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:0003657 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0003657 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040281 - Very frequent | | | 111 | | |
HP:0003657 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | | | | 159 | | |
HP:0003657 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 0 | DNAJC5 CL E G H | 80331 | 16235 | OMIM:162350 | Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant | . | | | 155 | | |
HP:0003657 | HP:0003657 | Granular osmiophilic deposits (GROD) in cells | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:125310 | Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy | | | | 144 | | |