Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ABAT CL E G H | 18 | 613163 | Gamma-aminobutyric acid transaminase deficiency | 613163 | C0342708 | OMIM | 1 | | 738 | 23 | 137150 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ACTA1 CL E G H | 58 | 171433 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ACTA1 CL E G H | 58 | 171430 | | | | ORPHA | 1 | | 506 | 129 | 102610 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | AIFM1 CL E G H | 9131 | 238329 | | | | ORPHA | 1 | | 575 | 8768 | 300169 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | B3GALNT2 CL E G H | 148789 | 615181 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 615181 | C3554638 | OMIM | 1 | | 587 | 28596 | 610194 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | B4GAT1 CL E G H | 11041 | 615287 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 615287 | C3809042 | OMIM | 1 | | 205 | 15685 | 605517 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 740 | 17208 | 609797 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | BMP4 CL E G H | 652 | 607932 | Microphthalmia syndromic 6 | 607932 | C1864689 | OMIM | 1 | | 197 | 1071 | 112262 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 825 | 25695 | 612800 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | CCDC174 CL E G H | 51244 | 616816 | Hypotonia, infantile, with psychomotor retardation | 616816 | C4225196 | OMIM | 1 | | 87 | 28033 | 616735 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | CCDC88A CL E G H | 55704 | 617507 | PEHO-like syndrome | 617507 | C1850056 | OMIM | 1 | | 838 | 25523 | 609736 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | DPM2 CL E G H | 8818 | 615042 | Congenital disorder of glycosylation type 1u | 615042 | C3554385 | OMIM | 1 | | 156 | 3006 | 603564 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | FKBP14 CL E G H | 55033 | 300179 | | | | ORPHA | 1 | | 220 | 18625 | 614505 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | FKRP CL E G H | 79147 | 613153 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 613153 | C3150413 | OMIM | 1 | | 950 | 17997 | 606596 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 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:0006829 | HP:0006829 | Severe muscular hypotonia | 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:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 428 | 4193 | 600225 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | GPT2 CL E G H | 84706 | 477673 | ANO5-Related Disorders | | CN239193 | ORPHA | 1 | | 109 | 18062 | 138210 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | IBA57 CL E G H | 200205 | 615330 | Multiple mitochondrial dysfunctions syndrome 3 | 615330 | C3809165 | OMIM | 1 | | 271 | 27302 | 615316 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ITPA CL E G H | 3704 | 616647 | Epileptic encephalopathy, early infantile, 35 | 616647 | C4225256 | OMIM | 1 | | 319 | 6176 | 147520 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 2622 | 888 | 601255 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | KLHL40 CL E G H | 131377 | 171430 | | | | ORPHA | 1 | | 466 | 30372 | 615340 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | KLHL41 CL E G H | 10324 | 171430 | | | | ORPHA | 1 | | 294 | 16905 | 607701 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | KLHL41 CL E G H | 10324 | 171433 | | | | ORPHA | 1 | | 294 | 16905 | 607701 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | LARGE1 CL E G H | 9215 | 613154 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | 613154 | C3150414 | OMIM | 1 | | 786 | 6511 | 603590 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 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:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | LMNA CL E G H | 4000 | 613205 | Congenital muscular dystrophy, LMNA-related | 613205 | C2750785 | OMIM | 1 | | 1814 | 6636 | 150330 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | LMOD3 CL E G H | 56203 | 171430 | | | | ORPHA | 1 | | 392 | 6649 | 616112 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 392 | 6649 | 616112 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 155 | 24858 | 614785 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 607 | 7225 | 159440 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 807 | 7448 | 300415 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 86 | 33778 | 615345 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | NEB CL E G H | 4703 | 171430 | | | | ORPHA | 1 | | 8530 | 7720 | 161650 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | NEB CL E G H | 4703 | 171433 | | | | ORPHA | 1 | | 8530 | 7720 | 161650 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX1 CL E G H | 5189 | 912 | | | | ORPHA | 1 | | 1537 | 8850 | 602136 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX10 CL E G H | 5192 | 912 | | | | ORPHA | 1 | | 803 | 8851 | 602859 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX11B CL E G H | 8799 | 912 | | | | ORPHA | 1 | | 415 | 8853 | 603867 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX12 CL E G H | 5193 | 912 | | | | ORPHA | 1 | | 459 | 8854 | 601758 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX13 CL E G H | 5194 | 912 | | | | ORPHA | 1 | | 497 | 8855 | 601789 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX13 CL E G H | 5194 | 614883 | Peroxisome biogenesis disorder 11A | 614883 | C3554000 | OMIM | 1 | | 497 | 8855 | 601789 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX14 CL E G H | 5195 | 912 | | | | ORPHA | 1 | | 474 | 8856 | 601791 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX16 CL E G H | 9409 | 912 | | | | ORPHA | 1 | | 470 | 8857 | 603360 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX19 CL E G H | 5824 | 912 | | | | ORPHA | 1 | | 379 | 9713 | 600279 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX2 CL E G H | 5828 | 912 | | | | ORPHA | 1 | | 463 | 9717 | 170993 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX26 CL E G H | 55670 | 912 | | | | ORPHA | 1 | | 522 | 22965 | 608666 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX26 CL E G H | 55670 | 614872 | Peroxisome biogenesis disorder 7A | 614872 | C3539168 | OMIM | 1 | | 522 | 22965 | 608666 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX3 CL E G H | 8504 | 912 | | | | ORPHA | 1 | | 358 | 8858 | 603164 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX5 CL E G H | 5830 | 912 | | | | ORPHA | 1 | | 858 | 9719 | 600414 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PEX6 CL E G H | 5190 | 912 | | | | ORPHA | 1 | | 1458 | 8859 | 601498 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PIGG CL E G H | 54872 | 616917 | Mental retardation, autosomal recessive 53 | 616917 | C4310794 | OMIM | 1 | | 1057 | 25985 | 616918 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 1 | | 1010 | 8967 | 606097 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 761 | 23166 | 610316 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | POMGNT1 CL E G H | 55624 | 253280 | Muscle eye brain disease | 253280 | C0457133 | OMIM | 1 | | 1174 | 19139 | 606822 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 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:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | POMT2 CL E G H | 29954 | 613150 | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 | 613150 | C3150411 | OMIM | 1 | | 936 | 19743 | 607439 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 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:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | RMND1 CL E G H | 55005 | 614922 | Combined oxidative phosphorylation deficiency 11 | 614922 | C3554067 | OMIM | 1 | | 262 | 21176 | 614917 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | SLC25A1 CL E G H | 6576 | 615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | 615182 | C2746066 | OMIM | 1 | | 568 | 10979 | 190315 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | SLC25A12 CL E G H | 8604 | 612949 | Hypomyelination, global cerebral | 612949 | C2751855 | OMIM | 1 | | 451 | 10982 | 603667 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 1482 | 16901 | 615950 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 321 | 14896 | 606214 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 893 | 29203 | 613577 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | TBCD CL E G H | 6904 | 617193 | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 617193 | C4310671 | OMIM | 1 | | 705 | 11581 | 604649 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | TBCE CL E G H | 6905 | 617207 | Encephalopathy, progressive, with amyotrophy and optic atrophy | 617207 | C4310667 | OMIM | 1 | | 456 | 11582 | 604934 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | TPM3 CL E G H | 7170 | 171433 | | | | ORPHA | 1 | | 343 | 12012 | 191030 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | TRIP4 CL E G H | 9325 | 617066 | Muscular dystrophy, congenital, davignon-chauveau type | 617066 | C4310736 | OMIM | 1 | | 212 | 12310 | 604501 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 631 | 12469 | 314370 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ZDHHC15 CL E G H | 158866 | 300577 | Mental retardation 91, X-linked | 300577 | C1845142 | OMIM | 1 | | 190 | 20342 | 300576 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 136 | 12309 | 604500 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ZNHIT3 CL E G H | 9326 | 260565 | PEHO syndrome | 260565 | C1850055 | OMIM | 1 | | 136 | 12309 | 604500 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | ASCC1 CL E G H | 51008 | 616867 | Spinal muscular atrophy with congenital bone fractures 2 | 616867 | C4225176 | OMIM | 0 | | 165 | 24268 | 614215 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | MPLKIP CL E G H | 136647 | 234050 | Trichothiodystrophy, nonphotosensitive 1 | 234050 | C1961117 | OMIM | 0 | | 153 | 16002 | 609188 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | TBCK CL E G H | 93627 | 616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 616900 | C4225161 | OMIM | 0 | | 722 | 28261 | 616899 |
HP:0006829 | HP:0006829 | Severe muscular hypotonia | 0 | TRIP4 CL E G H | 9325 | 616866 | Spinal muscular atrophy with congenital bone fractures 1 | 616866 | C4225177 | OMIM | 0 | | 212 | 12310 | 604501 |