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:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | ADCY1 CL E G H | 107 | 232 | OMIM:610154 | Deafness, autosomal recessive 44 | | | | 2 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | ATP2B2 CL E G H | 491 | 815 | OMIM:601386 | Deafness, autosomal recessive 12 | | | | 5 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | CDH23 CL E G H | 64072 | 13733 | OMIM:601386 | Deafness, autosomal recessive 12 | | | | 636 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | | | | 46 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | ESPN CL E G H | 83715 | 13281 | OMIM:618632 | USHER SYNDROME, TYPE 1M; USH1M | | | | 33 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | GIPC3 CL E G H | 126326 | 18183 | OMIM:601869 | DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 | | | | 40 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | HGF CL E G H | 3082 | 4893 | OMIM:608265 | Deafness, congenital neurosensory, autosomal recessive 39 | | | | 39 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | | | | 91 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | MARVELD2 CL E G H | 153562 | 26401 | OMIM:610153 | Deafness, autosomal recessive 49 | | | | 61 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | | | | 96 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:616515 | Deafness, autosomal recessive 104 | | | | 1 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | | | | 4 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0011474 | HP:0011474 | Childhood onset sensorineural hearing impairment | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | | | | 103 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | ADCY1 CL E G H | 107 | 232 | OMIM:610154 | Deafness, autosomal recessive 44 | . | | | 2 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | ATP2B2 CL E G H | 491 | 815 | OMIM:601386 | Deafness, autosomal recessive 12 | . | | | 5 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | CDH23 CL E G H | 64072 | 13733 | OMIM:601386 | Deafness, autosomal recessive 12 | . | | | 636 | | |
HP:0011474 | HP:0008596 | Postlingual sensorineural hearing impairment | 1 | COCH CL E G H | 1690 | 2180 | OMIM:601369 | Deafness, autosomal dominant 9 | . | | | 46 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | ESPN CL E G H | 83715 | 13281 | OMIM:618632 | USHER SYNDROME, TYPE 1M; USH1M | | | | 33 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | GIPC3 CL E G H | 126326 | 18183 | OMIM:601869 | DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15 | | | | 40 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | HGF CL E G H | 3082 | 4893 | OMIM:608265 | Deafness, congenital neurosensory, autosomal recessive 39 | . | | | 39 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | MARVELD2 CL E G H | 153562 | 26401 | OMIM:610153 | Deafness, autosomal recessive 49 | . | | | 61 | | |
HP:0011474 | HP:0008610 | Infantile sensorineural hearing impairment | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040281 - Very frequent | | | 96 | | |
HP:0011474 | HP:0008610 | Infantile sensorineural hearing impairment | 1 | PRG4 CL E G H | 10216 | 9364 | ORPHA:2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | | | | 6 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | RIPOR2 CL E G H | 9750 | 13872 | OMIM:616515 | Deafness, autosomal recessive 104 | . | | | 1 | | |
HP:0011474 | HP:0008610 | Infantile sensorineural hearing impairment | 1 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011474 | HP:0008610 | Infantile sensorineural hearing impairment | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0011474 | HP:0008596 | Postlingual sensorineural hearing impairment | 1 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0011474 | HP:0000399 | Prelingual sensorineural hearing impairment | 1 | TIMM8A CL E G H | 1678 | 11817 | ORPHA:52368 | Mohr-Tranebjaerg syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0011474 | HP:0008596 | Postlingual sensorineural hearing impairment | 1 | TIMM8A CL E G H | 1678 | 11817 | OMIM:304700 | Mohr-Tranebjaerg syndrome | | | | 15 | | |
HP:0011474 | HP:0008610 | Infantile sensorineural hearing impairment | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040283 - Occasional | | | 103 | | |