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:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | FKRP CL E G H | 79147 | 607155 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 607155 | C1846672 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | HES7 CL E G H | 84667 | 613686 | Spondylocostal dysostosis 4, autosomal recessive | 613686 | C3150942 | OMIM | 1 | | 96 | 15977 | 608059 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | MT-TL1 CL E G H | 4567 | 663 | Maternally-inherited progressive external ophthalmoplegia | | CN924917 | ORPHA | 1 | | | 7490 | 590050 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | MT-TL2 CL E G H | 4568 | 663 | Maternally-inherited progressive external ophthalmoplegia | | CN924917 | ORPHA | 1 | | | 7491 | 590055 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | MT-TN CL E G H | 4570 | 663 | Maternally-inherited progressive external ophthalmoplegia | | CN924917 | ORPHA | 1 | | | 7493 | 590010 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | MT-TS1 CL E G H | 4574 | 663 | Maternally-inherited progressive external ophthalmoplegia | | CN924917 | ORPHA | 1 | | | 7497 | 590080 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | MYH7 CL E G H | 4625 | 324604 | | | | ORPHA | 1 | | 3612 | 7577 | 160760 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | SELENON CL E G H | 57190 | 324604 | | | | ORPHA | 1 | | 537 | 15999 | 606210 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | SLC12A6 CL E G H | 9990 | 218000 | Andermann syndrome | 218000 | C0795950 | OMIM | 1 | | 911 | 10914 | 604878 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | SLC34A2 CL E G H | 10568 | 265100 | PULMONARY ALVEOLAR MICROLITHIASIS | 265100 | C0155912 | OMIM | 1 | | 82 | 11020 | 604217 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | STAC3 CL E G H | 246329 | 255995 | Native American myopathy | 255995 | C1850625 | OMIM | 1 | | 188 | 28423 | 615521 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | TTN CL E G H | 7273 | 178464 | | | | ORPHA | 1 | | 22859 | 12403 | 188840 |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | TTN CL E G H | 7273 | 324604 | | | | ORPHA | 1 | | 22859 | 12403 | 188840 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002111 | HP:0002111 | obsolete Restrictive deficit on pulmonary function testing | 0 | MESP2 CL E G H | 145873 | 608681 | Spondylocostal dysostosis 2 | 608681 | C1837549 | OMIM | 0 | | 337 | 29659 | 605195 |