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:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | . | | | 33 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | . | | | 60 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | HP:0040283 - Occasional | | | 55 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040281 - Very frequent | | | 20 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040281 - Very frequent | | | 6 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040281 - Very frequent | | | 3 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040281 - Very frequent | | | 2 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0200149 | HP:0200149 | CSF lymphocytic pleiocytosis | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040281 - Very frequent | | | 5 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0200149 | HP:0009704 | Chronic CSF lymphocytosis | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |