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:0002000 | HP:0002000 | Short columella | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | ALX3 CL E G H | 257 | 449 | OMIM:136760 | Frontonasal dysplasia 1 | . | | | 9 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040282 - Frequent | | | | | |
HP:0002000 | HP:0002000 | Short columella | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:615879 | Tatton-Brown-Rahman syndrome | | | | 44 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040284 - Very rare | | | 44 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | ERF CL E G H | 2077 | 3444 | OMIM:617180 | Chitayat syndrome | . | | | 12 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | KDM6A CL E G H | 7403 | 12637 | OMIM:300867 | Kabuki syndrome 2 | | | | 53 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040281 - Very frequent | | | 660 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0002000 | HP:0002000 | Short columella | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0002000 | HP:0002000 | Short columella | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0002000 | HP:0002000 | Short columella | 0 | THUMPD1 CL E G H | 55623 | 23807 | OMIM:619989 | | | | | | | |
HP:0002000 | HP:0002000 | Short columella | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |