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:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | ARSG CL E G H | 22901 | 24102 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 636 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | CEP78 CL E G H | 84131 | 25740 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 9 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 15 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | 60 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | | | | 46 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | COL4A6 CL E G H | 1288 | 2208 | OMIM:300914 | Deafness, X-linked 6 | | | | 18 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 33 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | | | | 135 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | | | | 135 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | | | | 33 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | | | | 33 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | GREB1L CL E G H | 80000 | 31042 | OMIM:619274 | DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80 | | | | | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | | | | 121 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | | | | 121 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 516 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040282 - Frequent | | | 39 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 352 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | | | | 50 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | | | | 10 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | | | | 274 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | | | | 274 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:231183 | Usher syndrome type 3 | HP:0040281 - Very frequent | | | | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 173 | | |
HP:0000375 | HP:0000375 | Abnormal cochlea morphology | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040281 - Very frequent | | | 78 | | |
HP:0000375 | HP:0005102 | Cochlear degeneration | 1 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | . | | | 46 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | COL4A6 CL E G H | 1288 | 2208 | OMIM:300914 | Deafness, X-linked 6 | . | | | 18 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | | | | 13 | | |
HP:0000375 | HP:0011388 | Enlarged cochlear aqueduct | 1 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | | | | 135 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | | | | 135 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | . | | | 33 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | | | | 33 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | GREB1L CL E G H | 80000 | 31042 | OMIM:619274 | DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80 | | | | | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | | | | 121 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | . | | | 121 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000375 | HP:0005102 | Cochlear degeneration | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | | | | 50 | | |
HP:0000375 | HP:0011388 | Enlarged cochlear aqueduct | 1 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000375 | HP:0011388 | Enlarged cochlear aqueduct | 1 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | | | | 10 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | . | | | 274 | | |
HP:0000375 | HP:0011395 | Aplasia/Hypoplasia of the cochlea | 1 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | | | | 274 | | |
HP:0000375 | HP:0008554 | Cochlear malformation | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0000375 | HP:0011373 | Incomplete partition of the cochlea | 2 | COL4A6 CL E G H | 1288 | 2208 | OMIM:300914 | Deafness, X-linked 6 | | | | 18 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | DDX11 CL E G H | 1663 | 2736 | OMIM:613398 | Warsaw breakage syndrome | . | | | 13 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000375 | HP:0011373 | Incomplete partition of the cochlea | 2 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 135 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | EYA1 CL E G H | 2138 | 3519 | OMIM:166780 | Otofaciocervical syndrome | | | | 135 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | FOXI1 CL E G H | 2299 | 3815 | ORPHA:705 | Pendred syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000375 | HP:0011375 | Cochlear aplasia | 2 | GREB1L CL E G H | 80000 | 31042 | OMIM:619274 | DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80 | | | | | | |
HP:0000375 | HP:0011373 | Incomplete partition of the cochlea | 2 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:705 | Pendred syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0000375 | HP:0011373 | Incomplete partition of the cochlea | 2 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0000375 | HP:0011373 | Incomplete partition of the cochlea | 2 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | | | | 50 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000375 | HP:0008586 | Hypoplasia of the cochlea | 2 | SLC26A4 CL E G H | 5172 | 8818 | ORPHA:705 | Pendred syndrome | HP:0040281 - Very frequent | | | 274 | | |
HP:0000375 | HP:0011374 | Incomplete partition of the cochlea type I | 3 | CL E G H | | | | | | | | | | |
HP:0000375 | HP:0000376 | Incomplete partition of the cochlea type II | 3 | EYA1 CL E G H | 2138 | 3519 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 135 | | |
HP:0000375 | HP:0000376 | Incomplete partition of the cochlea type II | 3 | HAAO CL E G H | 23498 | 4796 | OMIM:617660 | Vertebral, cardiac, renal, and limb defects syndrome 1 | | | | 2 | | |
HP:0000375 | HP:0000376 | Incomplete partition of the cochlea type II | 3 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0000375 | HP:0000376 | Incomplete partition of the cochlea type II | 3 | SIX1 CL E G H | 6495 | 10887 | OMIM:113650 | Branchiootorenal syndrome 1 | . | | | 50 | | |