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:0000616 | HP:0000616 | Miosis | 0 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 596 | 568 | 607246 |
HP:0000616 | HP:0000616 | Miosis | 0 | CHRDL1 CL E G H | 91851 | 309300 | Megalocornea | 309300 | C0344530 | OMIM | 1 | | 200 | 29861 | 300350 |
HP:0000616 | HP:0000616 | Miosis | 0 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 365 | 2719 | 107930 |
HP:0000616 | HP:0000616 | Miosis | 0 | HHAT CL E G H | 55733 | 1422 | Cohen Hayden syndrome | | | ORPHA | 1 | | 78 | 18270 | 605743 |
HP:0000616 | HP:0000616 | Miosis | 0 | ORAI1 CL E G H | 84876 | 3204 | | | | ORPHA | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0000616 | Miosis | 0 | ORAI1 CL E G H | 84876 | 615883 | Myopathy, tubular aggregate, 2 | 615883 | C4014557 | OMIM | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0000616 | Miosis | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0000616 | Miosis | 0 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0000616 | Miosis | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0000616 | Miosis | 0 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0000616 | Miosis | 0 | SIX6 CL E G H | 4990 | 212550 | Cataract, microphthalmia and nystagmus | 212550 | C1859311 | OMIM | 1 | | 78 | 10892 | 606326 |
HP:0000616 | HP:0000616 | Miosis | 0 | STIM1 CL E G H | 6786 | 3204 | | | | ORPHA | 1 | | 522 | 11386 | 605921 |
HP:0000616 | HP:0000616 | Miosis | 0 | STIM1 CL E G H | 6786 | 185070 | Stormorken syndrome | 185070 | C1861451 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 596 | 568 | 607246 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 596 | 568 | 607246 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | CHRDL1 CL E G H | 91851 | 309300 | Megalocornea | 309300 | C0344530 | OMIM | 1 | | 200 | 29861 | 300350 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | CHRDL1 CL E G H | 91851 | 309300 | Megalocornea | 309300 | C0344530 | OMIM | 1 | | 200 | 29861 | 300350 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 365 | 2719 | 107930 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 365 | 2719 | 107930 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | HHAT CL E G H | 55733 | 1422 | Cohen Hayden syndrome | | | ORPHA | 1 | | 78 | 18270 | 605743 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | HHAT CL E G H | 55733 | 1422 | Cohen Hayden syndrome | | | ORPHA | 1 | | 78 | 18270 | 605743 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | ORAI1 CL E G H | 84876 | 3204 | | | | ORPHA | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | ORAI1 CL E G H | 84876 | 3204 | | | | ORPHA | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | ORAI1 CL E G H | 84876 | 615883 | Myopathy, tubular aggregate, 2 | 615883 | C4014557 | OMIM | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | ORAI1 CL E G H | 84876 | 615883 | Myopathy, tubular aggregate, 2 | 615883 | C4014557 | OMIM | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | SIX6 CL E G H | 4990 | 212550 | Cataract, microphthalmia and nystagmus | 212550 | C1859311 | OMIM | 1 | | 78 | 10892 | 606326 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | SIX6 CL E G H | 4990 | 212550 | Cataract, microphthalmia and nystagmus | 212550 | C1859311 | OMIM | 1 | | 78 | 10892 | 606326 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | STIM1 CL E G H | 6786 | 3204 | | | | ORPHA | 1 | | 522 | 11386 | 605921 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | STIM1 CL E G H | 6786 | 3204 | | | | ORPHA | 1 | | 522 | 11386 | 605921 |
HP:0000616 | HP:0002277 | Horner syndrome | 1 | STIM1 CL E G H | 6786 | 185070 | Stormorken syndrome | 185070 | C1861451 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0000616 | HP:0007728 | Congenital miosis | 1 | STIM1 CL E G H | 6786 | 185070 | Stormorken syndrome | 185070 | C1861451 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | AP3D1 CL E G H | 8943 | 284804 | | | | ORPHA | 1 | | 596 | 568 | 607246 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | CHRDL1 CL E G H | 91851 | 309300 | Megalocornea | 309300 | C0344530 | OMIM | 1 | | 200 | 29861 | 300350 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | DDC CL E G H | 1644 | 608643 | Deficiency of aromatic-L-amino-acid decarboxylase | 608643 | C1291564 | OMIM | 1 | | 365 | 2719 | 107930 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | HHAT CL E G H | 55733 | 1422 | Cohen Hayden syndrome | | | ORPHA | 1 | | 78 | 18270 | 605743 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | ORAI1 CL E G H | 84876 | 3204 | | | | ORPHA | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | ORAI1 CL E G H | 84876 | 615883 | Myopathy, tubular aggregate, 2 | 615883 | C4014557 | OMIM | 1 | | 255 | 25896 | 610277 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 441 | 8860 | 601757 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 303 | 8940 | 602026 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | SIX6 CL E G H | 4990 | 212550 | Cataract, microphthalmia and nystagmus | 212550 | C1859311 | OMIM | 1 | | 78 | 10892 | 606326 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | STIM1 CL E G H | 6786 | 3204 | | | | ORPHA | 1 | | 522 | 11386 | 605921 |
HP:0000616 | HP:0006837 | Congenital Horner syndrome | 2 | STIM1 CL E G H | 6786 | 185070 | Stormorken syndrome | 185070 | C1861451 | OMIM | 1 | | 522 | 11386 | 605921 |
HPO disease - gene - phenotype less frequent non-typical associations: |