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:0011330 | HP:0011330 | Metopic synostosis | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:190440 | Trigonocephaly 1 | | | | 172 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | FREM1 CL E G H | 158326 | 23399 | OMIM:614485 | Trigonocephaly 2 | . | | | 198 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:175700 | Greig cephalopolysyndactyly syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | IL11RA CL E G H | 3590 | 5967 | OMIM:614188 | Craniosynostosis and dental anomalies | | | | 8 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | SIX2 CL E G H | 10736 | 10888 | ORPHA:488437 | SIX2-related frontonasal dysplasia | HP:0040282 - Frequent | | | 2 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0011330 | HP:0011330 | Metopic synostosis | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |