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:0012330 | HP:0012330 | Pyelonephritis | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | ALG5 CL E G H | 29880 | 20266 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 93 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | BICC1 CL E G H | 80114 | 19351 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 5 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040283 - Occasional | | | 22 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | DNAJB11 CL E G H | 51726 | 14889 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | 45 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | GANAB CL E G H | 23193 | 4138 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 6 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | HOXA13 CL E G H | 3209 | 5102 | OMIM:140000 | Hand-Foot-Genital syndrome | . | | | 11 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 148 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040283 - Occasional | | | | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619351 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2 | | | | 418 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | PKD1 CL E G H | 5310 | 9008 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 342 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | PKD2 CL E G H | 5311 | 9009 | ORPHA:730 | Autosomal dominant polycystic kidney disease | HP:0040283 - Occasional | | | 106 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0012330 | HP:0012330 | Pyelonephritis | 0 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | . | | | 79 | | |
HP:0012330 | HP:0033761 | Xanthogranulomatous pyelonephritis | 1 | CL E G H | | | | | | | | | | |
HP:0012330 | HP:0012787 | Recurrent pyelonephritis | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |