Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 404 | 18518 | 606034 |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 307 | 24116 | 610330 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | SAMHD1 CL E G H | 25939 | 612952 | Aicardi Goutieres syndrome 5 | 612952 | C2749659 | OMIM | 0 | | 746 | 15925 | 606754 |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | SAMHD1 CL E G H | 25939 | 612952 | Aicardi Goutieres syndrome 5 | 612952 | C2749659 | OMIM | 0 | | 746 | 15925 | 606754 |