Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | . | | | 51 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ACP4 CL E G H | 93650 | 14376 | OMIM:617297 | AMELOGENESIS IMPERFECTA, TYPE IJ; AI1J | | | | 7 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 530 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040282 - Frequent | | | 76 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | . | | | 126 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | HP:0040283 - Occasional | | | 3179 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 140 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | . | | | 140 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 3 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | . | | | 168 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CAV1 CL E G H | 857 | 1527 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CCN2 CL E G H | 1490 | 2500 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CCR6 CL E G H | 1235 | 1607 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CDH1 CL E G H | 999 | 1748 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040282 - Frequent | | | 1003 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040283 - Occasional | | | 102 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | . | | | 61 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | . | | | 71 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL17A1 CL E G H | 1308 | 2194 | OMIM:619787 | EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE; JEB4 | | | | 129 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79406 | Late-onset junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93346 | Spondyloepimetaphyseal dysplasia congenita, Strudwick type | HP:0040283 - Occasional | | | 284 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040282 - Frequent | | | 263 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040281 - Very frequent | | | 263 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040283 - Occasional | | | 263 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79409 | Recessive dystrophic epidermolysis bullosa inversa | HP:0040282 - Frequent | | | 263 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79411 | Self-improving dystrophic epidermolysis bullosa | HP:0040283 - Occasional | | | 263 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CTNND1 CL E G H | 1500 | 2515 | ORPHA:1997 | Blepharo-cheilo-odontic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | HP:0040284 - Very rare | | | 151 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | . | | | 250 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040282 - Frequent | | | 136 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:180920 | Aplasia of lacrimal and salivary glands | . | | | 17 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 175 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | . | | | 4 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:220393 | Diffuse cutaneous systemic sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | KLK4 CL E G H | 9622 | 6365 | OMIM:204700 | Amelogenesis imperfecta, hypomaturation type, iia1 | . | | | 6 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | . | | | 110 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | LAMA3 CL E G H | 3909 | 6483 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 116 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 167 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | . | | | 167 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | LAMC2 CL E G H | 3918 | 6493 | OMIM:226700 | Epidermolysis bullosa, junctional, Herlitz type | . | | | 135 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040282 - Frequent | | | 22 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040281 - Very frequent | | | 6 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040282 - Frequent | | | 52 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 516 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 27 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | . | | | 17 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PARN CL E G H | 5073 | 8609 | OMIM:616353 | Dyskeratosis congenita, autosomal recessive 6 | . | | | 26 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 40 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040281 - Very frequent | | | 66 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040282 - Frequent | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PPP1CB CL E G H | 5500 | 9282 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 9 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SATB1 CL E G H | 6304 | 10541 | OMIM:619229 | KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SEC23A CL E G H | 10484 | 10701 | OMIM:607812 | Craniolenticulosutural dysplasia | . | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SEC23A CL E G H | 10484 | 10701 | ORPHA:50814 | Craniolenticulosutural dysplasia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | . | | | 3 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SHOC2 CL E G H | 8036 | 15454 | ORPHA:2701 | Noonan syndrome-like disorder with loose anagen hair | HP:0040283 - Occasional | | | 74 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | HP:0040284 - Very rare | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SLC24A4 CL E G H | 123041 | 10978 | OMIM:615887 | Amelogenesis imperfecta, hypomaturation type, iia5 | . | | | 4 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:244460 | Kenny-caffey syndrome, type 1 | . | | | 52 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TCIRG1 CL E G H | 10312 | 11647 | OMIM:259700 | Osteopetrosis, autosomal recessive 1 | . | | | 82 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TRPS1 CL E G H | 7227 | 12340 | OMIM:190350 | Trichorhinophalangeal syndrome, type I | . | | | 171 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040282 - Frequent | | | 151 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | . | | | 13 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 777 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 155 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |
HP:0000670 | HP:0000670 | Carious teeth | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |