911 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040282 - Frequent | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 44 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | EHHADH CL E G H | 1962 | 3247 | OMIM:615605 | Fanconi renotubular syndrome 3 | . | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 4 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | EPAS1 CL E G H | 2034 | 3374 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 112 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ERCC4 CL E G H | 2072 | 3436 | OMIM:610965 | XFE progeroid syndrome | . | | | 158 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | | | | 47 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FH CL E G H | 2271 | 3700 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 301 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040281 - Very frequent | | | 11 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:84090 | Fibronectin glomerulopathy | HP:0040281 - Very frequent | | | 9 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:601894 | Glomerulopathy with fibronectin deposits 2 | . | | | 9 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | FOXC2 CL E G H | 2303 | 3801 | ORPHA:33001 | Lymphedema-distichiasis syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GATM CL E G H | 2628 | 4175 | OMIM:134600 | Fanconi renotubular syndrome 1 | . | | | 86 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040282 - Frequent | | | 291 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040283 - Occasional | | | 53 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | HNF4A CL E G H | 3172 | 5024 | OMIM:616026 | Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | . | | | 138 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:263455 | Hyperinsulinism due to HNF4A deficiency | HP:0040282 - Frequent | | | 138 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:613237 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5; FSGS5 | | | | 135 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 135 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:617783 | Nephrotic syndrome, type 16 | . | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | KCNE5 CL E G H | 23630 | 6241 | ORPHA:86818 | Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | KIF1B CL E G H | 23095 | 16636 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 202 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 202 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | KIRREL1 CL E G H | 55243 | 15734 | OMIM:619201 | NEPHROTIC SYNDROME, TYPE 23; NPHS23 | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:614199 | Nephrotic syndrome, type 5, with or without ocular abnormalities | | | | 92 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | . | | | 92 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:245900 | Lecithin:cholesterol acyltransferase deficiency | . | | | 26 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | HP:0040283 - Occasional | | | 11 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LMNB2 CL E G H | 84823 | 6638 | OMIM:608709 | Lipodystrophy, partial, acquired, susceptibility to | . | | | 11 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:161200 | Nail-Patella syndrome | . | | | 165 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2614 | Nail-patella syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LMX1B CL E G H | 4010 | 6654 | OMIM:256020 | NAIL-PATELLA-LIKE RENAL DISEASE | | | | 165 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:2613 | Nail-patella-like renal disease | HP:0040281 - Very frequent | | | 165 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040283 - Occasional | | | 186 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040281 - Very frequent | | | 289 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | | | | 32 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy | HP:0040281 - Very frequent | | | 63 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MAFB CL E G H | 9935 | 6408 | OMIM:166300 | Multicentric carpotarsal osteolysis syndrome | . | | | 63 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 59 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MAGI2 CL E G H | 9863 | 18957 | OMIM:617609 | Nephrotic syndrome, type 15 | . | | | 59 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MAX CL E G H | 4149 | 6913 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 84 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MAX CL E G H | 4149 | 6913 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 84 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MDH2 CL E G H | 4191 | 6971 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 4 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040282 - Frequent | | | 281 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:134610 | FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT | | | | 281 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MYH9 CL E G H | 4627 | 7579 | ORPHA:182050 | MYH9-related disease | HP:0040282 - Frequent | | | 297 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MYO1E CL E G H | 4643 | 7599 | OMIM:614131 | Focal segmental glomerulosclerosis 6 | . | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 1952 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | HP:0040283 - Occasional | | | 494 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NOS1AP CL E G H | 9722 | 16859 | OMIM:619155 | NEPHROTIC SYNDROME, TYPE 22; NPHS22 | | | | 4 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NOS3 CL E G H | 4846 | 7876 | OMIM:189800 | Preeclampsia/eclampsia 1 | . | | | 8 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | . | | | 138 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:839 | Congenital nephrotic syndrome, Finnish type | HP:0040281 - Very frequent | | | 241 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 241 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NPHS1 CL E G H | 4868 | 7908 | OMIM:256300 | Nephrotic syndrome, type 1 | . | | | 241 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 69 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NPHS2 CL E G H | 7827 | 13394 | OMIM:600995 | Nephrotic syndrome, type 2 | . | | | 69 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 5 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:616730 | Nephrotic syndrome, type 11 | | | | 5 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618349 | Galloway-Mowat syndrome 8 | . | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP133 CL E G H | 55746 | 18016 | OMIM:618177 | NEPHROTIC SYNDROME, TYPE 18; NPHS18 | | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP160 CL E G H | 23279 | 18017 | OMIM:618178 | Nephrotic syndrome, type 19 | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP85 CL E G H | 79902 | 8734 | OMIM:618176 | Nephrotic syndrome, type 17 | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 5 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:616002 | Focal segmental glomerulosclerosis 7 | . | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | . | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PDSS2 CL E G H | 57107 | 23041 | OMIM:614652 | Coenzyme Q10 deficiency, primary, 3 | . | | | 54 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | | | | 54 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 118 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PLCE1 CL E G H | 51196 | 17175 | OMIM:610725 | Nephrotic syndrome, type 3 | . | | | 118 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PRODH CL E G H | 5625 | 9453 | ORPHA:419 | Hyperprolinemia type 1 | HP:0040282 - Frequent | | | 13 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | HP:0040283 - Occasional | | | 96 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PTPRO CL E G H | 5800 | 9678 | OMIM:614196 | Nephrotic syndrome, type 6 | . | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | PYGL CL E G H | 5836 | 9725 | ORPHA:369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | HP:0040284 - Very rare | | | 71 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | REN CL E G H | 5972 | 9958 | OMIM:613092 | Hyperuricemic nephropathy, familial juvenile, 2 | | | | 25 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | RET CL E G H | 5979 | 9967 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | RET CL E G H | 5979 | 9967 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 572 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | RET CL E G H | 5979 | 9967 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 572 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | 77 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 304 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHAF2 CL E G H | 54949 | 26034 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 55 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 237 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 237 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 147 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 129 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 129 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC25A11 CL E G H | 8402 | 10981 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC35A1 CL E G H | 10559 | 11021 | OMIM:603585 | Congenital disorder of glycosylation, type IIf | . | | | 24 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | 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:0000093 | HP:0000093 | Proteinuria | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SLITRK6 CL E G H | 84189 | 23503 | OMIM:221200 | Deafness and myopia | . | | | 4 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040281 - Very frequent | | | 74 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040283 - Occasional | | | 94 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SPRY2 CL E G H | 10253 | 11270 | OMIM:616818 | Iga nephropathy, susceptibility to, 3 | | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TBC1D8B CL E G H | 54885 | 24715 | OMIM:301028 | Nephrotic syndrome, type 20 | . | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TMEM127 CL E G H | 55654 | 26038 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 131 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TMEM127 CL E G H | 55654 | 26038 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 131 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TPRKB CL E G H | 51002 | 24259 | OMIM:617731 | Galloway-Mowat syndrome 5 | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040282 - Frequent | | | 56 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:192315 | Vasculopathy, retinal, with cerebral leukodystrophy | . | | | 56 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRPC6 CL E G H | 7225 | 12338 | OMIM:603965 | Focal segmental glomerulosclerosis 2 | . | | | 107 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 107 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:29072 | Hereditary pheochromocytoma-paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VHL CL E G H | 7428 | 12687 | OMIM:171300 | PHEOCHROMOCYTOMA | . | | | 490 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:276621 | Sporadic pheochromocytoma/secreting paraganglioma | HP:0040282 - Frequent | | | 490 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | | | | 27 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040281 - Very frequent | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620010 | | | | | 63 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | | | | 95 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | HP:0040284 - Very rare | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:220 | Denys-Drash syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040280 - Obligate | | | 177 | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0000093 | HP:0000093 | Proteinuria | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:617006 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2 | | | | 46 | | |
HP:0000093 | HP:4000058 | Glomerular proteinuria | 1 | CL E G H | | | | | | | | | | |
HP:0000093 | HP:0012596 | Moderate proteinuria | 1 | CL E G H | | | | | | | | | | |
HP:0000093 | HP:0012593 | Nephrotic range proteinuria | 1 | CD81 CL E G H | 975 | 1701 | OMIM:613496 | Immunodeficiency, common variable, 6 | | | | 1 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | | | | 112 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:310468 | Nephrolithiasis, type I | . | | | 112 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:308990 | Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis | | | | 112 | | |
HP:0000093 | HP:0012597 | Heavy proteinuria | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0000093 | HP:0012593 | Nephrotic range proteinuria | 1 | DDOST CL E G H | 1650 | 2728 | ORPHA:300536 | DDOST-CDG | HP:0040284 - Very rare | | | 62 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | EHHADH CL E G H | 1962 | 3247 | OMIM:615605 | Fanconi renotubular syndrome 3 | | | | 2 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0000093 | HP:0012595 | Mild proteinuria | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000093 | HP:0012593 | Nephrotic range proteinuria | 1 | NOS1AP CL E G H | 9722 | 16859 | OMIM:619155 | NEPHROTIC SYNDROME, TYPE 22; NPHS22 | | | | 4 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0000093 | HP:0012595 | Mild proteinuria | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0000093 | HP:0012597 | Heavy proteinuria | 1 | PDSS2 CL E G H | 57107 | 23041 | ORPHA:255249 | Leigh syndrome with nephrotic syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0000093 | HP:0012595 | Mild proteinuria | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 56 | | |
HP:0000093 | HP:0012595 | Mild proteinuria | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 57 | | |
HP:0000093 | HP:0003126 | Low-molecular-weight proteinuria | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040281 - Very frequent | | | 47 | | |
HP:0000093 | HP:0012593 | Nephrotic range proteinuria | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040282 - Frequent | | | 74 | | |
HP:0000093 | HP:0012597 | Heavy proteinuria | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0000093 | HP:0012595 | Mild proteinuria | 1 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0000093 | HP:0012595 | Mild proteinuria | 1 | WDR19 CL E G H | 57728 | 18340 | OMIM:614377 | Nephronophthisis 13 | HP:0040283 - Occasional | | | 95 | | |