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:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 255 | 343 | 180960 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | COL5A1 CL E G H | 1289 | 130000 | Ehlers-Danlos syndrome, classic type | 130000 | C0268335 | OMIM | 1 | | 2909 | 2209 | 120215 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 100 | 25613 | 616120 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 303 | 21056 | 615532 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 898 | 6143 | 600536 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 1 | | 1819 | 6697 | 603506 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SON CL E G H | 6651 | 500150 | | | | ORPHA | 1 | | 1031 | 11183 | 182465 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | SUOX CL E G H | 6821 | 272300 | Sulfite oxidase deficiency | 272300 | C0268624 | OMIM | 1 | | 353 | 11460 | 606887 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRPS1 CL E G H | 7227 | 190350 | Trichorhinophalangeal dysplasia type I | 190350 | C0432233 | OMIM | 1 | | 542 | 12340 | 604386 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | UGT1A1 CL E G H | 54658 | 79234 | | | | ORPHA | 1 | | 315 | 12530 | 191740 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 1122 | 225 | 146920 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | AHCY CL E G H | 191 | 88618 | | | | ORPHA | 1 | | 255 | 343 | 180960 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ATP6V0A2 CL E G H | 23545 | 357074 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ATP6V0A2 CL E G H | 23545 | 2834 | | | | ORPHA | 1 | | 610 | 18481 | 611716 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ATP6V1A CL E G H | 523 | 357074 | | | | ORPHA | 1 | | 229 | 851 | 607027 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ATP6V1E1 CL E G H | 529 | 357074 | | | | ORPHA | 1 | | 196 | 857 | 108746 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ATRX CL E G H | 546 | 301040 | ATR-X syndrome | 301040 | C1845055 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ATRX CL E G H | 546 | 309580 | Mental retardation-hypotonic facies syndrome X-linked, 1 | 309580 | C0796003 | OMIM | 1 | | 1925 | 886 | 300032 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | COL5A1 CL E G H | 1289 | 130000 | Ehlers-Danlos syndrome, classic type | 130000 | C0268335 | OMIM | 1 | | 2909 | 2209 | 120215 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 100 | 25613 | 616120 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 303 | 21056 | 615532 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | FGFR3 CL E G H | 2261 | 100800 | Achondroplasia | 100800 | C0001080 | OMIM | 1 | | 916 | 3690 | 134934 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 588 | 4136 | 601240 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ITGA7 CL E G H | 3679 | 613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | 613204 | C2750786 | OMIM | 1 | | 898 | 6143 | 600536 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | LRP5 CL E G H | 4041 | 2788 | | | | ORPHA | 1 | | 1819 | 6697 | 603506 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1925 | 6990 | 300005 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 161 | 8066 | 605815 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SON CL E G H | 6651 | 500150 | | | | ORPHA | 1 | | 1031 | 11183 | 182465 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | SUOX CL E G H | 6821 | 272300 | Sulfite oxidase deficiency | 272300 | C0268624 | OMIM | 1 | | 353 | 11460 | 606887 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 1 | | 893 | 29203 | 613577 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TRPS1 CL E G H | 7227 | 190350 | Trichorhinophalangeal dysplasia type I | 190350 | C0432233 | OMIM | 1 | | 542 | 12340 | 604386 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | UGT1A1 CL E G H | 54658 | 79234 | | | | ORPHA | 1 | | 315 | 12530 | 191740 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | ATP6V1B2 CL E G H | 526 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 167 | 854 | 606939 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 0 | | 382 | 4396 | 139380 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | KCNH1 CL E G H | 3756 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 566 | 6250 | 603305 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | NEK1 CL E G H | 4750 | 2751 | Hunter Carpenter Macdonald syndrome | | | ORPHA | 0 | | 679 | 7744 | 604588 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRAPPC11 CL E G H | 60684 | 369847 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0008947 | HP:0008947 | Infantile muscular hypotonia | 0 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | ATP6V1B2 CL E G H | 526 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 167 | 854 | 606939 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | GNB1 CL E G H | 2782 | 488613 | | | | ORPHA | 0 | | 382 | 4396 | 139380 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | KCNH1 CL E G H | 3756 | 3473 | Meningoencephalocele | | | ORPHA | 0 | | 566 | 6250 | 603305 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | NEK1 CL E G H | 4750 | 2751 | Hunter Carpenter Macdonald syndrome | | | ORPHA | 0 | | 679 | 7744 | 604588 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TRAPPC11 CL E G H | 60684 | 369847 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |
HP:0008947 | HP:0009062 | Infantile axial hypotonia | 1 | TRAPPC11 CL E G H | 60684 | 369840 | | | | ORPHA | 0 | | 983 | 25751 | 614138 |