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:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 42 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040281 - Very frequent | | | 434 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 126 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 140 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240112 | Progressive supranuclear palsy-progressive non-fluent aphasia syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 241 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 31 | | |
HP:0030391 | HP:0030391 | Spoken word recognition deficit | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 63 | | |