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:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 93 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | APRT CL E G H | 353 | 626 | OMIM:614723 | Adenine phosphoribosyltransferase deficiency | | | | 19 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 5 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | C3 CL E G H | 718 | 1318 | OMIM:612925 | Hemolytic uremic syndrome, atypical, susceptibility to, 5 | . | | | 92 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040282 - Frequent | | | 1 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CD46 CL E G H | 4179 | 6953 | OMIM:612922 | Hemolytic uremic syndrome, atypical, susceptibility to, 2 | . | | | 39 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CFB CL E G H | 629 | 1037 | OMIM:612924 | Hemolytic uremic syndrome, atypical, susceptibility to, 4 | . | | | 30 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CFI CL E G H | 3426 | 5394 | OMIM:612923 | Hemolytic uremic syndrome, atypical, susceptibility to, 3 | . | | | 57 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | COQ7 CL E G H | 10229 | 2244 | OMIM:616733 | Coenzyme Q10 deficiency, primary, 8 | | | | 1 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CORIN CL E G H | 10699 | 19012 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 5 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | ELP1 CL E G H | 8518 | 5959 | OMIM:223900 | Neuropathy, hereditary sensory and autonomic, type III | . | | | 133 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | FAN1 CL E G H | 22909 | 29170 | OMIM:614817 | Interstitial nephritis, karyomegalic | . | | | 15 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | FLT1 CL E G H | 2321 | 3763 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 11 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 6 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040283 - Occasional | | | 580 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | HPRT1 CL E G H | 3251 | 5157 | ORPHA:79233 | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 148 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:266900 | Senior-Loken syndrome 1 | | | | 85 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 342 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040281 - Very frequent | | | 106 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | . | | | 106 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | SLC22A12 CL E G H | 116085 | 17989 | OMIM:220150 | Hypouricemia, renal, 1 | | | | 56 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | SLC41A1 CL E G H | 254428 | 19429 | OMIM:619468 | NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2; NPHPL2 | | | | | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | STOX1 CL E G H | 219736 | 23508 | ORPHA:275555 | Preeclampsia | HP:0040284 - Very rare | | | 2 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | THBD CL E G H | 7056 | 11784 | OMIM:612926 | Hemolytic uremic syndrome, atypical, susceptibility to, 6 | . | | | 60 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | TMEM260 CL E G H | 54916 | 20185 | OMIM:617478 | Structural heart defects and renal anomalies syndrome | | | | 2 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040282 - Frequent | | | 56 | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003259 | HP:0003259 | Elevated circulating creatinine concentration | 0 | WDR19 CL E G H | 57728 | 18340 | OMIM:614376 | Short-Rib thoracic dysplasia 5 with or without polydactyly | . | | | 95 | | |