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:0008554 | HP:0008554 | Cochlear malformation | 0 | COL4A6 CL E G H | 1288 | 2208 | OMIM:300914 | Deafness, X-linked 6 | . | | | 18 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | . | | | 33 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | . | | | 121 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | . | | | 274 | | |
HP:0008554 | HP:0008554 | Cochlear malformation | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0008554 | HP:0011373 | Incomplete partition of the cochlea | 1 | COL4A6 CL E G H | 1288 | 2208 | OMIM:300914 | Deafness, X-linked 6 | | | | 18 | | |
HP:0008554 | HP:0011373 | Incomplete partition of the cochlea | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0008554 | HP:0011373 | Incomplete partition of the cochlea | 1 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0008554 | HP:0011373 | Incomplete partition of the cochlea | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0008554 | HP:0011373 | Incomplete partition of the cochlea | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0008554 | HP:0011374 | Incomplete partition of the cochlea type I | 2 | CL E G H | | | | | | | | | | |
HP:0008554 | HP:0000376 | Incomplete partition of the cochlea type II | 2 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0008554 | HP:0000376 | Incomplete partition of the cochlea type II | 2 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0008554 | HP:0000376 | Incomplete partition of the cochlea type II | 2 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0008554 | HP:0000376 | Incomplete partition of the cochlea type II | 2 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |