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:0005343 | HP:0005343 | Hypoplasia of the bladder | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0005343 | HP:0005343 | Hypoplasia of the bladder | 0 | GRIP1 CL E G H | 23426 | 18708 | OMIM:617667 | Fraser syndrome 3 | . | | | 80 | | |
HP:0005343 | HP:0005343 | Hypoplasia of the bladder | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0005343 | HP:0005343 | Hypoplasia of the bladder | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0005343 | HP:0005343 | Hypoplasia of the bladder | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0005343 | HP:0005343 | Hypoplasia of the bladder | 0 | WNT4 CL E G H | 54361 | 12783 | OMIM:611812 | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs | . | | | 4 | | |
HP:0005343 | HP:0005343 | Hypoplasia of the bladder | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:139466 | SERKAL syndrome | HP:0040282 - Frequent | | | 4 | | |