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:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | | | | 260 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 93 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 5 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | CYB561 CL E G H | 1534 | 2571 | OMIM:618182 | Orthostatic hypotension 2 | | | | | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | | | | | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | | | | | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 6 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 148 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | | | | 6 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 342 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | | | | 106 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 56 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | | | | 57 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | | | | 110 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | | | | 110 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0012212 | HP:0012212 | Abnormal glomerular filtration rate | 0 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | | | | 66 | | |
HP:0012212 | HP:0012214 | Increased glomerular filtration rate | 1 | CL E G H | | | | | | | | | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | HP:0040282 - Frequent | | | 260 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 93 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 5 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | CYB561 CL E G H | 1534 | 2571 | OMIM:618182 | Orthostatic hypotension 2 | . | | | | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | DNAJB11 CL E G H | 51726 | 14889 | OMIM:618061 | Polycystic kidney disease 6 with or without polycystic liver disease | . | | | | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | G6PC1 CL E G H | 2538 | 4056 | OMIM:232200 | Glycogen storage disease ia | . | | | | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | | | | 77 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 148 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 342 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | SLC22A12 CL E G H | 116085 | 17989 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 56 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | SLC2A9 CL E G H | 56606 | 13446 | ORPHA:94088 | Hereditary renal hypouricemia | HP:0040283 - Occasional | | | 57 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232220 | Glycogen storage disease ib | . | | | 110 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:232240 | GLYCOGEN STORAGE DISEASE Ic | . | | | 110 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0012212 | HP:0012213 | Decreased glomerular filtration rate | 1 | UMOD CL E G H | 7369 | 12559 | OMIM:162000 | Hyperuricemic nephropathy, familial juvenile, 1 | | | | 66 | | |