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:0006335 | HP:0006335 | Persistence of primary teeth | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | EHMT1 CL E G H | 79813 | 24650 | OMIM:610253 | Kleefstra syndrome | | | | 223 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:125350 | Dental noneruption | . | | | 58 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | | | | | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | RHOA CL E G H | 387 | 667 | OMIM:618727 | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB | | | | 8 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | | | | 3 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | SOX4 CL E G H | 6659 | 11200 | OMIM:618506 | Coffin-Siris syndrome 10 | HP:0040284 - Very rare | | | | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | TFAP2B CL E G H | 7021 | 11743 | ORPHA:46627 | Char syndrome | HP:0040283 - Occasional | | | 104 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0006335 | HP:0006335 | Persistence of primary teeth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |