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:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | HP:0040281 - Very frequent | | | 12 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | HP:0040281 - Very frequent | | | 175 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0011324 | HP:0011324 | Multiple suture craniosynostosis | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0011324 | HP:0011325 | Pansynostosis | 1 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | HP:0040283 - Occasional | | | 12 | | |