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:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | ADCY6 CL E G H | 112 | 237 | OMIM:616287 | Lethal congenital contracture syndrome 8 | . | | | 2 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | ARHGAP29 CL E G H | 9411 | 30207 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 6 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040282 - Frequent | | | 48 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 239 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 150 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 38 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 449 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1003 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | DLG1 CL E G H | 1739 | 2900 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | DLX4 CL E G H | 1748 | 2917 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 1 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | . | | | 332 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | GRHL3 CL E G H | 57822 | 25839 | ORPHA:99772 | Cleft velum | HP:0040282 - Frequent | | | 12 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:208447 | Bilateral generalized polymicrogyria | HP:0040283 - Occasional | | | 108 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 99 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 12 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 4 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 337 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 66 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040282 - Frequent | | | 63 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:480907 | X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | . | | | 12 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:199306 | Cleft lip/palate | HP:0040282 - Frequent | | | 140 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 3 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 84 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 57 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040282 - Frequent | | | 102 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | UBB CL E G H | 7314 | 12463 | ORPHA:99772 | Cleft velum | HP:0040282 - Frequent | | | | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0200136 | HP:0200136 | Oral-pharyngeal dysphagia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |