Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 157 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | 157 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | 184 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 34 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | . | | | 127 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040281 - Very frequent | | | 411 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040281 - Very frequent | | | 1269 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 180 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | . | | | 180 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 18 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 213 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040281 - Very frequent | | | 213 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 221 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040281 - Very frequent | | | 144 | | |
HP:0003741 | HP:0003741 | Congenital muscular dystrophy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040281 - Very frequent | | | 7128 | | |