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:0002036 | HP:0002036 | Hiatus hernia | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:601162 | Spastic paraplegia 9A, autosomal dominant | . | | | 89 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:619329 | FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF | | | | 660 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | GLIS3 CL E G H | 169792 | 28510 | OMIM:610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | HP:0040283 - Occasional | | | 143 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 46 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | | | | 46 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 18 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | LAGE3 CL E G H | 8270 | 26058 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:619350 | VISCERAL MYOPATHY 2; VSCM2 | | | | 418 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | OSGEP CL E G H | 55644 | 18028 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | SLC2A10 CL E G H | 81031 | 13444 | OMIM:208050 | Arterial tortuosity syndrome | . | | | 178 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 81 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | SLC6A5 CL E G H | 9152 | 11051 | OMIM:614618 | Hyperekplexia 3 | | | | 81 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | TNXB CL E G H | 7148 | 11976 | OMIM:606408 | Ehlers-Danlos syndrome, classic-like | . | | | 134 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | TP53RK CL E G H | 112858 | 16197 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | TPRKB CL E G H | 51002 | 24259 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | WDR4 CL E G H | 10785 | 12756 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | WDR73 CL E G H | 84942 | 25928 | ORPHA:2065 | Galloway-Mowat syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0002036 | HP:0002036 | Hiatus hernia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |