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:0002132 | HP:0002132 | Porencephalic cyst | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 116 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | COL4A2 CL E G H | 1284 | 2203 | OMIM:614483 | PORENCEPHALY 2; POREN2 | | | | 147 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | . | | | 71 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | | | | 5 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | SNRPB CL E G H | 6628 | 11153 | OMIM:117650 | Cerebrocostomandibular syndrome | . | | | 6 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | . | | | 31 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0002132 | HP:0002132 | Porencephalic cyst | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 1 | | |