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:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99771 | Bifid uvula | HP:0040283 - Occasional | | | 12 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040282 - Frequent | | | 101 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:69085 | Limb-mammary syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0011819 | HP:0011819 | Submucous cleft soft palate | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99771 | Bifid uvula | HP:0040283 - Occasional | | | | | |