Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | ABCC8 CL E G H | 6833 | 99885 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | GCK CL E G H | 2645 | 99885 | | | | ORPHA | 1 | | 762 | 4195 | 138079 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | HYMAI CL E G H | 57061 | 99886 | | | | ORPHA | 1 | | 17 | 5326 | 606546 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | INS CL E G H | 3630 | 99885 | | | | ORPHA | 1 | | 168 | 6081 | 176730 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | KCNJ11 CL E G H | 3767 | 99886 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | KCNJ11 CL E G H | 3767 | 99885 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | KIF21A CL E G H | 55605 | 135700 | Fibrosis of extraocular muscles, congenital, 1 | 135700 | C1851102 | OMIM | 1 | | 181 | 19349 | 608283 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | PDX1 CL E G H | 3651 | 99885 | | | | ORPHA | 1 | | 145 | 6107 | 600733 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | PHOX2A CL E G H | 401 | 602078 | Fibrosis of extraocular muscles, congenital, 2 | 602078 | C1865915 | OMIM | 1 | | 22 | 691 | 602753 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | PLAGL1 CL E G H | 5325 | 99886 | | | | ORPHA | 1 | | 32 | 9046 | 603044 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | RAD21 CL E G H | 5885 | 611376 | Mungan syndrome | 611376 | C1969653 | OMIM | 1 | | 293 | 9811 | 606462 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 104 | 18466 | 604123 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | STAT3 CL E G H | 6774 | 99885 | | | | ORPHA | 1 | | 505 | 11364 | 102582 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 247 | 20772 | 602661 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | ZFP57 CL E G H | 346171 | 99886 | | | | ORPHA | 1 | | 87 | 18791 | 612192 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | ABCC8 CL E G H | 6833 | 99886 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | ABCC8 CL E G H | 6833 | 99885 | | | | ORPHA | 1 | | 1569 | 59 | 600509 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | AEBP1 CL E G H | 165 | 618000 | EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 | 618000 | CN248508 | OMIM | 1 | | 230 | 303 | 602981 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | COL4A3BP CL E G H | 10087 | 616351 | Mental retardation, autosomal dominant 34 | 616351 | C4225156 | OMIM | 1 | | | 2205 | 604677 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | DGUOK CL E G H | 1716 | 329314 | | | | ORPHA | 1 | | 167 | 2858 | 601465 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | GCK CL E G H | 2645 | 99885 | | | | ORPHA | 1 | | 762 | 4195 | 138079 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | HYMAI CL E G H | 57061 | 99886 | | | | ORPHA | 1 | | 17 | 5326 | 606546 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | INS CL E G H | 3630 | 99885 | | | | ORPHA | 1 | | 168 | 6081 | 176730 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | KCNJ11 CL E G H | 3767 | 99886 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | KCNJ11 CL E G H | 3767 | 99885 | | | | ORPHA | 1 | | 380 | 6257 | 600937 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | KIF21A CL E G H | 55605 | 135700 | Fibrosis of extraocular muscles, congenital, 1 | 135700 | C1851102 | OMIM | 1 | | 181 | 19349 | 608283 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | PDX1 CL E G H | 3651 | 99885 | | | | ORPHA | 1 | | 145 | 6107 | 600733 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | PHOX2A CL E G H | 401 | 602078 | Fibrosis of extraocular muscles, congenital, 2 | 602078 | C1865915 | OMIM | 1 | | 22 | 691 | 602753 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | PLAGL1 CL E G H | 5325 | 99886 | | | | ORPHA | 1 | | 32 | 9046 | 603044 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | RAD21 CL E G H | 5885 | 611376 | Mungan syndrome | 611376 | C1969653 | OMIM | 1 | | 293 | 9811 | 606462 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | RNASEH1 CL E G H | 246243 | 329336 | | | | ORPHA | 1 | | 104 | 18466 | 604123 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | RRM2B CL E G H | 50484 | 329336 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | STAT3 CL E G H | 6774 | 99885 | | | | ORPHA | 1 | | 505 | 11364 | 102582 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 247 | 20772 | 602661 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | ZFP57 CL E G H | 346171 | 99886 | | | | ORPHA | 1 | | 87 | 18791 | 612192 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | ABCC8 CL E G H | 6833 | 79134 | | | | ORPHA | 0 | | 1569 | 59 | 600509 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | KCNJ11 CL E G H | 3767 | 79134 | | | | ORPHA | 0 | | 380 | 6257 | 600937 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | PAH CL E G H | 5053 | 2209 | Exsudative retinopathy familial, autosomal recessive | | | ORPHA | 0 | | 1316 | 8582 | 612349 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 4152 | 9069 | 601282 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 795 | 29203 | 613577 |
HP:0001488 | HP:0001488 | Bilateral ptosis | 0 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | ABCC8 CL E G H | 6833 | 79134 | | | | ORPHA | 0 | | 1569 | 59 | 600509 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | KCNJ11 CL E G H | 3767 | 79134 | | | | ORPHA | 0 | | 380 | 6257 | 600937 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | PAH CL E G H | 5053 | 2209 | Exsudative retinopathy familial, autosomal recessive | | | ORPHA | 0 | | 1316 | 8582 | 612349 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | PLEC CL E G H | 5339 | 254361 | | | | ORPHA | 0 | | 4152 | 9069 | 601282 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | TBC1D24 CL E G H | 57465 | 79500 | | | | ORPHA | 0 | | 795 | 29203 | 613577 |
HP:0001488 | HP:0007911 | Congenital bilateral ptosis | 1 | TK2 CL E G H | 7084 | 254875 | | | | ORPHA | 0 | | 356 | 11831 | 188250 |