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:0000585 | HP:0000585 | Band keratopathy | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | . | | | 187 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | . | | | 89 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0000585 | HP:0000585 | Band keratopathy | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |