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:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | | | | 110 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040281 - Very frequent | | | 740 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0100669 | HP:0100669 | Abnormal pigmentation of the oral mucosa | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |
HP:0100669 | HP:0032452 | Oral melanoacanthoma | 1 | CL E G H | | | | | | | | | | |
HP:0100669 | HP:0033026 | White oral mucosal macule | 1 | ABCC6 CL E G H | 368 | 57 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 415 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040282 - Frequent | | | 135 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0100669 | HP:0012788 | Reticulate pigmentation of oral mucosa | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | . | | | 110 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0100669 | HP:0032451 | Oral melanotic macule | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0100669 | HP:0010284 | Intra-oral hyperpigmentation | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0100669 | HP:0033026 | White oral mucosal macule | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 14 | | |
HP:0100669 | HP:0033026 | White oral mucosal macule | 1 | XYLT2 CL E G H | 64132 | 15517 | OMIM:264800 | PSEUDOXANTHOMA ELASTICUM; PXE | | | | 5 | | |