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:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | | | | 89 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | | | | 356 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | | | | 39 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | | | | 8 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0008011 | HP:0008011 | Peripheral opacification of the cornea | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 9 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | . | | | 356 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040282 - Frequent | | | 39 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 1 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 98 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | . | | | 8 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 2157 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 2 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0008011 | HP:0001084 | Corneal arcus | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |