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:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | | | | 435 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | | | | 115 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | | | | 56 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | | | | 172 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | | | | 99 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | | | | 26 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | | | | 12 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | | | | 58 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | | | | 4 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | | | | 8 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | | | | | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | | | | 71 | | |
HP:0040220 | HP:0040220 | Abnormal size of the dental root | 0 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | | | | 4 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | AXIN2 CL E G H | 8313 | 904 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 435 | | |
HP:0040220 | HP:0033189 | Radiculomegaly | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 115 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | EDARADD CL E G H | 128178 | 14341 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 56 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 172 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 99 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | LRP6 CL E G H | 4040 | 6698 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 26 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | MSX1 CL E G H | 4487 | 7391 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 12 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | PAX9 CL E G H | 5083 | 8623 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 58 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | SMOC2 CL E G H | 64094 | 20323 | OMIM:125400 | Dentin dysplasia, type I, with microdontia and misshapen teeth | | | | 4 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | SUMO1 CL E G H | 7341 | 12502 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 8 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | TGFA CL E G H | 7039 | 11765 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0040220 | HP:0040221 | Hypoplasia of the dental root | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | WNT10A CL E G H | 80326 | 13829 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 71 | | |
HP:0040220 | HP:0006336 | Short dental root | 1 | WNT10B CL E G H | 7480 | 12775 | ORPHA:99798 | Oligodontia | HP:0040282 - Frequent | | | 4 | | |