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:0007109 | HP:0007109 | Periventricular cysts | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 206 | 2309 | 605032 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 352 | 2494 | 602618 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 396 | 3693 | 605830 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 367 | 6556 | 604407 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 538 | 12766 | 602952 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 643 | 8108 | 300535 |
HP:0007109 | HP:0007109 | Periventricular cysts | 0 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | | 12764 | 0 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 206 | 2309 | 605032 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 352 | 2494 | 602618 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 396 | 3693 | 605830 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | GLUL CL E G H | 2752 | 610015 | Glutamine deficiency, congenital | 610015 | C1864910 | OMIM | 1 | | 256 | 4341 | 138290 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 367 | 6556 | 604407 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 113 | 37216 | 617659 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 538 | 12766 | 602952 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 643 | 8108 | 300535 |
HP:0007109 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | | 12764 | 0 |
HPO disease - gene - phenotype less frequent non-typical associations: |