Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005580 | HP:0005580 | Duplication of renal pelvis | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0005580 | HP:0005580 | Duplication of renal pelvis | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0005580 | HP:0005580 | Duplication of renal pelvis | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0005580 | HP:0005580 | Duplication of renal pelvis | 0 | SLC6A17 CL E G H | 388662 | 31399 | ORPHA:457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0005580 | HP:0005580 | Duplication of renal pelvis | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040284 - Very rare | | | 362 | | |