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:0007291 | HP:0007291 | Posterior fossa cyst | 0 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 738 | 23 | 137150 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 738 | 23 | 137150 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 738 | 23 | 137150 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 1074 | 26193 | 611654 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | FGFR2 CL E G H | 2263 | 101200 | Acrocephalosyndactyly type I | 101200 | C0001193 | OMIM | 1 | | 685 | 3689 | 176943 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 914 | 3622 | 607440 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 906 | 9202 | 607423 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | VSX1 CL E G H | 30813 | 614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | 614195 | C3280099 | OMIM | 1 | | 130 | 12723 | 605020 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | WASHC5 CL E G H | 9897 | 220210 | Dandy-Walker like malformation with atrioventricular septal defect | 220210 | C0796137 | OMIM | 1 | | 638 | 28984 | 610657 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007291 | HP:0007291 | Posterior fossa cyst | 0 | GDF6 CL E G H | 392255 | 118100 | Klippel-Feil syndrome 1, autosomal dominant | 118100 | C1861689 | OMIM | 0 | | 406 | 4221 | 601147 |
HP:0007291 | HP:0012487 | Cerebellopontine angle arachnoid cyst | 1 | GDF6 CL E G H | 392255 | 118100 | Klippel-Feil syndrome 1, autosomal dominant | 118100 | C1861689 | OMIM | 0 | | 406 | 4221 | 601147 |
HP:0007291 | HP:0000933 | Posterior fossa cyst at the fourth ventricle | 1 | GDF6 CL E G H | 392255 | 118100 | Klippel-Feil syndrome 1, autosomal dominant | 118100 | C1861689 | OMIM | 0 | | 406 | 4221 | 601147 |