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:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040281 - Very frequent | | | 304 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | . | | | | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | HP:0040281 - Very frequent | | | 108 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 107 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 68 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | . | | | 31 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040281 - Very frequent | | | 221 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 1129 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 508 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 171 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0006785 | HP:0006785 | Limb-girdle muscular dystrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |